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TGFBR2 transforming growth factor beta receptor 2

Gene ID: 7048, updated on 9-Jan-2022
Gene type: protein coding
Also known as: AAT3; FAA3; LDS2; MFS2; RIIC; LDS1B; LDS2B; TAAD2; TBRII; TBR-ii; TGFR-2; TGFbeta-RII

Summary

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. [provided by RefSeq, Aug 2017]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Familial thoracic aortic aneurysm and aortic dissectionSee labs
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
GeneReviews: Not available
Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
GeneReviews: Not available
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
GeneReviews: Not available
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
GeneReviews: Not available
Hereditary nonpolyposis colorectal cancer type 6
MedGen: C1860896OMIM: 614331GeneReviews: Not available
See labs
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available
Loeys-Dietz syndrome 2
MedGen: C2674574OMIM: 610168GeneReviews: Loeys-Dietz Syndrome
See labs
Malignant tumor of esophagus
MedGen: C0546837OMIM: 133239GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-04-11)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2012-04-11)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
3p24.1
Sequence:
Chromosome: 3; NC_000003.12 (30606472..30694142)
Total number of exons:
11

Links

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