psui3905/ncbi_genes_summary huggingface dataset:
MYO18A, Official Symbol MYO18Aprovided by HGNC Official Full Name myosin XVIIIAprovided by HGNC Primary source HGNC:HGNC:31104 See related Ensembl:ENSG00000196535 MIM:609517; MIM:610067; AllianceGenome:HGNC:31104 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 MAJN; TIAF1; MYSPDZ; SPR210; SP-R210 Summary The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016] Annotation information Note: This gene is now merged into MYO18A (GeneID:399687) due to overlap of a significant portion of the transcript with 3' terminal exon of MYO18A. [10 Jan 2022] Expression Ubiquitous expression in skin (RPKM 21.0), bone marrow (RPKM 16.2) and 25 other tissues See more Orthologs mouse all
MYO18B, Official Symbol MYO18Bprovided by HGNC Official Full Name myosin XVIIIBprovided by HGNC Primary source HGNC:HGNC:18150 See related Ensembl:ENSG00000133454 MIM:607295; AllianceGenome:HGNC:18150 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 KFS4 Summary The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 11.4) and testis (RPKM 1.5) See more Orthologs mouse all
MYO19, Official Symbol MYO19provided by HGNC Official Full Name myosin XIXprovided by HGNC Primary source HGNC:HGNC:26234 See related Ensembl:ENSG00000278259 MIM:617379; AllianceGenome:HGNC:26234 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 MYOHD1 Summary Enables actin binding activity. Involved in regulation of cytokinesis and regulation of mitochondrial fission. Acts upstream of or within mitochondrion migration along actin filament. Located in cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 10.8), esophagus (RPKM 7.0) and 25 other tissues See more Orthologs mouse all
MYO1A, Official Symbol MYO1Aprovided by HGNC Official Full Name myosin IAprovided by HGNC Primary source HGNC:HGNC:7595 See related Ensembl:ENSG00000166866 MIM:601478; AllianceGenome:HGNC:7595 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 BBMI; MIHC; MYHL; DFNA48 Summary This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011] Expression Biased expression in duodenum (RPKM 156.2), small intestine (RPKM 147.7) and 2 other tissues See more Orthologs mouse all
MYO1B, Official Symbol MYO1Bprovided by HGNC Official Full Name myosin IBprovided by HGNC Primary source HGNC:HGNC:7596 See related Ensembl:ENSG00000128641 MIM:606537; AllianceGenome:HGNC:7596 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 MMIa; myr1; MYH-1c; MMI-alpha Summary Enables ATP binding activity; actin filament binding activity; and microfilament motor activity. Involved in actin filament organization and post-Golgi vesicle-mediated transport. Located in several cellular components, including actin filament; endosome; and perinuclear region of cytoplasm. Colocalizes with trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in liver (RPKM 53.1), lung (RPKM 45.2) and 23 other tissues See more Orthologs mouse all
MYO1C, Official Symbol MYO1Cprovided by HGNC Official Full Name myosin ICprovided by HGNC Primary source HGNC:HGNC:7597 See related Ensembl:ENSG00000197879 MIM:606538; AllianceGenome:HGNC:7597 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 NMI; MMIb; myr2; MyoIC; MMI-beta Summary This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008] Annotation information Note: MYO1C (Gene ID: 4641) and MYO1E (Gene ID: 4643) share the MYO1C symbol/alias in common. MYO1C is a widely used alternative name for myosin IE (MYO1E), which can be confused with the official symbol for myosin IC (MYO1C). [06 Feb 2019] Expression Ubiquitous expression in fat (RPKM 109.9), lung (RPKM 53.1) and 23 other tissues See more Orthologs mouse all
MYO1D, Official Symbol MYO1Dprovided by HGNC Official Full Name myosin IDprovided by HGNC Primary source HGNC:HGNC:7598 See related Ensembl:ENSG00000176658 MIM:606539; AllianceGenome:HGNC:7598 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 myr4; PPP1R108 Summary Enables protein domain specific binding activity. Predicted to be involved in actin filament organization; early endosome to recycling endosome transport; and vesicle transport along actin filament. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 49.5), small intestine (RPKM 32.7) and 22 other tissues See more Orthologs mouse all
MYO1E, Official Symbol MYO1Eprovided by HGNC Official Full Name myosin IEprovided by HGNC Primary source HGNC:HGNC:7599 See related Ensembl:ENSG00000157483 MIM:601479; AllianceGenome:HGNC:7599 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 FSGS6; MYO1C; HuncM-IC Summary This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012] Annotation information Note: MYO1C (Gene ID: 4641) and MYO1E (Gene ID: 4643) share the MYO1C symbol/alias in common. MYO1C is a widely used alternative name for myosin IE (MYO1E), which can be confused with the official symbol for myosin IC (MYO1C). [09 Jul 2018] Expression Ubiquitous expression in colon (RPKM 17.7), gall bladder (RPKM 16.8) and 24 other tissues See more Orthologs mouse all
MYO1F, Official Symbol MYO1Fprovided by HGNC Official Full Name myosin IFprovided by HGNC Primary source HGNC:HGNC:7600 See related Ensembl:ENSG00000142347 MIM:601480; AllianceGenome:HGNC:7600 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Myosins are molecular motors that use the energy from ATP hydrolysis to generate force on actin filaments. The protein encoded by this gene is an unconventional myosin that may be involved in the intracellular movement of membrane-enclosed compartments. There is evidence to suggest that mutations in this gene can result in hearing loss. [provided by RefSeq, Jan 2017] Expression Biased expression in bone marrow (RPKM 41.2), spleen (RPKM 33.9) and 13 other tissues See more Orthologs mouse all
MYO1G, Official Symbol MYO1Gprovided by HGNC Official Full Name myosin IGprovided by HGNC Primary source HGNC:HGNC:13880 See related Ensembl:ENSG00000136286 MIM:600642; AllianceGenome:HGNC:13880 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 HA2; MHAG; HLA-HA2 Summary MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010] Expression Biased expression in bone marrow (RPKM 19.0), spleen (RPKM 14.5) and 9 other tissues See more Orthologs mouse all
MYO1H, Official Symbol MYO1Hprovided by HGNC Official Full Name myosin IHprovided by HGNC Primary source HGNC:HGNC:13879 See related Ensembl:ENSG00000174527 MIM:614636; AllianceGenome:HGNC:13879 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 CCHS2 Summary Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization and vesicle transport along actin filament. Predicted to be part of myosin complex. Predicted to be active in several cellular components, including actin cytoskeleton; microvillus; and vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MYO3A, Official Symbol MYO3Aprovided by HGNC Official Full Name myosin IIIAprovided by HGNC Primary source HGNC:HGNC:7601 See related Ensembl:ENSG00000095777 MIM:606808; AllianceGenome:HGNC:7601 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 DFNB30 Summary The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 1.4), skin (RPKM 0.2) and 4 other tissues See more Orthologs mouse all
MYO3B, Official Symbol MYO3Bprovided by HGNC Official Full Name myosin IIIBprovided by HGNC Primary source HGNC:HGNC:15576 See related Ensembl:ENSG00000071909 MIM:610040; AllianceGenome:HGNC:15576 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] Expression Biased expression in kidney (RPKM 2.4), urinary bladder (RPKM 2.3) and 4 other tissues See more Orthologs mouse all
MYO3B-AS1, Official Symbol MYO3B-AS1provided by HGNC Official Full Name MYO3B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40713 See related Ensembl:ENSG00000231898 AllianceGenome:HGNC:40713 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 10.3) See more
MYO5A, Official Symbol MYO5Aprovided by HGNC Official Full Name myosin VAprovided by HGNC Primary source HGNC:HGNC:7602 See related Ensembl:ENSG00000197535 MIM:160777; AllianceGenome:HGNC:7602 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 GS1; MYO5; MYH12; MYR12 Summary This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008] Expression Broad expression in brain (RPKM 28.8), skin (RPKM 5.7) and 20 other tissues See more Orthologs mouse all
MYO5B, Official Symbol MYO5Bprovided by HGNC Official Full Name myosin VBprovided by HGNC Primary source HGNC:HGNC:7603 See related Ensembl:ENSG00000167306 MIM:606540; AllianceGenome:HGNC:7603 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 DIAR2; MVID1; PFIC10 Summary The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009] Expression Broad expression in small intestine (RPKM 15.1), duodenum (RPKM 14.8) and 18 other tissues See more Orthologs mouse all
MYO5BP1, Official Symbol MYO5BP1provided by HGNC Official Full Name myosin VB pseudogene 1provided by HGNC Primary source HGNC:HGNC:38495 See related AllianceGenome:HGNC:38495 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MYO5BP2, Official Symbol MYO5BP2provided by HGNC Official Full Name myosin VB pseudogene 2provided by HGNC Primary source HGNC:HGNC:38496 See related Ensembl:ENSG00000238245 AllianceGenome:HGNC:38496 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MYO5BP3, Official Symbol MYO5BP3provided by HGNC Official Full Name myosin VB pseudogene 3provided by HGNC Primary source HGNC:HGNC:38497 See related Ensembl:ENSG00000228656 AllianceGenome:HGNC:38497 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MYO5C, Official Symbol MYO5Cprovided by HGNC Official Full Name myosin VCprovided by HGNC Primary source HGNC:HGNC:7604 See related Ensembl:ENSG00000128833 MIM:610022; AllianceGenome:HGNC:7604 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization and vesicle transport along actin filament. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 12.9), stomach (RPKM 10.0) and 23 other tissues See more Orthologs mouse all
MYO6, Official Symbol MYO6provided by HGNC Official Full Name myosin VIprovided by HGNC Primary source HGNC:HGNC:7605 See related Ensembl:ENSG00000196586 MIM:600970; AllianceGenome:HGNC:7605 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 DFNA22; DFNB37 Summary This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] Expression Broad expression in kidney (RPKM 22.2), duodenum (RPKM 13.0) and 23 other tissues See more Orthologs mouse all
MYO7A, Official Symbol MYO7Aprovided by HGNC Official Full Name myosin VIIAprovided by HGNC Primary source HGNC:HGNC:7606 See related Ensembl:ENSG00000137474 MIM:276903; AllianceGenome:HGNC:7606 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 DFNB2; MYU7A; NSRD2; USH1B; DFNA11; MYOVIIA Summary This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Broad expression in adrenal (RPKM 8.3), testis (RPKM 6.5) and 17 other tissues See more Orthologs mouse all
MYO7B, Official Symbol MYO7Bprovided by HGNC Official Full Name myosin VIIBprovided by HGNC Primary source HGNC:HGNC:7607 See related Ensembl:ENSG00000169994 MIM:606541; AllianceGenome:HGNC:7607 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action. [provided by RefSeq, Jan 2017] Expression Biased expression in duodenum (RPKM 42.9), small intestine (RPKM 30.6) and 5 other tissues See more Orthologs mouse all
MYO9A, Official Symbol MYO9Aprovided by HGNC Official Full Name myosin IXAprovided by HGNC Primary source HGNC:HGNC:7608 See related Ensembl:ENSG00000066933 MIM:604875; AllianceGenome:HGNC:7608 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 CMS24 Summary This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011] Expression Broad expression in testis (RPKM 12.9), thyroid (RPKM 5.9) and 24 other tissues See more Orthologs mouse all
MYO9B, Official Symbol MYO9Bprovided by HGNC Official Full Name myosin IXBprovided by HGNC Primary source HGNC:HGNC:7609 See related Ensembl:ENSG00000099331 MIM:602129; AllianceGenome:HGNC:7609 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 MYR5; CELIAC4 Summary This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Broad expression in spleen (RPKM 30.6), bone marrow (RPKM 21.4) and 24 other tissues See more Orthologs mouse all
MYOC, Official Symbol MYOCprovided by HGNC Official Full Name myocilinprovided by HGNC Primary source HGNC:HGNC:7610 See related Ensembl:ENSG00000034971 MIM:601652; AllianceGenome:HGNC:7610 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 GPOA; JOAG; TIGR; GLC1A; JOAG1 Summary MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008] Expression Biased expression in fat (RPKM 41.3), stomach (RPKM 12.2) and 8 other tissues See more Orthologs mouse all
MYOCD, Official Symbol MYOCDprovided by HGNC Official Full Name myocardinprovided by HGNC Primary source HGNC:HGNC:16067 See related Ensembl:ENSG00000141052 MIM:606127; AllianceGenome:HGNC:16067 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 MGBL; MYCD Summary This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Expression Broad expression in esophagus (RPKM 7.3), endometrium (RPKM 5.9) and 15 other tissues See more Orthologs mouse all
MYOCD-AS1, Official Symbol MYOCD-AS1provided by HGNC Official Full Name MYOCD antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40750 See related Ensembl:ENSG00000227274 AllianceGenome:HGNC:40750 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
MYOCOS, Official Symbol MYOCOSprovided by HGNC Official Full Name myocilin opposite strandprovided by HGNC Primary source HGNC:HGNC:53429 See related Ensembl:ENSG00000283683 AllianceGenome:HGNC:53429 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 Orthologs mouse all
MYOD1, Official Symbol MYOD1provided by HGNC Official Full Name myogenic differentiation 1provided by HGNC Primary source HGNC:HGNC:7611 See related Ensembl:ENSG00000129152 MIM:159970; AllianceGenome:HGNC:7611 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 PUM; MYF3; MYOD; CMYP17; bHLHc1; MYODRIF Summary This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
MYOF, Official Symbol MYOFprovided by HGNC Official Full Name myoferlinprovided by HGNC Primary source HGNC:HGNC:3656 See related Ensembl:ENSG00000138119 MIM:604603; AllianceGenome:HGNC:3656 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 HAE7; FER1L3 Summary Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008] Expression Broad expression in urinary bladder (RPKM 30.9), placenta (RPKM 28.9) and 22 other tissues See more Orthologs mouse all
MYOG, Official Symbol MYOGprovided by HGNC Official Full Name myogeninprovided by HGNC Primary source HGNC:HGNC:7612 See related Ensembl:ENSG00000122180 MIM:159980; AllianceGenome:HGNC:7612 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 MYF4; myf-4; bHLHc3 Summary Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 2.6) and esophagus (RPKM 0.9) See more Orthologs mouse all
MYOM1, Official Symbol MYOM1provided by HGNC Official Full Name myomesin 1provided by HGNC Primary source HGNC:HGNC:7613 See related Ensembl:ENSG00000101605 MIM:603508; AllianceGenome:HGNC:7613 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 SKELEMIN Summary The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 154.6), prostate (RPKM 11.8) and 2 other tissues See more Orthologs mouse all
MYOM2, Official Symbol MYOM2provided by HGNC Official Full Name myomesin 2provided by HGNC Primary source HGNC:HGNC:7614 See related Ensembl:ENSG00000036448 MIM:603509; AllianceGenome:HGNC:7614 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 TTNAP Summary The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 193.6) and prostate (RPKM 8.7) See more Orthologs mouse all
MYOM3, Official Symbol MYOM3provided by HGNC Official Full Name myomesin 3provided by HGNC Primary source HGNC:HGNC:26679 See related Ensembl:ENSG00000142661 MIM:616832; AllianceGenome:HGNC:26679 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable actin filament binding activity and protein homodimerization activity. Predicted to be involved in muscle contraction. Predicted to be active in M band. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 41.6), kidney (RPKM 17.2) and 4 other tissues See more Orthologs mouse all
MYORG, Official Symbol MYORGprovided by HGNC Official Full Name myogenesis regulating glycosidase (putative)provided by HGNC Primary source HGNC:HGNC:19918 See related Ensembl:ENSG00000164976 MIM:618255; AllianceGenome:HGNC:19918 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 IBGC7; NET37; KIAA1161 Summary Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds. Involved in skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum membrane and nuclear membrane. Implicated in basal ganglia calcification. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in duodenum (RPKM 7.6), small intestine (RPKM 7.3) and 18 other tissues See more Orthologs mouse all
MYOSLID, Official Symbol MYOSLIDprovided by HGNC Official Full Name myocardin-induced smooth muscle lncRNA, inducer of differentiationprovided by HGNC Primary source HGNC:HGNC:51821 See related Ensembl:ENSG00000229647 MIM:618976; AllianceGenome:HGNC:51821 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 1.7), spleen (RPKM 0.3) and 15 other tissues See more
MYOT, Official Symbol MYOTprovided by HGNC Official Full Name myotilinprovided by HGNC Primary source HGNC:HGNC:12399 See related Ensembl:ENSG00000120729 MIM:604103; AllianceGenome:HGNC:12399 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 MFM3; TTID; TTOD; LGMD1; LGMD1A Summary This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008] Expression Biased expression in prostate (RPKM 16.8), esophagus (RPKM 14.9) and 4 other tissues See more Orthologs mouse all
MYOZ1, Official Symbol MYOZ1provided by HGNC Official Full Name myozenin 1provided by HGNC Primary source HGNC:HGNC:13752 See related Ensembl:ENSG00000177791 MIM:605603; AllianceGenome:HGNC:13752 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 CS-2; FATZ; MYOZ Summary The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012] Expression Biased expression in esophagus (RPKM 24.9), prostate (RPKM 22.9) and 4 other tissues See more Orthologs mouse all
MYOZ2, Official Symbol MYOZ2provided by HGNC Official Full Name myozenin 2provided by HGNC Primary source HGNC:HGNC:1330 See related Ensembl:ENSG00000172399 MIM:605602; AllianceGenome:HGNC:1330 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 CS-1; CMH16; C4orf5; FATZ-2 Summary The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011] Expression Restricted expression toward heart (RPKM 236.3) See more Orthologs mouse all
