Acvr2a
Gene Detail

Symbol Name ID

Acvr2a activin receptor IIA MGI:102806

Synonyms

ActRIIa, Acvr2, tActRII

Feature Type

protein coding gene

Genetic Map

Chromosome 2

28.38 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr2:48814109-48903269 bp, + strand From VEGA annotation of GRCm38   89161 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:20391  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: type II serine/threonine-protein kinase receptor, Activin/BMP types
Gene Tree: Acvr2a

Human homologs

Human Homolog		ACVR2A, activin A receptor, type IIA
NCBI Gene ID		92
neXtProt AC		NX_P27037
Human Synonyms		ACTRII, ACVR2
Human Chr (Location)		2q22.3; chr2:148602570-148688393 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(16) : Targeted(5) Gene trapped(11)
 

While most mice homozygous for targeted mutations that inactivate this gene appear normal, a few display skeletal and facial abnormalities. As adults, follicle-stimulating hormone is suppressed, affecting reproduction.

 
Human Diseases Modeled Using Mouse Acvr2a (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (59 annotations)

Process	activin receptor signaling pathway, anterior/posterior pattern specification, ...
Component	cell surface, cytoplasm, ...
Function	activin-activated receptor activity, activin binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (21 records)
Data Summary: Results (160)    Tissues (122)    Images (25)
Theiler Stages: 4, 7, 8, 9, 11, 13, 15, 17, 19, 20, 21, 22, 23, 24, 25, 28

Assay Type	Results
RNA in situ	123
Northern blot	13
RT-PCR	24

cDNA source data(14)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(34) Genomic(7) cDNA(18) Primer pair(7) Other(2)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000012394 (Evidence)
Ensembl Gene Model	ENSMUSG00000052155 (Evidence)
Entrez Gene	11480 (Evidence)
NIA Mouse Gene Index	U001727
EC	2.7.11.30
PDB	1BTE, 2GOO, 1LX5
Consensus CDS Project	CCDS16021.1
International Mouse Knockout Project Status	Acvr2a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012394	VEGA Gene Model | MGI Sequence Detail	89161	C57BL/6J
transcript	OTTMUST00000029496	VEGA | MGI Sequence Detail	5686	Not Applicable
polypeptide	OTTMUSP00000013280	VEGA | MGI Sequence Detail	513	Not Applicable

All sequences(29) RefSeq(2) UniProt(3)

Polymorphisms

PCR(1) : SNPs(162 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR015768	Activin type II receptor
InterPro	IPR000333	Activin type II/Transforming growth factor-beta II receptor
InterPro	IPR000719	Protein kinase, catalytic domain
InterPro	IPR011009	Protein kinase-like domain
InterPro	IPR008271	Serine/threonine-protein kinase, active site
InterPro	IPR000472	TGF-beta receptor/activin receptor, type I/II
Protein Ontology	PR:000000070	activin receptor type-2A

References

(Earliest) J:11226 Mathews LS, et al., Expression cloning of an activin receptor, a predicted transmembrane serine kinase. Cell. 1991 Jun 14;65(6):973-82
(Latest) J:189569 Han R, et al., A pair of transmembrane receptors essential for the retention and pigmentation of hair. Genesis. 2012 Nov;50(11):783-800
All references(91)

Other accession IDs

MGD-MRK-19714