LOCUS       NM_005448               1262 bp    mRNA    linear   PRI 03-JUN-2024
DEFINITION  Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.
ACCESSION   NM_005448
VERSION     NM_005448.2
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 1262)
  AUTHORS   Riepsamen,A.H., Donoghoe,M.W., Indran,I.R., Hechtman,L.,
            Robertson,D.M., Gilchrist,R.B., Ledger,W.L. and Yong,E.L.
  TITLE     Serum GDF9 and BMP15 as potential markers of ovarian function in
            women with and without polycystic ovary syndrome
  JOURNAL   Clin Endocrinol (Oxf) 98 (4), 567-577 (2023)
   PUBMED   36372988
  REMARK    GeneRIF: Serum GDF9 and BMP15 as potential markers of ovarian
            function in women with and without polycystic ovary syndrome.
REFERENCE   2  (bases 1 to 1262)
  AUTHORS   Huang,T.H., Chen,F.R., Zhang,Y.N., Chen,S.Q., Long,F.Y., Wei,J.J.,
            Zhang,K., Zeng,J.Z., Zhu,Q.Y., Li-Ling,J. and Gong,Y.
  TITLE     Decreased GDF9 and BMP15 in follicle fluid and granulosa cells and
            outcomes of IVF-ET among young patients with low prognosis
  JOURNAL   J Assist Reprod Genet 40 (3), 567-576 (2023)
   PUBMED   36689045
  REMARK    GeneRIF: Decreased GDF9 and BMP15 in follicle fluid and granulosa
            cells and outcomes of IVF-ET among young patients with low
            prognosis.
REFERENCE   3  (bases 1 to 1262)
  AUTHORS   Zhang,T., Ma,Q., Shen,Q., Jiang,C., Zou,F., Shen,Y. and Wang,Y.
  TITLE     Identification of novel biallelic variants in BMP15 in two siblings
            with premature ovarian insufficiency
  JOURNAL   J Assist Reprod Genet 39 (9), 2125-2134 (2022)
   PUBMED   35861920
  REMARK    GeneRIF: Identification of novel biallelic variants in BMP15 in two
            siblings with premature ovarian insufficiency.
REFERENCE   4  (bases 1 to 1262)
  AUTHORS   Afkhami,F., Shahbazi,S., Farzadi,L. and Danaei,S.
  TITLE     Novel bone morphogenetic protein 15 (BMP15) gene variants
            implicated in premature ovarian insufficiency
  JOURNAL   Reprod Biol Endocrinol 20 (1), 42 (2022)
   PUBMED   35232444
  REMARK    GeneRIF: Novel bone morphogenetic protein 15 (BMP15) gene variants
            implicated in premature ovarian insufficiency.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1262)
  AUTHORS   Ferrarini,E., De Marco,G., Orsolini,F., Gianetti,E., Benelli,E.,
            Fruzzetti,F., Simoncini,T., Agretti,P. and Tonacchera,M.
  TITLE     Characterization of a novel mutation V136L in bone morphogenetic
            protein 15 identified in a woman affected by POI
  JOURNAL   J Ovarian Res 14 (1), 85 (2021)
   PUBMED   34187539
  REMARK    GeneRIF: Characterization of a novel mutation V136L in bone
            morphogenetic protein 15 identified in a woman affected by POI.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1262)
  AUTHORS   Otsuka,F., Moore,R.K., Iemura,S., Ueno,N. and Shimasaki,S.
  TITLE     Follistatin inhibits the function of the oocyte-derived factor
            BMP-15
  JOURNAL   Biochem Biophys Res Commun 289 (5), 961-966 (2001)
   PUBMED   11741284
REFERENCE   7  (bases 1 to 1262)
  AUTHORS   Otsuka,F., Yao,Z., Lee,T., Yamamoto,S., Erickson,G.F. and
            Shimasaki,S.
  TITLE     Bone morphogenetic protein-15. Identification of target cells and
            biological functions
  JOURNAL   J Biol Chem 275 (50), 39523-39528 (2000)
   PUBMED   10998422
REFERENCE   8  (bases 1 to 1262)
  AUTHORS   Galloway,S.M., McNatty,K.P., Cambridge,L.M., Laitinen,M.P.,
            Juengel,J.L., Jokiranta,T.S., McLaren,R.J., Luiro,K., Dodds,K.G.,
            Montgomery,G.W., Beattie,A.E., Davis,G.H. and Ritvos,O.
  TITLE     Mutations in an oocyte-derived growth factor gene (BMP15) cause
            increased ovulation rate and infertility in a dosage-sensitive
            manner
  JOURNAL   Nat Genet 25 (3), 279-283 (2000)
   PUBMED   10888873
REFERENCE   9  (bases 1 to 1262)
  AUTHORS   Aaltonen,J., Laitinen,M.P., Vuojolainen,K., Jaatinen,R.,
            Horelli-Kuitunen,N., Seppa,L., Louhio,H., Tuuri,T., Sjoberg,J.,
            Butzow,R., Hovata,O., Dale,L. and Ritvos,O.
  TITLE     Human growth differentiation factor 9 (GDF-9) and its novel homolog
            GDF-9B are expressed in oocytes during early folliculogenesis
  JOURNAL   J Clin Endocrinol Metab 84 (8), 2744-2750 (1999)
   PUBMED   10443672
REFERENCE   10 (bases 1 to 1262)
  AUTHORS   Dube,J.L., Wang,P., Elvin,J., Lyons,K.M., Celeste,A.J. and
            Matzuk,M.M.
