LOCUS       NM_016204               3309 bp    mRNA    linear   PRI 04-MAR-2025
DEFINITION  Homo sapiens growth differentiation factor 2 (GDF2), mRNA.
ACCESSION   NM_016204
VERSION     NM_016204.4
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 3309)
  AUTHORS   Chen,L., Wang,R., Lv,X., Kan,M., Zhang,H., Qiu,W., Chen,S.,
            Zhao,J., Wen,X., Meng,X., Wang,H. and Zang,H.
  TITLE     Hepatic-derived BMP9 is involved in hepatic fibrosis-induced kidney
            injury through inhibition of renal VEGFA
  JOURNAL   Biochem Pharmacol 226, 116371 (2024)
   PUBMED   38885771
  REMARK    GeneRIF: Hepatic-derived BMP9 is involved in hepatic
            fibrosis-induced kidney injury through inhibition of renal VEGFA.
REFERENCE   2  (bases 1 to 3309)
  AUTHORS   Lotsios,N.S., Keskinidou,C., Dimopoulou,I., Kotanidou,A.,
            Langleben,D., Orfanos,S.E. and Vassiliou,A.G.
  TITLE     Effects of Modulating BMP9, BMPR2, and AQP1 on BMP Signaling in
            Human Pulmonary Microvascular Endothelial Cells
  JOURNAL   Int J Mol Sci 25 (15), 8043 (2024)
   PUBMED   39125626
  REMARK    GeneRIF: Effects of Modulating BMP9, BMPR2, and AQP1 on BMP
            Signaling in Human Pulmonary Microvascular Endothelial Cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3309)
  AUTHORS   Mirza,S.L., Upton,P.D., Hodgson,J., Graf,S., Morrell,N.W. and
            Dunmore,B.J.
  TITLE     SEMA3G regulates BMP9 inhibition of VEGF-mediated migration and
            network formation in pulmonary endothelial cells
  JOURNAL   Vascul Pharmacol 155, 107381 (2024)
   PUBMED   38795838
  REMARK    GeneRIF: SEMA3G regulates BMP9 inhibition of VEGF-mediated
            migration and network formation in pulmonary endothelial cells.
REFERENCE   4  (bases 1 to 3309)
  AUTHORS   Grynblat,J., Bogaard,H.J., Eyries,M., Meyrignac,O., Savale,L.,
            Jais,X., Ghigna,M.R., Celant,L., Meijboom,L., Houweling,A.C.,
            Levy,M., Antigny,F., Chaouat,A., Cottin,V., Guignabert,C.,
            Coulet,F., Sitbon,O., Bonnet,D., Humbert,M. and Montani,D.
  CONSRTM   and the French PH Network PULMOTENSION Investigators
  TITLE     Pulmonary vascular phenotype identified in patients with GDF2
            (BMP9) or BMP10 variants: an international multicentre study
  JOURNAL   Eur Respir J 63 (4), 2301634 (2024)
   PUBMED   38514094
  REMARK    GeneRIF: Pulmonary vascular phenotype identified in patients with
            GDF2 (BMP9) or BMP10 variants: an international multicentre study.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3309)
  AUTHORS   Bidart,M., Ricard,N., Levet,S., Samson,M., Mallet,C., David,L.,
            Subileau,M., Tillet,E., Feige,J.J. and Bailly,S.
  TITLE     BMP9 is produced by hepatocytes and circulates mainly in an active
            mature form complexed to its prodomain
  JOURNAL   Cell Mol Life Sci 69 (2), 313-324 (2012)
   PUBMED   21710321
  REMARK    GeneRIF: BMP9 was produced by human hepatocytes and intrahepatic
            biliary epithelial cells.BMP9 circulates in plasma as an
            unprocessed inactive form that can be further activated by furin a
            serine endoprotease, and as a mature and fully active form
            Erratum:[Cell Mol Life Sci. 2012 Feb;69(3):485]
REFERENCE   6  (bases 1 to 3309)
  AUTHORS   Majumdar,M.K., Wang,E. and Morris,E.A.
  TITLE     BMP-2 and BMP-9 promotes chondrogenic differentiation of human
            multipotential mesenchymal cells and overcomes the inhibitory
            effect of IL-1
  JOURNAL   J Cell Physiol 189 (3), 275-284 (2001)
   PUBMED   11748585
  REMARK    GeneRIF: promotes chondrogenic differentiation of multipotential
            mesenchymal cells
REFERENCE   7  (bases 1 to 3309)
  AUTHORS   Lopez-Coviella,I., Berse,B., Krauss,R., Thies,R.S. and
            Blusztajn,J.K.
  TITLE     Induction and maintenance of the neuronal cholinergic phenotype in
            the central nervous system by BMP-9
  JOURNAL   Science 289 (5477), 313-316 (2000)
   PUBMED   10894782
REFERENCE   8  (bases 1 to 3309)
  AUTHORS   Miller,A.F., Harvey,S.A., Thies,R.S. and Olson,M.S.
