psui3905/ncbi_genes_summary huggingface dataset:
LGMN, Official Symbol LGMNprovided by HGNC Official Full Name legumainprovided by HGNC Primary source HGNC:HGNC:9472 See related Ensembl:ENSG00000100600 MIM:602620; AllianceGenome:HGNC:9472 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 AEP; LGMN1; PRSC1 Summary This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 135.7), spleen (RPKM 98.7) and 23 other tissues See more Orthologs mouse all
LGMNP1, Official Symbol LGMNP1provided by HGNC Official Full Name legumain pseudogene 1provided by HGNC Primary source HGNC:HGNC:23079 See related AllianceGenome:HGNC:23079 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LGMN2P
LGR4, Official Symbol LGR4provided by HGNC Official Full Name leucine rich repeat containing G protein-coupled receptor 4provided by HGNC Primary source HGNC:HGNC:13299 See related Ensembl:ENSG00000205213 MIM:606666; AllianceGenome:HGNC:13299 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 DPSL; GPR48; BNMD17 Summary The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in kidney (RPKM 28.0), colon (RPKM 27.7) and 23 other tissues See more Orthologs mouse all
LGR4-AS1, Official Symbol LGR4-AS1provided by HGNC Official Full Name LGR4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40629 See related Ensembl:ENSG00000254862 AllianceGenome:HGNC:40629 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 lnc-BBOX1-1 Expression Biased expression in kidney (RPKM 3.6), colon (RPKM 2.6) and 12 other tissues See more Orthologs all
LGR5, Official Symbol LGR5provided by HGNC Official Full Name leucine rich repeat containing G protein-coupled receptor 5provided by HGNC Primary source HGNC:HGNC:4504 See related Ensembl:ENSG00000139292 MIM:606667; AllianceGenome:HGNC:4504 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 FEX; HG38; GPR49; GPR67; GRP49 Summary The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] Expression Biased expression in placenta (RPKM 11.9), small intestine (RPKM 3.2) and 8 other tissues See more Orthologs mouse all
LGR6, Official Symbol LGR6provided by HGNC Official Full Name leucine rich repeat containing G protein-coupled receptor 6provided by HGNC Primary source HGNC:HGNC:19719 See related Ensembl:ENSG00000133067 MIM:606653; AllianceGenome:HGNC:19719 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 GPCR; VTS20631 Summary This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 3.1), testis (RPKM 2.2) and 22 other tissues See more Orthologs mouse all
LGSN, Official Symbol LGSNprovided by HGNC Official Full Name lengsin, lens protein with glutamine synthetase domainprovided by HGNC Primary source HGNC:HGNC:21016 See related Ensembl:ENSG00000146166 MIM:611470; AllianceGenome:HGNC:21016 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 LGS; GLULD1 Summary This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
LHB, Official Symbol LHBprovided by HGNC Official Full Name luteinizing hormone subunit betaprovided by HGNC Primary source HGNC:HGNC:6584 See related Ensembl:ENSG00000104826 MIM:152780; AllianceGenome:HGNC:6584 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 CGB4; HH23; LSH-B; LSH-beta Summary This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008] Expression Biased expression in pancreas (RPKM 1.7), testis (RPKM 1.1) and 7 other tissues See more Orthologs mouse all
LHCGR, Official Symbol LHCGRprovided by HGNC Official Full Name luteinizing hormone/choriogonadotropin receptorprovided by HGNC Primary source HGNC:HGNC:6585 See related Ensembl:ENSG00000138039 MIM:152790; AllianceGenome:HGNC:6585 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 HHG; LHR; LCGR; LGR2; ULG5; LHRHR; LSH-R; LH/CGR; LH/CG-R Summary This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
LHFPL1, Official Symbol LHFPL1provided by HGNC Official Full Name LHFPL tetraspan subfamily member 1provided by HGNC Primary source HGNC:HGNC:6587 See related Ensembl:ENSG00000182508 MIM:300566; AllianceGenome:HGNC:6587 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 is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
LHFPL2, Official Symbol LHFPL2provided by HGNC Official Full Name LHFPL tetraspan subfamily member 2provided by HGNC Primary source HGNC:HGNC:6588 See related Ensembl:ENSG00000145685 MIM:609718; AllianceGenome:HGNC:6588 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 is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in gall bladder (RPKM 15.4), urinary bladder (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
LHFPL3, Official Symbol LHFPL3provided by HGNC Official Full Name LHFPL tetraspan subfamily member 3provided by HGNC Primary source HGNC:HGNC:6589 See related Ensembl:ENSG00000187416 MIM:609719; AllianceGenome:HGNC:6589 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 LHFPL4 Summary This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 18.4) and lung (RPKM 1.0) See more Orthologs mouse all
LHFPL3-AS1, Official Symbol LHFPL3-AS1provided by HGNC Official Full Name LHFPL3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40341 See related Ensembl:ENSG00000226869 AllianceGenome:HGNC:40341 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
LHFPL3-AS2, Official Symbol LHFPL3-AS2provided by HGNC Official Full Name LHFPL3 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:44106 See related Ensembl:ENSG00000225329 AllianceGenome:HGNC:44106 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as lncPENG Expression Biased expression in kidney (RPKM 5.8), lung (RPKM 5.4) and 5 other tissues See more
LHFPL4, Official Symbol LHFPL4provided by HGNC Official Full Name LHFPL tetraspan subfamily member 4provided by HGNC Primary source HGNC:HGNC:29568 See related Ensembl:ENSG00000156959 MIM:610240; AllianceGenome:HGNC:29568 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 GARLH4 Summary This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 3.9) and adrenal (RPKM 0.5) See more Orthologs mouse all
LHFPL5, Official Symbol LHFPL5provided by HGNC Official Full Name LHFPL tetraspan subfamily member 5provided by HGNC Primary source HGNC:HGNC:21253 See related Ensembl:ENSG00000197753 MIM:609427; AllianceGenome:HGNC:21253 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 TMHS; DFNB67; dJ510O8.8 Summary This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
LHFPL6, Official Symbol LHFPL6provided by HGNC Official Full Name LHFPL tetraspan subfamily member 6provided by HGNC Primary source HGNC:HGNC:6586 See related Ensembl:ENSG00000183722 MIM:606710; AllianceGenome:HGNC:6586 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 LHFP Summary This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 71.3), placenta (RPKM 69.6) and 23 other tissues See more Orthologs mouse all
LHPP, Official Symbol LHPPprovided by HGNC Official Full Name phospholysine phosphohistidine inorganic pyrophosphate phosphataseprovided by HGNC Primary source HGNC:HGNC:30042 See related Ensembl:ENSG00000107902 MIM:617231; AllianceGenome:HGNC:30042 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 HDHD2B Summary Enables inorganic diphosphatase activity and protein homodimerization activity. Involved in phosphate-containing compound metabolic process. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.5), kidney (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
LHX1, Official Symbol LHX1provided by HGNC Official Full Name LIM homeobox 1provided by HGNC Primary source HGNC:HGNC:6593 See related Ensembl:ENSG00000273706 MIM:601999; AllianceGenome:HGNC:6593 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 LIM1; LIM-1 Summary This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010] Expression Restricted expression toward kidney (RPKM 4.6) See more Orthologs mouse all
LHX1-DT, Official Symbol LHX1-DTprovided by HGNC Official Full Name LHX1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:53778 See related Ensembl:ENSG00000277268 AllianceGenome:HGNC:53778 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 lnc-ACACA-1 Expression Restricted expression toward kidney (RPKM 3.6) See more
LHX2, Official Symbol LHX2provided by HGNC Official Full Name LIM homeobox 2provided by HGNC Primary source HGNC:HGNC:6594 See related Ensembl:ENSG00000106689 MIM:603759; AllianceGenome:HGNC:6594 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 LH2; hLhx2 Summary This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 8.5), placenta (RPKM 1.0) and 2 other tissues See more Orthologs mouse all
LHX3, Official Symbol LHX3provided by HGNC Official Full Name LIM homeobox 3provided by HGNC Primary source HGNC:HGNC:6595 See related Ensembl:ENSG00000107187 MIM:600577; AllianceGenome:HGNC:6595 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 LIM3; CPHD3; M2-LHX3 Summary This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
LHX4, Official Symbol LHX4provided by HGNC Official Full Name LIM homeobox 4provided by HGNC Primary source HGNC:HGNC:21734 See related Ensembl:ENSG00000121454 MIM:602146; AllianceGenome:HGNC:21734 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 CPHD4 Summary This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in testis (RPKM 1.2), placenta (RPKM 0.8) and 24 other tissues See more Orthologs mouse all
LHX5, Official Symbol LHX5provided by HGNC Official Full Name LIM homeobox 5provided by HGNC Primary source HGNC:HGNC:14216 See related Ensembl:ENSG00000089116 MIM:605992; AllianceGenome:HGNC:14216 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 protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
LHX6, Official Symbol LHX6provided by HGNC Official Full Name LIM homeobox 6provided by HGNC Primary source HGNC:HGNC:21735 See related Ensembl:ENSG00000106852 MIM:608215; AllianceGenome:HGNC:21735 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 hLHX6; LHX6.1 Summary This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein has tandem LIM domains as well as a DNA-binding homeodomain. The protein functions as a transcription factor involved in embryogenesis and head development and is highly expressed in neural crest derived mesenchyme cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017] Expression Broad expression in fat (RPKM 1.9), brain (RPKM 1.8) and 20 other tissues See more Orthologs mouse all
LHX8, Official Symbol LHX8provided by HGNC Official Full Name LIM homeobox 8provided by HGNC Primary source HGNC:HGNC:28838 See related Ensembl:ENSG00000162624 MIM:604425; AllianceGenome:HGNC:28838 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 LHX7 Summary The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
LHX9, Official Symbol LHX9provided by HGNC Official Full Name LIM homeobox 9provided by HGNC Primary source HGNC:HGNC:14222 See related Ensembl:ENSG00000143355 MIM:606066; AllianceGenome:HGNC:14222 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 homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Biased expression in ovary (RPKM 2.6), testis (RPKM 0.9) and 1 other tissue See more Orthologs mouse all
LIAS, Official Symbol LIASprovided by HGNC Official Full Name lipoic acid synthetaseprovided by HGNC Primary source HGNC:HGNC:16429 See related Ensembl:ENSG00000121897 MIM:607031; AllianceGenome:HGNC:16429 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 LS; LAS; LIP1; PDHLD; HGCLAS; HUSSY-01 Summary The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020] Expression Ubiquitous expression in testis (RPKM 5.3), ovary (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
LIF, Official Symbol LIFprovided by HGNC Official Full Name LIF interleukin 6 family cytokineprovided by HGNC Primary source HGNC:HGNC:6596 See related Ensembl:ENSG00000128342 MIM:159540; AllianceGenome:HGNC:6596 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 CDF; DIA; HILDA; MLPLI Summary The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] Expression Broad expression in gall bladder (RPKM 20.9), appendix (RPKM 11.6) and 16 other tissues See more Orthologs mouse all
LIF-AS1, Official Symbol LIF-AS1provided by HGNC Official Full Name LIF antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53473 See related Ensembl:ENSG00000232530 AllianceGenome:HGNC:53473 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 Lnc-LIF-AS