  TITLE     The bone morphogenetic protein 15 gene is X-linked and expressed in
            oocytes
  JOURNAL   Mol Endocrinol 12 (12), 1809-1817 (1998)
   PUBMED   9849956
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC117264.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 10, 2009 this sequence version replaced NM_005448.1.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate subunits of a
            disulfide-linked homodimer, or alternatively, a heterodimer, with
            the related protein, growth differentiation factor 9 (GDF9). This
            protein plays a role in oocyte maturation and follicular
            development, through activation of granulosa cells. Defects in this
            gene are the cause of ovarian dysgenesis and are associated with
            premature ovarian failure. [provided by RefSeq, Aug 2016].
            
            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 :: BC117264.1, BC069155.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252677.4/ ENSP00000252677.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1262              BC117264.1         1-1262
FEATURES             Location/Qualifiers
     source          1..1262
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..1262
                     /gene="BMP15"
                     /gene_synonym="GDF9B; ODG2; POF4"
                     /note="bone morphogenetic protein 15"
                     /db_xref="GeneID:9210"
                     /db_xref="HGNC:HGNC:1068"
                     /db_xref="MIM:300247"
     exon            1..377
                     /gene="BMP15"
                     /gene_synonym="GDF9B; ODG2; POF4"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..1228
                     /gene="BMP15"
                     /gene_synonym="GDF9B; ODG2; POF4"
                     /note="growth/differentiation factor 9B"
                     /codon_start=1
                     /product="bone morphogenetic protein 15 preproprotein"
                     /protein_id="NP_005439.2"
                     /db_xref="CCDS:CCDS14334.1"
                     /db_xref="GeneID:9210"
                     /db_xref="HGNC:HGNC:1068"
                     /db_xref="MIM:300247"
                     /translation="MVLLSILRILFLCELVLFMEHRAQMAEGGQSSIALLAEAPTLPL
                     IEELLEESPGEQPRKPRLLGHSLRYMLELYRRSADSHGHPRENRTIGATMVRLVKPLT
                     NVARPHRGTWHIQILGFPLRPNRGLYQLVRATVVYRHHLQLTRFNLSCHVEPWVQKNP
                     TNHFPSSEGDSSKPSLMSNAWKEMDITQLVQQRFWNNKGHRILRLRFMCQQQKDSGGL
                     ELWHGTSSLDIAFLLLYFNDTHKSIRKAKFLPRGMEEFMERESLLRRTRQADGISAEV
                     TASSSKHSGPENNQCSLHPFQISFRQLGWDHWIIAPPFYTPNYCKGTCLRVLRDGLNS
                     PNHAIIQNLINQLVDQSVPRPSCVPYKYVPISVLMIEANGSILYKEYEGMIAESCTCR
                     "
     exon            378..1262
                     /gene="BMP15"
                     /gene_synonym="GDF9B; ODG2; POF4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 tcccttgggc ttgtgttggg gcctgttgtt gaacactaag cctttcaaga tggtcctcct
       61 cagtattctt agaattcttt ttctttgtga actcgtgctt ttcatggaac acagggccca
      121 aatggcagaa ggagggcagt cctctattgc ccttctggct gaggccccta ctttgcccct
      181 gattgaggag ctgctagaag aatcccctgg cgaacagcca aggaagcccc ggctcctagg
      241 gcattcactg cggtacatgc tggagttgta ccggcgttca gctgactcgc atgggcaccc
      301 tagagagaac cgcaccattg gggccaccat ggtgaggctg gtgaagccct tgaccaatgt
      361 ggcaaggcct cacagaggta cctggcatat acagatcctg ggctttcctc tcagaccaaa
      421 ccgaggacta taccaactag ttagagccac tgtggtttac cgccatcatc tccaactaac
      481 tcgcttcaat ctctcctgcc atgtggagcc ctgggtgcag aaaaacccaa ccaaccactt
      541 cccttcctca gaaggagatt cctcaaaacc ttccctgatg tctaacgctt ggaaagagat
      601 ggatatcaca caacttgttc agcaaaggtt ctggaataac aagggacaca ggatcctacg
      661 actccgtttt atgtgtcagc agcaaaaaga tagtggtggt cttgagctct ggcatggcac
      721 ttcatccttg gacattgcct tcttgttact ctatttcaat gatactcata aaagcattcg
      781 gaaggctaaa tttcttccca ggggcatgga ggagttcatg gaaagggaat ctcttctccg
      841 gagaacccga caagcagatg gtatctcagc tgaggttact gcctcttcct caaaacatag
      901 cgggcctgaa aataaccagt gttccctcca ccctttccaa atcagcttcc gccagctggg
      961 ttgggatcac tggatcattg ctcccccttt ctacacccca aactactgta aaggaacttg
     1021 tctccgagta ctacgcgatg gtctcaattc ccccaatcac gccattattc agaaccttat
     1081 caatcagttg gtggaccaga gtgtcccccg gccctcctgt gtcccgtata agtatgttcc
     1141 aattagtgtc cttatgattg aggcaaatgg gagtattttg tacaaggagt atgagggtat
     1201 gattgctgag tcttgtacat gcagatgaca gcaacagtac ggctagatca ggtttcccag
     1261 ga
//
