TGFBR2
Sign in to saveAlso known as AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2
protein-coding gene in the species Homo sapiens
Gene data
TGFBR2- Name
- transforming growth factor beta receptor 2
- Type
- protein-coding
- Position
- 30,606,478–30,694,249 (+)
- Aliases
- AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TBR-ii, TBRII
- Ensembl
- ENSG00000163513
- RefSeq RNA
- NM_001024847.3, NM_001407126.1, NM_001407127.1, NM_001407128.1, NM_001407129.1
- RefSeq protein
- NP_001020018.1, NP_001394055.1, NP_001394056.1, NP_001394057.1, NP_001394058.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
transforming growth factor beta receptor 2
- Symbol
- TGFBR2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:30,606,478-30,694,249
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein TGFBR2 PDB 1ktz.png
Show 8 more facts
- exact match
- identifiers.org/ncbigene/7048
- HomoloGene ID
- 2435
- found in taxon
- Homo sapiens
- genomic end
- 30735634
- genomic start
- 30606601
- chromosome
- human chromosome 3
- cytogenetic location
- 3p24.1
- expressed in
- synovial joint
via Wikidata · CC0