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Actn2 Gene Detail
Summary
  • Symbol
    Actn2
  • Name
    actinin alpha 2
  • Synonyms
    1110008F24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:109192
    NCBI Gene: 11472
Location & Maps
more
  • Sequence Map
    Chr13:12269426-12340760 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      71335 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ACTN2, actinin alpha 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ACTN2, actinin alpha 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CMD1AA, CMH23
  • Links
    NCBI Gene ID: 88
    neXtProt AC: NX_P35609

  • Chr Location
    1q42-q43; chr1:236686454-236764631 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ACTN2 associations

Human Disease Mouse Models
       Cardiomyopathy, Dilated, 1aa, with or without Left Ventricular Noncompaction;   OMIM: 612158
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotype references
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 OTTMUSG00000017028 VEGA Gene Model | MGI Sequence Detail 71335 C57BL/6J ±  kb
transcript OTTMUST00000041266 VEGA | MGI Sequence Detail 3013 Not Applicable  
polypeptide OTTMUSP00000018506 VEGA | MGI Sequence Detail 894 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    302 from dbSNP Build 137
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 120
    Genomic 3
    cDNA 113
    Primer pair 4

    Microarray probesets 2
Other
Accession IDs
less
MGD-MRK-38236, MGI:1920965
References
more
  • Summaries
    All 90
    Developmental Gene Expression 41
    Gene Ontology 27
    Phenotypes 6
  • Earliest
    J:29279 Patapoutian A, et al., Disruption of the mouse MRF4 gene identifies multiple waves of myogenesis in the myotome. Development. 1995 Oct;121(10):3347-58
  • Latest
    J:224310 Ishihara T, et al., Dynamics of mitochondrial DNA nucleoids regulated by mitochondrial fission is essential for maintenance of homogeneously active mitochondria during neonatal heart development. Mol Cell Biol. 2015 Jan;35(1):211-23

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
02/02/2016
MGI 6.02
The Jackson Laboratory