LOCUS       NM_001321931            2984 bp    mRNA    linear   PRI 29-JAN-2025
DEFINITION  Homo sapiens fibroblast growth factor 14 (FGF14), transcript
            variant 3, mRNA.
ACCESSION   NM_001321931
VERSION     NM_001321931.1
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 2984)
  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 2984)
  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 2984)
  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 2984)
  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 2984)
  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 2984)
  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 2984)
  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 2984)
  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 2984)
  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 2984)
  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 AL356266.9, AL161899.21,
            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##
            CDS exon combination :: SRR1660807.234257.1, SRR1660809.109812.1
                                    [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1968968,
                                    SAMEA2142586 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-216               AL356266.9         53306-53521         c
            217-457             AL161899.21        95839-96079         c
            458-568             AL512629.7         6849-6959           c
            569-672             AL591909.5         55273-55376         c
            673-871             AL160153.11        58767-58965         c
            872-2984            AL160153.11        53010-55122         c
FEATURES             Location/Qualifiers
     source          1..2984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     gene            1..2984
                     /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..216
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            217..457
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            458..568
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     CDS             517..1008
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="isoform 2 is encoded by transcript variant 3;
                     fibroblast growth factor homologous factor 4; nystagmus 4,
                     congenital autosomal dominant"
                     /codon_start=1
                     /product="fibroblast growth factor 14 isoform 2"
                     /protein_id="NP_001308860.1"
                     /db_xref="GeneID:2259"
                     /db_xref="HGNC:HGNC:3671"
                     /db_xref="MIM:601515"
                     /translation="MHPDGALDGTKDDSTNSTLFNLIPVGLRVVAIQGVKTGLYIAMN
                     GEGYLYPSELFTPECKFKESVFENYYVIYSSMLYRQQESGRAWFLGLNKEGQAMKGNR
                     VKKTKPAAHFLPKPLEVAMYREPSLHDVGETVPKPGVTPSKSTSASAIMNGGKPVNKS
                     KTT"
     exon            569..672
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            673..871
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            872..2984
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2895..2900
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="hexamer: ATTAAA"
     polyA_site      2918
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="major polyA site"
     regulatory      2963..2968
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="hexamer: AATAAA"
     regulatory      2967..2972
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="hexamer: AATAAA"
     polyA_site      2981
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
     polyA_site      2984
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
ORIGIN      
        1 agagagagag agagagagag agagagagag agagaaacgg gaagagagag acagaaagga
       61 aagaaggttt tattccttgc ctccctctat ctcctggccc agaaagacac ttttcagtcc
      121 cttgtgggca caaactctga agacagatac aacaaagatg catatggaag ctcagctcat
      181 acttaaagca aaaagacttc attctaattt caaaaattag atgagatcat gtgactggat
      241 ccctcatgat gagatgagtg cccccaaaag aagacaccag agagcttgct tctcattcca
      301 cacgcatgct ccaaagaaag gccatggcag agcacagaga gaaggagagc tcccaccaga
      361 acctggcaaa gtgtgctgct ggcatgcttg tctcataatt ctgccctcca ggactgtgag
      421 aaaataagtt tctgttgctt aaaccaccta gtctatgatc cccagctcaa gggtatagtg
      481 accaggttat attgcaggca aggctactac ttgcaaatgc accccgatgg agctctcgat
      541 ggaaccaagg atgacagcac taattctaca ctcttcaacc tcataccagt gggactacgt
      601 gttgttgcca tccagggagt gaaaacaggg ttgtatatag ccatgaatgg agaaggttac
      661 ctctacccat cagaactttt tacccctgaa tgcaagttta aagaatctgt ttttgaaaat
      721 tattatgtaa tctactcatc catgttgtac agacaacagg aatctggtag agcctggttt
      781 ttgggattaa ataaggaagg gcaagctatg aaagggaaca gagtaaagaa aaccaaacca
      841 gcagctcatt ttctacccaa gccattggaa gttgccatgt accgagaacc atctttgcat
      901 gatgttgggg aaacggtccc gaagcctggg gtgacgccaa gtaaaagcac aagtgcgtct
      961 gcaataatga atggaggcaa accagtcaac aagagtaaga caacatagcc agatcctcac
     1021 aggtgttgtg acttattcgt cctgagcaca gttgagtgat ttatcctcac cagacattcc
     1081 tgctccgtgg ctgaagagca gcaggaagta agctaatgct tattctttgc tgtctccgaa
     1141 cttctctgtt gcaagtggat aaatctcaac ctgttgcacc ccccacaaca agaagacacc
     1201 tggataacca gctaaactca gaccatggaa tgccctacca gatatggaat gcctttttaa
     1261 tatcttttct gtgactgtga cacttcatgt gaatgacata cttcacaagt acactcgata
     1321 ccttgcctgc tgacagctac ccataatcct ttttgagtcc tgtttcagcg aaatctatgt
     1381 gtttaagttc aattttgtag cacacaaata atattgagta atttctagtt agacgctgta
     1441 aacctgtgct attacggatt tctcttcttc ccatttttac agggctgctc gctccactgt
     1501 ctgtgacctt ttgcagggat tttgttcctc taaatcttaa atgttgcagt tggcttaggt
     1561 cggagagcaa tcagggaatc aggaagcctt ctaaacctat tattacaaat tgcatctata
     1621 aagaaagatt aagaaagatt gttgtctctg gctcacacta tcgattaaac acacatatac
     1681 gctctgtcca gtagcagata ctgtgctccc aaggtcggca ttgcctgggt gggaaatggc
     1741 tcaaacacaa tccagggaag ctctctatga tatgtgtttg acatccccct ctagtttctt
     1801 tgtgtgtgtg tgttttatac atatcacaag cttactggta atggtaacat ttgccttgcc
     1861 cagcgagcaa gacccactgg tttttgagaa agtgggtcca aagatttctg taggccttgt
     1921 aggcctgatt aaggttcatt tttcatctat taattctcat tatttggaaa aaaaaaaaaa
     1981 ggaaaatcag taattataac ctacaagaat tgcgctacct aaatccattt cagatatact
     2041 ccgtcctgtt tttaatgaac caaacttaac gccatccccg tttctggctg cgttcccctc
     2101 atactcagca gagcatgggc aagacggctg ttgtgttctt tcctgcagca gcaatgcaaa
     2161 cgttagttat aaattaatta gactttaata tttttggtgt ttaatgacaa gtttttaaac
     2221 tggacatatt aggaaaaata ttttttttag ctcagcatgc tgagtccggt actgtgtatt
     2281 tcaccagtac atgcctctag ctcagcatct ggggctcatg ttgcccagtg gctgggttag
     2341 aggtgccttg ccatgatctc agaatacagt ctgttgaatt atcctagatg aaaataaagg
     2401 caaaccaaca cattcatcca tgaggatttt ggtccattcc atttattttc ttttattttg
     2461 cattcttaat ttccttttta gtttaacact gtttgtttga gcttagggaa gacaactacc
     2521 aagaaaggcc aggaacagtt gactacacaa tgaagattcc atgcaaaatg ttcaatattg
     2581 gatctaaagg ggttcaaaat gtttcatact aaactgtttg ggaatttatt tgttaactct
     2641 gtgtacacct aataaaattc aatgttttct tctcagaaga gttcattgag accaaactga
     2701 acctcattta ttgaaaatta tatgtgggat caatgtactg gcctcttgtt attctttcta
     2761 tgtgggagga tgacccagtc atcattttcc ccatctgcac tgtatttatt gggaaattat
     2821 tttgtcactg ctttcataaa tcttcttcat gacagccctt gcccagcatt aaaaaattct
     2881 ggcctgctta gctgattaaa ggtttagtag aaatttaact gtttgtttat gcttatttca
     2941 ttttcatatt ggattctact tgaataaata aaaagttagc agaa
//
