psui3905/ncbi_genes_summary huggingface dataset:
LINGO1, Official Symbol LINGO1provided by HGNC Official Full Name leucine rich repeat and Ig domain containing 1provided by HGNC Primary source HGNC:HGNC:21205 See related Ensembl:ENSG00000169783 MIM:609791; AllianceGenome:HGNC:21205 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 LERN1; MRT64; LRRN6A; UNQ201 Summary Predicted to enable epidermal growth factor receptor binding activity. Predicted to act upstream of or within generation of neurons and protein kinase B signaling. Predicted to be located in plasma membrane. Predicted to be active in extracellular matrix and extracellular space. Implicated in autosomal recessive non-syndromic intellectual disability and glaucoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 24.2), placenta (RPKM 1.9) and 3 other tissues See more Orthologs mouse all
LINGO1-AS1, Official Symbol LINGO1-AS1provided by HGNC Official Full Name LINGO1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27368 See related Ensembl:ENSG00000259666 AllianceGenome:HGNC:27368 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 testis (RPKM 1.8) See more
LINGO1-AS2, Official Symbol LINGO1-AS2provided by HGNC Official Full Name LINGO1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:51423 See related Ensembl:ENSG00000259281 AllianceGenome:HGNC:51423 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 testis (RPKM 3.5) See more
LINGO2, Official Symbol LINGO2provided by HGNC Official Full Name leucine rich repeat and Ig domain containing 2provided by HGNC Primary source HGNC:HGNC:21207 See related Ensembl:ENSG00000174482 MIM:609793; AllianceGenome:HGNC:21207 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 LERN3; LRRN6C Summary Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be integral component of membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
LINGO3, Official Symbol LINGO3provided by HGNC Official Full Name leucine rich repeat and Ig domain containing 3provided by HGNC Primary source HGNC:HGNC:21206 See related Ensembl:ENSG00000220008 MIM:609792; AllianceGenome:HGNC:21206 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 LERN2; LRRN6B Summary Predicted to be integral component of membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in spleen (RPKM 1.7), brain (RPKM 0.7) and 7 other tissues See more Orthologs mouse all
LINGO4, Official Symbol LINGO4provided by HGNC Official Full Name leucine rich repeat and Ig domain containing 4provided by HGNC Primary source HGNC:HGNC:31814 See related Ensembl:ENSG00000213171 MIM:609794; AllianceGenome:HGNC:31814 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 LRRN6D; DAAT9248; PRO34002 Summary Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be integral component of membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in adrenal (RPKM 1.2), testis (RPKM 0.4) and 16 other tissues See more Orthologs mouse all
LINS1, Official Symbol LINS1provided by HGNC Official Full Name lines homolog 1provided by HGNC Primary source HGNC:HGNC:30922 See related Ensembl:ENSG00000140471 MIM:610350; AllianceGenome:HGNC:30922 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 LINS; MRT27; WINS1 Summary The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017] Expression Ubiquitous expression in lymph node (RPKM 3.7), spleen (RPKM 2.8) and 25 other tissues See more Orthologs mouse all
LIPA, Official Symbol LIPAprovided by HGNC Official Full Name lipase A, lysosomal acid typeprovided by HGNC Primary source HGNC:HGNC:6617 See related Ensembl:ENSG00000107798 MIM:613497; AllianceGenome:HGNC:6617 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 LAL; CESD Summary This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] Expression Broad expression in spleen (RPKM 177.6), small intestine (RPKM 113.4) and 21 other tissues See more Orthologs mouse all
LIPC, Official Symbol LIPCprovided by HGNC Official Full Name lipase C, hepatic typeprovided by HGNC Primary source HGNC:HGNC:6619 See related Ensembl:ENSG00000166035 MIM:151670; AllianceGenome:HGNC:6619 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 HL; HTGL; LIPH; HDLCQ12 Summary Enables phospholipase A1 activity and triglyceride lipase activity. Involved in several processes, including lipid homeostasis; plasma lipoprotein particle remodeling; and triglyceride catabolic process. Located in extracellular space. Implicated in several diseases, including Alzheimer's disease; coronary artery disease; familial combined hyperlipidemia; peripheral vascular disease; and type 2 diabetes mellitus. Biomarker of hyperinsulinism; obesity; and type 1 diabetes mellitus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 24.9) and kidney (RPKM 1.5) See more Orthologs mouse all
LIPC-AS1, Official Symbol LIPC-AS1provided by HGNC Official Full Name LIPC antisense RNA 1provided by HGNC Primary source HGNC:HGNC:52294 See related Ensembl:ENSG00000259293 AllianceGenome:HGNC:52294 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
LIPE, Official Symbol LIPEprovided by HGNC Official Full Name lipase E, hormone sensitive typeprovided by HGNC Primary source HGNC:HGNC:6621 See related Ensembl:ENSG00000079435 MIM:151750; AllianceGenome:HGNC:6621 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 HSL; LHS; REH; AOMS4; FPLD6 Summary The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008] Expression Biased expression in fat (RPKM 187.4) and testis (RPKM 12.7) See more Orthologs mouse all
LIPE-AS1, Official Symbol LIPE-AS1provided by HGNC Official Full Name LIPE antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48589 See related Ensembl:ENSG00000213904 AllianceGenome:HGNC:48589 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 Broad expression in fat (RPKM 4.9), testis (RPKM 3.5) and 23 other tissues See more
LIPF, Official Symbol LIPFprovided by HGNC Official Full Name lipase F, gastric typeprovided by HGNC Primary source HGNC:HGNC:6622 See related Ensembl:ENSG00000182333 MIM:601980; AllianceGenome:HGNC:6622 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 GL; HGL; HLAL Summary This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] Expression Restricted expression toward stomach (RPKM 9296.8) See more Orthologs all
LIPG, Official Symbol LIPGprovided by HGNC Official Full Name lipase G, endothelial typeprovided by HGNC Primary source HGNC:HGNC:6623 See related Ensembl:ENSG00000101670 MIM:603684; AllianceGenome:HGNC:6623 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 EL; EDL; PRO719 Summary The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008] Expression Biased expression in thyroid (RPKM 109.5), placenta (RPKM 50.3) and 3 other tissues See more Orthologs mouse all
LIPH, Official Symbol LIPHprovided by HGNC Official Full Name lipase Hprovided by HGNC Primary source HGNC:HGNC:18483 See related Ensembl:ENSG00000163898 MIM:607365; AllianceGenome:HGNC:18483 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 AH; LAH2; ARWH2; HYPT7; LPDLR; PLA1B; mPA-PLA1 Summary This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 18.6), stomach (RPKM 18.4) and 12 other tissues See more Orthologs mouse all
LIPI, Official Symbol LIPIprovided by HGNC Official Full Name lipase Iprovided by HGNC Primary source HGNC:HGNC:18821 See related Ensembl:ENSG00000188992 MIM:609252; AllianceGenome:HGNC:18821 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 CT17; LPDL; PLA1C; PRED5; mPA-PLA1 beta Summary The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Biased expression in thyroid (RPKM 1.4), endometrium (RPKM 0.3) and 2 other tissues See more Orthologs mouse all
LIPJ, Official Symbol LIPJprovided by HGNC Official Full Name lipase family member Jprovided by HGNC Primary source HGNC:HGNC:21773 See related Ensembl:ENSG00000204022 MIM:613921; AllianceGenome:HGNC:21773 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 LIPL1; bA425M17.2 Summary Predicted to enable hydrolase activity, acting on ester bonds. Predicted to be involved in lipid catabolic process. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 1.7), thyroid (RPKM 0.3) and 20 other tissues See more Orthologs all
LIPK, Official Symbol LIPKprovided by HGNC Official Full Name lipase family member Kprovided by HGNC Primary source HGNC:HGNC:23444 See related Ensembl:ENSG00000204021 MIM:613922; AllianceGenome:HGNC:23444 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 LIPL2; bA186O14.2 Summary Predicted to enable lipoprotein lipase activity. Predicted to be involved in cornification. Predicted to be located in extracellular region. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 5.3) See more Orthologs all
LIPM, Official Symbol LIPMprovided by HGNC Official Full Name lipase family member Mprovided by HGNC Primary source HGNC:HGNC:23455 See related Ensembl:ENSG00000173239 MIM:613923; AllianceGenome:HGNC:23455 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 LIPL3; bA304I5.1 Summary Predicted to enable lipoprotein lipase activity. Predicted to be involved in cornification. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 5.3), stomach (RPKM 0.7) and 2 other tissues See more Orthologs all
LIPN, Official Symbol LIPNprovided by HGNC Official Full Name lipase family member Nprovided by HGNC Primary source HGNC:HGNC:23452 See related Ensembl:ENSG00000204020 MIM:613924; AllianceGenome:HGNC:23452 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 LI4; ARCI8; LIPL4; bA186O14.3 Summary The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011] Expression Biased expression in skin (RPKM 5.7), appendix (RPKM 0.9) and 1 other tissue See more Orthologs all
LIPT1, Official Symbol LIPT1provided by HGNC Official Full Name lipoyltransferase 1provided by HGNC Primary source HGNC:HGNC:29569 See related Ensembl:ENSG00000144182 MIM:610284; AllianceGenome:HGNC:29569 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 LIPT1D Summary The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
LIPT2, Official Symbol LIPT2provided by HGNC Official Full Name lipoyl(octanoyl) transferase 2provided by HGNC Primary source HGNC:HGNC:37216 See related Ensembl:ENSG00000175536 MIM:617659; AllianceGenome:HGNC:37216 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 Summary This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016] Expression Ubiquitous expression in testis (RPKM 2.4), kidney (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
LITAF, Official Symbol LITAFprovided by HGNC Official Full Name lipopolysaccharide induced TNF factorprovided by HGNC Primary source HGNC:HGNC:16841 See related Ensembl:ENSG00000189067 MIM:603795; AllianceGenome:HGNC:16841 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 PIG7; SIMPLE; TP53I7 Summary Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in appendix (RPKM 52.8), thyroid (RPKM 42.1) and 25 other tissues See more Orthologs mouse all
LITAFD, Official Symbol LITAFDprovided by HGNC Official Full Name LITAF domain containingprovided by HGNC Primary source HGNC:HGNC:53927 See related Ensembl:ENSG00000283516 AllianceGenome:HGNC:53927 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. Predicted to be located in lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 1.1), brain (RPKM 0.3) and 23 other tissues See more Orthologs mouse all
LIVAR, Official Symbol LIVARprovided by HGNC Official Full Name liver cell viability associated lncRNAprovided by HGNC Primary source HGNC:HGNC:53130 See related AllianceGenome:HGNC:53130 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 lnc18q22.2 Expression Biased expression in liver (RPKM 1.2), heart (RPKM 0.4) and 3 other tissues See more
LIX1, Official Symbol LIX1provided by HGNC Official Full Name limb and CNS expressed 1provided by HGNC Primary source HGNC:HGNC:18581 See related Ensembl:ENSG00000145721 MIM:610466; AllianceGenome:HGNC:18581 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 Lft; C5orf11 Summary Predicted to be involved in autophagosome maturation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 14.2), thyroid (RPKM 2.1) and 1 other tissue See more Orthologs mouse all
LIX1-AS1, Official Symbol LIX1-AS1provided by HGNC Official Full Name LIX1 and RIOK2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:52976 See related AllianceGenome:HGNC:52976 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
LIX1L, Official Symbol LIX1Lprovided by HGNC Official Full Name limb and CNS expressed 1 likeprovided by HGNC Primary source HGNC:HGNC:28715 See related Ensembl:ENSG00000271601 AllianceGenome:HGNC:28715 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 involved in autophagosome maturation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 17.6), endometrium (RPKM 13.1) and 24 other tissues See more Orthologs mouse all
LIX1L-AS1, Official Symbol LIX1L-AS1provided by HGNC Official Full Name LIX1L antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41210 See related Ensembl:ENSG00000234222 AllianceGenome:HGNC:41210 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 2.3), bone marrow (RPKM 2.3) and 25 other tissues See more
LKAAEAR1, Official Symbol LKAAEAR1provided by HGNC Official Full Name LKAAEAR motif containing 1provided by HGNC Primary source HGNC:HGNC:33718 See related Ensembl:ENSG00000171695 AllianceGenome:HGNC:33718 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 C20orf201 Expression Low expression observed in reference dataset See more Orthologs mouse all
LL0XNC01-250H12.3, Gene symbol LL0XNC01-250H12.3 Gene description uncharacterized LL0XNC01-250H12.3 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
LL22NC01-81G9.3, Gene symbol LL22NC01-81G9.3 Gene description uncharacterized protein FLJ39582-like See related Ensembl:ENSG00000215403 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
LL22NC03-102D1.18, Gene symbol LL22NC03-102D1.18 Gene description uncharacterized LL22NC03-102D1.18 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
LL22NC03-13G6.2, Gene symbol LL22NC03-13G6.2 Gene description uncharacterized LL22NC03-13G6.2 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 Restricted expression toward brain (RPKM 1.1) See more
LL22NC03-63E9.3, Gene symbol LL22NC03-63E9.3 Gene description uncharacterized LOC648691 See related Ensembl:ENSG00000220891 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
LLCFC1, Official Symbol LLCFC1provided by HGNC Official Full Name LLLL and CFNLAS motif containing 1provided by HGNC Primary source HGNC:HGNC:21750 See related Ensembl:ENSG00000165131 MIM:618946; AllianceGenome:HGNC:21750 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 SOF1; ctm-1; C7orf34 Summary Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 14.8) See more Orthologs mouse all
LLGL1, Official Symbol LLGL1provided by HGNC Official Full Name LLGL scribble cell polarity complex component 1provided by HGNC Primary source HGNC:HGNC:6628 See related Ensembl:ENSG00000131899 MIM:600966; AllianceGenome:HGNC:6628 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 DLG4; HUGL; LLGL; Lgl1; Mgl1; HUGL1; HUGL-1 Summary This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 15.9), testis (RPKM 7.8) and 23 other tissues See more Orthologs mouse all
LLGL2, Official Symbol LLGL2provided by HGNC Official Full Name LLGL scribble cell polarity complex component 2provided by HGNC Primary source HGNC:HGNC:6629 See related Ensembl:ENSG00000073350 MIM:618483; AllianceGenome:HGNC:6629 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 HGL; LGL2; Hugl-2 Summary The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in stomach (RPKM 24.5), colon (RPKM 24.0) and 22 other tissues See more Orthologs mouse all
LLPH, Official Symbol LLPHprovided by HGNC Official Full Name LLP homolog, long-term synaptic facilitation factorprovided by HGNC Primary source HGNC:HGNC:28229 See related Ensembl:ENSG00000139233 MIM:616998; AllianceGenome:HGNC:28229 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 hLLP; C12orf31 Summary Enables RNA binding activity. Predicted to be involved in dendrite extension and positive regulation of dendritic spine development. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 19.2), bone marrow (RPKM 19.1) and 25 other tissues See more Orthologs mouse all
LLPH-DT, Official Symbol LLPH-DTprovided by HGNC Official Full Name LLPH divergent transcriptprovided by HGNC Primary source HGNC:HGNC:50493 See related Ensembl:ENSG00000239335 AllianceGenome:HGNC:50493 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 LLPH-AS1 Expression Low expression observed in reference dataset See more
LLPHP1, Official Symbol LLPHP1provided by HGNC Official Full Name LLPH pseudogene 1provided by HGNC Primary source HGNC:HGNC:50491 See related Ensembl:ENSG00000270793 AllianceGenome:HGNC:50491 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LMAN1, Official Symbol LMAN1provided by HGNC Official Full Name lectin, mannose binding 1provided by HGNC Primary source HGNC:HGNC:6631 See related Ensembl:ENSG00000074695 MIM:601567; AllianceGenome:HGNC:6631 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 MR60; gp58; F5F8D; FMFD1; MCFD1; ERGIC53; ERGIC-53 Summary The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015] Expression Ubiquitous expression in thyroid (RPKM 65.5), liver (RPKM 54.8) and 25 other tissues See more Orthologs mouse all
LMAN1L, Official Symbol LMAN1Lprovided by HGNC Official Full Name lectin, mannose binding 1 likeprovided by HGNC Primary source HGNC:HGNC:6632 See related Ensembl:ENSG00000140506 MIM:609548; AllianceGenome:HGNC:6632 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 ERGL; ERGIC-53L Summary This gene encodes a mannose-binding type 1 transmembrane protein that contains an N-terminal lectin-like carbohydrate recognition domain. The encoded protein is similar in structure to lectins found in leguminous plants. This lectin is thought to transport newly synthesized glycoproteins from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment. [provided by RefSeq, Jan 2017] Expression Biased expression in prostate (RPKM 62.2), spleen (RPKM 25.8) and 2 other tissues See more Orthologs mouse all
LMAN2, Official Symbol LMAN2provided by HGNC Official Full Name lectin, mannose binding 2provided by HGNC Primary source HGNC:HGNC:16986 See related Ensembl:ENSG00000169223 MIM:609551; AllianceGenome:HGNC:16986 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 GP36B; VIP36; C5orf8 Summary This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in thyroid (RPKM 56.0), testis (RPKM 45.6) and 25 other tissues See more Orthologs mouse all
LMAN2L, Official Symbol LMAN2Lprovided by HGNC Official Full Name lectin, mannose binding 2 likeprovided by HGNC Primary source HGNC:HGNC:19263 See related Ensembl:ENSG00000114988 MIM:609552; AllianceGenome:HGNC:19263 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 VIPL; MRD69; MRT52 Summary This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in ovary (RPKM 11.7), thyroid (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
LMBR1, Official Symbol LMBR1provided by HGNC Official Full Name limb development membrane protein 1provided by HGNC Primary source HGNC:HGNC:13243 See related Ensembl:ENSG00000105983 MIM:605522; AllianceGenome:HGNC:13243 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 LSS; TPT; ZRS; ACHP; PPD2; THYP; DIF14; TPTPS; C7orf2 Summary This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 9.4), adrenal (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
LMBR1L, Official Symbol LMBR1Lprovided by HGNC Official Full Name limb development membrane protein 1 likeprovided by HGNC Primary source HGNC:HGNC:18268 See related Ensembl:ENSG00000139636 MIM:610007; AllianceGenome:HGNC:18268 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 LIMR Summary Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 15.2), endometrium (RPKM 7.0) and 24 other tissues See more Orthologs mouse all
LMBRD1, Official Symbol LMBRD1provided by HGNC Official Full Name LMBR1 domain containing 1provided by HGNC Primary source HGNC:HGNC:23038 See related Ensembl:ENSG00000168216 MIM:612625; AllianceGenome:HGNC:23038 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 NESI; LMBD1; MAHCF; C6orf209 Summary This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in adrenal (RPKM 45.7), kidney (RPKM 42.7) and 25 other tissues See more Orthologs mouse all
LMBRD2, Official Symbol LMBRD2provided by HGNC Official Full Name LMBR1 domain containing 2provided by HGNC Primary source HGNC:HGNC:25287 See related Ensembl:ENSG00000164187 MIM:619490; AllianceGenome:HGNC:25287 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 DENBA Summary Involved in adrenergic receptor signaling pathway. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 10.2), thyroid (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
LMCD1, Official Symbol LMCD1provided by HGNC Official Full Name LIM and cysteine rich domains 1provided by HGNC Primary source HGNC:HGNC:6633 See related Ensembl:ENSG00000071282 MIM:604859; AllianceGenome:HGNC:6633 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 Summary This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] Expression Broad expression in lung (RPKM 21.9), fat (RPKM 21.1) and 24 other tissues See more Orthologs mouse all
LMCD1-AS1, Official Symbol LMCD1-AS1provided by HGNC Official Full Name LMCD1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44477 See related Ensembl:ENSG00000227110 AllianceGenome:HGNC:44477 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
LMF1, Official Symbol LMF1provided by HGNC Official Full Name lipase maturation factor 1provided by HGNC Primary source HGNC:HGNC:14154 See related Ensembl:ENSG00000103227 MIM:611761; AllianceGenome:HGNC:14154 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 JFP11; TMEM112; C16orf26; HMFN1876; TMEM112A Summary Involved in triglyceride metabolic process. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial lipase maturation factor 1 deficiency. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 6.7), salivary gland (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
LMF1-AS1, Official Symbol LMF1-AS1provided by HGNC Official Full Name LMF1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50469 See related Ensembl:ENSG00000260439 AllianceGenome:HGNC:50469 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 LA16c-366D3.1 Expression Broad expression in placenta (RPKM 1.1), spleen (RPKM 0.7) and 21 other tissues See more
LMF2, Official Symbol LMF2provided by HGNC Official Full Name lipase maturation factor 2provided by HGNC Primary source HGNC:HGNC:25096 See related Ensembl:ENSG00000100258 AllianceGenome:HGNC:25096 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 TMEM153; TMEM112B Summary Predicted to be involved in protein maturation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in pancreas (RPKM 20.5), spleen (RPKM 16.6) and 25 other tissues See more Orthologs mouse all
LMLN, Official Symbol LMLNprovided by HGNC Official Full Name leishmanolysin like peptidaseprovided by HGNC Primary source HGNC:HGNC:15991 See related Ensembl:ENSG00000185621 MIM:609380; AllianceGenome:HGNC:15991 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 INV; MSP; GP63; IX14; LMNL1 Summary This gene encodes a zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] Expression Broad expression in testis (RPKM 8.5), thyroid (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
LMLN-AS1, Official Symbol LMLN-AS1provided by HGNC Official Full Name LMLN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40738 See related Ensembl:ENSG00000232832 AllianceGenome:HGNC:40738 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 Broad expression in testis (RPKM 12.2), thyroid (RPKM 5.8) and 25 other tissues See more
LMNA, Official Symbol LMNAprovided by HGNC Official Full Name lamin A/Cprovided by HGNC Primary source HGNC:HGNC:6636 See related Ensembl:ENSG00000160789 MIM:150330; AllianceGenome:HGNC:6636 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 FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; MADA; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B Summary The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022] Expression Ubiquitous expression in gall bladder (RPKM 77.9), skin (RPKM 65.3) and 25 other tissues See more Orthologs mouse all
LMNB1, Official Symbol LMNB1provided by HGNC Official Full Name lamin B1provided by HGNC Primary source HGNC:HGNC:6637 See related Ensembl:ENSG00000113368 MIM:150340; AllianceGenome:HGNC:6637 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 LMN; ADLD; LMN2; LMNB; MCPH26 Summary This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Broad expression in lymph node (RPKM 25.5), appendix (RPKM 22.1) and 18 other tissues See more Orthologs mouse all
LMNB1-DT, Official Symbol LMNB1-DTprovided by HGNC Official Full Name LMNB1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:53089 See related Ensembl:ENSG00000251072 AllianceGenome:HGNC:53089 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