LOCUS       NM_001202               1931 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens bone morphogenetic protein 4 (BMP4), transcript
            variant 1, mRNA.
ACCESSION   NM_001202
VERSION     NM_001202.6
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 1931)
  AUTHORS   Shen,S., Nan,W., Zhang,W., Wu,H. and Zhang,Y.
  TITLE     Bone morphogenetic protein 4 inhibits corneal neovascularization by
            blocking NETs-induced disruption to corneal epithelial barrier
  JOURNAL   Int Immunopharmacol 142 (Pt A), 113023 (2024)
   PUBMED   39217886
  REMARK    GeneRIF: Bone morphogenetic protein 4 inhibits corneal
            neovascularization by blocking NETs-induced disruption to corneal
            epithelial barrier.
REFERENCE   2  (bases 1 to 1931)
  AUTHORS   Perez-Shibayama,C., Gil-Cruz,C., Cadosch,N., Lutge,M., Cheng,H.W.,
            De Martin,A., Frischmann,K., Joachimbauer,A., Onder,L.,
            Papadopoulou,I., Papadopoulou,C., Ring,S., Krebs,P., Vu,V.P.,
            Nagele,M.P., Rossi,V.A., Parianos,D., Zsilavecz,V.W., Cooper,L.T.,
            Flammer,A., Ruschitzka,F., Rainer,P.P., Schmidt,D. and Ludewig,B.
  TITLE     Bone morphogenic protein-4 availability in the cardiac
            microenvironment controls inflammation and fibrosis in autoimmune
            myocarditis
  JOURNAL   Nat Cardiovasc Res 3 (3), 301-316 (2024)
   PUBMED   39196111
  REMARK    GeneRIF: Bone morphogenic protein-4 availability in the cardiac
            microenvironment controls inflammation and fibrosis in autoimmune
            myocarditis.
REFERENCE   3  (bases 1 to 1931)
  AUTHORS   Zhang,W., Hu,M., Yang,L., Zhou,Z., Chen,R. and Liu,Z.
  TITLE     Expression pattern of the bone morphogenetic protein-4 and its
            relationship with inflammation, vascular injury in patients
            suffered the arterial occlusive diseases
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 49 (2), 279-285 (2024)
   PUBMED   38755724
  REMARK    GeneRIF: Expression pattern of the bone morphogenetic protein-4 and
            its relationship with inflammation, vascular injury in patients
            suffered the arterial occlusive diseases.
REFERENCE   4  (bases 1 to 1931)
  AUTHORS   Bakrania,P., Efthymiou,M., Klein,J.C., Salt,A., Bunyan,D.J.,
            Wyatt,A., Ponting,C.P., Martin,A., Williams,S., Lindley,V.,
            Gilmore,J., Restori,M., Robson,A.G., Neveu,M.M., Holder,G.E.,
            Collin,J.R., Robinson,D.O., Farndon,P., Johansen-Berg,H.,
            Gerrelli,D. and Ragge,N.K.
  TITLE     Mutations in BMP4 cause eye, brain, and digit developmental
            anomalies: overlap between the BMP4 and hedgehog signaling pathways
  JOURNAL   Am J Hum Genet 82 (2), 304-319 (2008)
   PUBMED   18252212
  REMARK    GeneRIF: Mutations in BMP4 cause eye, brain, and digit
            developmental anomalies: overlap between the BMP4 and hedgehog
            signaling pathways.
REFERENCE   5  (bases 1 to 1931)
  AUTHORS   Van den Wijngaard,A., Pijpers,M.A., Joosten,P.H., Roelofs,J.M., Van
            zoelen,E.J. and Olijve,W.
  TITLE     Functional characterization of two promoters in the human bone
            morphogenetic protein-4 gene
  JOURNAL   J Bone Miner Res 14 (8), 1432-1441 (1999)
   PUBMED   10457277
REFERENCE   6  (bases 1 to 1931)
  AUTHORS   Shore,E.M., Xu,M., Shah,P.B., Janoff,H.B., Hahn,G.V.,
            Deardorff,M.A., Sovinsky,L., Spinner,N.B., Zasloff,M.A.,
            Wozney,J.M. and Kaplan,F.S.
  TITLE     The human bone morphogenetic protein 4 (BMP-4) gene: molecular
            structure and transcriptional regulation
  JOURNAL   Calcif Tissue Int 63 (3), 221-229 (1998)
   PUBMED   9701626
REFERENCE   7  (bases 1 to 1931)
  AUTHORS   van den Wijngaard,A., van Kraay,M., van Zoelen,E.J., Olijve,W. and
            Boersma,C.J.
  TITLE     Genomic organization of the human bone morphogenetic protein-4
            gene: molecular basis for multiple transcripts
  JOURNAL   Biochem Biophys Res Commun 219 (3), 789-794 (1996)
   PUBMED   8645259
REFERENCE   8  (bases 1 to 1931)
  AUTHORS   van den Wijngaard,A., Weghuis,D.O., Boersma,C.J., van Zoelen,E.J.,
            Geurts van Kessel,A. and Olijve,W.
  TITLE     Fine mapping of the human bone morphogenetic protein-4 gene (BMP4)
            to chromosome 14q22-q23 by in situ hybridization
  JOURNAL   Genomics 27 (3), 559-560 (1995)
   PUBMED   7558046
REFERENCE   9  (bases 1 to 1931)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (bases 1 to 1931)
  AUTHORS   Wozney,J.M., Rosen,V., Celeste,A.J., Mitsock,L.M., Whitters,M.J.,
            Kriz,R.W., Hewick,R.M. and Wang,E.A.
  TITLE     Novel regulators of bone formation: molecular clones and activities
  JOURNAL   Science 242 (4885), 1528-1534 (1988)
   PUBMED   3201241
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138479.4, M22490.1,
            BX161385.1 and BU683974.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001202.5.
            
            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 each subunit of the
            disulfide-linked homodimer. This protein regulates heart
            development and adipogenesis. Mutations in this gene are associated
            with orofacial cleft and microphthalmia in human patients. The
            encoded protein may also be involved in the pathology of multiple
            cardiovascular diseases and human cancers. [provided by RefSeq, Jul
            2016].
            
            Transcript Variant: This variant (1) uses the P1 promoter and
            encodes isoform a.
            
            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 :: M22490.1, SRR11853562.9870.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245451.9/ ENSP00000245451.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AL138479.4         81420-81433         c
            15-1765             M22490.1           1-1751
            1766-1926           BX161385.1         1545-1705
            1927-1931           BU683974.1         16-20               c
FEATURES             Location/Qualifiers
     source          1..1931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.2"
     gene            1..1931
                     /gene="BMP4"
                     /gene_synonym="BMP2B; BMP2B1; MCOPS6; OFC11; ZYME"
                     /note="bone morphogenetic protein 4"
                     /db_xref="GeneID:652"
                     /db_xref="HGNC:HGNC:1071"
                     /db_xref="MIM:112262"
     exon            1..276
                     /gene="BMP4"
                     /gene_synonym="BMP2B; BMP2B1; MCOPS6; OFC11; ZYME"
                     /inference="alignment:Splign:2.1.0"
     exon            277..401
                     /gene="BMP4"
                     /gene_synonym="BMP2B; BMP2B1; MCOPS6; OFC11; ZYME"
                     /inference="alignment:Splign:2.1.0"
     exon            402..778
                     /gene="BMP4"
                     /gene_synonym="BMP2B; BMP2B1; MCOPS6; OFC11; ZYME"
                     /inference="alignment:Splign:2.1.0"
     CDS             409..1635
                     /gene="BMP4"
                     /gene_synonym="BMP2B; BMP2B1; MCOPS6; OFC11; ZYME"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; bone morphogenetic protein 2B"
                     /codon_start=1
                     /product="bone morphogenetic protein 4 isoform a
                     preproprotein"
