LOCUS       NM_000557               2368 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens growth differentiation factor 5 (GDF5), transcript
            variant 2, mRNA.
ACCESSION   NM_000557
VERSION     NM_000557.5
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 2368)
  AUTHORS   Wang,Y.P., Di,W.J., Yang,S., Qin,S.L., Xu,Y.F., Han,P.F. and
            Hou,K.D.
  TITLE     The association of growth differentiation factor 5 rs143383 gene
            polymorphism with osteoarthritis: a systematic review and
            meta-analysis
  JOURNAL   J Orthop Surg Res 18 (1), 763 (2023)
   PUBMED   37817264
  REMARK    GeneRIF: The association of growth differentiation factor 5
            rs143383 gene polymorphism with osteoarthritis: a systematic review
            and meta-analysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2368)
  AUTHORS   Flore,L., Francalacci,P., Massidda,M., Robledo,R. and Calo,C.M.
  TITLE     Influence of Different Evolutive Forces on GDF5 Gene Variability
  JOURNAL   Genes (Basel) 14 (10), 1895 (2023)
   PUBMED   37895244
  REMARK    GeneRIF: Influence of Different Evolutive Forces on GDF5 Gene
            Variability.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2368)
  AUTHORS   He,W. and Lin,X.
  TITLE     LINC00313 promotes the proliferation and inhibits the apoptosis of
            chondrocytes via regulating miR-525-5p/GDF5 axis
  JOURNAL   J Orthop Surg Res 18 (1), 137 (2023)
   PUBMED   36823651
  REMARK    GeneRIF: LINC00313 promotes the proliferation and inhibits the
            apoptosis of chondrocytes via regulating miR-525-5p/GDF5 axis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2368)
  AUTHORS   Takahata,Y., Hagino,H., Kimura,A., Urushizaki,M., Yamamoto,S.,
            Wakamori,K., Murakami,T., Hata,K. and Nishimura,R.
  TITLE     Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular
            Cartilage and Functions in Osteoarthritis
  JOURNAL   Int J Mol Sci 23 (9), 4672 (2022)
   PUBMED   35563063
  REMARK    GeneRIF: Regulatory Mechanisms of Prg4 and Gdf5 Expression in
            Articular Cartilage and Functions in Osteoarthritis.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2368)
  AUTHORS   Jin,L. and Li,X.
  TITLE     Growth differentiation factor 5 regulation in bone regeneration
  JOURNAL   Curr Pharm Des 19 (19), 3364-3373 (2013)
   PUBMED   23432680
  REMARK    Review article
REFERENCE   6  (bases 1 to 2368)
  AUTHORS   Nishitoh,H., Ichijo,H., Kimura,M., Matsumoto,T., Makishima,F.,
            Yamaguchi,A., Yamashita,H., Enomoto,S. and Miyazono,K.
  TITLE     Identification of type I and type II serine/threonine kinase
            receptors for growth/differentiation factor-5
  JOURNAL   J Biol Chem 271 (35), 21345-21352 (1996)
   PUBMED   8702914
REFERENCE   7  (bases 1 to 2368)
  AUTHORS   Lin,K., Thomas,J.T., McBride,O.W. and Luyten,F.P.
  TITLE     Assignment of a new TGF-beta superfamily member, human
            cartilage-derived morphogenetic protein-1, to chromosome 20q11.2
  JOURNAL   Genomics 34 (1), 150-151 (1996)
   PUBMED   8661040
REFERENCE   8  (bases 1 to 2368)
  AUTHORS   Thomas,J.T., Lin,K., Nandedkar,M., Camargo,M., Cervenka,J. and
            Luyten,F.P.
  TITLE     A human chondrodysplasia due to a mutation in a TGF-beta
            superfamily member
  JOURNAL   Nat Genet 12 (3), 315-317 (1996)
   PUBMED   8589725
REFERENCE   9  (bases 1 to 2368)
  AUTHORS   Chang,S.C., Hoang,B., Thomas,J.T., Vukicevic,S., Luyten,F.P.,
            Ryba,N.J., Kozak,C.A., Reddi,A.H. and Moos,M. Jr.
