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Gene : GDF2 Homo sapiens

Name  ? growth differentiation factor 2 Cytological Location  10q11.22
Brief Description  growth differentiation factor 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 each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]
  • synonyms:
  • BMP-9,
  • uc001jfa.2,
  • OTTHUMG00000188320,
  • AF156891,
  • BMP9,
  • GDF2,
  • HGNC:4217,
  • BMP9,
  • HHT5,
  • NM_016204,
  • BMP-9
  • identifiers:
  • 2658,
  • ENSG00000263761,
  • GDF2

Genome feature

Region: gene ? Length: 5135  
Location: 10:47322454-47327588 Cyto location: 10q11.22


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

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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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

11 SN Ps

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results