LOCUS       NM_001321949            3654 bp    mRNA    linear   PRI 29-JAN-2025
DEFINITION  Homo sapiens fibroblast growth factor 14 (FGF14), transcript
            variant 21, mRNA.
ACCESSION   NM_001321949
VERSION     NM_001321949.1
KEYWORDS    RefSeq.
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 3654)
  AUTHORS   Mohren,L., Erdlenbruch,F., Leitao,E., Kilpert,F., Hones,G.S.,
            Kaya,S., Schroder,C., Thieme,A., Sturm,M., Park,J., Schluter,A.,
            Ruiz,M., Morales de la Prida,M., Casasnovas,C., Becker,K.,
            Roggenbuck,U., Pechlivanis,S., Kaiser,F.J., Synofzik,M., Wirth,T.,
            Anheim,M., Haack,T.B., Lockhart,P.J., Jockel,K.H., Pujol,A.,
            Klebe,S., Timmann,D. and Depienne,C.
  TITLE     Identification and characterisation of pathogenic and
            non-pathogenic FGF14 repeat expansions
  JOURNAL   Nat Commun 15 (1), 7665 (2024)
   PUBMED   39227614
  REMARK    GeneRIF: Identification and characterisation of pathogenic and
            non-pathogenic FGF14 repeat expansions.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3654)
  AUTHORS   Zheng,Z.H., Cao,C.Y., Cheng,B., Yuan,R.Y., Zeng,Y.H., Guo,Z.B.,
            Qiu,Y.S., Lv,W.Q., Liang,H., Li,J.L., Zhang,W.X., Fang,M.K.,
            Sun,Y.H., Lin,W., Hong,J.M., Gan,S.R., Wang,N., Chen,W.J., Du,G.Q.
            and Fang,L.
  TITLE     Characteristics of tandem repeat inheritance and sympathetic nerve
            involvement in GAA-FGF14 ataxia
  JOURNAL   J Hum Genet 69 (9), 433-440 (2024)
   PUBMED   38866925
  REMARK    GeneRIF: Characteristics of tandem repeat inheritance and
            sympathetic nerve involvement in GAA-FGF14 ataxia.
REFERENCE   3  (bases 1 to 3654)
  AUTHORS   Pellerin,D., Del Gobbo,G.F., Couse,M., Dolzhenko,E.,
            Nageshwaran,S.K., Cheung,W.A., Xu,I.R.L., Dicaire,M.J.,
            Spurdens,G., Matos-Rodrigues,G., Stevanovski,I., Scriba,C.K.,
            Rebelo,A., Roth,V., Wandzel,M., Bonnet,C., Ashton,C., Agarwal,A.,
            Peter,C., Hasson,D., Tsankova,N.M., Dewar,K., Lamont,P.J.,
            Laing,N.G., Renaud,M., Houlden,H., Synofzik,M., Usdin,K.,
            Nussenzweig,A., Napierala,M., Chen,Z., Jiang,H., Deveson,I.W.,
            Ravenscroft,G., Akbarian,S., Eberle,M.A., Boycott,K.M.,
            Pastinen,T., Brais,B., Zuchner,S. and Danzi,M.C.
  CONSRTM   All of Us Research Program Long Read Working Group
  TITLE     A common flanking variant is associated with enhanced stability of
            the FGF14-SCA27B repeat locus
  JOURNAL   Nat Genet 56 (7), 1366-1370 (2024)
   PUBMED   38937606
  REMARK    GeneRIF: A common flanking variant is associated with enhanced
            stability of the FGF14-SCA27B repeat locus.
REFERENCE   4  (bases 1 to 3654)
  AUTHORS   Ouyang,R., Wan,L., Pellerin,D., Long,Z., Hu,J., Jiang,Q., Wang,C.,
            Peng,L., Peng,H., He,L., Qiu,R., Wang,J., Guo,J., Shen,L.,
            Brais,B., Danzi,M.C., Zuchner,S., Tang,B., Chen,Z. and Jiang,H.
  TITLE     The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia
            in China: a large cohort study
  JOURNAL   EBioMedicine 102, 105077 (2024)
   PUBMED   38513302
  REMARK    GeneRIF: The genetic landscape and phenotypic spectrum of GAA-FGF14
            ataxia in China: a large cohort study.
REFERENCE   5  (bases 1 to 3654)
  AUTHORS   van Swieten,J.C., Brusse,E., de Graaf,B.M., Krieger,E., van de
            Graaf,R., de Koning,I., Maat-Kievit,A., Leegwater,P., Dooijes,D.,
            Oostra,B.A. and Heutink,P.
  TITLE     A mutation in the fibroblast growth factor 14 gene is associated
            with autosomal dominant cerebellar ataxia [corrected]
  JOURNAL   Am J Hum Genet 72 (1), 191-199 (2003)
   PUBMED   12489043
  REMARK    GeneRIF: A mutation in the fibroblast growth factor 14 gene is
            associated with autosomal dominant cerebral ataxia
            Erratum:[Am J Hum Genet. 2003 Apr;72(4):1078]
REFERENCE   6  (bases 1 to 3654)
  AUTHORS   Chumakov,I., Blumenfeld,M., Guerassimenko,O., Cavarec,L.,
            Palicio,M., Abderrahim,H., Bougueleret,L., Barry,C., Tanaka,H., La
            Rosa,P., Puech,A., Tahri,N., Cohen-Akenine,A., Delabrosse,S.,
            Lissarrague,S., Picard,F.P., Maurice,K., Essioux,L., Millasseau,P.,
            Grel,P., Debailleul,V., Simon,A.M., Caterina,D., Dufaure,I.,
            Malekzadeh,K., Belova,M., Luan,J.J., Bouillot,M., Sambucy,J.L.,
            Primas,G., Saumier,M., Boubkiri,N., Martin-Saumier,S., Nasroune,M.,
            Peixoto,H., Delaye,A., Pinchot,V., Bastucci,M., Guillou,S.,
            Chevillon,M., Sainz-Fuertes,R., Meguenni,S., Aurich-Costa,J.,
            Cherif,D., Gimalac,A., Van Duijn,C., Gauvreau,D., Ouellette,G.,
            Fortier,I., Raelson,J., Sherbatich,T., Riazanskaia,N., Rogaev,E.,
            Raeymaekers,P., Aerssens,J., Konings,F., Luyten,W., Macciardi,F.,
            Sham,P.C., Straub,R.E., Weinberger,D.R., Cohen,N. and Cohen,D.
  TITLE     Genetic and physiological data implicating the new human gene G72
            and the gene for D-amino acid oxidase in schizophrenia
  JOURNAL   Proc Natl Acad Sci U S A 99 (21), 13675-13680 (2002)
   PUBMED   12364586
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Dec 24;99(26):17221.
            Ouelette, G [corrected to Ouellette, G]; Realson, J [corrected to
            Raelson, J]]
REFERENCE   7  (bases 1 to 3654)
  AUTHORS   Wang,Q., Bardgett,M.E., Wong,M., Wozniak,D.F., Lou,J., McNeil,B.D.,
            Chen,C., Nardi,A., Reid,D.C., Yamada,K. and Ornitz,D.M.
  TITLE     Ataxia and paroxysmal dyskinesia in mice lacking axonally
            transported FGF14
  JOURNAL   Neuron 35 (1), 25-38 (2002)
   PUBMED   12123606
REFERENCE   8  (bases 1 to 3654)
  AUTHORS   Smallwood,P.M., Munoz-Sanjuan,I., Tong,P., Macke,J.P., Hendry,S.H.,
            Gilbert,D.J., Copeland,N.G., Jenkins,N.A. and Nathans,J.
  TITLE     Fibroblast growth factor (FGF) homologous factors: new members of
            the FGF family implicated in nervous system development
  JOURNAL   Proc Natl Acad Sci U S A 93 (18), 9850-9857 (1996)
   PUBMED   8790420
REFERENCE   9  (bases 1 to 3654)
  AUTHORS   Pellerin,D., Danzi,M., Renaud,M., Houlden,H., Synofzik,M.,
            Zuchner,S. and Brais,B.
  TITLE     GAA-FGF14-Related Ataxia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   38271551
REFERENCE   10 (bases 1 to 3654)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356263.12, AL512629.7,
            AL591909.5 and AL160153.11.
            
            Summary: The protein encoded by this gene is a member of the
            fibroblast growth factor (FGF) family. FGF family members possess
            broad mitogenic and cell survival activities, and are involved in a
            variety of biological processes, including embryonic development,
            cell growth, morphogenesis, tissue repair, tumor growth and
            invasion. A mutation in this gene is associated with autosomal
            dominant cerebral ataxia. Alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803617.91417.1,
                                           SRR1803612.133584.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142586 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-958               AL356263.12        39161-40118         c
            959-1127            AL356263.12        4135-4303           c
            1128-1238           AL512629.7         6849-6959           c
            1239-1342           AL591909.5         55273-55376         c
            1343-1541           AL160153.11        58767-58965         c
            1542-3654           AL160153.11        53010-55122         c
FEATURES             Location/Qualifiers
     source          1..3654
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     gene            1..3654
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="fibroblast growth factor 14"
                     /db_xref="GeneID:2259"
                     /db_xref="HGNC:HGNC:3671"
                     /db_xref="MIM:601515"
     exon            1..958
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1127
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1238
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     CDS             1187..1678
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="isoform 2 is encoded by transcript variant 21;
                     fibroblast growth factor homologous factor 4; nystagmus 4,
                     congenital autosomal dominant"
                     /codon_start=1
                     /product="fibroblast growth factor 14 isoform 2"
                     /protein_id="NP_001308878.1"
                     /db_xref="GeneID:2259"
                     /db_xref="HGNC:HGNC:3671"
                     /db_xref="MIM:601515"
                     /translation="MHPDGALDGTKDDSTNSTLFNLIPVGLRVVAIQGVKTGLYIAMN
                     GEGYLYPSELFTPECKFKESVFENYYVIYSSMLYRQQESGRAWFLGLNKEGQAMKGNR
                     VKKTKPAAHFLPKPLEVAMYREPSLHDVGETVPKPGVTPSKSTSASAIMNGGKPVNKS
                     KTT"
     exon            1239..1342
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            1343..1541
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            1542..3654
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3565..3570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="hexamer: ATTAAA"
     polyA_site      3588
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="major polyA site"
     regulatory      3633..3638
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="hexamer: AATAAA"
     regulatory      3637..3642
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="hexamer: AATAAA"
     polyA_site      3651
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
     polyA_site      3654
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
ORIGIN      
        1 cctgtaactc acatccgagg ctgggcgagg aatccggagg ggagattttc ctcatgctca
       61 cggttgttgg aaactggaag agtgagagga aggaggaagg ggatttgtgg cgctctctac
      121 ctactacaag actgacaagg ggagggggca cctaaatttg catcttttct tcgtggtgat
      181 tgagaactgc aggttcaaac cgatcccact gagcactggc gattgattat aaaaaaaaat
      241 cgacactggg agaagggagg ctctgtcttc ggctgtcaga ctcaatctcg gaggtggtat
      301 tggtgtgtga gtgtgtgtgg tggtgttttt ttttcttttt ttttcttttt tctttctttc
      361 tttcctcttt tttttttttt ccttctctcc taggggctac acaatggcag tcttctctca
      421 gtaagatgaa tcctgctttg ccttctgcag atccacccat cctcatagcg atcaagtaaa
