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Myo5a Gene Detail
Summary
  • Symbol
    Myo5a
  • Name
    myosin VA
  • Synonyms
    9630007J19Rik, Dbv, flail, MVa, Myo5, MyoVA, nmf244
  • Feature Type
    protein coding gene
  • IDs
    MGI:105976
    NCBI Gene: 17918
  • Alliance
  • Transcription Start Sites
    25 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:74978297-75130970 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 9, 42.26 cM
  • Mapping Data
    155 experiments
Strain
Comparison
more
  • SNPs within 2kb
    454 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105976
protein coding gene Chr9:74975183-75130970 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035034
protein coding gene Chr9:75352285-75514300 (+)
A/J MGP_AJ_G0035015
protein coding gene Chr9:72718086-72874774 (+)
AKR/J MGP_AKRJ_G0034944
protein coding gene Chr9:74463764-74624834 (+)
BALB/cJ MGP_BALBcJ_G0035007
protein coding gene Chr9:72405656-72559973 (+)
C3H/HeJ MGP_C3HHeJ_G0034716
protein coding gene Chr9:74933808-75093641 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035526
protein coding gene Chr9:77371278-77531506 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032437
protein coding gene Chr9:72090849-72245153 (+)
CAST/EiJ MGP_CASTEiJ_G0034038
protein coding gene Chr9:75269218-75433380 (+)
CBA/J MGP_CBAJ_G0034689
protein coding gene Chr9:80013385-80180121 (+)
DBA/2J MGP_DBA2J_G0034848
protein coding gene Chr9:72393895-72557224 (+)
FVB/NJ MGP_FVBNJ_G0034790
protein coding gene Chr9:71707111-71858968 (+)
LP/J MGP_LPJ_G0034929
protein coding gene Chr9:75606787-75767690 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034831
protein coding gene Chr9:81114862-81282418 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035548
protein coding gene Chr9:74629521-74781500 (+)
PWK/PhJ MGP_PWKPhJ_G0033742
protein coding gene Chr9:72678703-72837260 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033575
protein coding gene Chr9:74843711-75009796 (+)
WSB/EiJ MGP_WSBEiJ_G0034150
protein coding gene Chr9:74539624-74700224 (+)



Homology
more
  • Human Ortholog
    MYO5A, myosin VA
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MYO5A, myosin VA
  • Synonyms
    GS1, MYH12, MYO5, MYR12
  • Links
    NCBI Gene ID: 4644
    neXtProt AC: NX_Q9Y4I1
    UniProt: Q9Y4I1

  • Chr Location
    15q21.2; chr15:52307281-52529132 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Myo5a mouse models; 1 with human MYO5A associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    49 phenotypes from 54 alleles in 30 genetic backgrounds
    27 phenotypes from multigenic genotypes
    5 images
    104 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.
Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death.
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 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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034593 Ensembl Gene Model | MGI Sequence Detail 152674 C57BL/6J ±  kb
    transcript ENSMUST00000155282 Ensembl | MGI Sequence Detail 6372 Not Applicable  
    polypeptide ENSMUSP00000117493 Ensembl | MGI Sequence Detail 1855 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 47
      Genomic 19
      cDNA 25
      Primer pair 1
      Other 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-14365, MGD-MRK-2338, MGD-MRK-28030, MGD-MRK-33656, MGD-MRK-8805, MGI:1096356, MGI:1343057, MGI:2143030, MGI:2143108
    References
    more
    • Summaries
      All 307
      Developmental Gene Expression 12
      Diseases 3
      Gene Ontology 52
      Phenotypes 104
    • Earliest
      J:28864 Gates WH, Linkage of Short Ear and Density in the House Mouse. Proc Natl Acad Sci U S A. 1927 Aug;13(8):575-8
    • Latest
      J:337714 Taura Y, et al., Myosin Va, a Novel Interaction Partner of STXBP1, Is Required to Transport Syntaxin1A to the Plasma Membrane. Neuroscience. 2023 Jun 12;524:256-268

    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)
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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory