psui3905/ncbi_genes_summary huggingface dataset:
MYEF2, Official Symbol MYEF2provided by HGNC Official Full Name myelin expression factor 2provided by HGNC Primary source HGNC:HGNC:17940 See related Ensembl:ENSG00000104177 MIM:619395; AllianceGenome:HGNC:17940 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 MEF-2; MST156; myEF-2; MSTP156; HsT18564 Summary Enables RNA binding activity. Involved in myotube differentiation and neuron differentiation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 7.4), testis (RPKM 5.4) and 22 other tissues See more Orthologs mouse all
MYEOV, Official Symbol MYEOVprovided by HGNC Official Full Name myeloma overexpressedprovided by HGNC Primary source HGNC:HGNC:7563 See related Ensembl:ENSG00000172927 MIM:605625; AllianceGenome:HGNC:7563 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 OCIM Expression Biased expression in stomach (RPKM 11.5), esophagus (RPKM 10.9) and 5 other tissues See more Orthologs all
MYF5, Official Symbol MYF5provided by HGNC Official Full Name myogenic factor 5provided by HGNC Primary source HGNC:HGNC:7565 See related Ensembl:ENSG00000111049 MIM:159990; AllianceGenome:HGNC:7565 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 EORVA; bHLHc2 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to contribute to E-box binding activity. Predicted to be involved in several processes, including muscle cell fate commitment; positive regulation of cell differentiation; and skeletal muscle cell differentiation. Predicted to act upstream of or within several processes, including animal organ development; regulation of cell-matrix adhesion; and somitogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MYF6, Official Symbol MYF6provided by HGNC Official Full Name myogenic factor 6provided by HGNC Primary source HGNC:HGNC:7566 See related Ensembl:ENSG00000111046 MIM:159991; AllianceGenome:HGNC:7566 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 CNM3; MRF4; myf-6; bHLHc4 Summary The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010] Expression Biased expression in prostate (RPKM 5.4) and esophagus (RPKM 2.8) See more Orthologs mouse all
MYG1, Official Symbol MYG1provided by HGNC Official Full Name MYG1 exonucleaseprovided by HGNC Primary source HGNC:HGNC:17590 See related Ensembl:ENSG00000139637 MIM:611366; AllianceGenome:HGNC:17590 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 MYG; Gamm1; MST024; MSTP024; C12orf10 Summary Predicted to enable nuclease activity. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis. Predicted to act upstream of or within locomotory exploration behavior. Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 46.7), ovary (RPKM 22.5) and 25 other tissues See more Orthologs mouse all
MYG1P1, Official Symbol MYG1P1provided by HGNC Official Full Name MYG1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54725 See related AllianceGenome:HGNC:54725 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C12orf10P1
MYH1, Official Symbol MYH1provided by HGNC Official Full Name myosin heavy chain 1provided by HGNC Primary source HGNC:HGNC:7567 See related Ensembl:ENSG00000109061 MIM:160730; AllianceGenome:HGNC:7567 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 MYHa; HEL71; MYHSA1; MyHC-2x; MyHC-2X/D Summary Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 4.3), esophagus (RPKM 3.5) and 2 other tissues See more Orthologs mouse all
MYH10, Official Symbol MYH10provided by HGNC Official Full Name myosin heavy chain 10provided by HGNC Primary source HGNC:HGNC:7568 See related Ensembl:ENSG00000133026 MIM:160776; AllianceGenome:HGNC:7568 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 NMMHCB; NMMHC-IIB Summary This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Broad expression in lung (RPKM 33.9), placenta (RPKM 28.3) and 22 other tissues See more Orthologs mouse all
MYH11, Official Symbol MYH11provided by HGNC Official Full Name myosin heavy chain 11provided by HGNC Primary source HGNC:HGNC:7569 See related Ensembl:ENSG00000133392 MIM:160745; AllianceGenome:HGNC:7569 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 AAT4; FAA4; SMHC; SMMHC; VSCM2; SMMS-1 Summary The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022] Expression Biased expression in esophagus (RPKM 836.6), prostate (RPKM 661.4) and 12 other tissues See more Orthologs mouse all
