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Gene : GDF7 Homo sapiens

Name  ? growth differentiation factor 7 Cytological Location  2p24.1
Brief Description  growth differentiation factor 7
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 each subunit of the disulfide-linked homodimer. This protein may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]
  • synonyms:
  • BMP12,
  • AF522369,
  • OTTHUMG00000090781,
  • GDF7,
  • uc002rdz.2,
  • NM_182828,
  • HGNC:4222,
  • BMP12
  • identifiers:
  • 151449,
  • ENSG00000143869,
  • GDF7

Genome feature

Region: gene ? Length: 12100  
Location: 2:20667144-20679243 Cyto location: 2p24.1


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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

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

630 SN Ps

4 Cross References

14 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results