LOCUS       NM_001321935            2596 bp    mRNA    linear   PRI 29-JAN-2025
DEFINITION  Homo sapiens fibroblast growth factor 14 (FGF14), transcript
            variant 7, mRNA.
ACCESSION   NM_001321935
VERSION     NM_001321935.1
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 2596)
  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 2596)
  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 2596)
  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 2596)
  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 2596)
  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 2596)
  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 2596)
  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 2596)
  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 2596)
  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 2596)
  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, 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       :: mixed sample support SAMEA1968968,
                                    SAMEA2142586 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-69                AL356266.9         60471-60539         c
            70-180              AL512629.7         6849-6959           c
            181-284             AL591909.5         55273-55376         c
            285-483             AL160153.11        58767-58965         c
            484-2596            AL160153.11        53010-55122         c
FEATURES             Location/Qualifiers
     source          1..2596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     gene            1..2596
                     /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..69
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            70..180
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..620
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="isoform 2 is encoded by transcript variant 7;
                     fibroblast growth factor homologous factor 4; nystagmus 4,
                     congenital autosomal dominant"
                     /codon_start=1
                     /product="fibroblast growth factor 14 isoform 2"
                     /protein_id="NP_001308864.1"
                     /db_xref="GeneID:2259"
                     /db_xref="HGNC:HGNC:3671"
                     /db_xref="MIM:601515"
                     /translation="MHPDGALDGTKDDSTNSTLFNLIPVGLRVVAIQGVKTGLYIAMN
                     GEGYLYPSELFTPECKFKESVFENYYVIYSSMLYRQQESGRAWFLGLNKEGQAMKGNR
                     VKKTKPAAHFLPKPLEVAMYREPSLHDVGETVPKPGVTPSKSTSASAIMNGGKPVNKS
                     KTT"
     exon            181..284
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            285..483
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     exon            484..2596
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2507..2512
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="hexamer: ATTAAA"
     polyA_site      2530
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="major polyA site"
     regulatory      2575..2580
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="hexamer: AATAAA"
     regulatory      2579..2584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /note="hexamer: AATAAA"
     polyA_site      2593
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
     polyA_site      2596
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
ORIGIN      
        1 gggcgggtcc tgtccaggac tgagggatct gctgctctcc ttggttctca gcttactcaa
       61 gcctctcaaa tccccagctc aagggtatag tgaccaggtt atattgcagg caaggctact
      121 acttgcaaat gcaccccgat ggagctctcg atggaaccaa ggatgacagc actaattcta
      181 cactcttcaa cctcatacca gtgggactac gtgttgttgc catccaggga gtgaaaacag
      241 ggttgtatat agccatgaat ggagaaggtt acctctaccc atcagaactt tttacccctg
      301 aatgcaagtt taaagaatct gtttttgaaa attattatgt aatctactca tccatgttgt
      361 acagacaaca ggaatctggt agagcctggt ttttgggatt aaataaggaa gggcaagcta
      421 tgaaagggaa cagagtaaag aaaaccaaac cagcagctca ttttctaccc aagccattgg
      481 aagttgccat gtaccgagaa ccatctttgc atgatgttgg ggaaacggtc ccgaagcctg
      541 gggtgacgcc aagtaaaagc acaagtgcgt ctgcaataat gaatggaggc aaaccagtca
      601 acaagagtaa gacaacatag ccagatcctc acaggtgttg tgacttattc gtcctgagca
      661 cagttgagtg atttatcctc accagacatt cctgctccgt ggctgaagag cagcaggaag
      721 taagctaatg cttattcttt gctgtctccg aacttctctg ttgcaagtgg ataaatctca
      781 acctgttgca ccccccacaa caagaagaca cctggataac cagctaaact cagaccatgg
      841 aatgccctac cagatatgga atgccttttt aatatctttt ctgtgactgt gacacttcat
      901 gtgaatgaca tacttcacaa gtacactcga taccttgcct gctgacagct acccataatc
      961 ctttttgagt cctgtttcag cgaaatctat gtgtttaagt tcaattttgt agcacacaaa
     1021 taatattgag taatttctag ttagacgctg taaacctgtg ctattacgga tttctcttct
     1081 tcccattttt acagggctgc tcgctccact gtctgtgacc ttttgcaggg attttgttcc
     1141 tctaaatctt aaatgttgca gttggcttag gtcggagagc aatcagggaa tcaggaagcc
     1201 ttctaaacct attattacaa attgcatcta taaagaaaga ttaagaaaga ttgttgtctc
     1261 tggctcacac tatcgattaa acacacatat acgctctgtc cagtagcaga tactgtgctc
     1321 ccaaggtcgg cattgcctgg gtgggaaatg gctcaaacac aatccaggga agctctctat
     1381 gatatgtgtt tgacatcccc ctctagtttc tttgtgtgtg tgtgttttat acatatcaca
     1441 agcttactgg taatggtaac atttgccttg cccagcgagc aagacccact ggtttttgag
     1501 aaagtgggtc caaagatttc tgtaggcctt gtaggcctga ttaaggttca tttttcatct
     1561 attaattctc attatttgga aaaaaaaaaa aaggaaaatc agtaattata acctacaaga
     1621 attgcgctac ctaaatccat ttcagatata ctccgtcctg tttttaatga accaaactta
     1681 acgccatccc cgtttctggc tgcgttcccc tcatactcag cagagcatgg gcaagacggc
     1741 tgttgtgttc tttcctgcag cagcaatgca aacgttagtt ataaattaat tagactttaa
     1801 tatttttggt gtttaatgac aagtttttaa actggacata ttaggaaaaa tatttttttt
     1861 agctcagcat gctgagtccg gtactgtgta tttcaccagt acatgcctct agctcagcat
     1921 ctggggctca tgttgcccag tggctgggtt agaggtgcct tgccatgatc tcagaataca
     1981 gtctgttgaa ttatcctaga tgaaaataaa ggcaaaccaa cacattcatc catgaggatt
     2041 ttggtccatt ccatttattt tcttttattt tgcattctta atttcctttt tagtttaaca
     2101 ctgtttgttt gagcttaggg aagacaacta ccaagaaagg ccaggaacag ttgactacac
     2161 aatgaagatt ccatgcaaaa tgttcaatat tggatctaaa ggggttcaaa atgtttcata
     2221 ctaaactgtt tgggaattta tttgttaact ctgtgtacac ctaataaaat tcaatgtttt
     2281 cttctcagaa gagttcattg agaccaaact gaacctcatt tattgaaaat tatatgtggg
     2341 atcaatgtac tggcctcttg ttattctttc tatgtgggag gatgacccag tcatcatttt
     2401 ccccatctgc actgtattta ttgggaaatt attttgtcac tgctttcata aatcttcttc
     2461 atgacagccc ttgcccagca ttaaaaaatt ctggcctgct tagctgatta aaggtttagt
     2521 agaaatttaa ctgtttgttt atgcttattt cattttcata ttggattcta cttgaataaa
     2581 taaaaagtta gcagaa
//
