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Gene : SOST Homo sapiens

Name  ? sclerostin Cytological Location  17q21.31
Brief Description  sclerostin
description  Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]
  • synonyms:
  • NM_025237,
  • VBCH,
  • SOST,
  • HGNC:13771,
  • uc002iec.1,
  • OTTHUMG00000180888,
  • DAND6,
  • AF326736,
  • SOST1,
  • DAND6,
  • sclerosteosis,
  • CDD,
  • VBCH
  • identifiers:
  • 50964,
  • ENSG00000167941,
  • SOST

Genome feature

Region: gene ? Length: 5058  
Location: 17:43753731-43758788 reverse strand Cyto location: 17q21.31


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Function

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Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

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

Gene --> Alleles and Disease (clinVar data)

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

464 SN Ps

5 Cross References

17 Data Sets

4 Homologues

3 Located Features

90 Rna Seq Results