TGFBR2 transforming growth factor beta receptor 2

Gene ID: 7048, updated on 21-Mar-2023
Gene type: protein coding
Also known as: AAT3; FAA3; LDS2; MFS2; RIIC; LDS1B; LDS2B; TAAD2; TBRII; TBR-ii; TGFR-2; tbetaR-II; 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

Description	Tests
Colorectal cancer, hereditary nonpolyposis, type 6 MedGen: C1860896OMIM: 614331GeneReviews: Not available	See labs
Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243GeneReviews: Heritable Thoracic Aortic Disease Overview	See 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
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

Genomic context

Location:: 3p24.1

Sequence:: Chromosome: 3; NC_000003.12 (30606356..30694142)

Total number of exons:: 14

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for TGFBR2 variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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