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 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; chr1:236849770-236927558 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ACTN2

Alleles and phenotypes

All alleles(24) : Targeted(2) Gene trapped(22)

Gene Ontology (GO) classifications

All GO classifications: (45 annotations)

Process	actin crosslink formation, actin filament bundle assembly, ...
Component	cortical actin cytoskeleton, cytoplasm, ...
Function	actin binding, actin filament binding, ...

External Resources: FuncBase

Expression

Literature Summary: (31 records)
Data Summary: Results (118)    Tissues (112)    Images (14)
Theiler Stages: 10, 17, 18, 22, 23, 25, 26, 28

Assay Type	Results
Immunohistochemistry	9
RNA in situ	95
RT-PCR	14

cDNA source data(113)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(120) Genomic(3) cDNA(113) Primer pair(4)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000017028 (Evidence)
Ensembl Gene Model	ENSMUSG00000052374 (Evidence)
Entrez Gene	11472 (Evidence)
UniGene	37638
DFCI	TC1575140, TC1615300, TC1648481
DoTS	DT.101301984, DT.495121, DT.94395959
NIA Mouse Gene Index	U034512
Consensus CDS Project	CCDS26239.1
International Mouse Knockout Project Status	Actn2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017028	VEGA Gene Model | MGI Sequence Detail	71335	C57BL/6J
transcript	OTTMUST00000041266	VEGA | MGI Sequence Detail	3013	Not Applicable
polypeptide	OTTMUSP00000018506	VEGA | MGI Sequence Detail	894	Not Applicable

All sequences(35) RefSeq(2) UniProt(5)

Polymorphisms

PCR(2) : SNPs(281 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001589	Actinin-type, actin-binding, conserved site
InterPro	IPR026921	Alpha-actinin
InterPro	IPR002048	Calcium-binding EF-hand
InterPro	IPR001715	Calponin homology domain
InterPro	IPR018249	EF-HAND 2
InterPro	IPR014837	EF-hand, Ca insensitive
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:187422 Collin GB, et al., The Alstrom syndrome protein, ALMS1, interacts with alpha-actinin and components of the endosome recycling pathway. PLoS One. 2012;7(5):e37925
All references(74)

Other accession IDs

MGD-MRK-38236, MGI:1920965