Entity Details

Primary name MYO7A
Entity type gene
Source Source Link

Details

PrimaryID4647
RefseqGeneNG_009086
SymbolMYO7A
Namemyosin VIIA
Chromosome11
Location11q13.5
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-21
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsMYO7A_HUMAN

GO terms

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GOName
GO:0000146 microfilament motor activity
GO:0001750 photoreceptor outer segment
GO:0001845 phagolysosome assembly
GO:0001917 photoreceptor inner segment
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0005902 microvillus
GO:0005938 cell cortex
GO:0006886 intracellular protein transport
GO:0007015 actin filament organization
GO:0007040 lysosome organization
GO:0007423 sensory organ development
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0015629 actin cytoskeleton
GO:0016324 apical plasma membrane
GO:0019904 protein domain specific binding
GO:0030048 actin filament-based movement
GO:0030050 vesicle transport along actin filament
GO:0030507 spectrin binding
GO:0031477 myosin VII complex
GO:0031982 vesicle
GO:0032391 photoreceptor connecting cilium
GO:0032420 stereocilium
GO:0034613 cellular protein localization
GO:0042462 eye photoreceptor cell development
GO:0042470 melanosome
GO:0042490 mechanoreceptor differentiation
GO:0042802 identical protein binding
GO:0043531 ADP binding
GO:0045202 synapse
GO:0047485 protein N-terminus binding
GO:0048563 post-embryonic animal organ morphogenesis
GO:0050953 sensory perception of light stimulus
GO:0050957 equilibrioception
GO:0051015 actin filament binding
GO:0051904 pigment granule transport
GO:0060088 auditory receptor cell stereocilium organization
GO:0120044 stereocilium base
GO:1990435 upper tip-link density

Diseases

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Disease IDSourceNameDescription
601317 OMIMDeafness, autosomal dominant, 11 (DFNA11)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression. The disease is caused by variants affecting the gene represented in this entry.
600060 OMIMDeafness, autosomal recessive, 2 (DFNB2)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.
276900 OMIMUsher syndrome 1B (USH1B)USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. The disease is caused by variants affecting the gene represented in this entry.