Transforming Growth Factor-Beta Receptor, Type II

Alternative Names

  • TGFBR2

Associated Diseases

Loeys-Dietz Syndrome 2
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OMIM Number

190182

NCBI Gene ID

7048

Uniprot ID

P37173

Length

87,787 bases

No. of Exons

14

No. of isoforms

3

Protein Name

TGF-beta receptor type-2

Molecular Mass

64568 Da

Amino Acid Count

567

Genomic Location

chr3:30,606,356-30,694,142

Gene Map Locus
3p24.1

Description

The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003242.6:c.1301T>ASaudi ArabiaNC_000003.12:g.30674151T>APathogenicLikely PathogenicLoeys-Dietz Syndrome 2NG_007490.1:g.72650T>A; NM_003242.6:c.1301T>A; NP_003233.4:p.Met434Lys15751589541687722
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