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    SOST sclerostin [ Homo sapiens (human) ]

    Gene ID: 50964, updated on 9-Dec-2024

    Summary

    Official Symbol
    SOSTprovided by HGNC
    Official Full Name
    sclerostinprovided by HGNC
    Primary source
    HGNC:HGNC:13771
    See related
    Ensembl:ENSG00000167941 MIM:605740; AllianceGenome:HGNC:13771
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SOST in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43753738..43758791, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44606296..44611349, complement)
    RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr17:41754903-41755667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41767960-41768460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41768461-41768961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41779239-41780108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8563 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:41795928-41796532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8566 Neighboring gene Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:41811531-41812180 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:41821332-41821491 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:41831689-41831891 Neighboring gene Sharpr-MPRA regulatory region 3915 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
    Sclerosteosis 1 Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    New sequence variants associated with bone mineral density.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables carbohydrate binding EXP
    Inferred from Experiment
    more info
    PubMed 
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular function inhibitor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables molecular function inhibitor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
     
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Q495N9, Q9BQB4
      Related
      ENSP00000301691.1, ENST00000301691.3
      Conserved Domains (1) summary
      cl21545
      Location:28210
      GHB_like; Glycoprotein hormone beta chain homologues

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      44606296..44611349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)