                     /protein_id="NP_001193.2"
                     /db_xref="CCDS:CCDS9715.1"
                     /db_xref="GeneID:652"
                     /db_xref="HGNC:HGNC:1071"
                     /db_xref="MIM:112262"
                     /translation="MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGG
                     RRSGQSHELLRDFEATLLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEQIHST
                     GLEYPERPASRANTVRSFHHEEHLENIPGTSENSAFRFLFNLSSIPENEVISSAELRL
                     FREQVDQGPDWERGFHRINIYEVMKPPAEVVPGHLITRLLDTRLVHHNVTRWETFDVS
                     PAVLRWTREKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFG
                     HDGRGHALTRRRRAKRSPKHHSQRARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQA
                     FYCHGDCPFPLADHLNSTNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKV
                     VLKNYQEMVVEGCGCR"
     exon            779..1931
                     /gene="BMP4"
                     /gene_synonym="BMP2B; BMP2B1; MCOPS6; OFC11; ZYME"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1902..1907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BMP4"
                     /gene_synonym="BMP2B; BMP2B1; MCOPS6; OFC11; ZYME"
                     /note="hexamer: AATAAA"
     polyA_site      1931
                     /gene="BMP4"
                     /gene_synonym="BMP2B; BMP2B1; MCOPS6; OFC11; ZYME"
                     /note="major polyA site"
ORIGIN      
        1 ggaagatgcg agaaggcaga ggaggaggga gggagggaag gagcgcggag cccggcccgg
       61 aagctaggtg agtgtggcat ccgagctgag ggacgcgagc ctgagacgcc gctgctgctc
      121 cggctgagta tctagcttgt ctccccgatg ggattcccgt ccaagctatc tcgagcctgc
      181 agcgccacag tccccggccc tcgcccaggt tcactgcaac cgttcagagg tccccaggag
      241 ctgctgctgg cgagcccgct actgcaggga cctatggagc cattccgtag tgccatcccg
      301 agcaacgcac tgctgcagct tccctgagcc tttccagcaa gtttgttcaa gattggctgt
      361 caagaatcat ggactgttat tatatgcctt gttttctgtc aagacaccat gattcctggt
      421 aaccgaatgc tgatggtcgt tttattatgc caagtcctgc taggaggcgc gagccatgct
      481 agtttgatac ctgagacggg gaagaaaaaa gtcgccgaga ttcagggcca cgcgggagga
      541 cgccgctcag ggcagagcca tgagctcctg cgggacttcg aggcgacact tctgcagatg
      601 tttgggctgc gccgccgccc gcagcctagc aagagtgccg tcattccgga ctacatgcgg
      661 gatctttacc ggcttcagtc tggggaggag gaggaagagc agatccacag cactggtctt
      721 gagtatcctg agcgcccggc cagccgggcc aacaccgtga ggagcttcca ccacgaagaa
      781 catctggaga acatcccagg gaccagtgaa aactctgctt ttcgtttcct ctttaacctc
      841 agcagcatcc ctgagaacga ggtgatctcc tctgcagagc ttcggctctt ccgggagcag
      901 gtggaccagg gccctgattg ggaaaggggc ttccaccgta taaacattta tgaggttatg
      961 aagcccccag cagaagtggt gcctgggcac ctcatcacac gactactgga cacgagactg
     1021 gtccaccaca atgtgacacg gtgggaaact tttgatgtga gccctgcggt ccttcgctgg
     1081 acccgggaga agcagccaaa ctatgggcta gccattgagg tgactcacct ccatcagact
     1141 cggacccacc agggccagca tgtcaggatt agccgatcgt tacctcaagg gagtgggaat
     1201 tgggcccagc tccggcccct cctggtcacc tttggccatg atggccgggg ccatgccttg
     1261 acccgacgcc ggagggccaa gcgtagccct aagcatcact cacagcgggc caggaagaag
     1321 aataagaact gccggcgcca ctcgctctat gtggacttca gcgatgtggg ctggaatgac
     1381 tggattgtgg ccccaccagg ctaccaggcc ttctactgcc atggggactg cccctttcca
     1441 ctggctgacc acctcaactc aaccaaccat gccattgtgc agaccctggt caattctgtc
     1501 aattccagta tccccaaagc ctgttgtgtg cccactgaac tgagtgccat ctccatgctg
     1561 tacctggatg agtatgataa ggtggtactg aaaaattatc aggagatggt agtagaggga
     1621 tgtgggtgcc gctgagatca ggcagtcctt gaggatagac agatatacac accacacaca
     1681 cacaccacat acaccacaca cacacgttcc catccactca cccacacact acacagactg
     1741 cttccttata gctggacttt tatttaaaaa aaaaaaaaaa aaaggaaaaa atccctaaac
     1801 attcaccttg accttattta tgactttacg tgcaaatgtt ttgaccatat tgatcatata
     1861 ttttgacaaa atatatttat aactacgtat taaaagaaaa aaataaaatg agtcattatt
     1921 ttaaaggtaa a
//
