psui3905/ncbi_genes_summary huggingface dataset:
LCE2C, Official Symbol LCE2Cprovided by HGNC Official Full Name late cornified envelope 2Cprovided by HGNC Primary source HGNC:HGNC:29460 See related Ensembl:ENSG00000187180 MIM:612611; AllianceGenome:HGNC:29460 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LEP11 Summary Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 72.0) See more
LCE2D, Official Symbol LCE2Dprovided by HGNC Official Full Name late cornified envelope 2Dprovided by HGNC Primary source HGNC:HGNC:16518 See related Ensembl:ENSG00000187223 MIM:612612; AllianceGenome:HGNC:16518 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LEP12; SPRL1A Summary Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 31.0) See more Orthologs all
LCE3A, Official Symbol LCE3Aprovided by HGNC Official Full Name late cornified envelope 3Aprovided by HGNC Primary source HGNC:HGNC:29461 See related Ensembl:ENSG00000185962 MIM:612613; AllianceGenome:HGNC:29461 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LEP13 Summary Involved in defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; and killing of cells of other organism. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
LCE3B, Official Symbol LCE3Bprovided by HGNC Official Full Name late cornified envelope 3Bprovided by HGNC Primary source HGNC:HGNC:29462 See related Ensembl:ENSG00000187238 MIM:612614; AllianceGenome:HGNC:29462 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LEP14 Summary Involved in defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; and killing of cells of other organism. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
LCE3C, Official Symbol LCE3Cprovided by HGNC Official Full Name late cornified envelope 3Cprovided by HGNC Primary source HGNC:HGNC:16612 See related Ensembl:ENSG00000244057 MIM:612615; AllianceGenome:HGNC:16612 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LEP15; SPRL3A Summary Involved in defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; and killing of cells of other organism. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
LCE3D, Official Symbol LCE3Dprovided by HGNC Official Full Name late cornified envelope 3Dprovided by HGNC Primary source HGNC:HGNC:16615 See related Ensembl:ENSG00000163202 MIM:612616; AllianceGenome:HGNC:16615 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LEP16; SPRL6A; SPRL6B Summary Predicted to be involved in keratinization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 6.3) and esophagus (RPKM 3.1) See more Orthologs all
LCE3E, Official Symbol LCE3Eprovided by HGNC Official Full Name late cornified envelope 3Eprovided by HGNC Primary source HGNC:HGNC:29463 See related Ensembl:ENSG00000185966 MIM:612617; AllianceGenome:HGNC:29463 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LEP17 Summary Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 2.4) and skin (RPKM 2.3) See more Orthologs all
LCE4A, Official Symbol LCE4Aprovided by HGNC Official Full Name late cornified envelope 4Aprovided by HGNC Primary source HGNC:HGNC:16613 See related Ensembl:ENSG00000187170 MIM:612618; AllianceGenome:HGNC:16613 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LEP8; SPRL4A Summary Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
LCE5A, Official Symbol LCE5Aprovided by HGNC Official Full Name late cornified envelope 5Aprovided by HGNC Primary source HGNC:HGNC:16614 See related Ensembl:ENSG00000186207 MIM:612619; AllianceGenome:HGNC:16614 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LEP18; SPRL5A Summary Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 22.8) See more Orthologs all
LCE6A, Official Symbol LCE6Aprovided by HGNC Official Full Name late cornified envelope 6Aprovided by HGNC Primary source HGNC:HGNC:31824 See related Ensembl:ENSG00000235942 AllianceGenome:HGNC:31824 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C1orf44 Summary Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 51.7) See more Orthologs mouse all
LCEP1, Official Symbol LCEP1provided by HGNC Official Full Name late cornified envelope pseudogene 1provided by HGNC Primary source HGNC:HGNC:31806 See related Ensembl:ENSG00000233819 AllianceGenome:HGNC:31806 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LCEP2, Official Symbol LCEP2provided by HGNC Official Full Name late cornified envelope pseudogene 2provided by HGNC Primary source HGNC:HGNC:31807 See related Ensembl:ENSG00000229713 AllianceGenome:HGNC:31807 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LCEP3, Official Symbol LCEP3provided by HGNC Official Full Name late cornified envelope pseudogene 3provided by HGNC Primary source HGNC:HGNC:31809 See related Ensembl:ENSG00000285753 AllianceGenome:HGNC:31809 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LCEP4, Official Symbol LCEP4provided by HGNC Official Full Name late cornified envelope pseudogene 4provided by HGNC Primary source HGNC:HGNC:31808 See related Ensembl:ENSG00000226947 AllianceGenome:HGNC:31808 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LCK, Official Symbol LCKprovided by HGNC Official Full Name LCK proto-oncogene, Src family tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:6524 See related Ensembl:ENSG00000182866 MIM:153390; AllianceGenome:HGNC:6524 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LSK; YT16; IMD22; p56lck; pp58lck Summary This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016] Expression Biased expression in lymph node (RPKM 46.5), appendix (RPKM 22.7) and 9 other tissues See more Orthologs mouse all
LCLAT1, Official Symbol LCLAT1provided by HGNC Official Full Name lysocardiolipin acyltransferase 1provided by HGNC Primary source HGNC:HGNC:26756 See related Ensembl:ENSG00000172954 MIM:614241; AllianceGenome:HGNC:26756 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LYCAT; AGPAT8; ALCAT1; LPLAT6; 1AGPAT8; UNQ1849; HSRG1849 Summary Enables 1-acylglycerol-3-phosphate O-acyltransferase activity. Predicted to be involved in phosphatidylinositol acyl-chain remodeling. Located in cytosol and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 4.7), duodenum (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
LCMT1, Official Symbol LCMT1provided by HGNC Official Full Name leucine carboxyl methyltransferase 1provided by HGNC Primary source HGNC:HGNC:17557 See related Ensembl:ENSG00000205629 MIM:610286; AllianceGenome:HGNC:17557 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCMT; PPMT1; CGI-68 Summary LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 19.0), brain (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
LCMT1-AS2, Official Symbol LCMT1-AS2provided by HGNC Official Full Name LCMT1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:51178 See related Ensembl:ENSG00000260034 AllianceGenome:HGNC:51178 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward placenta (RPKM 18.2) See more
LCMT2, Official Symbol LCMT2provided by HGNC Official Full Name leucine carboxyl methyltransferase 2provided by HGNC Primary source HGNC:HGNC:17558 See related Ensembl:ENSG00000168806 MIM:611246; AllianceGenome:HGNC:17558 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PPM2; TYW4 Summary The protein encoded by this intronless gene belongs to the highly variable methyltransferase superfamily. This gene is the inferred homolog of the Saccharomyces cerevisiae carboxymethyltransferase gene PPM2 that is essential for the synthesis of the hypermodified guanosine Wybutosine (yW). [provided by RefSeq, Jul 2008] Orthologs mouse all
LCN1, Official Symbol LCN1provided by HGNC Official Full Name lipocalin 1provided by HGNC Primary source HGNC:HGNC:6525 See related Ensembl:ENSG00000160349 MIM:151675; AllianceGenome:HGNC:6525 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TP; TLC; PMFA; VEGP Summary This gene encodes a member of the lipocalin family of small secretory proteins. Lipocalins are extracellular transport proteins that bind to a variety of hydrophobic ligands. The encoded protein is the primary lipid binding protein in tears and is overproduced in response to multiple stimuli including infection and stress. The encoded protein may be a marker for chromosome aneuploidy as well as an autoantigen in Sjogren's syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and two pseudogenes of this gene are also located on the long arm of chromosome 9. [provided by RefSeq, Nov 2011] Expression Low expression observed in reference dataset See more Orthologs all
LCN10, Official Symbol LCN10provided by HGNC Official Full Name lipocalin 10provided by HGNC Primary source HGNC:HGNC:20892 See related Ensembl:ENSG00000187922 MIM:612904; AllianceGenome:HGNC:20892 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Members of the lipocalin family, such as LCN10, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] Expression Broad expression in spleen (RPKM 4.2), endometrium (RPKM 3.9) and 19 other tissues See more Orthologs mouse all
LCN12, Official Symbol LCN12provided by HGNC Official Full Name lipocalin 12provided by HGNC Primary source HGNC:HGNC:28733 See related Ensembl:ENSG00000184925 MIM:612905; AllianceGenome:HGNC:28733 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Members of the lipocalin family, such as LCN12, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] Expression Biased expression in thyroid (RPKM 11.7), spleen (RPKM 1.8) and 4 other tissues See more Orthologs mouse all
LCN15, Official Symbol LCN15provided by HGNC Official Full Name lipocalin 15provided by HGNC Primary source HGNC:HGNC:33777 See related Ensembl:ENSG00000177984 AllianceGenome:HGNC:33777 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRO6093; UNQ2541 Summary Predicted to enable small molecule binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 4.8), colon (RPKM 2.3) and 2 other tissues See more Orthologs mouse all
LCN1P1, Official Symbol LCN1P1provided by HGNC Official Full Name lipocalin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:23412 See related Ensembl:ENSG00000119440 AllianceGenome:HGNC:23412 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCN1L1; bA430N14.2 Summary Predicted to enable small molecule binding activity. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
LCN2, Official Symbol LCN2provided by HGNC Official Full Name lipocalin 2provided by HGNC Primary source HGNC:HGNC:6526 See related Ensembl:ENSG00000148346 MIM:600181; AllianceGenome:HGNC:6526 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p25; 24p3; MSFI; NGAL Summary This gene encodes a protein that belongs to the lipocalin family. Members of this family transport small hydrophobic molecules such as lipids, steroid hormones and retinoids. The protein encoded by this gene is a neutrophil gelatinase-associated lipocalin and plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores. The presence of this protein in blood and urine is an early biomarker of acute kidney injury. This protein is thought to be be involved in multiple cellular processes, including maintenance of skin homeostasis, and suppression of invasiveness and metastasis. Mice lacking this gene are more susceptible to bacterial infection than wild type mice. [provided by RefSeq, Sep 2015] Expression Biased expression in gall bladder (RPKM 1027.2), bone marrow (RPKM 834.0) and 5 other tissues See more Orthologs mouse all
LCN6, Official Symbol LCN6provided by HGNC Official Full Name lipocalin 6provided by HGNC Primary source HGNC:HGNC:17337 See related Ensembl:ENSG00000267206 MIM:609379; AllianceGenome:HGNC:17337 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCN5; hLcn5; UNQ643 Summary Predicted to enable small molecule binding activity. Predicted to be involved in single fertilization. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in endometrium (RPKM 3.6), heart (RPKM 2.2) and 16 other tissues See more Orthologs mouse all
LCN8, Official Symbol LCN8provided by HGNC Official Full Name lipocalin 8provided by HGNC Primary source HGNC:HGNC:27038 See related Ensembl:ENSG00000204001 MIM:612902; AllianceGenome:HGNC:27038 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EP17; LCN5 Summary Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
LCN9, Official Symbol LCN9provided by HGNC Official Full Name lipocalin 9provided by HGNC Primary source HGNC:HGNC:17442 See related Ensembl:ENSG00000148386 MIM:612903; AllianceGenome:HGNC:17442 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HEL129 Summary Members of the lipocalin family, such as LCN9, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
LCNL1, Official Symbol LCNL1provided by HGNC Official Full Name lipocalin like 1provided by HGNC Primary source HGNC:HGNC:34436 See related Ensembl:ENSG00000214402 AllianceGenome:HGNC:34436 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable small molecule binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 5.4), brain (RPKM 2.5) and 8 other tissues See more Orthologs all
LCOR, Official Symbol LCORprovided by HGNC Official Full Name ligand dependent nuclear receptor corepressorprovided by HGNC Primary source HGNC:HGNC:29503 See related Ensembl:ENSG00000196233 MIM:607698; AllianceGenome:HGNC:29503 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MLR2; C10orf12 Summary LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in bone marrow (RPKM 8.1), duodenum (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
LCORL, Official Symbol LCORLprovided by HGNC Official Full Name ligand dependent nuclear receptor corepressor likeprovided by HGNC Primary source HGNC:HGNC:30776 See related Ensembl:ENSG00000178177 MIM:611799; AllianceGenome:HGNC:30776 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MLR1 Summary This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in testis (RPKM 2.1), small intestine (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
LCP1, Official Symbol LCP1provided by HGNC Official Full Name lymphocyte cytosolic protein 1provided by HGNC Primary source HGNC:HGNC:6528 See related Ensembl:ENSG00000136167 MIM:153430; AllianceGenome:HGNC:6528 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LPL; CP64; PLS2; LC64P; HEL-S-37; L-PLASTIN Summary Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 278.7), bone marrow (RPKM 256.8) and 18 other tissues See more Orthologs mouse all
LCP2, Official Symbol LCP2provided by HGNC Official Full Name lymphocyte cytosolic protein 2provided by HGNC Primary source HGNC:HGNC:6529 See related Ensembl:ENSG00000043462 MIM:601603; AllianceGenome:HGNC:6529 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IMD81; SLP76; SLP-76 Summary This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016] Expression Broad expression in bone marrow (RPKM 53.7), appendix (RPKM 44.7) and 19 other tissues See more Orthologs mouse all
LCT, Official Symbol LCTprovided by HGNC Official Full Name lactaseprovided by HGNC Primary source HGNC:HGNC:6530 See related Ensembl:ENSG00000115850 MIM:603202; AllianceGenome:HGNC:6530 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LAC; LPH; LPH1 Summary The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016] Expression Biased expression in duodenum (RPKM 121.7) and small intestine (RPKM 73.8) See more Orthologs mouse all
LCT-AS1, Official Symbol LCT-AS1provided by HGNC Official Full Name LCT antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40337 See related Ensembl:ENSG00000226806 AllianceGenome:HGNC:40337 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in duodenum (RPKM 4.2), small intestine (RPKM 3.1) and 1 other tissue See more
LCTL, Official Symbol LCTLprovided by HGNC Official Full Name lactase likeprovided by HGNC Primary source HGNC:HGNC:15583 See related Ensembl:ENSG00000188501 MIM:617060; AllianceGenome:HGNC:15583 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KLG; KLPH Summary This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Expression Broad expression in testis (RPKM 4.1), lymph node (RPKM 0.7) and 20 other tissues See more Orthologs mouse all
LDAF1, Official Symbol LDAF1provided by HGNC Official Full Name lipid droplet assembly factor 1provided by HGNC Primary source HGNC:HGNC:30136 See related Ensembl:ENSG00000011638 MIM:611304; AllianceGenome:HGNC:30136 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TMEM159 Summary Involved in lipid droplet formation. Located in endoplasmic reticulum membrane and lipid droplet. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 19.6), skin (RPKM 18.8) and 23 other tissues See more Orthologs mouse all
LDAH, Official Symbol LDAHprovided by HGNC Official Full Name lipid droplet associated hydrolaseprovided by HGNC Primary source HGNC:HGNC:26145 See related Ensembl:ENSG00000118961 MIM:613570; AllianceGenome:HGNC:26145 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as hLDAH; C2orf43 Summary Predicted to enable lipase activity. Predicted to be involved in lipid storage. Predicted to be located in endoplasmic reticulum. Predicted to be active in lipid droplet. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 4.0), urinary bladder (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
LDB1, Official Symbol LDB1provided by HGNC Official Full Name LIM domain binding 1provided by HGNC Primary source HGNC:HGNC:6532 See related Ensembl:ENSG00000198728 MIM:603451; AllianceGenome:HGNC:6532 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NLI; CLIM2; LDB-1; CLIM-2 Summary Enables LIM domain binding activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and enzyme binding activity. Involved in negative regulation of transcription, DNA-templated and positive regulation of transcription by RNA polymerase II. Located in chromatin. Part of beta-catenin-TCF complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 42.1), ovary (RPKM 38.8) and 25 other tissues See more Orthologs mouse all
LDB2, Official Symbol LDB2provided by HGNC Official Full Name LIM domain binding 2provided by HGNC Primary source HGNC:HGNC:6533 See related Ensembl:ENSG00000169744 MIM:603450; AllianceGenome:HGNC:6533 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LDB1; CLIM1; LDB-2 Summary The protein encoded by this gene belongs to the LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization domain and a carboxy-terminal LIM interaction domain. These proteins function as adapter molecules to allow assembly of transcriptional regulatory complexes. Genetic association studies suggest functions for this gene in rhegmatogenous retinal detachment and coronary artery disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Broad expression in endometrium (RPKM 25.9), fat (RPKM 24.8) and 23 other tissues See more Orthologs mouse all
LDB3, Official Symbol LDB3provided by HGNC Official Full Name LIM domain binding 3provided by HGNC Primary source HGNC:HGNC:15710 See related Ensembl:ENSG00000122367 MIM:605906; AllianceGenome:HGNC:15710 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MFM4; ZASP; CMD1C; CMH24; CMPD3; LVNC3; CYPHER; LDB3Z1; LDB3Z4; ORACLE; PDLIM6 Summary This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010] Annotation information Note: LDB3 (Gene ID: 11155) and ZASP (Gene ID: 101927655) share the ZASP alias/unofficial symbol in common. [01 Jun 2018] Expression Biased expression in heart (RPKM 95.5), prostate (RPKM 11.4) and 1 other tissue See more Orthologs mouse all
LDC1P, Official Symbol LDC1Pprovided by HGNC Official Full Name leucine decarboxylase 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:49677 See related Ensembl:ENSG00000260386 AllianceGenome:HGNC:49677 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LINC01225 Expression Low expression observed in reference dataset See more
LDHA, Official Symbol LDHAprovided by HGNC Official Full Name lactate dehydrogenase Aprovided by HGNC Primary source HGNC:HGNC:6535 See related Ensembl:ENSG00000134333 MIM:150000; AllianceGenome:HGNC:6535 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LDHM; GSD11; PIG19; HEL-S-133P Summary The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008] Expression Ubiquitous expression in small intestine (RPKM 177.1), liver (RPKM 154.8) and 25 other tissues See more Orthologs mouse all
LDHAL6A, Official Symbol LDHAL6Aprovided by HGNC Official Full Name lactate dehydrogenase A like 6Aprovided by HGNC Primary source HGNC:HGNC:28335 See related Ensembl:ENSG00000166800 MIM:618928; AllianceGenome:HGNC:28335 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LDH6A Summary Predicted to enable L-lactate dehydrogenase activity. Predicted to be involved in carbohydrate metabolic process and carboxylic acid metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.4) and thyroid (RPKM 0.2) See more Orthologs all
LDHAL6B, Official Symbol LDHAL6Bprovided by HGNC Official Full Name lactate dehydrogenase A like 6Bprovided by HGNC Primary source HGNC:HGNC:21481 See related Ensembl:ENSG00000171989 AllianceGenome:HGNC:21481 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LDHL; LDH6B; LDHAL6 Summary Predicted to enable L-lactate dehydrogenase activity. Predicted to be involved in pyruvate metabolic process. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
LDHAP5, Official Symbol LDHAP5provided by HGNC Official Full Name lactate dehydrogenase A pseudogene 5provided by HGNC Primary source HGNC:HGNC:6540 See related AllianceGenome:HGNC:6540 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LDHAL5
LDHB, Official Symbol LDHBprovided by HGNC Official Full Name lactate dehydrogenase Bprovided by HGNC Primary source HGNC:HGNC:6541 See related Ensembl:ENSG00000111716 MIM:150100; AllianceGenome:HGNC:6541 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LDH-B; LDH-H; LDHBD; TRG-5; HEL-S-281 Summary This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016] Expression Broad expression in kidney (RPKM 475.5), heart (RPKM 454.7) and 21 other tissues See more Orthologs mouse all
LDHBP1, Official Symbol LDHBP1provided by HGNC Official Full Name lactate dehydrogenase B pseudogene 1provided by HGNC Primary source HGNC:HGNC:6542 See related Ensembl:ENSG00000232662 AllianceGenome:HGNC:6542 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LDHBL1
LDHBP2, Official Symbol LDHBP2provided by HGNC Official Full Name lactate dehydrogenase B pseudogene 2provided by HGNC Primary source HGNC:HGNC:6543 See related AllianceGenome:HGNC:6543 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LDHBP; LDHBL2
LDHBP3, Official Symbol LDHBP3provided by HGNC Official Full Name lactate dehydrogenase B pseudogene 3provided by HGNC Primary source HGNC:HGNC:39136 See related Ensembl:ENSG00000248950 AllianceGenome:HGNC:39136 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LDHC, Official Symbol LDHCprovided by HGNC Official Full Name lactate dehydrogenase Cprovided by HGNC Primary source HGNC:HGNC:6544 See related Ensembl:ENSG00000166796 MIM:150150; AllianceGenome:HGNC:6544 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CT32; LDH3; LDHX Summary Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 186.5) See more Orthologs mouse all
LDHD, Official Symbol LDHDprovided by HGNC Official Full Name lactate dehydrogenase Dprovided by HGNC Primary source HGNC:HGNC:19708 See related Ensembl:ENSG00000166816 MIM:607490; AllianceGenome:HGNC:19708 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DLD; DLACD Summary The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 28.2), liver (RPKM 23.6) and 15 other tissues See more Orthologs mouse all
LDLR, Official Symbol LDLRprovided by HGNC Official Full Name low density lipoprotein receptorprovided by HGNC Primary source HGNC:HGNC:6547 See related Ensembl:ENSG00000130164 MIM:606945; AllianceGenome:HGNC:6547 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FH; FHC; FHCL1; LDLCQ2 Summary The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022] Expression Ubiquitous expression in adrenal (RPKM 29.0), lung (RPKM 28.5) and 25 other tissues See more Orthologs mouse all
LDLRAD1, Official Symbol LDLRAD1provided by HGNC Official Full Name low density lipoprotein receptor class A domain containing 1provided by HGNC Primary source HGNC:HGNC:32069 See related Ensembl:ENSG00000203985 AllianceGenome:HGNC:32069 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lung (RPKM 3.4), stomach (RPKM 0.6) and 5 other tissues See more Orthologs mouse all
LDLRAD2, Official Symbol LDLRAD2provided by HGNC Official Full Name low density lipoprotein receptor class A domain containing 2provided by HGNC Primary source HGNC:HGNC:32071 See related Ensembl:ENSG00000187942 AllianceGenome:HGNC:32071 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 52.2), gall bladder (RPKM 13.0) and 22 other tissues See more Orthologs mouse all
LDLRAD3, Official Symbol LDLRAD3provided by HGNC Official Full Name low density lipoprotein receptor class A domain containing 3provided by HGNC Primary source HGNC:HGNC:27046 See related Ensembl:ENSG00000179241 MIM:617986; AllianceGenome:HGNC:27046 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LRAD3 Summary Predicted to enable amyloid-beta binding activity. Predicted to act upstream of or within receptor-mediated endocytosis and regulation of protein processing. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 8.5), prostate (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
LDLRAD4, Official Symbol LDLRAD4provided by HGNC Official Full Name low density lipoprotein receptor class A domain containing 4provided by HGNC Primary source HGNC:HGNC:1224 See related Ensembl:ENSG00000168675 MIM:606571; AllianceGenome:HGNC:1224 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C18orf1 Summary Enables R-SMAD binding activity. Involved in negative regulation of cell migration; negative regulation of epithelial to mesenchymal transition; and negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Located in early endosome membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 2.9), prostate (RPKM 1.4) and 24 other tissues See more Orthologs mouse all
LDLRAD4-AS1, Official Symbol LDLRAD4-AS1provided by HGNC Official Full Name LDLRAD4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48592 See related Ensembl:ENSG00000267690 AllianceGenome:HGNC:48592 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
LDLRAP1, Official Symbol LDLRAP1provided by HGNC Official Full Name low density lipoprotein receptor adaptor protein 1provided by HGNC Primary source HGNC:HGNC:18640 See related Ensembl:ENSG00000157978 MIM:605747; AllianceGenome:HGNC:18640 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4 Summary The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 14.0), lymph node (RPKM 12.3) and 25 other tissues See more Orthologs mouse all