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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:12269426-12340732 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 4.54 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    302 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109192
protein coding gene Chr13:12269426-12340760 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020229
protein coding gene Chr13:9011949-9087865 (-)
A/J MGP_AJ_G0020185
protein coding gene Chr13:8854116-8926722 (-)
AKR/J MGP_AKRJ_G0020160
protein coding gene Chr13:9048222-9120966 (-)
BALB/cJ MGP_BALBcJ_G0020168
protein coding gene Chr13:8840501-8912534 (-)
C3H/HeJ MGP_C3HHeJ_G0019972
protein coding gene Chr13:9181308-9254966 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020615
protein coding gene Chr13:9442621-9518827 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018222
protein coding gene Chr13:8680878-8751836 (-)
CAST/EiJ MGP_CASTEiJ_G0019510
protein coding gene Chr13:8878824-8960129 (-)
CBA/J MGP_CBAJ_G0019939
protein coding gene Chr13:9692806-9768348 (-)
DBA/2J MGP_DBA2J_G0020056
protein coding gene Chr13:8672795-8745805 (-)
FVB/NJ MGP_FVBNJ_G0020041
protein coding gene Chr13:8481614-8559845 (-)
LP/J MGP_LPJ_G0020130
protein coding gene Chr13:9117581-9193380 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020077
protein coding gene Chr13:9987252-10060942 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020643
protein coding gene Chr13:8940439-9018241 (-)
PWK/PhJ MGP_PWKPhJ_G0019273
protein coding gene Chr13:8708422-8781885 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019080
protein coding gene Chr13:8931270-9002015 (-)
WSB/EiJ MGP_WSBEiJ_G0019570
protein coding gene Chr13:8907084-8984934 (-)



Homology
more
  • Human Ortholog
    ACTN2, actinin alpha 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ACTN2, actinin alpha 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMD1AA, CMH23
  • Links
    NCBI Gene ID: 88
    neXtProt AC: NX_P35609
    UniProt: P35609

  • Chr Location
    1q43; chr1:236686454-236764631 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human ACTN2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotype references
Gene Ontology
(GO)
Classifications
less
  • 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 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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 11472 NCBI Gene Model | MGI Sequence Detail 71307 C57BL/6J ±  kb
transcript NM_033268 RefSeq | MGI Sequence Detail 3091 Not Specified  
polypeptide Q9JI91 UniProt | EBI | MGI Sequence Detail 894 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 121
    Genomic 3
    cDNA 114
    Primer pair 4

    Microarray probesets 2
Other
Accession IDs
less
MGD-MRK-38236, MGI:1920965
References
more
  • Summaries
    All 112
    Developmental Gene Expression 56
    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:263962 Wilczewski CM, et al., CHD4 and the NuRD complex directly control cardiac sarcomere formation. Proc Natl Acad Sci U S A. 2018 Jun 26;115(26):6727-6732

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
11/06/2018
MGI 6.13
The Jackson Laboratory