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Gene : GDF5 Homo sapiens

Name  ? growth differentiation factor 5 Cytological Location  20q11.22
Brief Description  growth differentiation factor 5
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 the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]
  • synonyms:
  • LAP4,
  • DUPANS,
  • cartilage-derived morphogenetic protein-1,
  • BMP14,
  • NM_000557,
  • CDMP1,
  • uc032phz.2,
  • BMP-14,
  • LAP-4,
  • BMP14,
  • OTTHUMG00000032341,
  • HGNC:4220,
  • SYM1B,
  • BDA1C,
  • GDF5,
  • SYNS2,
  • X80915,
  • CDMP1,
  • OS5
  • identifiers:
  • 8200,
  • ENSG00000125965,
  • GDF5

Genome feature

Region: gene ? Length: 21403  
Location: 20:35433347-35454749 reverse strand Cyto location: 20q11.22


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

9 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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

Gene Ontology

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Other

3753 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results