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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
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:97700267-97768731 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 53.57 cM
  • Mapping Data
    40 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2255 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104510
 protein coding gene Chr7:97700261-97768731 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MYO7A, myosin VIIA
  • Synonyms
    DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
  • Links
    NCBI Gene ID: 4647
    neXtProt AC: NX_Q13402
    UniProt: Q13402

  • Chr Location
    11q13.5; chr11:77128246-77215241 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Myo7a mouse models; 7 with human MYO7A associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 13 models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    14 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    86 phenotypes from 21 alleles in 23 genetic backgrounds
    11 phenotypes from multigenic genotypes
    12 images
    92 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
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
neoplasm
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
less
  • All GO Annotations
    139
  • GO References
    53
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1752
  • Tissues
    141
  • cDNA Data
    32
  • Literature Summary
    241
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 46
      Genomic 6
      cDNA 33
      Primer pair 6
      Other 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 411
      Developmental Gene Expression 241
      Diseases 12
      Gene Ontology 53
      Phenotypes 92
    • 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:354051 Kagoshima H, et al., EBF1 Limits the Numbers of Cochlear Hair and Supporting Cells and Forms the Scala Tympani and Spiral Limbus during Inner Ear Development. J Neurosci. 2024 Feb 14;44(7)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory