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Myo7a Gene Detail
Summary
  • Symbol
    Myo7a
  • Name
    myosin VIIA
  • Synonyms
    Hdb, Myo7, nmf371, polka, USH1B
  • Feature Type
    protein coding gene
  • IDs
    MGI:104510
    NCBI Gene: 17921
  • Gene Overview
    MyGene.info: MYO7A
Location & Maps
more
  • Sequence Map
    Chr7:98051060-98119524 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      68465 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 53.57 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    39 experiments
Homology
more
  • Human Ortholog
    MYO7A, myosin VIIA
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MYO7A, myosin VIIA
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
  • Links
    NCBI Gene ID: 4647
    neXtProt AC: NX_Q13402

  • Chr Location
    11q13.5; chr11:77128214-77215241 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 219
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: MYO7A
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Myo7a mouse models; 3 with human MYO7A associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 2; DFNB2   OMIM: 600060 View 1 model
Usher Syndrome, Type I; USH1   OMIM: 276900 View 12 models
       Deafness, Autosomal Dominant 11; DFNA11   OMIM: 601317
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    13 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    115 phenotypes from 19 alleles in 23 genetic backgrounds
    11 phenotypes from multigenic genotypes
    12 images
    80 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    25
  • Chemically induced (ENU)
    14
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Spontaneous
    5
  • Targeted
    4
  • Genomic Mutations
    2 involving Myo7a
  • Incidental Mutations
A number of spontaneous and ENU-induced mutations cause head-shaking, circling and deafness, often associated with cochlear hair cell degeneration and stereocilia anomalies. Defects in retinal pigment epithelial cells, male infertility, and light-inducedphotoreceptor damage have also been observed.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017631 VEGA Gene Model | MGI Sequence Detail 68465 C57BL/6J ±  kb
transcript OTTMUST00000042817 VEGA | MGI Sequence Detail 7506 Not Applicable  
polypeptide OTTMUSP00000019224 VEGA | MGI Sequence Detail 2215 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    932 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 39
    Genomic 6
    cDNA 32
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-14391, MGD-MRK-14393, MGD-MRK-25940, MGD-MRK-25941, MGI:1891335, MGI:3587416, MGI:3708140
References
more
  • Summaries
    All 261
    Developmental Gene Expression 122
    Diseases 12
    Gene Ontology 49
    Phenotypes 80
  • Earliest
    J:95 Gates WH, Linkage of the characters albinism and shaker in the house mouse. Anat Rec. 1929;41:104 (S28 Abstr.)
  • Latest
    J:227261 Gnedeva K, et al., SoxC transcription factors are essential for the development of the inner ear. Proc Natl Acad Sci U S A. 2015 Nov 10;112(45):14066-71

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory