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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
  • Alliance
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:98051060-98119524 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 53.57 cM
  • Mapping Data
    40 experiments
Strain
Comparison
more
  • SNPs within 2kb
    932 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104510
protein coding gene Chr7:98051054-98119524 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032533
protein coding gene Chr7:100770699-100846904 (-)
A/J MGP_AJ_G0032507
protein coding gene Chr7:98285908-98354830 (-)
AKR/J MGP_AKRJ_G0032443
protein coding gene Chr7:100621425-100691215 (-)
BALB/cJ MGP_BALBcJ_G0032518
protein coding gene Chr7:97973024-98043589 (-)
C3H/HeJ MGP_C3HHeJ_G0032233
protein coding gene Chr7:100971762-101046585 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033016
protein coding gene Chr7:104685063-104758946 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030011
protein coding gene Chr7:100733371-100802193 (-)
CAST/EiJ MGP_CASTEiJ_G0031560
protein coding gene Chr7:92483117-92555478 (-)
CBA/J MGP_CBAJ_G0032200
protein coding gene Chr7:108222653-108306053 (-)
DBA/2J MGP_DBA2J_G0032352
protein coding gene Chr7:96617251-96686382 (-)
FVB/NJ MGP_FVBNJ_G0032308
protein coding gene Chr7:96419218-96492871 (-)
LP/J MGP_LPJ_G0032441
protein coding gene Chr7:102093331-102163305 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032341
protein coding gene Chr7:109779001-109852282 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033038
protein coding gene Chr7:99890905-99967735 (-)
PWK/PhJ MGP_PWKPhJ_G0031278
protein coding gene Chr7:89685931-89756573 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031121
protein coding gene Chr7:87157959-87229908 (-)
WSB/EiJ MGP_WSBEiJ_G0031677
protein coding gene Chr7:100531128-100601846 (-)



Homology
more
  • Human Ortholog
    MYO7A, myosin VIIA
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MYO7A, myosin VIIA
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
  • Links
    NCBI Gene ID: 4647
    neXtProt AC: NX_Q13402
    UniProt: Q13402

  • Chr Location
    11q13.5; chr11:77128192-77215241 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 219
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • 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
      
IDs
View 1 model
IDs
View 12 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    13 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    80 phenotypes from 20 alleles in 22 genetic backgrounds
    11 phenotypes from multigenic genotypes
    12 images
    84 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030761 Ensembl Gene Model | MGI Sequence Detail 68465 C57BL/6J ±  kb
    transcript ENSMUST00000107128 Ensembl | MGI Sequence Detail 7506 Not Applicable  
    polypeptide ENSMUSP00000102745 Ensembl | MGI Sequence Detail 2215 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 40
      Genomic 6
      cDNA 33
      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 305
      Developmental Gene Expression 148
      Diseases 11
      Gene Ontology 51
      Phenotypes 84
    • 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:265659 Nakano Y, et al., Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness. Cell. 2018 Jul 26;174(3):536-548.e21

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory