SOST gene (17q21.31),
Sclerostin
sclerostin precursor [Homo sapiens]
NCBI Reference Sequence: NP_079513.1
LOCUS NP_079513 213 aa linear PRI 23-JUN-2018 DEFINITION sclerostin precursor [Homo sapiens]. ACCESSION NP_079513 VERSION NP_079513.1 DBSOURCE REFSEQ: accession NM_025237.2 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 213) AUTHORS Wu T, Wang LN, Tang DR and Sun FY. TITLE SOST silencing promotes proliferation and invasion and reduces apoptosis of retinoblastoma cells by activating Wnt/beta-catenin signaling pathway JOURNAL Gene Ther. 24 (7), 399-407 (2017) PUBMED 28485721 REMARK GeneRIF: SOST silencing promotes the proliferation, invasion and migration, and decreases the apoptosis of human retinoblastoma cells by activating the Wnt/beta-catenin signaling pathway. REFERENCE 2 (residues 1 to 213) AUTHORS Tartaglione L, Pasquali M, Rotondi S, Muci ML, Leonangeli C, Farcomeni A, Fassino V and Mazzaferro S. TITLE Interactions of sclerostin with FGF23, soluble klotho and vitamin D in renal transplantation JOURNAL PLoS ONE 12 (5), e0178637 (2017) PUBMED 28558021 REMARK GeneRIF: Sclerostin levels in KTR are normal and influenced more by bone turnover than by eGFR. Its involvement with other hormones of mineral homeostasis (FGF23/Klotho and Vitamin D) is part of the sophisticated cross-talk between bone and the kidney Publication Status: Online-Only REFERENCE 3 (residues 1 to 213) AUTHORS Behets GJ, Viaene L, Meijers B, Blocki F, Brandenburg VM, Verhulst A, D'Haese PC and Evenepoel P. TITLE Circulating levels of sclerostin but not DKK1 associate with laboratory parameters of CKD-MBD JOURNAL PLoS ONE 12 (5), e0176411 (2017) PUBMED 28493902 REMARK GeneRIF: In chronic kidney disease, serum levels of the Wnt inhibitors DKK1 and sclerostin are unrelated, indicating different sites of origin and/ or different regulatory mechanisms. Sclerostin, as opposed to DKK1, may qualify as a biomarker of chronic kidney disease-mineral and bone and mineral disorder (CKD-MBD), particularly in dialysis patients. Publication Status: Online-Only REFERENCE 4 (residues 1 to 213) AUTHORS Saritekin I, Acikgoz S, Bayraktaroglu T, Kuzu F, Can M, Guven B, Mungan G, Buyukuysal C and Sarikaya S. TITLE Sclerostin and bone metabolism markers in hyperthyroidism before treatment and interrelations between them JOURNAL Acta Biochim. Pol. 64 (4), 597-602 (2017) PUBMED 29059259 REMARK GeneRIF: No difference was found in the serum sclerostin levels between the hyperthyroidism patients and healthy control. REFERENCE 5 (residues 1 to 213) AUTHORS Shi J, Ying H, Du J and Shen B. TITLE Serum Sclerostin Levels in Patients with Ankylosing Spondylitis and Rheumatoid Arthritis: A Systematic Review and Meta-Analysis JOURNAL Biomed Res Int 2017, 9295313 (2017) PUBMED 28553652 REMARK GeneRIF: The difference of serum sclerostin levels in Ankylosing Spondylitis and Rheumatoid Arthritis patients was not significantly different from HC, indicating that the sclerostin may not associate with the development of Ankylosing Spondylitis and Rheumatoid Arthritis. Review article Erratum:[Biomed Res Int. 2017;2017:3953474. PMID: 29181394] REFERENCE 6 (residues 1 to 213) AUTHORS Staehling-Hampton K, Proll S, Paeper BW, Zhao L, Charmley P, Brown A, Gardner JC, Galas D, Schatzman RC, Beighton P, Papapoulos S, Hamersma H and Brunkow ME. TITLE A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population JOURNAL Am. J. Med. Genet. 110 (2), 144-152 (2002) PUBMED 12116252 REFERENCE 7 (residues 1 to 213) AUTHORS Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D and Van Hul W. TITLE Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease JOURNAL J. Med. Genet. 39 (2), 91-97 (2002) PUBMED 11836356 REMARK GeneRIF: A 52 kb deletion has been identified downstream of the SOST gene in patients with van Buchem disease. REFERENCE 8 (residues 1 to 213) AUTHORS Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D and Van Hul W. TITLE Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST) JOURNAL Hum. Mol. Genet. 10 (5), 537-543 (2001) PUBMED 11181578 REFERENCE 9 (residues 1 to 213) AUTHORS Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P and Mulligan J. TITLE Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein JOURNAL Am. J. Hum. Genet. 68 (3), 577-589 (2001) PUBMED 11179006 REFERENCE 10 (residues 1 to 213) AUTHORS Beighton,P.H., Hamersma,H. and Brunkow,M.E. TITLE SOST-Related Sclerosing Bone Dysplasias JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993) PUBMED 20301406 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF326739.1. This sequence is a reference standard in the RefSeqGene project. 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF326739.1, AY358627.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142363 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..213 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.31" Protein 1..213 /product="sclerostin precursor" /calculated_mol_wt=21522 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2526 mat_peptide 24..213 /product="sclerostin" /calculated_mol_wt=21522 Region 28..210 /region_name="GHB_like" /note="Glycoprotein hormone beta chain homologues; cl21545" /db_xref="CDD:328788" CDS 1..213 /gene="SOST" /gene_synonym="CDD; DAND6; SOST1; VBCH" /coded_by="NM_025237.2:48..689" /db_xref="CCDS:CCDS11468.1" /db_xref="GeneID:50964" /db_xref="HGNC:HGNC:13771" /db_xref="MIM:605740" ORIGIN 1 mqlplalclv cllvhtafrv vegqgwqafk ndateiipel geypepppel ennktmnrae 61 nggrpphhpf etkdvseysc relhftryvt dgpcrsakpv telvcsgqcg parllpnaig 121 rgkwwrpsgp dfrcipdryr aqrvqllcpg geaprarkvr lvasckckrl trfhnqselk 181 dfgteaarpq kgrkprprar sakanqaele nay //