LIF-AS2, Official Symbol LIF-AS2provided by HGNC Official Full Name LIF antisense RNA 2provided by HGNC Primary source HGNC:HGNC:28298 See related Ensembl:ENSG00000268812 AllianceGenome:HGNC:28298 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 TP53LC08
LIFR, Official Symbol LIFRprovided by HGNC Official Full Name LIF receptor subunit alphaprovided by HGNC Primary source HGNC:HGNC:6597 See related Ensembl:ENSG00000113594 MIM:151443; AllianceGenome:HGNC:6597 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 SWS; SJS2; STWS; CD118; LIF-R Summary This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018] Expression Ubiquitous expression in fat (RPKM 34.2), endometrium (RPKM 21.9) and 24 other tissues See more Orthologs mouse all
LIFR-AS1, Official Symbol LIFR-AS1provided by HGNC Official Full Name LIFR antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43600 See related Ensembl:ENSG00000244968 AllianceGenome:HGNC:43600 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 thyroid (RPKM 1.5), brain (RPKM 1.4) and 23 other tissues See more
LIG1, Official Symbol LIG1provided by HGNC Official Full Name DNA ligase 1provided by HGNC Primary source HGNC:HGNC:6598 See related Ensembl:ENSG00000105486 MIM:126391; AllianceGenome:HGNC:6598 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 LIGI; IMD96; hLig1 Summary This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Broad expression in bone marrow (RPKM 13.9), lymph node (RPKM 9.7) and 24 other tissues See more Orthologs mouse all
LIG3, Official Symbol LIG3provided by HGNC Official Full Name DNA ligase 3provided by HGNC Primary source HGNC:HGNC:6600 See related Ensembl:ENSG00000005156 MIM:600940; AllianceGenome:HGNC:6600 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 LIG2; MTDPS20; LIG3alpha Summary This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
LIG4, Official Symbol LIG4provided by HGNC Official Full Name DNA ligase 4provided by HGNC Primary source HGNC:HGNC:6601 See related Ensembl:ENSG00000174405 MIM:601837; AllianceGenome:HGNC:6601 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 LIG4S Summary The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 5.8), testis (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
LILRA1, Official Symbol LILRA1provided by HGNC Official Full Name leukocyte immunoglobulin like receptor A1provided by HGNC Primary source HGNC:HGNC:6602 See related Ensembl:ENSG00000104974 MIM:604810; AllianceGenome:HGNC:6602 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 LIR6; CD85I; LIR-6 Summary This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Expression Biased expression in appendix (RPKM 8.6), spleen (RPKM 6.8) and 6 other tissues See more Orthologs all
LILRA2, Official Symbol LILRA2provided by HGNC Official Full Name leukocyte immunoglobulin like receptor A2provided by HGNC Primary source HGNC:HGNC:6603 See related Ensembl:ENSG00000239998 MIM:604812; AllianceGenome:HGNC:6603 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 ILT1; LIR7; CD85H; LIR-7 Summary This gene encodes a member of a family of immunoreceptors that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protein is an activating receptor that inhibits dendritic cell differentiation and antigen presentation and suppresses innate immune response. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and there is a pseudogene for this gene on chromosome 3. [provided by RefSeq, Mar 2014] Expression Biased expression in bone marrow (RPKM 15.6), spleen (RPKM 8.6) and 5 other tissues See more Orthologs all
LILRA4, Official Symbol LILRA4provided by HGNC Official Full Name leukocyte immunoglobulin like receptor A4provided by HGNC Primary source HGNC:HGNC:15503 See related Ensembl:ENSG00000239961 MIM:607517; AllianceGenome:HGNC:15503 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 ILT7; CD85g Summary This gene encodes an immunoglobulin-like cell surface protein that is expressed predominantly on plasmacytoid dendritic cells (PDCs) and modulates the function of these cells in the immune response. Expression of this gene is downregulated by interleukin 3 (IL3). This gene is one of a cluster of highly related genes located at chromosomal region 19q13.4. [provided by RefSeq, Jan 2015] Expression Biased expression in spleen (RPKM 5.0), lymph node (RPKM 4.4) and 6 other tissues See more Orthologs all
