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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
Location & Maps
more
  • Sequence Map
    Chr9:75071015-75223688 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      152674 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 42.26 cM
  • Mapping Data
    155 experiments
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

  • Chr Location
    15q21; chr15:52307283-52529050 (-)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 20100
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: MYO5A
  • Gene Tree
    Myo5a
Human Diseases
more
  • Diseases
    2 with Myo5a mouse models; 1 with human MYO5A associations

Human Disease Mouse Models
       Griscelli Syndrome, Type 1; GS1   OMIM: 214450 View 2 models
       Elejalde Disease   OMIM: 256710 View 1 model
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
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.
  • All Mutations and Alleles
    99
  • Chemically and radiation induced
    1
  • Chemically induced (ENU)
    24
  • Chemically induced (other)
    1
  • Gene trapped
    3
  • Radiation induced
    11
  • Spontaneous
    55
  • Targeted
    4
  • Genomic Mutations
    1 involving Myo5a
  • Incidental Mutations
    Mutagenetix , APF , CvDC
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
    110
  • GO References
    46
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
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
    19
  • Literature Summary
    6
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016492 VEGA Gene Model | MGI Sequence Detail 152674 C57BL/6J ±  kb
transcript OTTMUST00000042678 VEGA | MGI Sequence Detail 6372 Not Applicable  
polypeptide OTTMUSP00000019176 VEGA | MGI Sequence Detail 1855 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    455 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 44
    Genomic 19
    cDNA 23
    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 278
    Developmental Gene Expression 6
    Diseases 3
    Gene Ontology 46
    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:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
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
09/20/2016
MGI 6.05 		The Jackson Laboratory