MYOZ3, Official Symbol MYOZ3provided by HGNC Official Full Name myozenin 3provided by HGNC Primary source HGNC:HGNC:18565 See related Ensembl:ENSG00000164591 MIM:610735; AllianceGenome:HGNC:18565 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 CS3; CS-3; FRP3; FATZ-3 Summary The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012] Expression Biased expression in prostate (RPKM 4.0), testis (RPKM 2.8) and 10 other tissues See more Orthologs mouse all
MYPN, Official Symbol MYPNprovided by HGNC Official Full Name myopalladinprovided by HGNC Primary source HGNC:HGNC:23246 See related Ensembl:ENSG00000138347 MIM:608517; AllianceGenome:HGNC:23246 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 MYOP; RCM4; CMH22; NEM11; CMD1DD; CMYP24 Summary Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] Expression Biased expression in heart (RPKM 21.7) and prostate (RPKM 1.5) See more Orthologs mouse all
MYPOP, Official Symbol MYPOPprovided by HGNC Official Full Name Myb related transcription factor, partner of profilinprovided by HGNC Primary source HGNC:HGNC:20178 See related Ensembl:ENSG00000176182 MIM:617861; AllianceGenome:HGNC:20178 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 P42pop Summary Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 2.5), spleen (RPKM 2.4) and 25 other tissues See more Orthologs mouse all
MYRF, Official Symbol MYRFprovided by HGNC Official Full Name myelin regulatory factorprovided by HGNC Primary source HGNC:HGNC:1181 See related Ensembl:ENSG00000124920 MIM:608329; AllianceGenome:HGNC:1181 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 MRF; CUGS; MMERV; Ndt80; 11orf9; pqn-47; C11orf9 Summary This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Expression Biased expression in stomach (RPKM 32.1), brain (RPKM 26.8) and 11 other tissues See more Orthologs mouse all
MYRF-AS1, Official Symbol MYRF-AS1provided by HGNC Official Full Name MYRF antisense RNA 1provided by HGNC Primary source HGNC:HGNC:24506 See related Ensembl:ENSG00000124915 AllianceGenome:HGNC:24506 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DKFZP434K028 Expression Restricted expression toward testis (RPKM 3.0) See more
MYRFL, Official Symbol MYRFLprovided by HGNC Official Full Name myelin regulatory factor likeprovided by HGNC Primary source HGNC:HGNC:26316 See related Ensembl:ENSG00000166268 AllianceGenome:HGNC:26316 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 bcm1377; C12orf15; C12orf28 Summary Predicted to enable DNA-binding transcription factor activity and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription, DNA-templated and protein autoprocessing. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 4.6), small intestine (RPKM 4.6) and 1 other tissue See more Orthologs mouse all
MYRIP, Official Symbol MYRIPprovided by HGNC Official Full Name myosin VIIA and Rab interacting proteinprovided by HGNC Primary source HGNC:HGNC:19156 See related Ensembl:ENSG00000170011 MIM:611790; AllianceGenome:HGNC:19156 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 SLAC2C; SLAC2-C Summary Predicted to enable actin binding activity and myosin binding activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be located in actin cytoskeleton; dense core granule; and perinuclear region of cytoplasm. Predicted to be part of exocyst. Predicted to be active in cortical actin cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 7.4), spleen (RPKM 4.2) and 23 other tissues See more Orthologs mouse all
MYSM1, Official Symbol MYSM1provided by HGNC Official Full Name Myb like, SWIRM and MPN domains 1provided by HGNC Primary source HGNC:HGNC:29401 See related Ensembl:ENSG00000162601 MIM:612176; AllianceGenome:HGNC:29401 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 2ADUB; BMFS4; 2A-DUB Summary Enables histone binding activity; peptidase activity; and transcription coactivator activity. Involved in several processes, including chromatin remodeling; monoubiquitinated histone H2A deubiquitination; and positive regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Part of protein-containing complex. Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 8.9), lymph node (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
MYT1, Official Symbol MYT1provided by HGNC Official Full Name myelin transcription factor 1provided by HGNC Primary source HGNC:HGNC:7622 See related Ensembl:ENSG00000196132 MIM:600379; AllianceGenome:HGNC:7622 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 MTF1; MYTI; NZF2; PLPB1; ZC2H2C1; ZC2HC4A; C20orf36 Summary The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 4.2), adrenal (RPKM 2.1) and 3 other tissues See more Orthologs mouse all