LOCUS       NM_020638               3002 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.
ACCESSION   NM_020638
VERSION     NM_020638.3
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 3002)
  AUTHORS   Zhang,X. and Xu,J.
  TITLE     Fibroblast growth factor 23-mediated regulation of osteoporosis:
            Assessed via Mendelian randomization and in vitro study
  JOURNAL   J Cell Mol Med 28 (14), e18551 (2024)
   PUBMED   39054573
  REMARK    GeneRIF: Fibroblast growth factor 23-mediated regulation of
            osteoporosis: Assessed via Mendelian randomization and in vitro
            study.
REFERENCE   2  (bases 1 to 3002)
  AUTHORS   Donate-Correa,J., Martin-Nunez,E., Hernandez-Carballo,C.,
            Gonzalez-Luis,A., Mora-Fernandez,C., Martin-Olivera,A.,
            Rodriguez-Ramos,S., Cerro-Lopez,P., Lopez-Castillo,A.,
            Delgado-Molinos,A., Lopez-Tarruella,V.C. and Navarro-Gonzalez,J.F.
  TITLE     FGF23 as a Potential Pathophysiological Factor in Peripheral
            Arterial Disease Associated with Chronic Kidney Disease
  JOURNAL   Int J Mol Sci 25 (10), 5457 (2024)
   PUBMED   38791495
  REMARK    GeneRIF: FGF23 as a Potential Pathophysiological Factor in
            Peripheral Arterial Disease Associated with Chronic Kidney Disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3002)
  AUTHORS   Shimada,T., Muto,T., Urakawa,I., Yoneya,T., Yamazaki,Y., Okawa,K.,
            Takeuchi,Y., Fujita,T., Fukumoto,S. and Yamashita,T.
  TITLE     Mutant FGF-23 responsible for autosomal dominant hypophosphatemic
            rickets is resistant to proteolytic cleavage and causes
            hypophosphatemia in vivo
  JOURNAL   Endocrinology 143 (8), 3179-3182 (2002)
   PUBMED   12130585
REFERENCE   4  (bases 1 to 3002)
  AUTHORS   White,K.E., Carn,G., Lorenz-Depiereux,B., Benet-Pages,A.,
            Strom,T.M. and Econs,M.J.
  TITLE     Autosomal-dominant hypophosphatemic rickets (ADHR) mutations
            stabilize FGF-23
  JOURNAL   Kidney Int 60 (6), 2079-2086 (2001)
   PUBMED   11737582
  REMARK    GeneRIF: Autosomal-dominant hypophosphatemic rickets (ADHR)
            mutations stabilize FGF-23
REFERENCE   5  (bases 1 to 3002)
  AUTHORS   Bowe,A.E., Finnegan,R., Jan de Beur,S.M., Cho,J., Levine,M.A.,
            Kumar,R. and Schiavi,S.C.
  TITLE     FGF-23 inhibits renal tubular phosphate transport and is a PHEX
            substrate
  JOURNAL   Biochem Biophys Res Commun 284 (4), 977-981 (2001)
   PUBMED   11409890
REFERENCE   6  (bases 1 to 3002)
  AUTHORS   Shimada,T., Mizutani,S., Muto,T., Yoneya,T., Hino,R., Takeda,S.,
            Takeuchi,Y., Fujita,T., Fukumoto,S. and Yamashita,T.
  TITLE     Cloning and characterization of FGF23 as a causative factor of
            tumor-induced osteomalacia
  JOURNAL   Proc Natl Acad Sci U S A 98 (11), 6500-6505 (2001)
   PUBMED   11344269
REFERENCE   7  (bases 1 to 3002)
  AUTHORS   White,K.E., Jonsson,K.B., Carn,G., Hampson,G., Spector,T.D.,
            Mannstadt,M., Lorenz-Depiereux,B., Miyauchi,A., Yang,I.M.,
            Ljunggren,O., Meitinger,T., Strom,T.M., Juppner,H. and Econs,M.J.
  TITLE     The autosomal dominant hypophosphatemic rickets (ADHR) gene is a
            secreted polypeptide overexpressed by tumors that cause phosphate
            wasting
  JOURNAL   J Clin Endocrinol Metab 86 (2), 497-500 (2001)
   PUBMED   11157998
REFERENCE   8  (bases 1 to 3002)
  CONSRTM   ADHR Consortium
  TITLE     Autosomal dominant hypophosphataemic rickets is associated with
            mutations in FGF23
  JOURNAL   Nat Genet 26 (3), 345-348 (2000)
   PUBMED   11062477
  REMARK    GeneRIF: FGF23 mutations cause autosomal dominant hypophosphatemic
            rickets (ADHR)
REFERENCE   9  (bases 1 to 3002)
  AUTHORS   Yamashita,T., Yoshioka,M. and Itoh,N.
  TITLE     Identification of a novel fibroblast growth factor, FGF-23,
            preferentially expressed in the ventrolateral thalamic nucleus of
            the brain
  JOURNAL   Biochem Biophys Res Commun 277 (2), 494-498 (2000)
   PUBMED   11032749
REFERENCE   10 (bases 1 to 3002)
  AUTHORS   Ramnitz,M.S., Gafni,R.I. and Collins,M.T.
  TITLE     Hyperphosphatemic Familial Tumoral Calcinosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29389098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF263537.1 and AB047858.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_020638.2.
            
            Summary: This gene encodes a member of the fibroblast growth factor
            family of proteins, which possess broad mitogenic and cell survival
            activities and are involved in a variety of biological processes.
            The product of this gene regulates phosphate homeostasis and
            transport in the kidney. The full-length, functional protein may be
            deactivated via cleavage into N-terminal and C-terminal chains.
            Mutation of this cleavage site causes autosomal dominant
            hypophosphatemic rickets (ADHR). Mutations in this gene are also
            associated with hyperphosphatemic familial tumoral calcinosis
            (HFTC). [provided by RefSeq, Feb 2013].
            
            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 :: AB047858.1, AF263537.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159607, SAMEA2162895
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000237837.2/ ENSP00000237837.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1596              AF263537.1         17-1612
            1597-3002           AB047858.1         1599-3004
FEATURES             Location/Qualifiers
     source          1..3002
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.32"
     gene            1..3002
                     /gene="FGF23"
                     /gene_synonym="ADHR; FGFN; HFTC2; HPDR2; HYPF; PHPTC"
                     /note="fibroblast growth factor 23"
                     /db_xref="GeneID:8074"
                     /db_xref="HGNC:HGNC:3680"
                     /db_xref="MIM:605380"
     exon            1..341
                     /gene="FGF23"
                     /gene_synonym="ADHR; FGFN; HFTC2; HPDR2; HYPF; PHPTC"
                     /inference="alignment:Splign:2.1.0"
     CDS             131..886
                     /gene="FGF23"
                     /gene_synonym="ADHR; FGFN; HFTC2; HPDR2; HYPF; PHPTC"
                     /note="tumor-derived hypophosphatemia inducing factor;
                     phosphatonin"
                     /codon_start=1
                     /product="fibroblast growth factor 23 precursor"
                     /protein_id="NP_065689.1"
                     /db_xref="CCDS:CCDS8526.1"
                     /db_xref="GeneID:8074"
                     /db_xref="HGNC:HGNC:3680"
                     /db_xref="MIM:605380"
                     /translation="MLGARLRLWVCALCSVCSMSVLRAYPNASPLLGSSWGGLIHLYT
                     ATARNSYHLQIHKNGHVDGAPHQTIYSALMIRSEDAGFVVITGVMSRRYLCMDFRGNI
                     FGSHYFDPENCRFQHQTLENGYDVYHSPQYHFLVSLGRAKRAFLPGMNPPPYSQFLSR
                     RNEIPLIHFNTPIPRRHTRSAEDDSERDPLNVLKPRARMTPAPASCSQELPSAEDNSP
                     MASDPLGVVRGGRVNTHAGGTGPEGCRPFAKFI"
     exon            342..445
                     /gene="FGF23"
                     /gene_synonym="ADHR; FGFN; HFTC2; HPDR2; HYPF; PHPTC"
                     /inference="alignment:Splign:2.1.0"
     exon            446..3002
                     /gene="FGF23"
                     /gene_synonym="ADHR; FGFN; HFTC2; HPDR2; HYPF; PHPTC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2752..2757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF23"
                     /gene_synonym="ADHR; FGFN; HFTC2; HPDR2; HYPF; PHPTC"
                     /note="hexamer: AATAAA"
     regulatory      2758..2763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF23"
                     /gene_synonym="ADHR; FGFN; HFTC2; HPDR2; HYPF; PHPTC"
                     /note="hexamer: AATAAA"
     polyA_site      2773
                     /gene="FGF23"
                     /gene_synonym="ADHR; FGFN; HFTC2; HPDR2; HYPF; PHPTC"
                     /note="major polyA site"
     polyA_site      2788
                     /gene="FGF23"
                     /gene_synonym="ADHR; FGFN; HFTC2; HPDR2; HYPF; PHPTC"
ORIGIN      
        1 atccagtcta ggatcctcac accagctact tgcaagggag aaggaaaagg ccagtaaggc
       61 ctgggccagg agagtcccga caggagtgtc aggtttcaat ctcagcacca gccactcaga
      121 gcagggcacg atgttggggg cccgcctcag gctctgggtc tgtgccttgt gcagcgtctg
      181 cagcatgagc gtcctcagag cctatcccaa tgcctcccca ctgctcggct ccagctgggg
      241 tggcctgatc cacctgtaca cagccacagc caggaacagc taccacctgc agatccacaa
      301 gaatggccat gtggatggcg caccccatca gaccatctac agtgccctga tgatcagatc
      361 agaggatgct ggctttgtgg tgattacagg tgtgatgagc agaagatacc tctgcatgga
      421 tttcagaggc aacatttttg gatcacacta tttcgacccg gagaactgca ggttccaaca
      481 ccagacgctg gaaaacgggt acgacgtcta ccactctcct cagtatcact tcctggtcag
      541 tctgggccgg gcgaagagag ccttcctgcc aggcatgaac ccacccccgt actcccagtt
      601 cctgtcccgg aggaacgaga tccccctaat tcacttcaac acccccatac cacggcggca
      661 cacccggagc gccgaggacg actcggagcg ggaccccctg aacgtgctga agccccgggc
      721 ccggatgacc ccggccccgg cctcctgttc acaggagctc ccgagcgccg aggacaacag
      781 cccgatggcc agtgacccat taggggtggt caggggcggt cgagtgaaca cgcacgctgg
      841 gggaacgggc ccggaaggct gccgcccctt cgccaagttc atctagggtc gctggaaggg
      901 caccctcttt aacccatccc tcagcaaacg cagctcttcc caaggaccag gtcccttgac
      961 gttccgagga tgggaaaggt gacaggggca tgtatggaat ttgctgcttc tctggggtcc
     1021 cttccacagg aggtcctgtg agaaccaacc tttgaggccc aagtcatggg gtttcaccgc
     1081 cttcctcact ccatatagaa cacctttccc aataggaaac cccaacaggt aaactagaaa
     1141 tttccccttc atgaaggtag agagaagggg tctctcccaa catatttctc ttccttgtgc
     1201 ctctcctctt tatcactttt aagcataaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaagc
     1261 agtgggttcc tgagctcaag actttgaagg tgtagggaag aggaaatcgg agatcccaga
     1321 agcttctcca ctgccctatg catttatgtt agatgccccg atcccactgg catttgagtg
     1381 tgcaaacctt gacattaaca gctgaatggg gcaagttgat gaaaacacta ctttcaagcc
     1441 ttcgttcttc cttgagcatc tctggggaag agctgtcaaa agactggtgg taggctggtg
     1501 aaaacttgac agctagactt gatgcttgct gaaatgaggc aggaatcata atagaaaact
     1561 cagcctccct acagggtgag caccttctgt ctcgctgtct ccctctgtgc agccacagcc
     1621 agagggccca gaatggcccc actctgttcc caagcagttc atgatacagc ctcacctttt
     1681 ggccccatct ctggtttttg aaaatttggt ctaaggaata aatagctttt acactggctc
     1741 acgaaaatct gccctgctag aatttgcttt tcaaaatgga aataaattcc aactctccta
     1801 agaggcattt aattaaggct ctacttccag gttgagtagg aatccattct gaacaaacta
     1861 caaaaatgtg actgggaagg gggctttgag agactgggac tgctctgggt taggttttct
     1921 gtggactgaa aaatcgtgtc cttttctcta aatgaagtgg catcaaggac tcagggggaa
     1981 agaaatcagg ggacatgtta tagaagttat gaaaagacaa ccacatggtc aggctcttgt
     2041 ctgtggtctc tagggctctg cagcagcagt ggctcttcga ttagttaaaa ctctcctagg
     2101 ctgacacatc tgggtctcaa tccccttgga aattcttggt gcattaaatg aagccttacc
     2161 ccattactgc ggttcttcct gtaagggggc tccattttcc tccctctctt taaatgacca
     2221 cctaaaggac agtatattaa caagcaaagt cgattcaaca acagcttctt cccagtcact
     2281 tttttttttc tcactgccat cacatactaa ccttatactt tgatctattc tttttggtta
     2341 tgagagaaat gttgggcaac tgtttttacc tgatggtttt aagctgaact tgaaggactg
     2401 gttcctattc tgaaacagta aaactatgta taatagtata tagccatgca tggcaaatat
     2461 tttaatattt ctgttttcat ttcctgttgg aaatattatc ctgcataata gctattggag
     2521 gctcctcagt gaaagatccc aaaaggattt tggtggaaaa ctagttgtaa tctcacaaac
     2581 tcaacactac catcaggggt tttctttatg gcaaagccaa aatagctcct acaatttctt
     2641 atatccctcg tcatgtggca gtatttattt atttatttgg aagtttgcct atccttctat
     2701 atttatagat atttataaaa atgtaacccc tttttccttt cttctgttta aaataaaaat
     2761 aaaatttatc tcagcttctg ttagcttatc ctctttgtag tactacttaa aagcatgtcg
     2821 gaatataaga ataaaaagga ttatgggagg ggaacattag ggaaatccag agaaggcaaa
     2881 attgaaaaaa agattttaga attttaaaat tttcaaagat ttcttccatt cataaggaga
     2941 ctcaatgatt ttaattgatc tagacagaat tatttaagtt ttatcaatat tggatttctg
     3001 gt
//