MYH13, Official Symbol MYH13provided by HGNC Official Full Name myosin heavy chain 13provided by HGNC Primary source HGNC:HGNC:7571 See related Ensembl:ENSG00000006788 MIM:603487; AllianceGenome:HGNC:7571 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 MyHC-eo; MyHC-IIL Summary Predicted to enable microfilament motor activity. Predicted to be involved in muscle contraction. Predicted to act upstream of or within cellular response to starvation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MYH14, Official Symbol MYH14provided by HGNC Official Full Name myosin heavy chain 14provided by HGNC Primary source HGNC:HGNC:23212 See related Ensembl:ENSG00000105357 MIM:608568; AllianceGenome:HGNC:23212 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 DFNA4; MHC16; MYH17; PNMHH; DFNA4A; myosin; FP17425; NMHC II-C; NMHC-II-C Summary This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Broad expression in colon (RPKM 39.5), duodenum (RPKM 33.8) and 16 other tissues See more Orthologs mouse all
MYH15, Official Symbol MYH15provided by HGNC Official Full Name myosin heavy chain 15provided by HGNC Primary source HGNC:HGNC:31073 See related Ensembl:ENSG00000144821 MIM:609929; AllianceGenome:HGNC:31073 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 several functions, including ATP binding activity; actin filament binding activity; and calmodulin binding activity. Predicted to be involved in extraocular skeletal muscle development. Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MYH16, Official Symbol MYH16provided by HGNC Official Full Name myosin heavy chain 16 (pseudogene)provided by HGNC Primary source HGNC:HGNC:31038 See related Ensembl:ENSG00000002079 MIM:608580; AllianceGenome:HGNC:31038 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MYH5; MHC20; MYH16P Summary The MYH16 gene, encoding a sarcomeric myosin heavy chain expressed in nonhuman primate masticatory muscles, is inactivated in humans. Stedman et al. (2004) [PubMed 15042088] hypothesized that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man.[supplied by OMIM, Mar 2008] Expression Low expression observed in reference dataset See more
MYH2, Official Symbol MYH2provided by HGNC Official Full Name myosin heavy chain 2provided by HGNC Primary source HGNC:HGNC:7572 See related Ensembl:ENSG00000125414 MIM:160740; AllianceGenome:HGNC:7572 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 IBM3; CMYP6; MYH2A; MYPOP; MYHSA2; MYHas8; MyHC-2A; MyHC-IIa Summary Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009] Expression Biased expression in prostate (RPKM 33.0) and esophagus (RPKM 24.7) See more Orthologs mouse all
MYH3, Official Symbol MYH3provided by HGNC Official Full Name myosin heavy chain 3provided by HGNC Primary source HGNC:HGNC:7573 See related Ensembl:ENSG00000109063 MIM:160720; AllianceGenome:HGNC:7573 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 DA8; DA2A; DA2B; DA2B3; HEMHC; SMHCE; MYHSE1; CPSFS1A; CPSFS1B; CPSKF1A; CPSKF1B; MYHC-EMB Summary Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 18.9), esophagus (RPKM 4.8) and 5 other tissues See more Orthologs mouse all
MYH4, Official Symbol MYH4provided by HGNC Official Full Name myosin heavy chain 4provided by HGNC Primary source HGNC:HGNC:7574 See related Ensembl:ENSG00000264424 MIM:160742; AllianceGenome:HGNC:7574 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 MYH2B; MyHC-2B; MyHC-IIb Summary Enables double-stranded RNA binding activity. Involved in muscle contraction. Located in myofibril. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MYH6, Official Symbol MYH6provided by HGNC Official Full Name myosin heavy chain 6provided by HGNC Primary source HGNC:HGNC:7576 See related Ensembl:ENSG00000197616 MIM:160710; AllianceGenome:HGNC:7576 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 ASD3; MYHC; SSS3; CMH14; MYHCA; CMD1EE; alpha-MHC Summary Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017] Expression Restricted expression toward heart (RPKM 1273.8) See more Orthologs mouse all
MYH7, Official Symbol MYH7provided by HGNC Official Full Name myosin heavy chain 7provided by HGNC Primary source HGNC:HGNC:7577 See related Ensembl:ENSG00000092054 MIM:160760; AllianceGenome:HGNC:7577 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 CMH1; MPD1; SPMD; SPMM; CMD1S; MYHCB; CMYP7A; CMYP7B Summary Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing distal myopathy. [provided by RefSeq, May 2022] Expression Restricted expression toward heart (RPKM 1505.8) See more Orthologs mouse all
MYH7B, Official Symbol MYH7Bprovided by HGNC Official Full Name myosin heavy chain 7Bprovided by HGNC Primary source HGNC:HGNC:15906 See related Ensembl:ENSG00000078814 MIM:609928; AllianceGenome:HGNC:15906 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 MHC14; MYH14; lncMYH7b Summary The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] Expression Biased expression in heart (RPKM 13.9), testis (RPKM 3.7) and 2 other tissues See more Orthologs mouse all
MYH8, Official Symbol MYH8provided by HGNC Official Full Name myosin heavy chain 8provided by HGNC Primary source HGNC:HGNC:7578 See related Ensembl:ENSG00000133020 MIM:160741; AllianceGenome:HGNC:7578 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 DA7; MyHC-pn; gtMHC-F; MyHC-peri Summary Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009] Expression Biased expression in esophagus (RPKM 10.4), prostate (RPKM 1.7) and 1 other tissue See more Orthologs mouse all
MYH9, Official Symbol MYH9provided by HGNC Official Full Name myosin heavy chain 9provided by HGNC Primary source HGNC:HGNC:7579 See related Ensembl:ENSG00000100345 MIM:160775; AllianceGenome:HGNC:7579 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 MHA; FTNS; EPSTS; BDPLT6; DFNA17; MATINS; NMMHCA; NMHC-II-A; NMMHC-IIA Summary This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in spleen (RPKM 146.6), lung (RPKM 134.4) and 25 other tissues See more Orthologs mouse all
MYL1, Official Symbol MYL1provided by HGNC Official Full Name myosin light chain 1provided by HGNC Primary source HGNC:HGNC:7582 See related Ensembl:ENSG00000168530 MIM:160780; AllianceGenome:HGNC:7582 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 MLC1; MLC-1; MLC1F; MLC3F; CMYP14; MLC1/3; MYOFTA Summary Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward prostate (RPKM 145.3) See more Orthologs mouse all
MYL10, Official Symbol MYL10provided by HGNC Official Full Name myosin light chain 10provided by HGNC Primary source HGNC:HGNC:29825 See related Ensembl:ENSG00000106436 MIM:617177; AllianceGenome:HGNC:29825 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 PLRLC; MYLC2PL Summary Predicted to enable calcium ion binding activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MYL12-AS1, Official Symbol MYL12-AS1provided by HGNC Official Full Name MYL12A and MYL12B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55331 See related Ensembl:ENSG00000264235 AllianceGenome:HGNC:55331 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 heart (RPKM 149.6), lung (RPKM 55.7) and 23 other tissues See more
MYL12A, Official Symbol MYL12Aprovided by HGNC Official Full Name myosin light chain 12Aprovided by HGNC Primary source HGNC:HGNC:16701 See related Ensembl:ENSG00000101608 AllianceGenome:HGNC:16701 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 MLCB; MRCL3; MRLC3; MYL2B; MLC-2B; HEL-S-24 Summary This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014] Expression Broad expression in heart (RPKM 774.2), lung (RPKM 179.0) and 22 other tissues See more Orthologs all
MYL12AP1, Official Symbol MYL12AP1provided by HGNC Official Full Name MYL12A pseudogene 1provided by HGNC Primary source HGNC:HGNC:51648 See related AllianceGenome:HGNC:51648 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MYL12B, Official Symbol MYL12Bprovided by HGNC Official Full Name myosin light chain 12Bprovided by HGNC Primary source HGNC:HGNC:29827 See related Ensembl:ENSG00000118680 MIM:609211; AllianceGenome:HGNC:29827 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 MLC-B; MRLC2 Summary The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in colon (RPKM 243.9), lung (RPKM 208.5) and 25 other tissues See more Orthologs mouse all
MYL2, Official Symbol MYL2provided by HGNC Official Full Name myosin light chain 2provided by HGNC Primary source HGNC:HGNC:7583 See related Ensembl:ENSG00000111245 MIM:160781; AllianceGenome:HGNC:7583 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 MLC2; CMH10; MFM12; MLC-2; MLC-2v; MLC-2s/v Summary This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022] Expression Restricted expression toward heart (RPKM 6074.6) See more Orthologs mouse all
MYL3, Official Symbol MYL3provided by HGNC Official Full Name myosin light chain 3provided by HGNC Primary source HGNC:HGNC:7584 See related Ensembl:ENSG00000160808 MIM:160790; AllianceGenome:HGNC:7584 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 CMH8; VLC1; VLCl; MLC1V; MLC1SB; MLC-lV/sb Summary MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] Expression Restricted expression toward heart (RPKM 677.8) See more Orthologs mouse all
MYL4, Official Symbol MYL4provided by HGNC Official Full Name myosin light chain 4provided by HGNC Primary source HGNC:HGNC:7585 See related Ensembl:ENSG00000198336 MIM:160770; AllianceGenome:HGNC:7585 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 GT1; ALC1; AMLC; PRO1957 Summary Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward heart (RPKM 587.0) See more Orthologs mouse all
MYL5, Official Symbol MYL5provided by HGNC Official Full Name myosin light chain 5provided by HGNC Primary source HGNC:HGNC:7586 See related Ensembl:ENSG00000215375 MIM:160782; AllianceGenome:HGNC:7586 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 MYLC2 Summary This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 6.7), duodenum (RPKM 6.7) and 25 other tissues See more Orthologs all
MYL6, Official Symbol MYL6provided by HGNC Official Full Name myosin light chain 6provided by HGNC Primary source HGNC:HGNC:7587 See related Ensembl:ENSG00000092841 MIM:609931; AllianceGenome:HGNC:7587 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 LC17; ESMLC; LC17A; LC17B; MLC-3; MLC1SM; MLC3NM; MLC3SM; LC17-GI; LC17-NM Summary Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 771.0), endometrium (RPKM 608.0) and 25 other tissues See more Orthologs mouse all
MYL6B, Official Symbol MYL6Bprovided by HGNC Official Full Name myosin light chain 6Bprovided by HGNC Primary source HGNC:HGNC:29823 See related Ensembl:ENSG00000196465 MIM:609930; AllianceGenome:HGNC:29823 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 MLC1SA Summary Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] Expression Broad expression in testis (RPKM 60.9), prostate (RPKM 37.4) and 24 other tissues See more Orthologs mouse all
MYL6P4, Official Symbol MYL6P4provided by HGNC Official Full Name MYL6 pseudogene 4provided by HGNC Primary source HGNC:HGNC:37813 See related AllianceGenome:HGNC:37813 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MYL6P5, Official Symbol MYL6P5provided by HGNC Official Full Name MYL6 pseudogene 5provided by HGNC Primary source HGNC:HGNC:51646 See related AllianceGenome:HGNC:51646 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MYL7, Official Symbol MYL7provided by HGNC Official Full Name myosin light chain 7provided by HGNC Primary source HGNC:HGNC:21719 See related Ensembl:ENSG00000106631 MIM:613993; AllianceGenome:HGNC:21719 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 MYL2A; MYLC2A Summary Predicted to enable calcium ion binding activity. Located in A band. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward heart (RPKM 2260.5) See more Orthologs mouse all
MYL9, Official Symbol MYL9provided by HGNC Official Full Name myosin light chain 9provided by HGNC Primary source HGNC:HGNC:15754 See related Ensembl:ENSG00000101335 MIM:609905; AllianceGenome:HGNC:15754 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 LC20; MLC2; MRLC1; MYRL2; MLC-2C; MMIHS4 Summary Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in prostate (RPKM 922.2), urinary bladder (RPKM 715.8) and 17 other tissues See more Orthologs mouse all
MYLIP, Official Symbol MYLIPprovided by HGNC Official Full Name myosin regulatory light chain interacting proteinprovided by HGNC Primary source HGNC:HGNC:21155 See related Ensembl:ENSG00000007944 MIM:610082; AllianceGenome:HGNC:21155 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 MIR; IDOL Summary The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 42.5), bone marrow (RPKM 32.5) and 23 other tissues See more Orthologs mouse all
MYLK, Official Symbol MYLKprovided by HGNC Official Full Name myosin light chain kinaseprovided by HGNC Primary source HGNC:HGNC:7590 See related Ensembl:ENSG00000065534 MIM:600922; AllianceGenome:HGNC:7590 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 KRP; AAT7; MLCK; MLCK1; MMIHS; MYLK1; MMIHS1; MYLK-L; smMLCK; MLCK108; MLCK210; MSTP083 Summary This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008] Expression Broad expression in prostate (RPKM 187.5), endometrium (RPKM 154.5) and 18 other tissues See more Orthologs mouse all
MYLK-AS1, Official Symbol MYLK-AS1provided by HGNC Official Full Name MYLK antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42440 See related Ensembl:ENSG00000239523 AllianceGenome:HGNC:42440 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 prostate (RPKM 23.3), endometrium (RPKM 22.6) and 22 other tissues See more
MYLK-AS2, Official Symbol MYLK-AS2provided by HGNC Official Full Name MYLK antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40387 See related Ensembl:ENSG00000250174 AllianceGenome:HGNC:40387 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
MYLK2, Official Symbol MYLK2provided by HGNC Official Full Name myosin light chain kinase 2provided by HGNC Primary source HGNC:HGNC:16243 See related Ensembl:ENSG00000101306 MIM:606566; AllianceGenome:HGNC:16243 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 KMLC; MLCK; MLCK2; skMLCK Summary This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 3.0), prostate (RPKM 2.0) and 5 other tissues See more Orthologs mouse all