  TITLE     Bone morphogenetic protein-9. An autocrine/paracrine cytokine in
            the liver
  JOURNAL   J Biol Chem 275 (24), 17937-17945 (2000)
   PUBMED   10849432
REFERENCE   9  (bases 1 to 3309)
  AUTHORS   Song,J.J., Celeste,A.J., Kong,F.M., Jirtle,R.L., Rosen,V. and
            Thies,R.S.
  TITLE     Bone morphogenetic protein-9 binds to liver cells and stimulates
            proliferation
  JOURNAL   Endocrinology 136 (10), 4293-4297 (1995)
   PUBMED   7664647
REFERENCE   10 (bases 1 to 3309)
  AUTHORS   McDonald,J. and Stevenson,D.A.
  TITLE     Hereditary Hemorrhagic Telangiectasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301525
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL731561.12, AK314956.1 and
            AF188285.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_016204.3.
            
            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 cartilage and
            bone development, angiogenesis and differentiation of cholinergic
            central nervous system neurons. Mutations in this gene are
            associated with hereditary hemorrhagic telangiectasia. [provided by
            RefSeq, Jul 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803612.149726.1, AF188285.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000581492.3/ ENSP00000463051.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                AL731561.12        139466-139501       c
            37-756              AK314956.1         1-720
            757-1991            AF188285.1         705-1939
            1992-3309           AL731561.12        134367-135684       c
FEATURES             Location/Qualifiers
     source          1..3309
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     gene            1..3309
                     /gene="GDF2"
                     /gene_synonym="BMP-9; BMP9; HHT5"
                     /note="growth differentiation factor 2"
                     /db_xref="GeneID:2658"
                     /db_xref="HGNC:HGNC:4217"
                     /db_xref="MIM:605120"
     exon            1..561
                     /gene="GDF2"
                     /gene_synonym="BMP-9; BMP9; HHT5"
                     /inference="alignment:Splign:2.1.0"
     CDS             216..1505
                     /gene="GDF2"
                     /gene_synonym="BMP-9; BMP9; HHT5"
                     /note="bone morphogenetic protein 9"
                     /codon_start=1
                     /product="growth/differentiation factor 2 preproprotein"
                     /protein_id="NP_057288.1"
                     /db_xref="CCDS:CCDS73118.1"
                     /db_xref="GeneID:2658"
                     /db_xref="HGNC:HGNC:4217"
                     /db_xref="MIM:605120"
                     /translation="MCPGALWVALPLLSLLAGSLQGKPLQSWGRGSAGGNAHSPLGVP
                     GGGLPEHTFNLKMFLENVKVDFLRSLNLSGVPSQDKTRVEPPQYMIDLYNRYTSDKST
                     TPASNIVRSFSMEDAISITATEDFPFQKHILLFNISIPRHEQITRAELRLYVSCQNHV
                     DPSHDLKGSVVIYDVLDGTDAWDSATETKTFLVSQDIQDEGWETLEVSSAVKRWVRSD
                     STKSKNKLEVTVESHRKGCDTLDISVPPGSRNLPFFVVFSNDHSSGTKETRLELREMI
                     SHEQESVLKKLSKDGSTEAGESSHEEDTDGHVAAGSTLARRKRSAGAGSHCQKTSLRV
                     NFEDIGWDSWIIAPKEYEAYECKGGCFFPLADDVTPTKHAIVQTLVHLKFPTKVGKAC
                     CVPTKLSPISVLYKDDMGVPTLKYHYEGMSVAECGCR"
     exon            562..3309
                     /gene="GDF2"
                     /gene_synonym="BMP-9; BMP9; HHT5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3291..3296
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDF2"
                     /gene_synonym="BMP-9; BMP9; HHT5"
                     /note="hexamer: AATAAA"
     polyA_site      3309
                     /gene="GDF2"
                     /gene_synonym="BMP-9; BMP9; HHT5"
                     /note="major polyA site"
ORIGIN      
        1 agataagacg tcggagcgcg gcatcgagga ccagataagc acaagtggag gacaatccag
       61 cccggcagcg ggtgagagtg ggtgctggcc aggacggttc cttcagagca aacagcaggg
      121 agatgccggc ccgctccttc ccagctcctc cccgtgcccg ctaacacagc acggccgcct
      181 gcagtctcct ctctgggtga ttgcgcgggc ctaagatgtg tcctggggca ctgtgggtgg
      241 ccctgcccct gctgtccctg ctggctggct ccctacaggg gaagccactg cagagctggg
      301 gacgagggtc tgctggggga aacgcccaca gcccactggg ggtgcctgga ggtgggctgc
      361 ctgagcacac cttcaacctg aagatgtttc tggagaacgt gaaggtggat ttcctgcgca
      421 gccttaacct gagtggggtc ccttcgcagg acaaaaccag ggtggagccg ccgcagtaca
      481 tgattgacct gtacaacagg tacacgtccg ataagtcgac tacgccagcg tccaacattg
      541 tgcggagctt cagcatggaa gatgccatct ccataactgc cacagaggac ttccccttcc
      601 agaagcacat cttgctcttc aacatctcca ttcctaggca tgagcagatc accagagctg
      661 agctccgact ctatgtctcc tgtcaaaatc acgtggaccc ctctcatgac ctgaaaggaa
      721 gcgtggtcat ttatgatgtt ctggatggaa cagatgcctg ggatagtgct acagagacca
      781 agaccttcct ggtgtcccag gacattcagg atgagggctg ggagaccttg gaagtgtcca
      841 gcgccgtgaa gcgctgggtc cggtccgact ccaccaagag caaaaataag ctggaagtga
      901 ctgtggagag ccacaggaag ggctgcgaca cgctggacat cagtgtcccc ccaggttcca
      961 gaaacctgcc cttctttgtt gtcttctcca atgaccacag cagtgggacc aaggagacca
     1021 ggctggagct gagggagatg atcagccatg aacaagagag cgtgctcaag aagctgtcca
     1081 aggacggctc cacagaggca ggtgagagca gtcacgagga ggacacggat ggccacgtgg
     1141 ctgcggggtc gactttagcc aggcggaaaa ggagcgccgg ggctggcagc cactgtcaaa
     1201 agacctccct gcgggtaaac ttcgaggaca tcggctggga cagctggatc attgcaccca
     1261 aggagtatga agcctacgag tgtaagggcg gctgcttctt ccccttggct gacgatgtga
     1321 cgccgacgaa acacgctatc gtgcagaccc tggtgcatct caagttcccc acaaaggtgg
     1381 gcaaggcctg ctgtgtgccc accaaactga gccccatctc cgtcctctac aaggatgaca
     1441 tgggggtgcc caccctcaag taccattacg agggcatgag cgtggcagag tgtgggtgca
     1501 ggtagtatct gcctgcgggg ctggggaggc aggccaaagg ggctccacat gagaggtcct
     1561 gcatgcccct gggcacaaca aggactgatt caatctgcat gccagcctgg aggaggaaag
     1621 ggagcctgct ctccctcccc acaccccacc caaagcatac accgctgagc tcaactgcca
     1681 gggaaggcta aggaaatggg gatttgagca caacaggaaa gcctgggagg gttgttggga
     1741 tgcaaggagg tgatgaaaag gagacagggg gaaaaataat ccatagtcag cagaaaacaa
     1801 cagcagtgag ccagaggagc acaggcgggc aggtcactgc agagactgat ggaagttaga
     1861 gaggtggagg aggccagctc gctccaaaac ccttggggag tagagggaag gagcaggccg
     1921 cgtgtcacac ccatcattgt atgttatttc ccacaaccca gttggagggg catggcttcc
     1981 aatttagaga cataaaacac aggcagatca agtagcattg atcaatggca tgattccaac
     2041 tcagatttgt gggacaccaa agcccaggat cttcccaagt gccctgctgc agtttagcag
     2101 gtcctctcca gctaaagagc agtgagacat tgggagccca ggagtgttga ggccaggcca
     2161 ggctgaggcc catcagtcac aggtgtgact gggctgcttg tcacacacag ggcgtggtct
     2221 ggccactgtt gccagtgctc actcagcggc cacatgcttt ttaatatgac ccctgaggca
     2281 ctgaaaaata accccaggcc aactgcagga tagagagaga ggtcaggaca gcagccctgt
     2341 gggctgcatg atacactgtg gctggagtta ttgtgacccc ctggtgcagt gctcccacgg
     2401 ccagtggtgc acacagggcc attcactgtc catagactga aaccatgtga ccatttgaga
     2461 gggccgggca cactttcccc tgagggatgg ggcagcctgt ggccagcacc tctgcagtta
     2521 ctctgcatag ccagctcacc agcatgccat gcccagggtg ccccccagtg acaacctcat
     2581 gggagacggg cctggatttg aatttgttgg aattaaatgt gctctggctt tggtctttga
     2641 aacatatcta tttttattcc ttggtgacat gtccttaagt gacaagactc cagccttcct
     2701 gggcgaggcc tctccagcct cggaagagct gcagtcctta tcggctatca ctggctctgc
     2761 ctgcatttgc cggctctctt gagtcacgtg catcccagca ccccgcctgg gctcggactg
     2821 tgggaccaga ctcagcctcc ccgaacacaa gggaagataa ggcttccatt tgctctgtgt
     2881 ttcaccctct cctctgtctc tccaggccac acatggaacg gggcggtatg aggaagagtc
     2941 tgaaagtggt gaagagtgca cctatggccc tctgacctcc agccagagca gggcctaggg
     3001 gaggcttaga gaggccaggg cctctccccg tggttgaagc tcccatttat ttaagaaaaa
     3061 gtggggggtg gggaaaacgt tatgttaaat gtttacatgg aaccaatgaa caactttaac
     3121 acacaaatac aacgaaacat tcttgtttaa ttactggcgt tatagaaaat atgaattcct
     3181 gctacatgcc gggcagtgta gtgttacaat gctattccaa gttgggtgtt gagcatcttc
     3241 tttcagtcct ggtggtgtgc ttctgtgcct gcttgaaaat ttcactcgga aataaagtca
     3301 aatgtctaa
//
