psui3905/ncbi_genes_summary huggingface dataset:
LDOC1, Official Symbol LDOC1provided by HGNC Official Full Name LDOC1 regulator of NFKB signalingprovided by HGNC Primary source HGNC:HGNC:6548 See related Ensembl:ENSG00000182195 MIM:300402; AllianceGenome:HGNC:6548 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 Mar7; RTL7; BCUR1; Mart7; SIRH7 Summary The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq, Jul 2008] Orthologs mouse all
LEAP2, Official Symbol LEAP2provided by HGNC Official Full Name liver enriched antimicrobial peptide 2provided by HGNC Primary source HGNC:HGNC:29571 See related Ensembl:ENSG00000164406 MIM:611373; AllianceGenome:HGNC:29571 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 LEAP-2 Summary This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014] Expression Biased expression in liver (RPKM 158.3), small intestine (RPKM 13.5) and 1 other tissue See more Orthologs mouse all
LECT2, Official Symbol LECT2provided by HGNC Official Full Name leukocyte cell derived chemotaxin 2provided by HGNC Primary source HGNC:HGNC:6550 See related Ensembl:ENSG00000145826 MIM:602882; AllianceGenome:HGNC:6550 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 chm2; chm-II Summary This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions of the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 110.6) See more Orthologs mouse all
LEF1, Official Symbol LEF1provided by HGNC Official Full Name lymphoid enhancer binding factor 1provided by HGNC Primary source HGNC:HGNC:6551 See related Ensembl:ENSG00000138795 MIM:153245; AllianceGenome:HGNC:6551 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 LEF-1; TCF10; TCF7L3; TCF1ALPHA Summary This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Broad expression in lymph node (RPKM 17.6), appendix (RPKM 8.1) and 14 other tissues See more Orthologs mouse all
LEF1-AS1, Official Symbol LEF1-AS1provided by HGNC Official Full Name LEF1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40339 See related Ensembl:ENSG00000232021 AllianceGenome:HGNC:40339 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LEF1NAT Expression Biased expression in testis (RPKM 7.7), lymph node (RPKM 1.6) and 6 other tissues See more
LEFTY1, Official Symbol LEFTY1provided by HGNC Official Full Name left-right determination factor 1provided by HGNC Primary source HGNC:HGNC:6552 See related Ensembl:ENSG00000243709 MIM:603037; AllianceGenome:HGNC:6552 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 LEFTB; LEFTYB Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq, Aug 2016] Expression Biased expression in colon (RPKM 67.2), pancreas (RPKM 11.8) and 2 other tissues See more Orthologs all
LEFTY2, Official Symbol LEFTY2provided by HGNC Official Full Name left-right determination factor 2provided by HGNC Primary source HGNC:HGNC:3122 See related Ensembl:ENSG00000143768 MIM:601877; AllianceGenome:HGNC:3122 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 EBAF; LEFTA; TGFB4; LEFTYA Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016] Expression Biased expression in endometrium (RPKM 129.5) and ovary (RPKM 10.7) See more Orthologs mouse all
LEKR1, Official Symbol LEKR1provided by HGNC Official Full Name leucine, glutamate and lysine rich 1provided by HGNC Primary source HGNC:HGNC:33765 See related Ensembl:ENSG00000197980 MIM:613536; AllianceGenome:HGNC:33765 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 Expression Biased expression in testis (RPKM 1.9), thyroid (RPKM 0.4) and 7 other tissues See more Orthologs mouse all
LELP1, Official Symbol LELP1provided by HGNC Official Full Name late cornified envelope like proline rich 1provided by HGNC Primary source HGNC:HGNC:32046 See related Ensembl:ENSG00000203784 MIM:611042; AllianceGenome:HGNC:32046 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 Expression Restricted expression toward testis (RPKM 182.9) See more Orthologs mouse all
LEMD1, Official Symbol LEMD1provided by HGNC Official Full Name LEM domain containing 1provided by HGNC Primary source HGNC:HGNC:18725 See related Ensembl:ENSG00000186007 MIM:610480; AllianceGenome:HGNC:18725 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 CT50; LEMP-1 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 16.5) See more Orthologs mouse all
LEMD1-AS1, Official Symbol LEMD1-AS1provided by HGNC Official Full Name LEMD1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44132 See related Ensembl:ENSG00000226235 AllianceGenome:HGNC:44132 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 ovary (RPKM 11.5), adrenal (RPKM 3.0) and 1 other tissue See more
LEMD1-DT, Official Symbol LEMD1-DTprovided by HGNC Official Full Name LEMD1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:27631 See related Ensembl:ENSG00000224717 AllianceGenome:HGNC:27631 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
LEMD2, Official Symbol LEMD2provided by HGNC Official Full Name LEM domain nuclear envelope protein 2provided by HGNC Primary source HGNC:HGNC:21244 See related Ensembl:ENSG00000161904 MIM:616312; AllianceGenome:HGNC:21244 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 LEM2; NET25; MARUPS; CTRCT42; dJ482C21.1 Summary This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in testis (RPKM 4.6), spleen (RPKM 4.4) and 25 other tissues See more Orthologs mouse all
LEMD3, Official Symbol LEMD3provided by HGNC Official Full Name LEM domain containing 3provided by HGNC Primary source HGNC:HGNC:28887 See related Ensembl:ENSG00000174106 MIM:607844; AllianceGenome:HGNC:28887 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 MAN1 Summary This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009] Expression Ubiquitous expression in testis (RPKM 11.8), bone marrow (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
LENEP, Official Symbol LENEPprovided by HGNC Official Full Name lens epithelial proteinprovided by HGNC Primary source HGNC:HGNC:14429 See related Ensembl:ENSG00000163352 MIM:607377; AllianceGenome:HGNC:14429 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 LEP503 Summary The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
LENG1, Official Symbol LENG1provided by HGNC Official Full Name leukocyte receptor cluster member 1provided by HGNC Primary source HGNC:HGNC:15502 See related Ensembl:ENSG00000105617 AllianceGenome:HGNC:15502 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 Expression Ubiquitous expression in spleen (RPKM 7.9), testis (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
LENG8, Official Symbol LENG8provided by HGNC Official Full Name leukocyte receptor cluster member 8provided by HGNC Primary source HGNC:HGNC:15500 See related Ensembl:ENSG00000167615 MIM:616575; AllianceGenome:HGNC:15500 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 pp13842 Summary Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 65.5), endometrium (RPKM 49.9) and 24 other tissues See more Orthologs mouse all
LENG8-AS1, Official Symbol LENG8-AS1provided by HGNC Official Full Name LENG8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40705 See related Ensembl:ENSG00000226696 AllianceGenome:HGNC:40705 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 Ubiquitous expression in testis (RPKM 2.6), spleen (RPKM 2.4) and 24 other tissues See more
LENG9, Official Symbol LENG9provided by HGNC Official Full Name leukocyte receptor cluster member 9provided by HGNC Primary source HGNC:HGNC:16306 See related Ensembl:ENSG00000275183 AllianceGenome:HGNC:16306 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 metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
LEO1, Official Symbol LEO1provided by HGNC Official Full Name LEO1 homolog, Paf1/RNA polymerase II complex componentprovided by HGNC Primary source HGNC:HGNC:30401 See related Ensembl:ENSG00000166477 MIM:610507; AllianceGenome:HGNC:30401 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 RDL Summary LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in colon (RPKM 10.8), urinary bladder (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
LEP, Official Symbol LEPprovided by HGNC Official Full Name leptinprovided by HGNC Primary source HGNC:HGNC:6553 See related Ensembl:ENSG00000174697 MIM:164160; AllianceGenome:HGNC:6553 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 OB; OBS; LEPD Summary This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017] Expression Restricted expression toward fat (RPKM 214.1) See more Orthologs mouse all
LEPR, Official Symbol LEPRprovided by HGNC Official Full Name leptin receptorprovided by HGNC Primary source HGNC:HGNC:6554 See related Ensembl:ENSG00000116678 MIM:601007; AllianceGenome:HGNC:6554 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 OBR; OB-R; CD295; LEP-R; LEPRD Summary The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010] Expression Ubiquitous expression in liver (RPKM 22.2), endometrium (RPKM 12.0) and 23 other tissues See more Orthologs mouse all
LEPROT, Official Symbol LEPROTprovided by HGNC Official Full Name leptin receptor overlapping transcriptprovided by HGNC Primary source HGNC:HGNC:29477 See related Ensembl:ENSG00000213625 MIM:613461; AllianceGenome:HGNC:29477 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 LEPR; VPS55; OBRGRP; OB-RGRP Summary LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010] Expression Ubiquitous expression in fat (RPKM 33.5), kidney (RPKM 30.3) and 25 other tissues See more Orthologs mouse all
LEPROTL1, Official Symbol LEPROTL1provided by HGNC Official Full Name leptin receptor overlapping transcript like 1provided by HGNC Primary source HGNC:HGNC:6555 See related Ensembl:ENSG00000104660 MIM:607338; AllianceGenome:HGNC:6555 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 Vps55; my047; HSPC112 Summary Enables identical protein binding activity. Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting pathway and negative regulation of growth hormone receptor signaling pathway. Predicted to be integral component of membrane. Predicted to be active in endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 29.1), lymph node (RPKM 17.8) and 24 other tissues See more Orthologs mouse all
LETM1, Official Symbol LETM1provided by HGNC Official Full Name leucine zipper and EF-hand containing transmembrane protein 1provided by HGNC Primary source HGNC:HGNC:6556 See related Ensembl:ENSG00000168924 MIM:604407; AllianceGenome:HGNC:6556 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 KHE; Mdm38; CONDMIM; SLC55A1 Summary This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in colon (RPKM 12.1), kidney (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
LETM2, Official Symbol LETM2provided by HGNC Official Full Name leucine zipper and EF-hand containing transmembrane protein 2provided by HGNC Primary source HGNC:HGNC:14648 See related Ensembl:ENSG00000165046 MIM:620380; AllianceGenome:HGNC:14648 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 SLC55A2 Summary Predicted to enable ribosome binding activity. Predicted to be involved in cellular metal ion homeostasis. Predicted to be located in mitochondrial inner membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 3.0), brain (RPKM 0.6) and 14 other tissues See more Orthologs mouse all
LETMD1, Official Symbol LETMD1provided by HGNC Official Full Name LETM1 domain containing 1provided by HGNC Primary source HGNC:HGNC:24241 See related Ensembl:ENSG00000050426 MIM:619070; AllianceGenome:HGNC:24241 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 HCCR; HCCR1; HCCR2; HCCR-1; HCCR-2; HCRR-2; SLC55A3; 1110019O13Rik Summary This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in thyroid (RPKM 15.5), fat (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
LEUTX, Official Symbol LEUTXprovided by HGNC Official Full Name leucine twenty homeoboxprovided by HGNC Primary source HGNC:HGNC:31953 See related Ensembl:ENSG00000213921 MIM:618701; AllianceGenome:HGNC:31953 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 DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
LFNG, Official Symbol LFNGprovided by HGNC Official Full Name LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferaseprovided by HGNC Primary source HGNC:HGNC:6560 See related Ensembl:ENSG00000106003 MIM:602576; AllianceGenome:HGNC:6560 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 SCDO3 Summary This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018] Expression Ubiquitous expression in skin (RPKM 16.6), stomach (RPKM 14.0) and 23 other tissues See more Orthologs mouse all
LGALS1, Official Symbol LGALS1provided by HGNC Official Full Name galectin 1provided by HGNC Primary source HGNC:HGNC:6561 See related Ensembl:ENSG00000100097 MIM:150570; AllianceGenome:HGNC:6561 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 GBP; GAL1 Summary The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 642.6), endometrium (RPKM 479.1) and 23 other tissues See more Orthologs mouse all
LGALS12, Official Symbol LGALS12provided by HGNC Official Full Name galectin 12provided by HGNC Primary source HGNC:HGNC:15788 See related Ensembl:ENSG00000133317 MIM:606096; AllianceGenome:HGNC:15788 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 GAL12; GRIP1 Summary This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010] Expression Biased expression in fat (RPKM 41.6) and bone marrow (RPKM 4.0) See more Orthologs mouse all
LGALS13, Official Symbol LGALS13provided by HGNC Official Full Name galectin 13provided by HGNC Primary source HGNC:HGNC:15449 See related Ensembl:ENSG00000105198 MIM:608717; AllianceGenome:HGNC:15449 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 PP13; GAL13; PLAC8 Summary Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 6.7) See more Orthologs all
LGALS14, Official Symbol LGALS14provided by HGNC Official Full Name galectin 14provided by HGNC Primary source HGNC:HGNC:30054 See related Ensembl:ENSG00000006659 MIM:607260; AllianceGenome:HGNC:30054 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 CLC2; PPL13 Summary This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 25.5) See more Orthologs all
LGALS16, Official Symbol LGALS16provided by HGNC Official Full Name galectin 16provided by HGNC Primary source HGNC:HGNC:40039 See related Ensembl:ENSG00000249861 AllianceGenome:HGNC:40039 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 Enables lactose binding activity. Involved in positive regulation of T cell apoptotic process. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward placenta (RPKM 1.7) See more Orthologs all
LGALS17A, Gene symbol LGALS17A Gene description galectin 14 pseudogene See related Ensembl:ENSG00000291086 Gene type pseudo 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
LGALS2, Official Symbol LGALS2provided by HGNC Official Full Name galectin 2provided by HGNC Primary source HGNC:HGNC:6562 See related Ensembl:ENSG00000100079 MIM:150571; AllianceGenome:HGNC:6562 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 HL14 Summary The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq, Jul 2008] Expression Biased expression in gall bladder (RPKM 133.8), small intestine (RPKM 81.3) and 7 other tissues See more Orthologs mouse all
LGALS3, Official Symbol LGALS3provided by HGNC Official Full Name galectin 3provided by HGNC Primary source HGNC:HGNC:6563 See related Ensembl:ENSG00000131981 MIM:153619; AllianceGenome:HGNC:6563 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 L31; GAL3; MAC2; CBP35; GALBP; GALIG; LGALS2 Summary This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014] Annotation information Note: GeneID 3958 had the official symbol LGALS2 and was identified as the human homolog of mouse Mac-2 (macrophage galactose-specific lectin) in M35368.1 and PMID: 2402511. The official symbol for this gene is now LGALS3. [30 Mar 2010] Expression Broad expression in colon (RPKM 302.9), small intestine (RPKM 190.7) and 21 other tissues See more Orthologs mouse all
LGALS3BP, Official Symbol LGALS3BPprovided by HGNC Official Full Name galectin 3 binding proteinprovided by HGNC Primary source HGNC:HGNC:6564 See related Ensembl:ENSG00000108679 MIM:600626; AllianceGenome:HGNC:6564 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 90K; M2BP; gp90; CyCAP; BTBD17B; MAC-2-BP; TANGO10B Summary The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in stomach (RPKM 179.8), colon (RPKM 156.8) and 25 other tissues See more Orthologs mouse all
LGALS4, Official Symbol LGALS4provided by HGNC Official Full Name galectin 4provided by HGNC Primary source HGNC:HGNC:6565 See related Ensembl:ENSG00000171747 MIM:602518; AllianceGenome:HGNC:6565 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 GAL4; L36LBP Summary The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The expression of this gene is restricted to small intestine, colon, and rectum, and it is underexpressed in colorectal cancer. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 740.5), duodenum (RPKM 465.8) and 4 other tissues See more Orthologs mouse all
LGALS7, Official Symbol LGALS7provided by HGNC Official Full Name galectin 7provided by HGNC Primary source HGNC:HGNC:6568 See related Ensembl:ENSG00000205076 MIM:600615; AllianceGenome:HGNC:6568 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 GAL7; LGALS7A Summary The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:653499) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008] Expression Restricted expression toward skin (RPKM 300.6) See more Orthologs mouse all
LGALS7B, Official Symbol LGALS7Bprovided by HGNC Official Full Name galectin 7Bprovided by HGNC Primary source HGNC:HGNC:34447 See related Ensembl:ENSG00000178934 MIM:617139; AllianceGenome:HGNC:34447 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 PI7; GAL7; Gal-7; HKL-14; LGALS7 Summary The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:3963) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008] Expression Restricted expression toward skin (RPKM 506.8) See more Orthologs all
LGALS8, Official Symbol LGALS8provided by HGNC Official Full Name galectin 8provided by HGNC Primary source HGNC:HGNC:6569 See related Ensembl:ENSG00000116977 MIM:606099; AllianceGenome:HGNC:6569 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 Gal-8; PCTA1; PCTA-1; Po66-CBP Summary This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 17.5), skin (RPKM 16.3) and 25 other tissues See more Orthologs mouse all
LGALS8-AS1, Official Symbol LGALS8-AS1provided by HGNC Official Full Name LGALS8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40340 See related Ensembl:ENSG00000223776 AllianceGenome:HGNC:40340 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LGALS9, Official Symbol LGALS9provided by HGNC Official Full Name galectin 9provided by HGNC Primary source HGNC:HGNC:6570 See related Ensembl:ENSG00000168961 MIM:601879; AllianceGenome:HGNC:6570 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 HUAT; LGALS9A Summary The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. It is overexpressed in Hodgkin's disease tissue and might participate in the interaction between the H&RS cells with their surrounding cells and might thus play a role in the pathogenesis of this disease and/or its associated immunodeficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 33.5), stomach (RPKM 28.4) and 23 other tissues See more Orthologs mouse all
LGALS9B, Official Symbol LGALS9Bprovided by HGNC Official Full Name galectin 9Bprovided by HGNC Primary source HGNC:HGNC:24842 See related Ensembl:ENSG00000170298 AllianceGenome:HGNC:24842 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 This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more centromeric gene. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 25.2), gall bladder (RPKM 10.0) and 4 other tissues See more Orthologs all
LGALS9C, Official Symbol LGALS9Cprovided by HGNC Official Full Name galectin 9Cprovided by HGNC Primary source HGNC:HGNC:33874 See related Ensembl:ENSG00000171916 AllianceGenome:HGNC:33874 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 Gal-9B; LGALS9B Summary This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more telomeric gene. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 22.9), gall bladder (RPKM 8.6) and 4 other tissues See more Orthologs all
LGALSL, Official Symbol LGALSLprovided by HGNC Official Full Name galectin likeprovided by HGNC Primary source HGNC:HGNC:25012 See related Ensembl:ENSG00000119862 MIM:617902; AllianceGenome:HGNC:25012 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 GRP; HSPC159 Summary Predicted to enable carbohydrate binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 47.6), esophagus (RPKM 15.3) and 22 other tissues See more Orthologs mouse all
LGALSL-DT, Official Symbol LGALSL-DTprovided by HGNC Official Full Name LGALSL divergent transcriptprovided by HGNC Primary source HGNC:HGNC:53951 See related AllianceGenome:HGNC:53951 Gene type ncRNA RefSeq status MODEL 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
LGI1, Official Symbol LGI1provided by HGNC Official Full Name leucine rich glioma inactivated 1provided by HGNC Primary source HGNC:HGNC:6572 See related Ensembl:ENSG00000108231 MIM:604619; AllianceGenome:HGNC:6572 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 EPT; ETL1; ADLTE; ADPAEF; ADPEAF; IB1099; EPITEMPIN Summary This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Biased expression in brain (RPKM 13.8), esophagus (RPKM 1.7) and 3 other tissues See more Orthologs mouse all
LGI2, Official Symbol LGI2provided by HGNC Official Full Name leucine rich repeat LGI family member 2provided by HGNC Primary source HGNC:HGNC:18710 See related Ensembl:ENSG00000153012 MIM:608301; AllianceGenome:HGNC:18710 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 LGIL2 Summary Predicted to be involved in inhibitory synapse assembly. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 3.7), appendix (RPKM 3.2) and 20 other tissues See more Orthologs mouse all
LGI3, Official Symbol LGI3provided by HGNC Official Full Name leucine rich repeat LGI family member 3provided by HGNC Primary source HGNC:HGNC:18711 See related Ensembl:ENSG00000168481 MIM:608302; AllianceGenome:HGNC:18711 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 LGIL4; IDDMDS Summary Predicted to enable catalytic activity. Predicted to be involved in regulation of exocytosis. Predicted to be located in extracellular region. Predicted to be active in synaptic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 29.1), lung (RPKM 12.3) and 4 other tissues See more Orthologs mouse all
LGI4, Official Symbol LGI4provided by HGNC Official Full Name leucine rich repeat LGI family member 4provided by HGNC Primary source HGNC:HGNC:18712 See related Ensembl:ENSG00000153902 MIM:608303; AllianceGenome:HGNC:18712 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 AMC1; LGIL3; AMCNMY Summary Involved in regulation of myelination. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in arthrogryposis multiplex congenita-1 and childhood absence epilepsy. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 15.0), brain (RPKM 9.1) and 21 other tissues See more Orthologs mouse all