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Acta2 Gene Detail
Summary
  • Symbol
    Acta2
  • Name
    actin, alpha 2, smooth muscle, aorta
  • Synonyms
    0610041G09Rik, Actvs, alphaSMA, a-SMA, SMalphaA
  • Feature Type
    protein coding gene
  • IDs
    MGI:87909
    NCBI Gene: 11475
  • Gene Overview
    MyGene.info: ACTA2
Location & Maps
more
  • Sequence Map
    Chr19:34241090-34255336 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14247 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 29.41 cM, cytoband C3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ACTA2, actin, alpha 2, smooth muscle, aorta
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ACTA2, actin, alpha 2, smooth muscle, aorta
    Orthology source: HomoloGene
  • Synonyms
    AAT6, ACTSA, MYMY5
  • Links
    NCBI Gene ID: 59
    neXtProt AC: NX_P62736

  • Chr Location
    10q23.3; chr10:88935074-88991390 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 133938
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;2 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: ACTA2
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human ACTA2 associations

Human Disease Mouse Models
       Aortic Aneurysm, Familial Thoracic 6; AAT6   OMIM: 611788
Moyamoya Disease 5; MYMY5   OMIM: 614042
Multisystemic Smooth Muscle Dysfunction Syndrome   OMIM: 613834
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 2 genetic backgrounds
    12 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.
Mice homozygous for a knock-out allele exhibit impaired vascular contractility and blood pressure homeostasis, increased blood-retina barrier permeability, and reduced retinal cone and rod function.
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
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000035783 Ensembl Gene Model | MGI Sequence Detail 14247 C57BL/6J ±  kb
transcript ENSMUST00000039631 Ensembl | MGI Sequence Detail 1781 Not Applicable  
polypeptide ENSMUSP00000048218 Ensembl | MGI Sequence Detail 377 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    190 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 389
    Genomic 7
    cDNA 374
    Primer pair 7
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1095, MGI:1915627
References
more
  • Summaries
    All 948
    Developmental Gene Expression 891
    Gene Ontology 13
    Phenotypes 12
  • Earliest
    J:9473 Min BH, et al., Nucleotide sequence of a mouse vascular smooth muscle alpha-actin cDNA. Nucleic Acids Res. 1988 Nov 11;16(21):10374
  • Latest
    J:231966 Zhang H, et al., Genetic lineage tracing identifies endocardial origin of liver vasculature. Nat Genet. 2016 May;48(5):537-43

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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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory