psui3905/ncbi_genes_summary huggingface dataset:
JAKMIP2-AS1, Official Symbol JAKMIP2-AS1provided by HGNC Official Full Name JAKMIP2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27203 See related Ensembl:ENSG00000280780 AllianceGenome:HGNC:27203 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in brain (RPKM 3.8), testis (RPKM 0.6) and 4 other tissues See more
JAKMIP3, Official Symbol JAKMIP3provided by HGNC Official Full Name Janus kinase and microtubule interacting protein 3provided by HGNC Primary source HGNC:HGNC:23523 See related Ensembl:ENSG00000188385 MIM:611198; AllianceGenome:HGNC:23523 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 NECC2; Jamip3; C10orf14; C10orf39; bA140A10.5 Summary Predicted to enable kinase binding activity and microtubule binding activity. Predicted to be located in Golgi apparatus. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 2.2), prostate (RPKM 1.0) and 11 other tissues See more Orthologs mouse all
JAM2, Official Symbol JAM2provided by HGNC Official Full Name junctional adhesion molecule 2provided by HGNC Primary source HGNC:HGNC:14686 See related Ensembl:ENSG00000154721 MIM:606870; AllianceGenome:HGNC:14686 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 JAMB; CD322; IBGC8; JAM-B; VEJAM; PRO245; VE-JAM; C21orf43 Summary This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012] Expression Broad expression in placenta (RPKM 25.9), brain (RPKM 13.2) and 20 other tissues See more Orthologs mouse all
JAM3, Official Symbol JAM3provided by HGNC Official Full Name junctional adhesion molecule 3provided by HGNC Primary source HGNC:HGNC:15532 See related Ensembl:ENSG00000166086 MIM:606871; AllianceGenome:HGNC:15532 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 JAMC; JAM-2; JAM-3; JAM-C Summary Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011] Expression Broad expression in placenta (RPKM 57.0), testis (RPKM 33.0) and 22 other tissues See more Orthologs mouse all
JAML, Official Symbol JAMLprovided by HGNC Official Full Name junction adhesion molecule likeprovided by HGNC Primary source HGNC:HGNC:19084 See related Ensembl:ENSG00000160593 MIM:609770; AllianceGenome:HGNC:19084 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 AMICA; Gm638; AMICA1; CREA7-1; CREA7-4 Summary Enables integrin binding activity and protein homodimerization activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules and myeloid leukocyte migration. Located in bicellular tight junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in appendix (RPKM 34.6), spleen (RPKM 24.5) and 14 other tissues See more Orthologs mouse all
JARID2, Official Symbol JARID2provided by HGNC Official Full Name jumonji and AT-rich interaction domain containing 2provided by HGNC Primary source HGNC:HGNC:6196 See related Ensembl:ENSG00000008083 MIM:601594; AllianceGenome:HGNC:6196 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 JMJ; DIDDF Summary This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012] Expression Broad expression in bone marrow (RPKM 19.2), testis (RPKM 12.2) and 23 other tissues See more Orthologs mouse all
JARID2-AS1, Official Symbol JARID2-AS1provided by HGNC Official Full Name JARID2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40314 See related Ensembl:ENSG00000235488 AllianceGenome:HGNC:40314 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 3.5) and bone marrow (RPKM 0.7) See more
JARID2-DT, Official Symbol JARID2-DTprovided by HGNC Official Full Name JARID2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55240 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
JAZF1, Official Symbol JAZF1provided by HGNC Official Full Name JAZF zinc finger 1provided by HGNC Primary source HGNC:HGNC:28917 See related Ensembl:ENSG00000153814 MIM:606246; AllianceGenome:HGNC:28917 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 TIP27; ZNF802 Summary This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008] Expression Broad expression in adrenal (RPKM 50.1), endometrium (RPKM 20.1) and 20 other tissues See more Orthologs mouse all
JAZF1-AS1, Official Symbol JAZF1-AS1provided by HGNC Official Full Name JAZF1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41218 See related AllianceGenome:HGNC:41218 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 endometrium (RPKM 1.0), brain (RPKM 0.9) and 21 other tissues See more
JCAD, Official Symbol JCADprovided by HGNC Official Full Name junctional cadherin 5 associatedprovided by HGNC Primary source HGNC:HGNC:29283 See related Ensembl:ENSG00000165757 MIM:614398; AllianceGenome:HGNC:29283 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 KIAA1462 Summary This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. [provided by RefSeq, Mar 2017] Expression Broad expression in fat (RPKM 28.1), lung (RPKM 20.0) and 17 other tissues See more Orthologs mouse all
JCADP1, Official Symbol JCADP1provided by HGNC Official Full Name JCAD pseudogene 1provided by HGNC Primary source HGNC:HGNC:54491 See related Ensembl:ENSG00000235012 AllianceGenome:HGNC:54491 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
JCHAIN, Official Symbol JCHAINprovided by HGNC Official Full Name joining chain of multimeric IgA and IgMprovided by HGNC Primary source HGNC:HGNC:5713 See related Ensembl:ENSG00000132465 MIM:147790; AllianceGenome:HGNC:5713 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 IGJ; JCH; IGCJ Summary Enables IgA binding activity and protein homodimerization activity. Contributes to several functions, including immunoglobulin receptor binding activity; peptidoglycan binding activity; and phosphatidylcholine binding activity. Involved in several processes, including defense response to other organism; glomerular filtration; and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex; pentameric IgM immunoglobulin complex; and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 2264.9), duodenum (RPKM 2014.1) and 10 other tissues See more Orthologs mouse all
JDP2, Official Symbol JDP2provided by HGNC Official Full Name Jun dimerization protein 2provided by HGNC Primary source HGNC:HGNC:17546 See related Ensembl:ENSG00000140044 MIM:608657; AllianceGenome:HGNC:17546 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 JUNDM2 Summary Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 5.0), bone marrow (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
JHY, Official Symbol JHYprovided by HGNC Official Full Name junctional cadherin complex regulatorprovided by HGNC Primary source HGNC:HGNC:26288 See related Ensembl:ENSG00000109944 MIM:617594; AllianceGenome:HGNC:26288 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 C11orf63 Summary Predicted to be involved in axoneme assembly and brain development. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; motile cilium assembly; and regulation of establishment of planar polarity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 7.4), kidney (RPKM 1.8) and 16 other tissues See more Orthologs mouse all
JKAMP, Official Symbol JKAMPprovided by HGNC Official Full Name JNK1/MAPK8 associated membrane proteinprovided by HGNC Primary source HGNC:HGNC:20184 See related Ensembl:ENSG00000050130 MIM:611176; AllianceGenome:HGNC:20184 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 JAMP; CDA06; HSPC213; HSPC327; C14orf100; C24orf100 Summary Enables ubiquitin protein ligase binding activity. Involved in ubiquitin-dependent ERAD pathway. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 16.2), adrenal (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
JKAMPP1, Official Symbol JKAMPP1provided by HGNC Official Full Name JNK1/MAPK8-associated membrane protein pseudogene 1provided by HGNC Primary source HGNC:HGNC:49759 See related Ensembl:ENSG00000231491 AllianceGenome:HGNC:49759 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
JMJD1C, Official Symbol JMJD1Cprovided by HGNC Official Full Name jumonji domain containing 1Cprovided by HGNC Primary source HGNC:HGNC:12313 See related Ensembl:ENSG00000171988 MIM:604503; AllianceGenome:HGNC:12313 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 KDM3C; TRIP8; TRIP-8 Summary The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in bone marrow (RPKM 14.8), gall bladder (RPKM 12.0) and 25 other tissues See more Orthologs mouse all
JMJD1C-AS1, Official Symbol JMJD1C-AS1provided by HGNC Official Full Name JMJD1C antisense RNA 1provided by HGNC Primary source HGNC:HGNC:28222 See related Ensembl:ENSG00000272767 AllianceGenome:HGNC:28222 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
JMJD4, Official Symbol JMJD4provided by HGNC Official Full Name jumonji domain containing 4provided by HGNC Primary source HGNC:HGNC:25724 See related Ensembl:ENSG00000081692 AllianceGenome:HGNC:25724 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 2-oxoglutarate-dependent dioxygenase activity. Involved in positive regulation of translational termination and protein hydroxylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.3), adrenal (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
JMJD6, Official Symbol JMJD6provided by HGNC Official Full Name jumonji domain containing 6, arginine demethylase and lysine hydroxylaseprovided by HGNC Primary source HGNC:HGNC:19355 See related Ensembl:ENSG00000070495 MIM:604914; AllianceGenome:HGNC:19355 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 PSR; PTDSR; PTDSR1 Summary This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 17.6), heart (RPKM 4.9) and 24 other tissues See more Orthologs mouse all
JMJD7, Official Symbol JMJD7provided by HGNC Official Full Name jumonji domain containing 7provided by HGNC Primary source HGNC:HGNC:34397 See related Ensembl:ENSG00000243789 AllianceGenome:HGNC:34397 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 20.1), esophagus (RPKM 12.8) and 25 other tissues See more Orthologs mouse all
JMJD7-PLA2G4B, Official Symbol JMJD7-PLA2G4Bprovided by HGNC Official Full Name JMJD7-PLA2G4B readthroughprovided by HGNC Primary source HGNC:HGNC:34449 See related Ensembl:ENSG00000168970 AllianceGenome:HGNC:34449 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 HsT16992; cPLA2-beta Summary This locus represents naturally-occurring readthrough transcription between the neighboring jumonji domain containing 7 (JMJD7) and phospholipase A2, group IVB (cytosolic) (PLA2G4B) genes. Readthrough transcripts encode fusion proteins that share amino acid sequence with each individual gene product, including a partial JmjC domain and downstream C2 and phospholipase A2 domains. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Oct 2013] Annotation information Note: This geneID was previously used to represent the PLA2G4B locus; however, it is now believed that this gene represents a set of read-through transcripts from the upstream JmjC-domain containing gene (geneID: 100137047) into the separate PLA2G4B gene. Consequently, PLA2G4B is now represented by geneID:100137049. [13 Feb 2013] Expression Ubiquitous expression in skin (RPKM 27.8), esophagus (RPKM 12.4) and 24 other tissues See more Orthologs all
JMJD8, Official Symbol JMJD8provided by HGNC Official Full Name jumonji domain containing 8provided by HGNC Primary source HGNC:HGNC:14148 See related Ensembl:ENSG00000161999 AllianceGenome:HGNC:14148 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 PP14397; C16orf20 Summary Involved in several processes, including positive regulation of I-kappaB kinase/NF-kappaB signaling; positive regulation of sprouting angiogenesis; and regulation of glycolytic process. Located in endoplasmic reticulum lumen and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 36.7), kidney (RPKM 34.2) and 25 other tissues See more Orthologs mouse all
JMY, Official Symbol JMYprovided by HGNC Official Full Name junction mediating and regulatory protein, p53 cofactorprovided by HGNC Primary source HGNC:HGNC:28916 See related Ensembl:ENSG00000152409 MIM:604279; AllianceGenome:HGNC:28916 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 WHAMM2; WHDC1L3 Summary Predicted to enable Arp2/3 complex binding activity and transcription coactivator activity. Predicted to be involved in several processes, including actin nucleation; intrinsic apoptotic signaling pathway by p53 class mediator; and regulation of transcription, DNA-templated. Located in cell leading edge. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Ubiquitous expression in endometrium (RPKM 8.1), thyroid (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
JOSD1, Official Symbol JOSD1provided by HGNC Official Full Name Josephin domain containing 1provided by HGNC Primary source HGNC:HGNC:28953 See related Ensembl:ENSG00000100221 MIM:615323; AllianceGenome:HGNC:28953 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 dJ508I15.2 Summary Predicted to enable thiol-dependent deubiquitinase. Predicted to be involved in protein deubiquitination. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 27.2), gall bladder (RPKM 19.0) and 25 other tissues See more Orthologs mouse all
JOSD2, Official Symbol JOSD2provided by HGNC Official Full Name Josephin domain containing 2provided by HGNC Primary source HGNC:HGNC:28853 See related Ensembl:ENSG00000161677 MIM:615324; AllianceGenome:HGNC:28853 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 SBBI54 Summary This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in fat (RPKM 7.4), stomach (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
JPH1, Official Symbol JPH1provided by HGNC Official Full Name junctophilin 1provided by HGNC Primary source HGNC:HGNC:14201 See related Ensembl:ENSG00000104369 MIM:605266; AllianceGenome:HGNC:14201 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 JP1; JP-1; CMT2K Summary Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 3.3), lung (RPKM 3.1) and 20 other tissues See more Orthologs mouse all
JPH2, Official Symbol JPH2provided by HGNC Official Full Name junctophilin 2provided by HGNC Primary source HGNC:HGNC:14202 See related Ensembl:ENSG00000149596 MIM:605267; AllianceGenome:HGNC:14202 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 JP2; JP-2; CMD2E; CMH17 Summary Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 14.9), prostate (RPKM 9.1) and 11 other tissues See more Orthologs mouse all
JPH3, Official Symbol JPH3provided by HGNC Official Full Name junctophilin 3provided by HGNC Primary source HGNC:HGNC:14203 See related Ensembl:ENSG00000154118 MIM:605268; AllianceGenome:HGNC:14203 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 JP3; HDL2; JP-3; TNRC22; CAGL237 Summary Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016] Expression Biased expression in brain (RPKM 10.9), adrenal (RPKM 0.6) and 1 other tissue See more Orthologs mouse all
JPH4, Official Symbol JPH4provided by HGNC Official Full Name junctophilin 4provided by HGNC Primary source HGNC:HGNC:20156 See related Ensembl:ENSG00000092051 MIM:619863; AllianceGenome:HGNC:20156 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 JP4; JPHL1 Summary This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Expression Biased expression in brain (RPKM 34.3), endometrium (RPKM 8.7) and 3 other tissues See more Orthologs mouse all
JPT1, Official Symbol JPT1provided by HGNC Official Full Name Jupiter microtubule associated homolog 1provided by HGNC Primary source HGNC:HGNC:14569 See related Ensembl:ENSG00000189159 MIM:619242; AllianceGenome:HGNC:14569 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 HN1; ARM2; HN1A Summary Located in nuclear membrane; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 36.4), colon (RPKM 19.4) and 21 other tissues See more Orthologs mouse all
JPT2, Official Symbol JPT2provided by HGNC Official Full Name Jupiter microtubule associated homolog 2provided by HGNC Primary source HGNC:HGNC:14137 See related Ensembl:ENSG00000206053 MIM:619241; AllianceGenome:HGNC:14137 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 L11; HN1L; C16orf34 Summary Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 16.7), placenta (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
JPX, Official Symbol JPXprovided by HGNC Official Full Name JPX transcript, XIST activatorprovided by HGNC Primary source HGNC:HGNC:37191 See related Ensembl:ENSG00000225470 MIM:300832; AllianceGenome:HGNC:37191 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 ENOX; DCBALD06; LINC00183; NCRNA00183 Summary JPX is a nonprotein-coding RNA transcribed from a gene within the X-inactivation center (XIC; MIM 314670) that appears to participate in X chromosome inactivation (Tian et al., 2010 [PubMed 21029862]).[supplied by OMIM, Feb 2011] Expression Ubiquitous expression in fat (RPKM 1.9), thyroid (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
JRK, Official Symbol JRKprovided by HGNC Official Full Name Jrk helix-turn-helix proteinprovided by HGNC Primary source HGNC:HGNC:6199 See related Ensembl:ENSG00000234616 MIM:603210; AllianceGenome:HGNC:6199 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 JH8; jerky Summary This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in testis (RPKM 2.4), ovary (RPKM 2.3) and 24 other tissues See more Orthologs mouse all
JRKL, Official Symbol JRKLprovided by HGNC Official Full Name JRK likeprovided by HGNC Primary source HGNC:HGNC:6200 See related Ensembl:ENSG00000183340 MIM:603211; AllianceGenome:HGNC:6200 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 HHMJG Summary The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in ovary (RPKM 7.1), thyroid (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
JRKL-AS1, Official Symbol JRKL-AS1provided by HGNC Official Full Name JRKL antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43670 See related AllianceGenome:HGNC:43670 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
JSRP1, Official Symbol JSRP1provided by HGNC Official Full Name junctional sarcoplasmic reticulum protein 1provided by HGNC Primary source HGNC:HGNC:24963 See related Ensembl:ENSG00000167476 MIM:608743; AllianceGenome:HGNC:24963 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 JP45; JP-45 Summary The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012] Expression Biased expression in prostate (RPKM 1.9), stomach (RPKM 0.9) and 12 other tissues See more Orthologs mouse all
JTB, Official Symbol JTBprovided by HGNC Official Full Name jumping translocation breakpointprovided by HGNC Primary source HGNC:HGNC:6201 See related Ensembl:ENSG00000143543 MIM:604671; AllianceGenome:HGNC:6201 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 PAR; hJT; HJTB; HSPC222 Summary Enables protein kinase binding activity. Involved in mitotic cytokinesis and positive regulation of protein kinase activity. Located in cytoplasm and midbody. Colocalizes with centrosome and spindle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 43.4), stomach (RPKM 38.7) and 25 other tissues See more Orthologs mouse all
JTBP1, Official Symbol JTBP1provided by HGNC Official Full Name jumping translocation breakpoint pseudogene 1provided by HGNC Primary source HGNC:HGNC:39180 See related Ensembl:ENSG00000233603 AllianceGenome:HGNC:39180 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
JUN, Official Symbol JUNprovided by HGNC Official Full Name Jun proto-oncogene, AP-1 transcription factor subunitprovided by HGNC Primary source HGNC:HGNC:6204 See related Ensembl:ENSG00000177606 MIM:165160; AllianceGenome:HGNC:6204 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 AP1; p39; AP-1; cJUN; c-Jun Summary This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. [provided by RefSeq, Jul 2008] Orthologs mouse all
JUNB, Official Symbol JUNBprovided by HGNC Official Full Name JunB proto-oncogene, AP-1 transcription factor subunitprovided by HGNC Primary source HGNC:HGNC:6205 See related Ensembl:ENSG00000171223 MIM:165161; AllianceGenome:HGNC:6205 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 AP-1 Summary Enables sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription factor AP-1 complex. Biomarker of Hodgkin's lymphoma and anaplastic large cell lymphoma. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
JUND, Official Symbol JUNDprovided by HGNC Official Full Name JunD proto-oncogene, AP-1 transcription factor subunitprovided by HGNC Primary source HGNC:HGNC:6206 See related Ensembl:ENSG00000130522 MIM:165162; AllianceGenome:HGNC:6206 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 AP-1 Summary The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. This protein has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternative translation initiation site usage results in the production of different isoforms (PMID:12105216). [provided by RefSeq, Nov 2013] Orthologs mouse all
JUP, Official Symbol JUPprovided by HGNC Official Full Name junction plakoglobinprovided by HGNC Primary source HGNC:HGNC:6207 See related Ensembl:ENSG00000173801 MIM:173325; AllianceGenome:HGNC:6207 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 PG; DP3; PDGB; PKGB; CTNNG; DPIII Summary This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008] Expression Broad expression in skin (RPKM 236.9), esophagus (RPKM 189.1) and 16 other tissues See more Orthologs mouse all
KAAG1, Official Symbol KAAG1provided by HGNC Official Full Name kidney associated DCDC2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:21031 See related Ensembl:ENSG00000146049 MIM:608211; AllianceGenome:HGNC:21031 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 RU2AS Annotation information Note: This gene was previously represented as protein-coding but is now represented as non-coding because the potential coding sequence does not meet NCBI quality criteria. Consequently, it is withdrawn from the Matched Annotation from NCBI and EMBL-EBI (MANE) dataset. [16 Feb 2022] Orthologs all
KALRN, Official Symbol KALRNprovided by HGNC Official Full Name kalirin RhoGEF kinaseprovided by HGNC Primary source HGNC:HGNC:4814 See related Ensembl:ENSG00000160145 MIM:604605; AllianceGenome:HGNC:4814 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 DUO; CHD5; DUET; TRAD; CHDS5; HAPIP; KALNC2; ARHGEF24 Summary Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016] Expression Broad expression in brain (RPKM 3.5), small intestine (RPKM 1.5) and 20 other tissues See more Orthologs mouse all
KANK1, Official Symbol KANK1provided by HGNC Official Full Name KN motif and ankyrin repeat domains 1provided by HGNC Primary source HGNC:HGNC:19309 See related Ensembl:ENSG00000107104 MIM:607704; AllianceGenome:HGNC:19309 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 KANK; CPSQ2; ANKRD15 Summary The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in esophagus (RPKM 11.7), heart (RPKM 11.6) and 24 other tissues See more Orthologs mouse all
KANK2, Official Symbol KANK2provided by HGNC Official Full Name KN motif and ankyrin repeat domains 2provided by HGNC Primary source HGNC:HGNC:29300 See related Ensembl:ENSG00000197256 MIM:614610; AllianceGenome:HGNC:29300 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 SIP; MXRA3; PPKWH; NPHS16; ANKRD25 Summary This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in endometrium (RPKM 77.8), ovary (RPKM 51.9) and 21 other tissues See more Orthologs mouse all
KANK3, Official Symbol KANK3provided by HGNC Official Full Name KN motif and ankyrin repeat domains 3provided by HGNC Primary source HGNC:HGNC:24796 See related Ensembl:ENSG00000186994 MIM:614611; AllianceGenome:HGNC:24796 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 ANKRD47 Summary Predicted to be involved in negative regulation of actin filament polymerization. Predicted to be active in cytoplasm and cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 11.4), spleen (RPKM 8.7) and 21 other tissues See more Orthologs mouse all
KANK4, Official Symbol KANK4provided by HGNC Official Full Name KN motif and ankyrin repeat domains 4provided by HGNC Primary source HGNC:HGNC:27263 See related Ensembl:ENSG00000132854 MIM:614612; AllianceGenome:HGNC:27263 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 ANKRD38; dJ1078M7.1 Summary Predicted to be involved in negative regulation of actin filament polymerization. Located in cytosol and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 7.4), placenta (RPKM 5.9) and 10 other tissues See more Orthologs mouse all
KANSL1, Official Symbol KANSL1provided by HGNC Official Full Name KAT8 regulatory NSL complex subunit 1provided by HGNC Primary source HGNC:HGNC:24565 See related Ensembl:ENSG00000120071 MIM:612452; AllianceGenome:HGNC:24565 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 KDVS; NSL1; MSL1v1; CENP-36; hMSL1v1; KIAA1267; DEL17Q21.31; C17DELq21.31 Summary This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Ubiquitous expression in testis (RPKM 12.3), ovary (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
KANSL1-AS1, Official Symbol KANSL1-AS1provided by HGNC Official Full Name KANSL1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43740 See related Ensembl:ENSG00000214401 AllianceGenome:HGNC:43740 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 fat (RPKM 4.5), spleen (RPKM 3.4) and 24 other tissues See more
KANSL1L, Official Symbol KANSL1Lprovided by HGNC Official Full Name KAT8 regulatory NSL complex subunit 1 likeprovided by HGNC Primary source HGNC:HGNC:26310 See related Ensembl:ENSG00000144445 MIM:613833; AllianceGenome:HGNC:26310 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 MSL1v2; C2orf67 Summary Predicted to enable histone acetyltransferase binding activity. Predicted to be part of NSL complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 5.3), ovary (RPKM 4.5) and 25 other tissues See more Orthologs mouse all