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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
Chr9:119402444-119433501 bp, + strand
From Ensembl annotation of GRCm38

  31058 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: ACVR2B
Protein SuperFamily: type II serine/threonine-protein kinase receptor, Activin/BMP types
Gene Tree: Acvr2b

Human
homologs
ACVR2B, activin A receptor, type IIB
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 93
neXtProt AC: NX_Q13705

Human Synonyms: ActR-IIB, ACTRIIB, HTX4

Human Chr (Location): 3p22; chr3:38454299-38493142 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ACVR2B

Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Gene trapped(10) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Acvr2b (2)    Mutations Annotated to Human Diseases (1)   
Interactions
Acvr2b interacts with 14 markers (Mir344d-2, Mir503, Mir674, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (81 annotations)
Process activation of protein kinase activity, activin receptor signaling pathway, ...
Component cell, cytoplasm, ...
Function activin binding, ATP binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (35 records)
Data Summary: Results (448)    Tissues (177)    Images (69)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 374
Northern blot 25
RT-PCR 49
cDNA source data(38)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA ACVR2B ; Xenbase acvr2b ; ZFIN acvr2b    NEW 
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 Phenotyping Consortium Status Acvr2b
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000061393 Ensembl Gene Model | MGI Sequence Detail 31058 C57BL/6J ±  kb
transcript ENSMUST00000165044 Ensembl | MGI Sequence Detail 1696 Not Applicable 
polypeptide ENSMUSP00000126108 Ensembl | 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
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:219394 Boroviak T, et al., The ability of inner-cell-mass cells to self-renew as embryonic stem cells is acquired following epiblast specification. Nat Cell Biol. 2014 Jun;16(6):516-28
All references(89)
Disease annotation references (1)
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
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory