LOCUS       NM_025237               2296 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens sclerostin (SOST), mRNA.
ACCESSION   NM_025237
VERSION     NM_025237.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2296)
  AUTHORS   McKean,D.M., Zhang,Q., Narayan,P., Morton,S.U., Strohmenger,V.,
            Tang,V.T., McAllister,S., Sharma,A., Quiat,D., Reichart,D.,
            DeLaughter,D.M., Wakimoto,H., Gorham,J.M., Brown,K., McDonough,B.,
            Willcox,J.A., Jang,M.Y., DePalma,S.R., Ward,T., Kim,R.,
            Cleveland,J.D., Seidman,J.G. and Seidman,C.E.
  CONSRTM   Pediatric Cardiac Genomics Consortium Investigators
  TITLE     Increased endothelial sclerostin caused by elevated DSCAM mediates
            multiple trisomy 21 phenotypes
  JOURNAL   J Clin Invest 134 (11), e167811 (2024)
   PUBMED   38828726
  REMARK    GeneRIF: Increased endothelial sclerostin caused by elevated DSCAM
            mediates multiple trisomy 21 phenotypes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2296)
  AUTHORS   Liu,Y., Yuan,M., He,J., Cai,L. and Leng,A.
  TITLE     The Impact of Non-alcohol Fatty Liver Disease on Bone Mineral
            Density is Mediated by Sclerostin by Mendelian Randomization Study
  JOURNAL   Calcif Tissue Int 114 (5), 502-512 (2024)
   PUBMED   38555554
  REMARK    GeneRIF: The Impact of Non-alcohol Fatty Liver Disease on Bone
            Mineral Density is Mediated by Sclerostin by Mendelian
            Randomization Study.
REFERENCE   3  (bases 1 to 2296)
  AUTHORS   Alramah,T., Cherian,P., Al-Khairi,I., Abu-Farha,M., Thanaraj,T.A.,
            Albatineh,A.N., Safadi,F., Ali,H., Abdul-Ghani,M., Tuomilehto,J.,
            Koistinen,H.A., Al-Mulla,F. and Abubaker,J.
  TITLE     Evaluating the correlation of sclerostin levels with obesity and
            type 2 diabetes in a multiethnic population living in Kuwait
  JOURNAL   Front Endocrinol (Lausanne) 15, 1392675 (2024)
   PUBMED   38711986
  REMARK    GeneRIF: Evaluating the correlation of sclerostin levels with
            obesity and type 2 diabetes in a multiethnic population living in
            Kuwait.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2296)
  AUTHORS   Starlinger,J., Santol,J., Kaiser,G. and Sarahrudi,K.
  TITLE     Close negative correlation of local and circulating Dickkopf-1 and
            Sclerostin levels during human fracture healing
  JOURNAL   Sci Rep 14 (1), 6524 (2024)
   PUBMED   38499638
  REMARK    GeneRIF: Close negative correlation of local and circulating
            Dickkopf-1 and Sclerostin levels during human fracture healing.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2296)
  AUTHORS   Jarjees,Z. and Sarhat,E.
  TITLE     ASSESSMENT OF OSTEOPONTIN, SCLEROSTIN, AND OSTEOCALCIN LEVELS IN
            PATIENTS WITH HYPOTHYROIDISM ON MEDICAL THERAPY
  JOURNAL   Georgian Med News (347), 131-135 (2024)
   PUBMED   38609129
  REMARK    GeneRIF: ASSESSMENT OF OSTEOPONTIN, SCLEROSTIN, AND OSTEOCALCIN
            LEVELS IN PATIENTS WITH HYPOTHYROIDISM ON MEDICAL THERAPY.
REFERENCE   6  (bases 1 to 2296)
  AUTHORS   Staehling-Hampton,K., Proll,S., Paeper,B.W., Zhao,L., Charmley,P.,
            Brown,A., Gardner,J.C., Galas,D., Schatzman,R.C., Beighton,P.,
            Papapoulos,S., Hamersma,H. and Brunkow,M.E.
  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  (bases 1 to 2296)
  AUTHORS   Balemans,W., Patel,N., Ebeling,M., Van Hul,E., Wuyts,W., Lacza,C.,
            Dioszegi,M., Dikkers,F.G., Hildering,P., Willems,P.J.,
            Verheij,J.B., 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  (bases 1 to 2296)
  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,A.F., Hill,S., Bueno,M., Ramos,F.J., Tacconi,P.,
            Dikkers,F.G., 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  (bases 1 to 2296)
  AUTHORS   Brunkow,M.E., Gardner,J.C., Van Ness,J., Paeper,B.W.,
            Kovacevich,B.R., Proll,S., Skonier,J.E., Zhao,L., Sabo,P.J., Fu,Y.,
            Alisch,R.S., 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 (bases 1 to 2296)
  AUTHORS   Appelman-Dijkstra,N., Van Lierop,A. and Papapoulos,S.
  TITLE     SOST-Related Sclerosing Bone Dysplasias
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36508511
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055813.9 and AF326739.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_025237.2.
            
            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 :: AF331844.1, AF326739.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301691.3/ ENSP00000301691.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC055813.9         66240-66242         c
            4-1958              AF326739.1         1-1955
            1959-2296           AF326739.1         1957-2294
FEATURES             Location/Qualifiers
     source          1..2296
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..2296
                     /gene="SOST"
                     /gene_synonym="CDD; DAND6; SOST1; VBCH"
                     /note="sclerostin"
                     /db_xref="GeneID:50964"
                     /db_xref="HGNC:HGNC:13771"
                     /db_xref="MIM:605740"
     exon            1..270
                     /gene="SOST"
                     /gene_synonym="CDD; DAND6; SOST1; VBCH"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..692
                     /gene="SOST"
                     /gene_synonym="CDD; DAND6; SOST1; VBCH"
                     /codon_start=1
                     /product="sclerostin precursor"
                     /protein_id="NP_079513.1"
                     /db_xref="CCDS:CCDS11468.1"
                     /db_xref="GeneID:50964"
                     /db_xref="HGNC:HGNC:13771"
                     /db_xref="MIM:605740"
                     /translation="MQLPLALCLVCLLVHTAFRVVEGQGWQAFKNDATEIIPELGEYP
                     EPPPELENNKTMNRAENGGRPPHHPFETKDVSEYSCRELHFTRYVTDGPCRSAKPVTE
                     LVCSGQCGPARLLPNAIGRGKWWRPSGPDFRCIPDRYRAQRVQLLCPGGEAPRARKVR
                     LVASCKCKRLTRFHNQSELKDFGTEAARPQKGRKPRPRARSAKANQAELENAY"
     exon            271..2296
                     /gene="SOST"
                     /gene_synonym="CDD; DAND6; SOST1; VBCH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2276..2281
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOST"
                     /gene_synonym="CDD; DAND6; SOST1; VBCH"
                     /note="hexamer: AATAAA"
     polyA_site      2296
                     /gene="SOST"
                     /gene_synonym="CDD; DAND6; SOST1; VBCH"
                     /note="major polyA site"
ORIGIN      
        1 accagagcct gtgctactgg aaggtggcgt gccctcctct ggctggtacc atgcagctcc
       61 cactggccct gtgtctcgtc tgcctgctgg tacacacagc cttccgtgta gtggagggcc
      121 aggggtggca ggcgttcaag aatgatgcca cggaaatcat ccccgagctc ggagagtacc
      181 ccgagcctcc accggagctg gagaacaaca agaccatgaa ccgggcggag aacggagggc
      241 ggcctcccca ccaccccttt gagaccaaag acgtgtccga gtacagctgc cgcgagctgc
      301 acttcacccg ctacgtgacc gatgggccgt gccgcagcgc caagccggtc accgagctgg
      361 tgtgctccgg ccagtgcggc ccggcgcgcc tgctgcccaa cgccatcggc cgcggcaagt
      421 ggtggcgacc tagtgggccc gacttccgct gcatccccga ccgctaccgc gcgcagcgcg
      481 tgcagctgct gtgtcccggt ggtgaggcgc cgcgcgcgcg caaggtgcgc ctggtggcct
      541 cgtgcaagtg caagcgcctc acccgcttcc acaaccagtc ggagctcaag gacttcggga
      601 ccgaggccgc tcggccgcag aagggccgga agccgcggcc ccgcgcccgg agcgccaaag
      661 ccaaccaggc cgagctggag aacgcctact agagcccgcc cgcgcccctc cccaccggcg
      721 ggcgccccgg ccctgaaccc gcgccccaca tttctgtcct ctgcgcgtgg tttgattgtt
      781 tatatttcat tgtaaatgcc tgcaacccag ggcagggggc tgagaccttc caggccctga
      841 ggaatcccgg gcgccggcaa ggcccccctc agcccgccag ctgaggggtc ccacggggca
      901 ggggagggaa ttgagagtca cagacactga gccacgcagc cccgcctctg gggccgccta
      961 cctttgctgg tcccacttca gaggaggcag aaatggaagc attttcaccg ccctggggtt
     1021 ttaagggagc ggtgtgggag tgggaaagtc cagggactgg ttaagaaagt tggataagat
     1081 tcccccttgc acctcgctgc ccatcagaaa gcctgaggcg tgcccagagc acaagactgg
     1141 gggcaactgt agatgtggtt tctagtcctg gctctgccac taacttgctg tgtaaccttg
     1201 aactacacaa ttctccttcg ggacctcaat ttccactttg taaaatgagg gtggaggtgg
     1261 gaataggatc tcgaggagac tattggcata tgattccaag gactccagtg ccttttgaat
     1321 gggcagaggt gagagagaga gagagaaaga gagagaatga atgcagttgc attgattcag
     1381 tgccaaggtc acttccagaa ttcagagttg tgatgctctc ttctgacagc caaagatgaa
     1441 aaacaaacag aaaaaaaaaa gtaaagagtc tatttatggc tgacatattt acggctgaca
     1501 aactcctgga agaagctatg ctgcttccca gcctggcttc cccggatgtt tggctacctc
     1561 cacccctcca tctcaaagaa ataacatcat ccattggggt agaaaaggag agggtccgag
     1621 ggtggtggga gggatagaaa tcacatccgc cccaacttcc caaagagcag catccctccc
     1681 ccgacccata gccatgtttt aaagtcacct tccgaagaga agtgaaaggt tcaaggacac
     1741 tggccttgca ggcccgaggg agcagccatc acaaactcac agaccagcac atcccttttg
     1801 agacaccgcc ttctgcccac cactcacgga cacatttctg cctagaaaac agcttcttac
     1861 tgctcttaca tgtgatggca tatcttacac taaaagaata ttattggggg aaaaactaca
     1921 agtgctgtac atatgctgag aaactgcaga gcataatact gccacccaaa aatctttttg
     1981 aaaatcattt ccagacaacc tcttactttc tgtgtagttt ttaattgtta aaaaaaaaaa
     2041 gttttaaaca gaagcacatg acatatgaaa gcctgcagga ctggtcgttt ttttggcaat
     2101 tcttccacgt gggacttgtc cacaagaatg aaagtagtgg tttttaaaga gttaagttac
     2161 atatttattt tctcacttaa gttatttatg caaaagtttt tcttgtagag aatgacaatg
     2221 ttaatattgc tttatgaatt aacagtctgt tcttccagag tccagagaca ttgttaataa
     2281 agacaatgaa tcatga
//