      481 aaggctatgg ttttctcttt ggggatcttt tgtgcattac tgttctccct gattagtttt
      541 gatctcagtt gggatctctt tgcttttctg tttggcttca tgctgaaaaa ggattttttc
      601 tccaaccctt tggtaataat ccggtggtga tcgagggggg ataaatcatt caccctggcc
      661 gaaaacaaac aatcactgag aagtctcaaa gaaatatacc acgtgagggg aaaaaactgg
      721 gagaagatcc ggaatattat cgtttttcct atggtaaaac cggtgcccct cttcaggaga
      781 actgatttca aattattatt atgcaaccac aaggatctct tctttctcag ggtgtctaag
      841 ctgctggatt gcttttcgcc caaatcaatg tggtttcttt ggaacatttt cagcaaagga
      901 acgcatatgc tgcagtgtct ttgtggcaag agtcttaaga aaaacaagaa cccaactgga
      961 gaatgtggtc agtgtttcag ccagtgcttg ctgctgaggc aggagagaat aattgtgtaa
     1021 agagggggct cccgcagtgc aggacaggaa gccaccatgt gagcaccaca tccacgtgca
     1081 ggtcgcaggc ttcatcatgt cctgaatacc atgccttagc attttatatc cccagctcaa
     1141 gggtatagtg accaggttat attgcaggca aggctactac ttgcaaatgc accccgatgg
     1201 agctctcgat ggaaccaagg atgacagcac taattctaca ctcttcaacc tcataccagt
     1261 gggactacgt gttgttgcca tccagggagt gaaaacaggg ttgtatatag ccatgaatgg
     1321 agaaggttac ctctacccat cagaactttt tacccctgaa tgcaagttta aagaatctgt
     1381 ttttgaaaat tattatgtaa tctactcatc catgttgtac agacaacagg aatctggtag
     1441 agcctggttt ttgggattaa ataaggaagg gcaagctatg aaagggaaca gagtaaagaa
     1501 aaccaaacca gcagctcatt ttctacccaa gccattggaa gttgccatgt accgagaacc
     1561 atctttgcat gatgttgggg aaacggtccc gaagcctggg gtgacgccaa gtaaaagcac
     1621 aagtgcgtct gcaataatga atggaggcaa accagtcaac aagagtaaga caacatagcc
     1681 agatcctcac aggtgttgtg acttattcgt cctgagcaca gttgagtgat ttatcctcac
     1741 cagacattcc tgctccgtgg ctgaagagca gcaggaagta agctaatgct tattctttgc
     1801 tgtctccgaa cttctctgtt gcaagtggat aaatctcaac ctgttgcacc ccccacaaca
     1861 agaagacacc tggataacca gctaaactca gaccatggaa tgccctacca gatatggaat
     1921 gcctttttaa tatcttttct gtgactgtga cacttcatgt gaatgacata cttcacaagt
     1981 acactcgata ccttgcctgc tgacagctac ccataatcct ttttgagtcc tgtttcagcg
     2041 aaatctatgt gtttaagttc aattttgtag cacacaaata atattgagta atttctagtt
     2101 agacgctgta aacctgtgct attacggatt tctcttcttc ccatttttac agggctgctc
     2161 gctccactgt ctgtgacctt ttgcagggat tttgttcctc taaatcttaa atgttgcagt
     2221 tggcttaggt cggagagcaa tcagggaatc aggaagcctt ctaaacctat tattacaaat
     2281 tgcatctata aagaaagatt aagaaagatt gttgtctctg gctcacacta tcgattaaac
     2341 acacatatac gctctgtcca gtagcagata ctgtgctccc aaggtcggca ttgcctgggt
     2401 gggaaatggc tcaaacacaa tccagggaag ctctctatga tatgtgtttg acatccccct
     2461 ctagtttctt tgtgtgtgtg tgttttatac atatcacaag cttactggta atggtaacat
     2521 ttgccttgcc cagcgagcaa gacccactgg tttttgagaa agtgggtcca aagatttctg
     2581 taggccttgt aggcctgatt aaggttcatt tttcatctat taattctcat tatttggaaa
     2641 aaaaaaaaaa ggaaaatcag taattataac ctacaagaat tgcgctacct aaatccattt
     2701 cagatatact ccgtcctgtt tttaatgaac caaacttaac gccatccccg tttctggctg
     2761 cgttcccctc atactcagca gagcatgggc aagacggctg ttgtgttctt tcctgcagca
     2821 gcaatgcaaa cgttagttat aaattaatta gactttaata tttttggtgt ttaatgacaa
     2881 gtttttaaac tggacatatt aggaaaaata ttttttttag ctcagcatgc tgagtccggt
     2941 actgtgtatt tcaccagtac atgcctctag ctcagcatct ggggctcatg ttgcccagtg
     3001 gctgggttag aggtgccttg ccatgatctc agaatacagt ctgttgaatt atcctagatg
     3061 aaaataaagg caaaccaaca cattcatcca tgaggatttt ggtccattcc atttattttc
     3121 ttttattttg cattcttaat ttccttttta gtttaacact gtttgtttga gcttagggaa
     3181 gacaactacc aagaaaggcc aggaacagtt gactacacaa tgaagattcc atgcaaaatg
     3241 ttcaatattg gatctaaagg ggttcaaaat gtttcatact aaactgtttg ggaatttatt
     3301 tgttaactct gtgtacacct aataaaattc aatgttttct tctcagaaga gttcattgag
     3361 accaaactga acctcattta ttgaaaatta tatgtgggat caatgtactg gcctcttgtt
     3421 attctttcta tgtgggagga tgacccagtc atcattttcc ccatctgcac tgtatttatt
     3481 gggaaattat tttgtcactg ctttcataaa tcttcttcat gacagccctt gcccagcatt
     3541 aaaaaattct ggcctgctta gctgattaaa ggtttagtag aaatttaact gtttgtttat
     3601 gcttatttca ttttcatatt ggattctact tgaataaata aaaagttagc agaa
//
