ENSG00000196586
Homo sapiens | |
Features
| Gene ID: | ENSG00000196586 | | | | | Biological name : | MYO6 | | | | | Synonyms : | MYO6 / myosin VI / Q9UM54 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | 1 | | Band: | q14.1 | | Gene start: | 75749192 | | Gene end: | 75919537 | | | | | Corresponding Affymetrix probe sets: | 203215_s_at (Human Genome U133 Plus 2.0 Array) 203216_s_at (Human Genome U133 Plus 2.0 Array) 210480_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000359002
Ensembl peptide - ENSP00000358998
Ensembl peptide - ENSP00000399406
Ensembl peptide - ENSP00000487348
Ensembl peptide - ENSP00000478013
Ensembl peptide - ENSP00000358992
Ensembl peptide - ENSP00000358994
NCBI entrez gene - 4646
See in Manteia.
OMIM - 600970
RefSeq - XM_017010899
RefSeq - NM_004999
RefSeq - XM_005248719
RefSeq - XM_005248720
RefSeq - XM_005248721
RefSeq - XM_005248722
RefSeq - XM_005248724
RefSeq - XM_005248726
RefSeq - NM_001300899
RefSeq Peptide - NP_004990
RefSeq Peptide - NP_001287828
swissprot - Q9UM54
swissprot - E7EW20
swissprot - Q5JVM0
swissprot - A0A0A0MRM8
swissprot - A0A0D9SGC1
Ensembl - ENSG00000196586
| | | | | Related genetic diseases (OMIM): | 606346 - Deafness, autosomal dominant 22, 606346 | | | 607821 - Deafness, autosomal recessive 37, 607821 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000408 | Hearing loss, sensorineural, progressive | |
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| | HP:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| | HP:0001751 | Vestibular dysfunction | |
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| | HP:0007642 | Congenital stationary night blindness | |
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| | HP:0008619 | Hearing loss, sensorineural, bilateral | |
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Interacting proteins (from Reactome)
| ENSG00000161203 | AP2M1 / Q96CW1 / adaptor related protein complex 2 mu 1 subunit | / reaction / complex | | ENSG00000153071 | DAB2 / P98082 / DAB2, clathrin adaptor protein | / reaction / complex |
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