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Actn2
Gene Detail
 Symbol
Name
ID
Actn2
actinin alpha 2
MGI:109192
Synonyms 1110008F24Rik
Feature Type protein coding gene
Genetic Map
Chromosome 13
4.54 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr13:12269426-12340760 bp, - strand
From VEGA annotation of GRCm38

  71335 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:31016  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: alpha-actinin
Gene Tree: Actn2

Human
homologs
Human Homolog ACTN2, actinin, alpha 2
NCBI Gene ID 88
neXtProt AC  NX_P35609
Human Synonyms  CMD1AA
Human Chr (Location)  1q42-q43; chr1:236686454-236764631 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ACTN2
Mutations,
alleles, and
phenotypes
All mutations/alleles(26) : Gene trapped(22) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Actn2 interacts with 74 markers (Mir1a-1, Mir1a-2, Mir20a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (47 annotations)
Process focal adhesion assembly, microspike assembly, ...
Component cortical actin cytoskeleton, cytoplasm, ...
Function actin binding, actin filament binding, ...
External Resources: FuncBase
Expression
Literature Summary: (34 records)
Data Summary: Results (118)    Tissues (112)    Images (14)
Theiler Stages: 10, 17, 18, 22, 23, 25, 26, 28
Assay TypeResults
Immunohistochemistry 9
RNA in situ 95
RT-PCR 14
cDNA source data(113)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(120) Genomic(3) cDNA(113) Primer pair(4)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000017028 (Evidence)
Ensembl Gene ModelENSMUSG00000052374 (Evidence)
Entrez Gene11472 (Evidence)
UniGene37638
DFCITC1575140, TC1615300, TC1648481
DoTSDT.101301984, DT.495121, DT.94395959
NIA Mouse Gene IndexU034512
Consensus CDS ProjectCCDS26239.1
International Mouse Knockout Project StatusActn2
Sequences
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 sequences
All sequences(37) RefSeq(4) UniProt(5)
Polymorphisms PCR(2) : SNPs within 2kb(302 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001589 Actinin-type, actin-binding, conserved site
InterPro IPR001715 Calponin homology domain
InterPro IPR014837 EF-hand, Ca insensitive
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand-like domain
InterPro IPR018159 Spectrin/alpha-actinin
InterPro IPR002017 Spectrin repeat
Protein Ontology PR:000003689 alpha-actinin-2
References (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:199157 Caruso N, et al., Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy. PLoS Genet. 2013 Jun;9(6):e1003550
All references(85)
Other
accession IDs
MGD-MRK-38236, MGI:1920965

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
09/09/2014
MGI 5.19
The Jackson Laboratory