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Gene : TGFB2 Homo sapiens

Name  ? transforming growth factor beta 2 Cytological Location  1q41
Brief Description  transforming growth factor beta 2
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. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
  • synonyms:
  • transforming growth factor, beta 2,
  • HGNC:11768,
  • NM_003238,
  • M19154,
  • OTTHUMG00000039521,
  • G-TSF,
  • uc001hlm.4,
  • LDS4,
  • TGFB2,
  • TGF-beta2,
  • prepro-transforming growth factor beta-2
  • identifiers:
  • 7042,
  • ENSG00000092969,
  • TGFB2

Genome feature

Region: gene ? Length: 99336  
Location: 1:218345284-218444619 Cyto location: 1q41


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

126 SN Ps

5 Cross References

19 Data Sets

37 Homologues

0 Located Features

90 Rna Seq Results