MYLK3, Official Symbol MYLK3provided by HGNC Official Full Name myosin light chain kinase 3provided by HGNC Primary source HGNC:HGNC:29826 See related Ensembl:ENSG00000140795 MIM:612147; AllianceGenome:HGNC:29826 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 MLCK; MLCK2; caMLCK Summary Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008] Expression Biased expression in heart (RPKM 28.3), testis (RPKM 4.8) and 2 other tissues See more Orthologs mouse all
MYLK4, Official Symbol MYLK4provided by HGNC Official Full Name myosin light chain kinase family member 4provided by HGNC Primary source HGNC:HGNC:27972 See related Ensembl:ENSG00000145949 AllianceGenome:HGNC:27972 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 SgK085 Summary Predicted to enable myosin light chain kinase activity. Predicted to be involved in protein phosphorylation. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 1.8), thyroid (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
MYLKP1, Official Symbol MYLKP1provided by HGNC Official Full Name myosin light chain kinase pseudogene 1provided by HGNC Primary source HGNC:HGNC:7591 See related Ensembl:ENSG00000228868 AllianceGenome:HGNC:7591 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MYLKP
MYMK, Official Symbol MYMKprovided by HGNC Official Full Name myomaker, myoblast fusion factorprovided by HGNC Primary source HGNC:HGNC:33778 See related Ensembl:ENSG00000187616 MIM:615345; AllianceGenome:HGNC:33778 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 TMEM8C; TMEM226; MYOMAKER Summary Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MYMX, Official Symbol MYMXprovided by HGNC Official Full Name myomixer, myoblast fusion factorprovided by HGNC Primary source HGNC:HGNC:52391 See related Ensembl:ENSG00000262179 MIM:619912; AllianceGenome:HGNC:52391 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 CFZS2; MINION; hMINION Summary Predicted to be involved in myoblast fusion involved in skeletal muscle regeneration; plasma membrane fusion; and skeletal muscle organ development. Predicted to be integral component of plasma membrane. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 1.3), stomach (RPKM 0.3) and 7 other tissues See more Orthologs mouse all
MYNN, Official Symbol MYNNprovided by HGNC Official Full Name myoneurinprovided by HGNC Primary source HGNC:HGNC:14955 See related Ensembl:ENSG00000085274 MIM:606042; AllianceGenome:HGNC:14955 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 OSZF; SBBIZ1; ZBTB31; ZNF902 Summary This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in bone marrow (RPKM 4.7), testis (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
MYO10, Official Symbol MYO10provided by HGNC Official Full Name myosin Xprovided by HGNC Primary source HGNC:HGNC:7593 See related Ensembl:ENSG00000145555 MIM:601481; AllianceGenome:HGNC:7593 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 MyoX 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-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011] Expression Broad expression in brain (RPKM 12.7), thyroid (RPKM 12.2) and 23 other tissues See more Orthologs mouse all
MYO15A, Official Symbol MYO15Aprovided by HGNC Official Full Name myosin XVAprovided by HGNC Primary source HGNC:HGNC:7594 See related Ensembl:ENSG00000091536 MIM:602666; AllianceGenome:HGNC:7594 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 DFNB3; MYO15 Summary This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 1.5), ovary (RPKM 0.3) and 6 other tissues See more Orthologs mouse all
MYO15B, Official Symbol MYO15Bprovided by HGNC Official Full Name myosin XVBprovided by HGNC Primary source HGNC:HGNC:14083 See related Ensembl:ENSG00000266714 AllianceGenome:HGNC:14083 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 MYO15BP Summary Predicted to enable ATP binding activity; actin binding activity; and cytoskeletal motor activity. Predicted to be located in brush border; cytoplasm; and cytoskeleton. Predicted to be part of myosin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in duodenum (RPKM 37.9), small intestine (RPKM 33.6) and 22 other tissues See more Orthologs mouse all
MYO16, Official Symbol MYO16provided by HGNC Official Full Name myosin XVIprovided by HGNC Primary source HGNC:HGNC:29822 See related Ensembl:ENSG00000041515 MIM:615479; AllianceGenome:HGNC:29822 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 MYR8; MYAP3; NYAP3; Myo16b; PPP1R107 Summary This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients. [provided by RefSeq, Mar 2017] Expression Biased expression in brain (RPKM 1.6), fat (RPKM 1.1) and 8 other tissues See more Orthologs mouse all
MYO16-AS1, Official Symbol MYO16-AS1provided by HGNC Official Full Name MYO16 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39913 See related Ensembl:ENSG00000236242 AllianceGenome:HGNC:39913 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