GeneID: 63



Names

Common Name: TGFBR3 Type: Gene
Chromosome: 1 (NC_000001.11) Locus: NG_027757.1 (TGFBR3)
HUGO Symbol: TGFBR3 Full Name: transforming growth factor beta receptor III
Exons: 18 Introns: 17

Description:
TGFBR3 is a transforming growth factor β (TGFβ) type III receptor. The TGFβ signal is transduced through type I (TGFBR1) and type II (TGFBR2) serine/threonine kinase receptors to downstream effectors that are involved in transcriptional regulatory networks. TGFBR2 binds the TGFβ ligands but it requires TGFBR1 for signalling. TGFBR3 has no known signalling domain. It is a membrane proteoglycan that functions as a co-receptor, binding TGFβ and presenting it to TGFBR2. It can also undergo ectodomain shedding to produce soluble TGFBR3, which binds and retains TGFβ to inhibit signalling. Decreased expression of this receptor has been observed in various cancers. Polymorphisms in this gene associated with osteonecrosis, pulmonary hypertension, stroke, priapism and leg ulceration in sickle cell patients.

Synonyms: BGCAN , betaglycan

Comments:
N/A

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Publications / Origin

  1. Baldwin C, Nolan VG, Wyszynski DF, Ma QL, Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L, Steinberg MH, Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis., Blood , 106(1), 372-5, 2005 PubMed
  2. Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH, Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia., Nat. Genet. , 37(4), 435-40, 2005 PubMed
  3. Nolan VG, Adewoye A, Baldwin C, Wang L, Ma Q, Wyszynski DF, Farrell JJ, Sebastiani P, Farrer LA, Steinberg MH, Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway., Br. J. Haematol. , 133(5), 570-8, 2006 PubMed
  4. Elliott L, Ashley-Koch AE, De Castro L, Jonassaint J, Price J, Ataga KI, Levesque MC, Brice Weinberg J, Eckman JR, Orringer EP, Vance JM, Telen MJ, Genetic polymorphisms associated with priapism in sickle cell disease., Br. J. Haematol. , 137(3), 262-7, 2007 PubMed
  5. Ashley-Koch AE, Elliott L, Kail ME, De Castro LM, Jonassaint J, Jackson TL, Price J, Ataga KI, Levesque MC, Weinberg JB, Orringer EP, Collins A, Vance JM, Telen MJ, Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease., Blood , 111(12), 5721-6, 2008 PubMed
  6. Flanagan JM, Frohlich DM, Howard TA, Schultz WH, Driscoll C, Nagasubramanian R, Mortier NA, Kimble AC, Aygun B, Adams RJ, Helms RW, Ware RE, Genetic predictors for stroke in children with sickle cell anemia., Blood , 117(24), 6681-4, 2011 PubMed
Created on 2016-04-26 11:07:36, Last reviewed on 2016-04-26 18:22:33 (Show full history)


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