Acvr2b
Gene Detail

Symbol Name ID

Acvr2b activin receptor IIB MGI:87912

Synonyms

ActRIIB

Feature Type

protein coding gene

Genetic Map

Chromosome 9

71.33 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr9:119402501-119433515 bp, + strand From NCBI annotation of GRCm38   31015 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:863  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 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: Acvr2b

Human homologs

Human Homolog		ACVR2B, activin A receptor, type IIB
NCBI Gene ID		93
neXtProt AC		NX_Q13705
Human Synonyms		ActR-IIB, ACTRIIB, HTX4
Human Chr (Location)		3p22; chr3:38495790-38534633 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ACVR2B

Alleles and phenotypes

All alleles(15) : Targeted(5) Gene trapped(10)
 

Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.

 
Human Diseases Modeled Using Mouse Acvr2b (2)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (81 annotations)

Process	activation of protein kinase activity, activin receptor signaling pathway, ...
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: (31 records)
Data Summary: Results (448)    Tissues (177)    Images (69)
Theiler Stages: 2, 3, 6, 7, 8, 9, 11, 13, 18, 19, 20, 21, 22, 23, 24, 25, 28

Assay Type	Results
RNA in situ	374
Northern blot	25
RT-PCR	49

cDNA source data(38)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(49) Genomic(2) cDNA(39) Primer pair(5) Other(3)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000061393 (Evidence)
Entrez Gene	11481 (Evidence)
UniGene	390239
DFCI	TC1582976, TC1660559
DoTS	DT.528605, DT.91336100, DT.94291544
NIA Mouse Gene Index	U011137
EC	2.7.11.30
PDB	1S4Y, 2H64
Consensus CDS Project	CCDS23615.1
International Mouse Knockout Project Status	Acvr2b

Sequences

Length	Strain/Species
genomic	11481	NCBI Gene Model | MGI Sequence Detail	31015	C57BL/6J
transcript	NM_007397	RefSeq | MGI Sequence Detail	1710	C57BL/6
polypeptide	P27040	UniProt | EBI | MGI Sequence Detail	536	Not Applicable

All sequences(20) RefSeq(2) UniProt(1)

Polymorphisms

PCR(1) : SNPs(131 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:000000071	activin receptor type-2B

Graphical View of Protein Domain Structure

References

(Earliest) J:1073 Matzuk MM, et al., Structure of the mouse activin receptor type II gene. Biochem Biophys Res Commun. 1992 May 29;185(1):404-13
(Latest) J:189072 Spiller CM, et al., Endogenous Nodal signaling regulates germ cell potency during mammalian testis development. Development. 2012 Nov;139(22):4123-32
All references(85)

Other accession IDs

MGD-MRK-1098