LOCUS       NM_000142               4301 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens fibroblast growth factor receptor 3 (FGFR3),
            transcript variant 1, mRNA.
ACCESSION   NM_000142
VERSION     NM_000142.5
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 4301)
  AUTHORS   Noeraparast,M., Krajina,K., Pichler,R., Niedersuss-Beke,D.,
            Shariat,S.F., Grunwald,V., Ahyai,S. and Pichler,M.
  TITLE     FGFR3 alterations in bladder cancer: Sensitivity and resistance to
            targeted therapies
  JOURNAL   Cancer Commun (Lond) 44 (10), 1189-1208 (2024)
   PUBMED   39161208
  REMARK    GeneRIF: FGFR3 alterations in bladder cancer: Sensitivity and
            resistance to targeted therapies.
            Review article
REFERENCE   2  (bases 1 to 4301)
  AUTHORS   Kobatake,K., Ikeda,K., Kohada,Y., Tasaka,R., Takemoto,K.,
            Fukushima,T., Miyamoto,S., Sekino,Y., Kitano,H., Goto,K., Hieda,K.,
            Goriki,A., Hayashi,T. and Hinata,N.
  TITLE     Muscle-Invasive Bladder Cancer With Hydronephrosis Exhibits a High
            Frequency of Mutations in Fibroblast Growth Factor Receptor 3 Gene
  JOURNAL   Anticancer Res 44 (5), 1947-1954 (2024)
   PUBMED   38677755
  REMARK    GeneRIF: Muscle-Invasive Bladder Cancer With Hydronephrosis
            Exhibits a High Frequency of Mutations in Fibroblast Growth Factor
            Receptor 3 Gene.
REFERENCE   3  (bases 1 to 4301)
  AUTHORS   Shen,N., Zhang,J., Xia,Y., Shen,X.X., Wang,J., Jin,Y.Y., Zhang,R.,
            Li,J.Y. and Chen,L.J.
  TITLE     [Clinical characteristics and prognosis of newly diagnosed multiple
            myeloma patients with FGFR3 gene mutations]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 44 (12), 989-994 (2023)
   PUBMED   38503521
  REMARK    GeneRIF: [Clinical characteristics and prognosis of newly diagnosed
            multiple myeloma patients with FGFR3 gene mutations].
REFERENCE   4  (bases 1 to 4301)
  AUTHORS   Bober,M.B., Bellus,G.A., Nikkel,S.M. and Tiller,G.E.
  TITLE     Hypochondroplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301650
REFERENCE   5  (bases 1 to 4301)
  AUTHORS   Wenger,T., Miller,D. and Evans,K.
  TITLE     FGFR Craniosynostosis Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301628
REFERENCE   6  (bases 1 to 4301)
  AUTHORS   Kruszka,P., Rolle,M., Kahle,K.T. and Muenke,M.
  TITLE     Muenke Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301588
REFERENCE   7  (bases 1 to 4301)
  AUTHORS   French,T. and Savarirayan,R.
  TITLE     Thanatophoric Dysplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301540
REFERENCE   8  (bases 1 to 4301)
  AUTHORS   Legare,J.M.
  TITLE     Achondroplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301331
REFERENCE   9  (bases 1 to 4301)
  AUTHORS   Thompson,L.M., Plummer,S., Schalling,M., Altherr,M.R.,
            Gusella,J.F., Housman,D.E. and Wasmuth,J.J.
  TITLE     A gene encoding a fibroblast growth factor receptor isolated from
            the Huntington disease gene region of human chromosome 4
  JOURNAL   Genomics 11 (4), 1133-1142 (1991)
   PUBMED   1664411
REFERENCE   10 (bases 1 to 4301)
  AUTHORS   Keegan,K., Johnson,D.E., Williams,L.T. and Hayman,M.J.
  TITLE     Isolation of an additional member of the fibroblast growth factor
            receptor family, FGFR-3
  JOURNAL   Proc Natl Acad Sci U S A 88 (4), 1095-1099 (1991)
   PUBMED   1847508
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016773.8.
            
            On Mar 11, 2020 this sequence version replaced NM_000142.4.
            
            Summary: This gene encodes a member of the fibroblast growth factor
            receptor (FGFR) family, with its amino acid sequence being highly
            conserved between members and among divergent species. FGFR family
            members differ from one another in their ligand affinities and
            tissue distribution. A full-length representative protein would
            consist of an extracellular region, composed of three
            immunoglobulin-like domains, a single hydrophobic membrane-spanning
            segment and a cytoplasmic tyrosine kinase domain. The extracellular
            portion of the protein interacts with fibroblast growth factors,
            setting in motion a cascade of downstream signals, ultimately
            influencing mitogenesis and differentiation. This particular family
            member binds acidic and basic fibroblast growth hormone and plays a
            role in bone development and maintenance. Mutations in this gene
            lead to craniosynostosis and multiple types of skeletal dysplasia.
            [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (1) lacks an alternate coding exon
            and contains another alternate coding exon compared to variant 3.
            The resulting isoform (1) has the same N- and C-termini but is
            shorter compared to isoform 3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR9304719.217759.1,
                                           ERR3218372.729235.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000440486.8/ ENSP00000414914.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-173               AC016773.8         169468-169640
            174-384             AC016773.8         170008-170218
            385-654             AC016773.8         175429-175698
            655-720             AC016773.8         175922-175987
            721-890             AC016773.8         177542-177711
            891-1014            AC016773.8         177795-177918
            1015-1205           AC016773.8         178010-178200
            1206-1350           AC016773.8         179867-180011
            1351-1541           AC016773.8         180505-180695
            1542-1687           AC016773.8         180999-181144
            1688-1809           AC016773.8         181530-181651
            1810-1920           AC016773.8         181734-181844
            1921-2111           AC016773.8         181925-182115
            2112-2234           AC016773.8         182226-182348
            2235-2305           AC016773.8         182432-182502
            2306-2443           AC016773.8         182721-182858
            2444-2549           AC016773.8         183004-183109
            2550-4301           AC016773.8         183291-185042
FEATURES             Location/Qualifiers
     source          1..4301
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..4301
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="fibroblast growth factor receptor 3"
                     /db_xref="GeneID:2261"
                     /db_xref="HGNC:HGNC:3690"
                     /db_xref="MIM:134934"
     exon            1..173
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            174..384
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     CDS             276..2696
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /EC_number="2.7.10.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; hydroxyaryl-protein kinase; tyrosine kinase
                     JTK4; FGFR-3; fibroblast growth factor receptor 3-S"
                     /codon_start=1
                     /product="fibroblast growth factor receptor 3 isoform 1
                     precursor"
                     /protein_id="NP_000133.1"
                     /db_xref="CCDS:CCDS3353.1"
                     /db_xref="GeneID:2261"
                     /db_xref="HGNC:HGNC:3690"
                     /db_xref="MIM:134934"
                     /translation="MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPG
                     QQEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHE
                     DSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMD
                     KKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESV
                     VPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCK
                     VYSDAQPHIQWLKHVEVNGSKVGPDGTPYVTVLKTAGANTTDKELEVLSLHNVTFEDA
                     GEYTCLAGNSIGFSHHSAWLVVLPAEEELVEADEAGSVYAGILSYGVGFFLFILVVAA
                     VTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPT
                     LANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVK
                     MLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREF
                     LRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVL
                     VTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGV
                     LLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPT
                     FKQLVEDLDRVLTVTSTDEYLDLSAPFEQYSPGGQDTPSSSSSGDDSVFAHDLLPPAP
                     PSSGGSRT"
     exon            385..654
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            655..720
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            721..890
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            891..1014
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1205
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            1206..1350
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1541
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            1542..1687
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..1809
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            1810..1920
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            1921..2111
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            2112..2234
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            2235..2305
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            2306..2443
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            2444..2549
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     exon            2550..4301
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4280..4285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="hexamer: AATAAA"
     polyA_site      4301
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgcggt ggcggcggcg tcgcgggcag ctggcgccgc gcggtcctgc tctgccggtc
       61 gcacggacgc accggcgggc cgccggccgg agggacgggg cgggagctgg gcccgcggac
      121 agcgagccgg agcgggagcc gcgcgtagcg agccgggctc cggcgctcgc cagtctcccg
      181 agcggcgccc gcctcccgcc ggtgcccgcg ccgggccgtg gggggcagca tgcccgcgcg
      241 cgctgcctga ggacgccgcg gcccccgccc ccgccatggg cgcccctgcc tgcgccctcg
      301 cgctctgcgt ggccgtggcc atcgtggccg gcgcctcctc ggagtccttg gggacggagc
      361 agcgcgtcgt ggggcgagcg gcagaagtcc cgggcccaga gcccggccag caggagcagt
      421 tggtcttcgg cagcggggat gctgtggagc tgagctgtcc cccgcccggg ggtggtccca
      481 tggggcccac tgtctgggtc aaggatggca cagggctggt gccctcggag cgtgtcctgg
      541 tggggcccca gcggctgcag gtgctgaatg cctcccacga ggactccggg gcctacagct
      601 gccggcagcg gctcacgcag cgcgtactgt gccacttcag tgtgcgggtg acagacgctc
      661 catcctcggg agatgacgaa gacggggagg acgaggctga ggacacaggt gtggacacag
      721 gggcccctta ctggacacgg cccgagcgga tggacaagaa gctgctggcc gtgccggccg
      781 ccaacaccgt ccgcttccgc tgcccagccg ctggcaaccc cactccctcc atctcctggc
      841 tgaagaacgg cagggagttc cgcggcgagc accgcattgg aggcatcaag ctgcggcatc
      901 agcagtggag cctggtcatg gaaagcgtgg tgccctcgga ccgcggcaac tacacctgcg
      961 tcgtggagaa caagtttggc agcatccggc agacgtacac gctggacgtg ctggagcgct
     1021 ccccgcaccg gcccatcctg caggcggggc tgccggccaa ccagacggcg gtgctgggca
     1081 gcgacgtgga gttccactgc aaggtgtaca gtgacgcaca gccccacatc cagtggctca
     1141 agcacgtgga ggtgaatggc agcaaggtgg gcccggacgg cacaccctac gttaccgtgc
     1201 tcaagacggc gggcgctaac accaccgaca aggagctaga ggttctctcc ttgcacaacg
     1261 tcacctttga ggacgccggg gagtacacct gcctggcggg caattctatt gggttttctc
     1321 atcactctgc gtggctggtg gtgctgccag ccgaggagga gctggtggag gctgacgagg
     1381 cgggcagtgt gtatgcaggc atcctcagct acggggtggg cttcttcctg ttcatcctgg
     1441 tggtggcggc tgtgacgctc tgccgcctgc gcagcccccc caagaaaggc ctgggctccc
     1501 ccaccgtgca caagatctcc cgcttcccgc tcaagcgaca ggtgtccctg gagtccaacg
     1561 cgtccatgag ctccaacaca ccactggtgc gcatcgcaag gctgtcctca ggggagggcc
     1621 ccacgctggc caatgtctcc gagctcgagc tgcctgccga ccccaaatgg gagctgtctc
     1681 gggcccggct gaccctgggc aagccccttg gggagggctg cttcggccag gtggtcatgg
     1741 cggaggccat cggcattgac aaggaccggg ccgccaagcc tgtcaccgta gccgtgaaga
     1801 tgctgaaaga cgatgccact gacaaggacc tgtcggacct ggtgtctgag atggagatga
     1861 tgaagatgat cgggaaacac aaaaacatca tcaacctgct gggcgcctgc acgcagggcg
     1921 ggcccctgta cgtgctggtg gagtacgcgg ccaagggtaa cctgcgggag tttctgcggg
     1981 cgcggcggcc cccgggcctg gactactcct tcgacacctg caagccgccc gaggagcagc
     2041 tcaccttcaa ggacctggtg tcctgtgcct accaggtggc ccggggcatg gagtacttgg
     2101 cctcccagaa gtgcatccac agggacctgg ctgcccgcaa tgtgctggtg accgaggaca
     2161 acgtgatgaa gatcgcagac ttcgggctgg cccgggacgt gcacaacctc gactactaca
     2221 agaagacgac caacggccgg ctgcccgtga agtggatggc gcctgaggcc ttgtttgacc
     2281 gagtctacac tcaccagagt gacgtctggt cctttggggt cctgctctgg gagatcttca
     2341 cgctgggggg ctccccgtac cccggcatcc ctgtggagga gctcttcaag ctgctgaagg
     2401 agggccaccg catggacaag cccgccaact gcacacacga cctgtacatg atcatgcggg
     2461 agtgctggca tgccgcgccc tcccagaggc ccaccttcaa gcagctggtg gaggacctgg
     2521 accgtgtcct taccgtgacg tccaccgacg agtacctgga cctgtcggcg cctttcgagc
     2581 agtactcccc gggtggccag gacaccccca gctccagctc ctcaggggac gactccgtgt
     2641 ttgcccacga cctgctgccc ccggccccac ccagcagtgg gggctcgcgg acgtgaaggg
     2701 ccactggtcc ccaacaatgt gaggggtccc tagcagccca ccctgctgct ggtgcacagc
     2761 cactccccgg catgagactc agtgcagatg gagagacagc tacacagagc tttggtctgt
     2821 gtgtgtgtgt gtgcgtgtgt gtgtgtgtgt gtgcacatcc gcgtgtgcct gtgtgcgtgc
     2881 gcatcttgcc tccaggtgca gaggtaccct gggtgtcccc gctgctgtgc aacggtctcc
     2941 tgactggtgc tgcagcaccg aggggccttt gttctggggg gacccagtgc agaatgtaag
     3001 tgggcccacc cggtgggacc cccgtggggc agggagctgg gcccgacatg gctccggcct
     3061 ctgcctttgc accacgggac atcacagggt gggcctcggc ccctcccaca cccaaagctg
     3121 agcctgcagg gaagccccac atgtccagca ccttgtgcct ggggtgttag tggcaccgcc
     3181 tccccacctc caggctttcc cacttcccac cctgcccctc agagactgaa attacgggta
     3241 cctgaagatg ggagccttta ccttttatgc aaaaggttta ttccggaaac tagtgtacat
     3301 ttctataaat agatgctgtg tatatggtat atatacatat atatatataa catatatgga
     3361 agaggaaaag gctggtacaa cggaggcctg cgaccctggg ggcacaggag gcaggcatgg
     3421 ccctgggcgg ggcgtggggg ggcgtggagg gaggccccag ggggtctcac ccatgcaagc
     3481 agaggaccag ggccttttct ggcaccgcag ttttgtttta aaactggacc tgtatatttg
     3541 taaagctatt tatgggcccc tggcactctt gttcccacac cccaacactt ccagcattta
     3601 gctggccaca tggcggagag ttttaatttt taacttattg acaaccgaga aggtttatcc
     3661 cgccgataga gggacggcca agaatgtacg tccagcctgc cccggagctg gaggatcccc
     3721 tccaagccta aaaggttgtt aatagttgga ggtgattcca gtgaagatat tttatttcct
     3781 ttgtcctttt tcaggagaat tagatttcta taggattttt ctttaggaga tttatttttt
     3841 ggacttcaaa gcaagctggt attttcatac aaattcttct aattgctgtg tgtcccaggc
     3901 agggagacgg tttccaggga ggggccggcc ctgtgtgcag gttccgatgt tattagatgt
     3961 tacaagttta tatatatcta tatatataat ttattgagtt tttacaagat gtatttgttg
     4021 tagacttaac acttcttacg caatgcttct agagttttat agcctggact gctacctttc
     4081 aaagcttgga gggaagccgt gaattcagtt ggttcgttct gtactgttac tgggccctga
     4141 gtctgggcag ctgtcccttg cttgcctgca gggccatggc tcagggtggt ctcttcttgg
     4201 ggcccagtgc atggtggcca gaggtgtcac ccaaaccggc aggtgcgatt ttgttaaccc
     4261 agcgacgaac tttccgaaaa ataaagacac ctggttgcta a
//