LILRA5, Official Symbol LILRA5provided by HGNC Official Full Name leukocyte immunoglobulin like receptor A5provided by HGNC Primary source HGNC:HGNC:16309 See related Ensembl:ENSG00000187116 MIM:606047; AllianceGenome:HGNC:16309 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 CD85; LIR9; CD85F; ILT11; LIR-9; ILT-11; LILRB7 Summary The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in appendix (RPKM 29.5), bone marrow (RPKM 22.9) and 4 other tissues See more Orthologs all
LILRA6, Official Symbol LILRA6provided by HGNC Official Full Name leukocyte immunoglobulin like receptor A6provided by HGNC Primary source HGNC:HGNC:15495 See related Ensembl:ENSG00000244482 AllianceGenome:HGNC:15495 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 ILT5; ILT8; CD85b; ILT-8; LILRB3; LILRB6 Summary Predicted to enable inhibitory MHC class I receptor activity. Predicted to be involved in cytokine-mediated signaling pathway. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in appendix (RPKM 13.1), spleen (RPKM 5.9) and 7 other tissues See more Orthologs all
LILRB1, Official Symbol LILRB1provided by HGNC Official Full Name leukocyte immunoglobulin like receptor B1provided by HGNC Primary source HGNC:HGNC:6605 See related Ensembl:ENSG00000104972 MIM:604811; AllianceGenome:HGNC:6605 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 ILT2; LIR1; MIR7; PIRB; CD85J; ILT-2; LIR-1; MIR-7; PIR-B Summary This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in appendix (RPKM 25.9), spleen (RPKM 20.5) and 10 other tissues See more Orthologs all
LILRB2, Official Symbol LILRB2provided by HGNC Official Full Name leukocyte immunoglobulin like receptor B2provided by HGNC Primary source HGNC:HGNC:6606 See related Ensembl:ENSG00000131042 MIM:604815; AllianceGenome:HGNC:6606 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 ILT4; LIR2; CD85D; ILT-4; LIR-2; MIR10; MIR-10 Summary This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in appendix (RPKM 54.6), bone marrow (RPKM 26.2) and 5 other tissues See more Orthologs all
LILRB3, Official Symbol LILRB3provided by HGNC Official Full Name leukocyte immunoglobulin like receptor B3provided by HGNC Primary source HGNC:HGNC:6607 See related Ensembl:ENSG00000204577 MIM:604820; AllianceGenome:HGNC:6607 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 HL9; ILT5; LIR3; PIRB; CD85A; ILT-5; LIR-3; PIR-B; LILRA6 Summary This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in appendix (RPKM 14.3), bone marrow (RPKM 8.1) and 7 other tissues See more Orthologs mouse all
LILRB4, Official Symbol LILRB4provided by HGNC Official Full Name leukocyte immunoglobulin like receptor B4provided by HGNC Primary source HGNC:HGNC:6608 See related Ensembl:ENSG00000186818 MIM:604821; AllianceGenome:HGNC:6608 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 B4; ILT3; LIR5; CD85K; ILT-3; LIR-5 Summary This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 9.2), lymph node (RPKM 8.1) and 17 other tissues See more Orthologs all
LILRB5, Official Symbol LILRB5provided by HGNC Official Full Name leukocyte immunoglobulin like receptor B5provided by HGNC Primary source HGNC:HGNC:6609 See related Ensembl:ENSG00000105609 MIM:604814; AllianceGenome:HGNC:6609 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 LIR8; CD85C; LIR-8 Summary This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 27.4), placenta (RPKM 7.8) and 15 other tissues See more Orthologs all
LILRP2, Official Symbol LILRP2provided by HGNC Official Full Name leukocyte immunoglobulin-like receptor pseudogene 2provided by HGNC Primary source HGNC:HGNC:15497 See related Ensembl:ENSG00000170858 AllianceGenome:HGNC:15497 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CD85m; ILT10; LILRA5 Expression Low expression observed in reference dataset See more