  TITLE     Cartilage-derived morphogenetic proteins. New members of the
            transforming growth factor-beta superfamily predominantly expressed
            in long bones during human embryonic development
  JOURNAL   J Biol Chem 269 (45), 28227-28234 (1994)
   PUBMED   7961761
REFERENCE   10 (bases 1 to 2368)
  AUTHORS   Hotten,G., Neidhardt,H., Jacobowsky,B. and Pohl,J.
  TITLE     Cloning and expression of recombinant human growth/differentiation
            factor 5
  JOURNAL   Biochem Biophys Res Commun 204 (2), 646-652 (1994)
   PUBMED   7980526
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from FO393401.1, U13660.1,
            AB593125.1 and BU625224.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000557.4.
            
            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 the development
            of numerous tissue and cell types, including cartilage, joints,
            brown fat, teeth, and the growth of neuronal axons and dendrites.
            Mutations in this gene are associated with acromesomelic dysplasia,
            brachydactyly, chondrodysplasia, multiple synostoses syndrome,
            proximal symphalangism, and susceptibility to osteoarthritis.
            [provided by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            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 :: U13660.1, AB593125.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374369.8/ ENSP00000363489.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                FO393401.1         28691-28728         c
            39-52               U13660.1           1-14
            53-1316             AB593125.1         3-1266
            1317-1317           FO393401.1         24898-24898         c
            1318-2220           AB593125.1         1268-2170
            2221-2368           BU625224.1         15-162              c
FEATURES             Location/Qualifiers
     source          1..2368
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..2368
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="growth differentiation factor 5"
                     /db_xref="GeneID:8200"
                     /db_xref="HGNC:HGNC:4220"
                     /db_xref="MIM:601146"
     exon            1..931
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             301..1806
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="cartilage-derived morphogenetic protein-1;
                     radotermin; LPS-associated protein 4; bone morphogenetic
                     protein 14; lipopolysaccharide-associated protein 4"
                     /codon_start=1
                     /product="growth/differentiation factor 5 preproprotein"
                     /protein_id="NP_000548.2"
                     /db_xref="CCDS:CCDS13254.1"
                     /db_xref="GeneID:8200"
                     /db_xref="HGNC:HGNC:4220"
                     /db_xref="MIM:601146"
                     /translation="MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAK
                     AEAKERPPLARNVFRPGGHSYGGGATNANARAKGGTGQTGGLTQPKKDEPKKLPPRPG
                     GPEPKPGHPPQTRQATARTVTPKGQLPGGKAPPKAGSVPSSFLLKKAREPGPPREPKE
                     PFRPPPITPHEYMLSLYRTLSDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVR
                     KQRYVFDISALEKDGLLGAELRILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPAA
                     LLDVRSVPGLDGSGWEVFDIWKLFRNFKNSAQLCLELEAWERGRAVDLRGLGFDRAAR
                     QVHEKALFLVFGRTKKRDLFFNEIKARSGQDDKTVYEYLFSQRRKRRAPLATRQGKRP
                     SKNLKARCSRKALHVNFKDMGWDDWIIAPLEYEAFHCEGLCEFPLRSHLEPTNHAVIQ
                     TLMNSMDPESTPPTCCVPTRLSPISILFIDSANNVVYKQYEDMVVESCGCR"
     exon            932..2368
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2343..2348
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="hexamer: GATAAA"
     polyA_site      2368
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="major polyA site"
ORIGIN      
        1 agttgtgcag gagaaagggg gcggtcggct ttctcctttc aagaacgagt tattttcagc
       61 tgctgactgg agacggtgca cgtctggata cgagagcatt tccactatgg gactggatac
      121 aaacacacac ccggcagact tcaagagtct cagactgagg agaaagcctt tccttctgct
      181 gctactgctg ctgccgctgc ttttgaaagt ccactccttt catggttttt cctgccaaac
      241 cagaggcacc ttcgctgctg ccgctgttct ctttggtgtc attcagcggc tggccagagg
      301 atgagactcc ccaaactcct cactttcttg ctttggtacc tggcttggct ggacctggaa
      361 ttcatctgca ctgtgttggg tgcccctgac ttgggccaga gaccccaggg gaccaggcca
      421 ggattggcca aagcagaggc caaggagagg ccccccctgg cccggaacgt cttcaggcca
      481 gggggtcaca gctatggtgg gggggccacc aatgccaatg ccagggcaaa gggaggcacc
      541 gggcagacag gaggcctgac acagcccaag aaggatgaac ccaaaaagct gccccccaga
      601 ccgggcggcc ctgaacccaa gccaggacac cctccccaaa caaggcaggc tacagcccgg
      661 actgtgaccc caaaaggaca gcttcccgga ggcaaggcac ccccaaaagc aggatctgtc
      721 cccagctcct tcctgctgaa gaaggccagg gagcccgggc ccccacgaga gcccaaggag
      781 ccgtttcgcc caccccccat cacaccccac gagtacatgc tctcgctgta caggacgctg
      841 tccgatgctg acagaaaggg aggcaacagc agcgtgaagt tggaggctgg cctggccaac
      901 accatcacca gctttattga caaagggcaa gatgaccgag gtcccgtggt caggaagcag
      961 aggtacgtgt ttgacattag tgccctggag aaggatgggc tgctgggggc cgagctgcgg
     1021 atcttgcgga agaagccctc ggacacggcc aagccagcgg cccccggagg cgggcgggct
     1081 gcccagctga agctgtccag ctgccccagc ggccggcagc cggccgcctt gctggatgtg
     1141 cgctccgtgc caggcctgga cggatctggc tgggaggtgt tcgacatctg gaagctcttc
     1201 cgaaacttta agaactcggc ccagctgtgc ctggagctgg aggcctggga acggggcagg
     1261 gccgtggacc tccgtggcct gggcttcgac cgcgccgccc ggcaggtcca cgagaaagcc
     1321 ctgttcctgg tgtttggccg caccaagaaa cgggacctgt tctttaatga gattaaggcc
     1381 cgctctggcc aggacgataa gaccgtgtat gagtacctgt tcagccagcg gcgaaaacgg
     1441 cgggccccac tggccactcg ccagggcaag cgacccagca agaaccttaa ggctcgctgc
     1501 agtcggaagg cactgcatgt caacttcaag gacatgggct gggacgactg gatcatcgca
     1561 ccccttgagt acgaggcttt ccactgcgag gggctgtgcg agttcccatt gcgctcccac
     1621 ctggagccca cgaatcatgc agtcatccag accctgatga actccatgga ccccgagtcc
     1681 acaccaccca cctgctgtgt gcccacgcgg ctgagtccca tcagcatcct cttcattgac
     1741 tctgccaaca acgtggtgta taagcagtat gaggacatgg tcgtggagtc gtgtggctgc
     1801 aggtagcagc actggccctc tgtcttcctg ggtggcacat cccaagagcc ccttcctgca
     1861 ctcctggaat cacagagggg tcaggaagct gtggcaggag catctacaca gcttgggtga
     1921 aaggggattc caataagctt gctcgctctc tgagtgtgac ttgggctaaa ggcccccttt
     1981 tatccacaag ttcccctggc tgaggattgc tgcccgtctg ctgatgtgac cagtggcagg
     2041 cacaggtcca gggagacaga ctctgaatgg gactgagtcc caggaaacag tgctttccga
     2101 tgagactcag cccaccattt ctcctcacct gggccttctc agcctctgga ctctcctaag
     2161 cacctctcag gagagccaca ggtgccactg cctcctcaaa tcacatttgt gcctggtgac
     2221 ttcctgtccc tgggacagtt gagaagctga ctgggcaaga gtgggagaga agaggagagg
     2281 gcttggatag agttgaggag tgtgaggctg ttagactgtt agatttaaat gtatattgat
     2341 gagataaaaa gcaaaactgt gcctaaaa
//
