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Gene : TGFB3 Homo sapiens

Name  ? transforming growth factor beta 3 Cytological Location  14q24.3
Brief Description  transforming growth factor beta 3
description  This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]
  • synonyms:
  • NM_003239,
  • OTTHUMG00000171489,
  • ARVD,
  • ARVD1,
  • prepro-transforming growth factor beta-3,
  • TGF-beta3,
  • uc001xsc.3,
  • ARVD1,
  • LDS5,
  • RNHF,
  • transforming growth factor, beta 3,
  • HGNC:11769,
  • ARVD,
  • arrhythmogenic right ventricular dysplasia 1,
  • TGFB3
  • identifiers:
  • 7043,
  • ENSG00000119699,
  • TGFB3

Genome feature

Region: gene ? Length: 24951  
Location: 14:75958061-75983011 reverse strand Cyto location: 14q24.3


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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

131 SN Ps

5 Cross References

18 Data Sets

36 Homologues

0 Located Features

90 Rna Seq Results