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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; chr3:38454299-38493142 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ACVR2B
Alleles
and
phenotypes
All alleles(16) : Targeted(6) 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: (79 annotations)
Process activation of protein kinase activity, anterior/posterior pattern specification, ...
Component cell, cytoplasm, ...
Function activin binding, ATP binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (33 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 TypeResults
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 ModelENSMUSG00000061393 (Evidence)
Entrez Gene11481 (Evidence)
UniGene390239
DFCITC1582976, TC1660559
DoTSDT.528605, DT.91336100, DT.94291544
NIA Mouse Gene IndexU011137
EC2.7.11.30
PDB1S4Y, 2H64
Consensus CDS ProjectCCDS23615.1
International Mouse Knockout Project StatusAcvr2b
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 11481 NCBI Gene Model | MGI Sequence Detail 31015 C57BL/6J ±  kb
transcript NM_007397 RefSeq | MGI Sequence Detail 1710 C57BL/6 
polypeptide P27040 UniProt | EBI | MGI Sequence Detail 536 Not Applicable 

For the selected sequences
All sequences(25) RefSeq(7) UniProt(1)
Polymorphisms PCR(1) : SNPs within 2kb(323 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:201148 Lee YS, et al., Regulation of GDF-11 and myostatin activity by GASP-1 and GASP-2. Proc Natl Acad Sci U S A. 2013 Sep 24;110(39):E3713-22
All references(88)
Other
accession IDs
MGD-MRK-1098

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
04/08/2014
MGI 5.17
The Jackson Laboratory