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SOST sclerostin [ Homo sapiens (human) ]

Gene ID: 50964, updated on 28-Nov-2021

Summary

Official Symbol
SOSTprovided by HGNC
Official Full Name
sclerostinprovided by HGNC
Primary source
HGNC:HGNC:13771
See related
Ensembl:ENSG00000167941 MIM:605740
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDD; VBCH; DAND6; SOST1
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]
Expression
Restricted expression toward kidney (RPKM 7.5) See more
Orthologs
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Genomic context

See SOST in Genome Data Viewer
Location:
17q21.31
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (43753738..43758791, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41831106..41836159, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2594 Neighboring gene uncharacterized LOC107985085 Neighboring gene Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene Neighboring gene dual specificity phosphatase 3 Neighboring gene Sharpr-MPRA regulatory region 13819 Neighboring gene CFAP97 domain containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Craniodiaphyseal dysplasia, autosomal dominant
MedGen: C2675746 OMIM: 122860 GeneReviews: Not available
Compare labs
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
New sequence variants associated with bone mineral density.
GeneReviews: Not available
Sclerosteosis 1 Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables BMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables heparin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008078.2 RefSeqGene

    Range
    4998..10051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_852

mRNA and Protein(s)

  1. NM_025237.3NP_079513.1  sclerostin precursor

    See identical proteins and their annotated locations for NP_079513.1

    Status: REVIEWED

    Source sequence(s)
    AC055813, AF326739
    Consensus CDS
    CCDS11468.1
    UniProtKB/Swiss-Prot
    Q9BQB4
    Related
    ENSP00000301691.1, ENST00000301691.3
    Conserved Domains (1) summary
    cl21545
    Location:28210
    GHB_like; Glycoprotein hormone beta chain homologues

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    43753738..43758791 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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