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Gene : BMP2 Homo sapiens

Name  ? bone morphogenetic protein 2 Cytological Location  20p12.3
Brief Description  bone morphogenetic protein 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, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]
  • synonyms:
  • NM_001200,
  • BMP2,
  • BDA2,
  • SSFSC,
  • OTTHUMG00000031833,
  • BMP2A,
  • uc002wmu.2,
  • BMP2A,
  • HGNC:1069
  • identifiers:
  • 650,
  • ENSG00000125845,
  • BMP2

Genome feature

Region: gene ? Length: 12561  
Location: 20:6767686-6780246 Cyto location: 20p12.3


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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

3 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

142 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results