psui3905/ncbi_genes_summary huggingface dataset:
HYDIN, Official Symbol HYDINprovided by HGNC Official Full Name HYDIN axonemal central pair apparatus proteinprovided by HGNC Primary source HGNC:HGNC:19368 See related Ensembl:ENSG00000157423 MIM:610812; AllianceGenome:HGNC:19368 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 CILD5; HYDIN1; HYDIN2; PPP1R31 Summary This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013] Expression Biased expression in testis (RPKM 2.3), lung (RPKM 0.8) and 8 other tissues See more Orthologs mouse all
HYDIN2, Official Symbol HYDIN2provided by HGNC Official Full Name HYDIN axonemal central pair apparatus protein 2 (pseudogene)provided by HGNC Primary source HGNC:HGNC:33129 See related MIM:610813; AllianceGenome:HGNC:33129 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 HYDINP1 Expression Biased expression in testis (RPKM 2.1), brain (RPKM 0.8) and 12 other tissues See more
HYI, Official Symbol HYIprovided by HGNC Official Full Name hydroxypyruvate isomerase (putative)provided by HGNC Primary source HGNC:HGNC:26948 See related Ensembl:ENSG00000178922 MIM:619128; AllianceGenome:HGNC:26948 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 HT036 Summary This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in fat (RPKM 17.6), duodenum (RPKM 14.4) and 25 other tissues See more Orthologs all
HYI-AS1, Official Symbol HYI-AS1provided by HGNC Official Full Name HYI antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41173 See related Ensembl:ENSG00000229348 AllianceGenome:HGNC:41173 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HYKK, Official Symbol HYKKprovided by HGNC Official Full Name hydroxylysine kinaseprovided by HGNC Primary source HGNC:HGNC:34403 See related Ensembl:ENSG00000188266 MIM:614681; AllianceGenome:HGNC:34403 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 AGPHD1 Summary Enables hydroxylysine kinase activity. Predicted to be involved in lysine catabolic process. Predicted to be located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 1.5), duodenum (RPKM 1.5) and 24 other tissues See more Orthologs mouse all
HYLS1, Official Symbol HYLS1provided by HGNC Official Full Name HYLS1 centriolar and ciliogenesis associatedprovided by HGNC Primary source HGNC:HGNC:26558 See related Ensembl:ENSG00000198331 MIM:610693; AllianceGenome:HGNC:26558 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 HLS Summary This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008] Expression Broad expression in testis (RPKM 4.6), duodenum (RPKM 0.9) and 23 other tissues See more Orthologs mouse all
HYMAI, Official Symbol HYMAIprovided by HGNC Official Full Name hydatidiform mole associated and imprintedprovided by HGNC Primary source HGNC:HGNC:5326 See related Ensembl:ENSG00000283122 MIM:606546; AllianceGenome:HGNC:5326 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NCRNA00020 Summary This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010] Orthologs mouse all
HYOU1, Official Symbol HYOU1provided by HGNC Official Full Name hypoxia up-regulated 1provided by HGNC Primary source HGNC:HGNC:16931 See related Ensembl:ENSG00000149428 MIM:601746; AllianceGenome:HGNC:16931 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 IMD59; Grp170; HSP12A; ORP150; GRP-170; ORP-150 Summary The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Broad expression in thyroid (RPKM 93.3), testis (RPKM 55.6) and 25 other tissues See more Orthologs mouse all
HYPK, Official Symbol HYPKprovided by HGNC Official Full Name huntingtin interacting protein Kprovided by HGNC Primary source HGNC:HGNC:18418 See related Ensembl:ENSG00000242028 MIM:612784; AllianceGenome:HGNC:18418 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 HSPC136; C15orf63 Summary Enables protein N-terminus binding activity. Involved in negative regulation of apoptotic process and protein stabilization. Located in cytoplasm; microtubule cytoskeleton; and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 18.1), prostate (RPKM 18.1) and 25 other tissues See more Orthologs mouse all
IAH1, Official Symbol IAH1provided by HGNC Official Full Name isoamyl acetate hydrolyzing esterase 1 (putative)provided by HGNC Primary source HGNC:HGNC:27696 See related Ensembl:ENSG00000134330 AllianceGenome:HGNC:27696 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables identical protein binding activity. Predicted to be involved in lipid catabolic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.4), adrenal (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
IAPP, Official Symbol IAPPprovided by HGNC Official Full Name islet amyloid polypeptideprovided by HGNC Primary source HGNC:HGNC:5329 See related Ensembl:ENSG00000121351 MIM:147940; AllianceGenome:HGNC:5329 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 DAP; IAP Summary This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016] Expression Restricted expression toward pancreas (RPKM 16.6) See more Orthologs mouse all
IARS1, Official Symbol IARS1provided by HGNC Official Full Name isoleucyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:5330 See related Ensembl:ENSG00000196305 MIM:600709; AllianceGenome:HGNC:5330 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 IRS; IARS; ILRS; ILERS; GRIDHH; PRO0785 Summary Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in thyroid (RPKM 50.6), appendix (RPKM 20.9) and 25 other tissues See more Orthologs mouse all
IARS2, Official Symbol IARS2provided by HGNC Official Full Name isoleucyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:29685 See related Ensembl:ENSG00000067704 MIM:612801; AllianceGenome:HGNC:29685 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 ILERS; CAGSSS Summary Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in fat (RPKM 38.4), kidney (RPKM 32.0) and 25 other tissues See more Orthologs mouse all
IARS2P1, Official Symbol IARS2P1provided by HGNC Official Full Name IARS2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:50474 See related Ensembl:ENSG00000251563 AllianceGenome:HGNC:50474 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IBA57, Official Symbol IBA57provided by HGNC Official Full Name iron-sulfur cluster assembly factor IBA57provided by HGNC Primary source HGNC:HGNC:27302 See related Ensembl:ENSG00000181873 MIM:615316; AllianceGenome:HGNC:27302 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 MMDS3; SPG74; C1orf69 Summary The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015] Expression Ubiquitous expression in kidney (RPKM 1.9), bone marrow (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
IBA57-DT, Official Symbol IBA57-DTprovided by HGNC Official Full Name IBA57 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:32062 See related Ensembl:ENSG00000203684 AllianceGenome:HGNC:32062 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 C1orf148; IBA57-AS1 Expression Biased expression in testis (RPKM 4.5), brain (RPKM 1.1) and 4 other tissues See more
IBSP, Official Symbol IBSPprovided by HGNC Official Full Name integrin binding sialoproteinprovided by HGNC Primary source HGNC:HGNC:5341 See related Ensembl:ENSG00000029559 MIM:147563; AllianceGenome:HGNC:5341 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 BSP; BNSP; SP-II; BSP-II Summary The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
IBTK, Official Symbol IBTKprovided by HGNC Official Full Name inhibitor of Bruton tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:17853 See related Ensembl:ENSG00000005700 MIM:606457; AllianceGenome:HGNC:17853 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 BTKI; BTBD26 Summary Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in adrenal (RPKM 16.4), thyroid (RPKM 13.7) and 25 other tissues See more Orthologs mouse all
ICA1, Official Symbol ICA1provided by HGNC Official Full Name islet cell autoantigen 1provided by HGNC Primary source HGNC:HGNC:5343 See related Ensembl:ENSG00000003147 MIM:147625; AllianceGenome:HGNC:5343 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 ICA69; ICAp69 Summary This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] Expression Ubiquitous expression in testis (RPKM 10.6), heart (RPKM 7.8) and 23 other tissues See more Orthologs mouse all
ICA1L, Official Symbol ICA1Lprovided by HGNC Official Full Name islet cell autoantigen 1 likeprovided by HGNC Primary source HGNC:HGNC:14442 See related Ensembl:ENSG00000163596 AllianceGenome:HGNC:14442 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 ALS2CR14; ALS2CR15 Summary Predicted to enable protein domain specific binding activity. Predicted to be involved in regulation of transport. Predicted to act upstream of or within spermatid development. Predicted to be located in acrosomal vesicle. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 3.9), testis (RPKM 2.5) and 22 other tissues See more Orthologs mouse all
ICAM1, Official Symbol ICAM1provided by HGNC Official Full Name intercellular adhesion molecule 1provided by HGNC Primary source HGNC:HGNC:5344 See related Ensembl:ENSG00000090339 MIM:147840; AllianceGenome:HGNC:5344 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 BB2; CD54; P3.58 Summary This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 83.1), bone marrow (RPKM 40.5) and 20 other tissues See more Orthologs mouse all
ICAM2, Official Symbol ICAM2provided by HGNC Official Full Name intercellular adhesion molecule 2provided by HGNC Primary source HGNC:HGNC:5345 See related Ensembl:ENSG00000108622 MIM:146630; AllianceGenome:HGNC:5345 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 CD102 Summary The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 62.3), placenta (RPKM 26.4) and 17 other tissues See more Orthologs mouse all
ICAM3, Official Symbol ICAM3provided by HGNC Official Full Name intercellular adhesion molecule 3provided by HGNC Primary source HGNC:HGNC:5346 See related Ensembl:ENSG00000076662 MIM:146631; AllianceGenome:HGNC:5346 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 CD50; CDW50; ICAM-R Summary The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016] Expression Biased expression in bone marrow (RPKM 55.9), spleen (RPKM 28.5) and 12 other tissues See more Orthologs all
ICAM4, Official Symbol ICAM4provided by HGNC Official Full Name intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)provided by HGNC Primary source HGNC:HGNC:5347 See related Ensembl:ENSG00000105371 MIM:614088; AllianceGenome:HGNC:5347 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 LW; CD242 Summary This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Biased expression in lung (RPKM 3.3), bone marrow (RPKM 3.1) and 13 other tissues See more Orthologs mouse all
ICAM5, Official Symbol ICAM5provided by HGNC Official Full Name intercellular adhesion molecule 5provided by HGNC Primary source HGNC:HGNC:5348 See related Ensembl:ENSG00000105376 MIM:601852; AllianceGenome:HGNC:5348 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 TLN; TLCN Summary The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 11.7), lung (RPKM 3.3) and 1 other tissue See more Orthologs mouse all
ICE1, Official Symbol ICE1provided by HGNC Official Full Name interactor of little elongation complex ELL subunit 1provided by HGNC Primary source HGNC:HGNC:29154 See related Ensembl:ENSG00000164151 MIM:617958; AllianceGenome:HGNC:29154 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 KIAA0947 Summary Enables protein-macromolecule adaptor activity. Involved in several processes, including positive regulation of intracellular protein transport; positive regulation of transcription by RNA polymerase III; and snRNA transcription. Located in Cajal body; histone locus body; and transcriptionally active chromatin. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 7.5), brain (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
ICE2, Official Symbol ICE2provided by HGNC Official Full Name interactor of little elongation complex ELL subunit 2provided by HGNC Primary source HGNC:HGNC:29885 See related Ensembl:ENSG00000128915 MIM:610835; AllianceGenome:HGNC:29885 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 BRCC1; NARG2 Summary This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA Polymerase II occupancy and transcriptional elongation. The encoded protein and other LEC components have been shown to localize to Cajal bodies, which are sites of ribonucleoprotein (RNP) complex assembly. Pseudogenes of this gene have been identified on chromosomes 3 and 4. [provided by RefSeq, May 2017] Expression Ubiquitous expression in thyroid (RPKM 5.8), ovary (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
ICE2P2, Official Symbol ICE2P2provided by HGNC Official Full Name interactor of little elongation complex ELL subunit 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:48857 See related Ensembl:ENSG00000242705 AllianceGenome:HGNC:48857 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 NARG2P2
ICMT, Official Symbol ICMTprovided by HGNC Official Full Name isoprenylcysteine carboxyl methyltransferaseprovided by HGNC Primary source HGNC:HGNC:5350 See related Ensembl:ENSG00000116237 MIM:605851; AllianceGenome:HGNC:5350 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 PCMT; PPMT; PCCMT; HSTE14; MST098; MSTP098 Summary This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme localizes to the endoplasmic reticulum. Alternative splicing may result in other transcript variants, but the biological validity of those transcripts has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 21.7), placenta (RPKM 18.3) and 25 other tissues See more Orthologs mouse all
ICOS, Official Symbol ICOSprovided by HGNC Official Full Name inducible T cell costimulatorprovided by HGNC Primary source HGNC:HGNC:5351 See related Ensembl:ENSG00000163600 MIM:604558; AllianceGenome:HGNC:5351 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 AILIM; CD278; CVID1 Summary The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 7.8), bone marrow (RPKM 6.5) and 9 other tissues See more Orthologs mouse all
ICOSLG, Official Symbol ICOSLGprovided by HGNC Official Full Name inducible T cell costimulator ligandprovided by HGNC Primary source HGNC:HGNC:17087 See related Ensembl:ENSG00000160223 MIM:605717; AllianceGenome:HGNC:17087 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 B7h; B7H2; GL50; B7-H2; B7RP1; CD275; ICOSL; LICOS; B7RP-1; ICOS-L Summary Enables identical protein binding activity. Predicted to be involved in T cell receptor signaling pathway and positive regulation of interleukin-4 production. Located in cytoplasmic ribonucleoprotein granule and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 4.2), lymph node (RPKM 3.4) and 23 other tissues See more Orthologs mouse all
ID1, Official Symbol ID1provided by HGNC Official Full Name inhibitor of DNA binding 1provided by HGNC Primary source HGNC:HGNC:5360 See related Ensembl:ENSG00000125968 MIM:600349; AllianceGenome:HGNC:5360 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 ID; bHLHb24 Summary The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 56.6), colon (RPKM 54.0) and 24 other tissues See more Orthologs mouse all
ID2, Official Symbol ID2provided by HGNC Official Full Name inhibitor of DNA binding 2provided by HGNC Primary source HGNC:HGNC:5361 See related Ensembl:ENSG00000115738 MIM:600386; AllianceGenome:HGNC:5361 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 GIG8; ID2A; ID2H; bHLHb26 Summary The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in liver (RPKM 128.2), bone marrow (RPKM 111.2) and 24 other tissues See more Orthologs mouse all
ID2-AS1, Official Symbol ID2-AS1provided by HGNC Official Full Name ID2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51103 See related AllianceGenome:HGNC:51103 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 1.8), thyroid (RPKM 1.6) and 25 other tissues See more
ID2B, Official Symbol ID2Bprovided by HGNC Official Full Name inhibitor of DNA binding 2B (pseudogene)provided by HGNC Primary source HGNC:HGNC:30656 See related AllianceGenome:HGNC:30656 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ID3, Official Symbol ID3provided by HGNC Official Full Name inhibitor of DNA binding 3provided by HGNC Primary source HGNC:HGNC:5362 See related Ensembl:ENSG00000117318 MIM:600277; AllianceGenome:HGNC:5362 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 HEIR-1; bHLHb25 Summary The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011] Expression Broad expression in thyroid (RPKM 81.9), prostate (RPKM 51.6) and 21 other tissues See more Orthologs mouse all
ID4, Official Symbol ID4provided by HGNC Official Full Name inhibitor of DNA binding 4provided by HGNC Primary source HGNC:HGNC:5363 See related Ensembl:ENSG00000172201 MIM:600581; AllianceGenome:HGNC:5363 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 IDB4; bHLHb27 Summary This gene encodes a member of the inhibitor of DNA binding (ID) protein family. The encoded protein lacks DNA binding ability, and instead regulates gene expression through binding to and inhibiting basic helix-loop-helix transcription factors. This protein has been implicated in the regulation of diverse cellular processes that play a role in development and tumorigenesis. [provided by RefSeq, Aug 2017] Expression Biased expression in thyroid (RPKM 167.8), brain (RPKM 37.5) and 12 other tissues See more Orthologs mouse all
IDE, Official Symbol IDEprovided by HGNC Official Full Name insulin degrading enzymeprovided by HGNC Primary source HGNC:HGNC:5381 See related Ensembl:ENSG00000119912 MIM:146680; AllianceGenome:HGNC:5381 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 INSULYSIN Summary This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in skin (RPKM 17.4), testis (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
IDH1, Official Symbol IDH1provided by HGNC Official Full Name isocitrate dehydrogenase (NADP(+)) 1provided by HGNC Primary source HGNC:HGNC:5382 See related Ensembl:ENSG00000138413 MIM:147700; AllianceGenome:HGNC:5382 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 IDH; IDP; IDCD; IDPC; PICD; HEL-216; HEL-S-26 Summary Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in adrenal (RPKM 116.0), liver (RPKM 110.2) and 23 other tissues See more Orthologs mouse all
IDH1-AS1, Official Symbol IDH1-AS1provided by HGNC Official Full Name IDH1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40292 See related Ensembl:ENSG00000231908 AllianceGenome:HGNC:40292 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
IDH2, Official Symbol IDH2provided by HGNC Official Full Name isocitrate dehydrogenase (NADP(+)) 2provided by HGNC Primary source HGNC:HGNC:5383 See related Ensembl:ENSG00000182054 MIM:147650; AllianceGenome:HGNC:5383 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 IDH; IDP; IDHM; IDPM; ICD-M; IDH-2; D2HGA2; mNADP-IDH Summary Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in heart (RPKM 100.1), kidney (RPKM 92.8) and 24 other tissues See more Orthologs mouse all
IDH3A, Official Symbol IDH3Aprovided by HGNC Official Full Name isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alphaprovided by HGNC Primary source HGNC:HGNC:5384 See related Ensembl:ENSG00000166411 MIM:601149; AllianceGenome:HGNC:5384 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 RP90 Summary Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 59.2), adrenal (RPKM 37.1) and 25 other tissues See more Orthologs mouse all
IDH3B, Official Symbol IDH3Bprovided by HGNC Official Full Name isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit betaprovided by HGNC Primary source HGNC:HGNC:5385 See related Ensembl:ENSG00000101365 MIM:604526; AllianceGenome:HGNC:5385 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 RP46 Summary Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in heart (RPKM 34.2), kidney (RPKM 31.3) and 25 other tissues See more Orthologs mouse all
IDH3G, Official Symbol IDH3Gprovided by HGNC Official Full Name isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gammaprovided by HGNC Primary source HGNC:HGNC:5386 See related Ensembl:ENSG00000067829 MIM:300089; AllianceGenome:HGNC:5386 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 H-IDHG Summary Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 22.6), heart (RPKM 18.4) and 25 other tissues See more Orthologs mouse all
IDI1, Official Symbol IDI1provided by HGNC Official Full Name isopentenyl-diphosphate delta isomerase 1provided by HGNC Primary source HGNC:HGNC:5387 See related Ensembl:ENSG00000067064 MIM:604055; AllianceGenome:HGNC:5387 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 IPP1; IPPI1 Summary IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 23.9), brain (RPKM 23.0) and 25 other tissues See more Orthologs mouse all
IDI2, Official Symbol IDI2provided by HGNC Official Full Name isopentenyl-diphosphate delta isomerase 2provided by HGNC Primary source HGNC:HGNC:23487 See related Ensembl:ENSG00000148377 MIM:615389; AllianceGenome:HGNC:23487 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 IPPI2 Summary The protein encoded by this gene catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, which is a precursor for the synthesis of cholesterol and other isoprenoids. This gene, which is a product of an ancestral gene duplication event, encodes a protein that may be involved in the aggregation of alpha-synuclein in the cerebral cortex of patients with Lewy body disease. In addition, segmental copy number gains in this locus have been associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in adrenal (RPKM 2.6), thyroid (RPKM 1.6) and 25 other tissues See more Orthologs all
IDI2-AS1, Official Symbol IDI2-AS1provided by HGNC Official Full Name IDI2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:30885 See related Ensembl:ENSG00000232656 MIM:615391; AllianceGenome:HGNC:30885 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 HT009; IDI2-AS; C10orf110 Expression Ubiquitous expression in bone marrow (RPKM 15.7), liver (RPKM 9.8) and 24 other tissues See more