Homo sapiens Gene: SOST
Summary
InnateDB Gene IDBG-52907.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SOST
Gene Name sclerostin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000167941
Encoded Proteins
sclerostin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:43753731-43758788
Strand Reverse strand
Band q21.31
Transcripts
ENST00000301691 ENSP00000301691
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008201 heparin binding
Biological Process
GO:0001503 ossification
GO:0009612 response to mechanical stimulus
GO:0016055 Wnt signaling pathway
GO:0030178 negative regulation of Wnt signaling pathway
GO:0030279 negative regulation of ossification
GO:0030514 negative regulation of BMP signaling pathway
GO:0031333 negative regulation of protein complex assembly
GO:0045893 positive regulation of transcription, DNA-templated
GO:0071374 cellular response to parathyroid hormone stimulus
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:2000054 negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification
Cellular Component
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
Signaling by WNT in cancer pathway
Signaling by Wnt pathway
Signal Transduction pathway
negative regulation of TCF-dependent signaling by WNT ligand antagonists pathway
TCF dependent signaling in response to WNT pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
Disease pathway
KEGG
Wnt signaling pathway pathway
INOH
PID NCI
Cross-References
SwissProt Q9BQB4
TrEMBL
UniProt Splice Variant
Entrez Gene 50964
UniGene Hs.349204
RefSeq NM_025237
HUGO HGNC:13771
OMIM 605740
CCDS CCDS11468
HPRD
IMGT
EMBL AC055813 AF326736 AF326739 AF331844 AY358203 AY358627 BC101086 BC101087 BC101088 BC101089
GenPept AAI01087 AAI01088 AAI01089 AAI01090 AAK13451 AAK13454 AAK16158 AAQ88570 AAQ88990
RNA Seq Atlas 50964