Tgfbr2
Gene Detail

Symbol Name ID

Tgfbr2 transforming growth factor, beta receptor II MGI:98729

Synonyms

1110020H15Rik, TbetaRII, TbetaR-II, TBR-II

Feature Type

protein coding gene

Genetic Map

Chromosome 9

68.39 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr9:116087698-116175363 bp, - strand From Ensembl annotation of GRCm38   87666 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:2435  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: transforming growth factor-beta receptor, type II
Gene Tree: Tgfbr2

Human homologs

Human Homolog		TGFBR2, transforming growth factor, beta receptor II (70/80kDa)
NCBI Gene ID		7048
neXtProt AC		NX_P37173
Human Synonyms		AAT3, FAA3, LDS1B, LDS2B, MFS2, RIIC, TAAD2, TGFbeta-RII, TGFR-2
Human Chr (Location)		3p22; chr3:30647994-30735634 (+)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human TGFBR2

Alleles and phenotypes

All alleles(9) : Targeted(9)
 

Homozygotes for targeted null mutations die in midgestation with impaired yolk sac hematopoiesis and vasculogenesis. Selective knockouts in bone marrow cells and cranial neural crest show inflammation and cleft palate/calvarial defects, respectively.

 
Human Diseases Modeled Using Mouse Tgfbr2 (2)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (97 annotations)

Process	activation of protein kinase activity, apoptotic process, ...
Component	caveola, cell surface, ...
Function	ATP binding, glycosaminoglycan binding, ...

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

Expression

Literature Summary: (65 records)
Data Summary: Results (263)    Tissues (176)    Images (40)
Theiler Stages: 2, 3, 9, 12, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	13
RNA in situ	162
Western blot	4
RT-PCR	65
RNase protection	19

cDNA source data(119)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(126) Genomic(1) cDNA(119) Primer pair(6)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000032440 (Evidence)
Entrez Gene	21813 (Evidence)
UniGene	172346
DFCI	TC1575335, TC1579112, TC1607433, TC1621595, TC1737701
DoTS	DT.101379137, DT.491510, DT.94381729, DT.97368389, DT.97376912
EC	2.7.11.30
Consensus CDS Project	CCDS23601.1, CCDS23602.1
International Mouse Knockout Project Status	Tgfbr2

Sequences

Length	Strain/Species
genomic	ENSMUSG00000032440	Ensembl Gene Model | MGI Sequence Detail	87666	C57BL/6J
transcript	ENSMUST00000061101	Ensembl | MGI Sequence Detail	4785	Not Applicable
polypeptide	ENSMUSP00000062333	Ensembl | MGI Sequence Detail	592	Not Applicable

All sequences(45) RefSeq(4) UniProt(7)

Polymorphisms

RFLP(1) : SNPs(365 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000333	Activin type II/Transforming growth factor-beta II receptor
InterPro	IPR017441	Protein kinase, ATP binding site
InterPro	IPR000719	Protein kinase, catalytic domain
InterPro	IPR011009	Protein kinase-like domain
InterPro	IPR008271	Serine/threonine-protein kinase, active site
InterPro	IPR015013	Transforming growth factor beta receptor 2 ectodomain
InterPro	IPR017194	Transforming growth factor-beta receptor, type II
Protein Ontology	PR:000000005	TGF-beta receptor type-2

References

(Earliest) J:1339 Massague J, Receptors for the TGF-beta family. Cell. 1992 Jun 26;69(7):1067-70
(Latest) J:194043 Iwata J, et al., Smad4-Irf6 genetic interaction and TGFbeta-mediated IRF6 signaling cascade are crucial for palatal fusion in mice. Development. 2013 Mar;140(6):1220-30
All references(237)

Other accession IDs

MGD-MRK-15071, MGI:1923554, MGI:2143233