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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
  • Gene Overview
    MyGene.info: MYO5A
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:75071015-75223688 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 42.26 cM
  • Mapping Data
    155 experiments
Strain
Comparison
more
  • SNPs within 2kb
    455 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105976
 protein coding gene Chr9:75071015-75223688 (.)
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
    10
  • Human Ortholog
    MYO5A, myosin VA
    Orthology source: HomoloGene, HGNC
  • Synonyms
    GS1, MYH12, MYO5, MYR12
  • Links
    NCBI Gene ID: 4644
    neXtProt AC: NX_Q9Y4I1
    UniProt: Q9Y4I1

  • Chr Location
    15q21.2; chr15:52307283-52529050 (-)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 20100
    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: MYO5A
  • Gene Tree
    Myo5a
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
    48 phenotypes from 54 alleles in 28 genetic backgrounds
    27 phenotypes from multigenic genotypes
    5 images
    93 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.
Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    130
  • GO References
    52
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
    104
  • Tissues
    39
  • cDNA Data
    21
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17918 NCBI Gene Model | MGI Sequence Detail 152674 C57BL/6J ±  kb
    transcript NM_010864 RefSeq | MGI Sequence Detail 11684 C57BL/6  
    polypeptide Q99104 UniProt | EBI | MGI Sequence Detail 1853 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      Genomic 19
      cDNA 25
      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 294
      Developmental Gene Expression 8
      Diseases 3
      Gene Ontology 52
      Phenotypes 93
    • 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:256230 Shin SW, et al., Cytoplasmic cleavage of DPPA3 is required for intracellular trafficking and cleavage-stage development in mice. Nat Commun. 2017 Nov 21;8(1):1643
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/13/2018
    MGI 6.13     		The Jackson Laboratory