LOCUS       NM_004113               5353 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens fibroblast growth factor 12 (FGF12), transcript
            variant 2, mRNA.
ACCESSION   NM_004113 XR_108532 XR_112544 XR_113559
VERSION     NM_004113.6
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 5353)
  AUTHORS   Sochacka,M., Karelus,R., Opalinski,L., Krowarsch,D., Biadun,M.,
            Otlewski,J. and Zakrzewska,M.
  TITLE     FGF12 is a novel component of the nucleolar NOLC1/TCOF1 ribosome
            biogenesis complex
  JOURNAL   Cell Commun Signal 20 (1), 182 (2022)
   PUBMED   36411431
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5353)
  AUTHORS   Seiffert,S., Pendziwiat,M., Bierhals,T., Goel,H., Schwarz,N., van
            der Ven,A., Bosselmann,C.M., Lemke,J., Syrbe,S., Willemsen,M.H.,
            Hedrich,U.B.S., Helbig,I. and Weber,Y.
  TITLE     Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being
            associated with developmental and epileptic encephalopathy and
            Autism spectrum disorder: A case series
  JOURNAL   EBioMedicine 83, 104234 (2022)
   PUBMED   36029553
  REMARK    GeneRIF: Modulating effects of FGF12 variants on NaV1.2 and NaV1.6
            being associated with developmental and epileptic encephalopathy
            and Autism spectrum disorder: A case series.
REFERENCE   3  (bases 1 to 5353)
  AUTHORS   Veliskova,J., Marra,C., Liu,Y., Shekhar,A., Park,D.S., Iatckova,V.,
            Xie,Y., Fishman,G.I., Velisek,L. and Goldfarb,M.
  TITLE     Early onset epilepsy and sudden unexpected death in epilepsy with
            cardiac arrhythmia in mice carrying the early infantile epileptic
            encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation
  JOURNAL   Epilepsia 62 (7), 1546-1558 (2021)
   PUBMED   33982289
  REMARK    GeneRIF: Early onset epilepsy and sudden unexpected death in
            epilepsy with cardiac arrhythmia in mice carrying the early
            infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12)
            missense mutation.
REFERENCE   4  (bases 1 to 5353)
  AUTHORS   Mahling,R., Rahlf,C.R., Hansen,S.C., Hayden,M.R. and Shea,M.A.
  TITLE     Ca2+-saturated calmodulin binds tightly to the N-terminal domain of
            A-type fibroblast growth factor homologous factors
  JOURNAL   J Biol Chem 296, 100458 (2021)
   PUBMED   33639159
  REMARK    GeneRIF: Ca(2+)-saturated calmodulin binds tightly to the
            N-terminal domain of A-type fibroblast growth factor homologous
            factors.
REFERENCE   5  (bases 1 to 5353)
  AUTHORS   Kok,L.D., Tsui,S.K., Waye,M., Liew,C.C., Lee,C.Y. and Fung,K.P.
  TITLE     Cloning and characterization of a cDNA encoding a novel fibroblast
            growth factor preferentially expressed in human heart
  JOURNAL   Biochem Biophys Res Commun 255 (3), 717-721 (1999)
   PUBMED   10049777
REFERENCE   6  (bases 1 to 5353)
  AUTHORS   Liu,Y. and Chiu,I.M.
  TITLE     Assignment of FGF12, the human FGF homologous factor 1 gene, to
            chromosome 3q29-->3qter by fluorescence in situ hybridization
  JOURNAL   Cytogenet Cell Genet 78 (1), 48-49 (1997)
   PUBMED   9345906
REFERENCE   7  (bases 1 to 5353)
  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   8  (bases 1 to 5353)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   9  (bases 1 to 5353)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
REFERENCE   10 (bases 1 to 5353)
  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 DA521146.1, AK312513.1 and
            AC128710.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_004113.5.
            
            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. This growth factor lacks the N-terminal signal sequence
            present in most of the FGF family members, but it contains clusters
            of basic residues that have been demonstrated to act as a nuclear
            localization signal. When transfected into mammalian cells, this
            protein accumulated in the nucleus, but was not secreted. The
            specific function of this gene has not yet been determined.
            [provided by RefSeq, Dec 2019].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding region compared to variant 1. The resulting isoform (2)
            contains a distinct and shorter C-terminus, as compared to isoform
            1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: SRR1660803.84586.1,
                                           SRR1803616.12284.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267760 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000445105.7/ ENSP00000393686.1
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-509               DA521146.1         59-567
            510-734             AK312513.1         525-749
            735-5353            AC128710.2         94781-99399
FEATURES             Location/Qualifiers
     source          1..5353
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q28-q29"
     gene            1..5353
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="fibroblast growth factor 12"
                     /db_xref="GeneID:2257"
                     /db_xref="HGNC:HGNC:3668"
                     /db_xref="MIM:601513"
     exon            1..58
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /inference="alignment:Splign:2.1.0"
     exon            59..201
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..734
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     fibroblast growth factor 12B; fibroblast growth factor
                     FGF-12b; fibroblast growth factor homologous factor 1;
                     myocyte-activating factor"
                     /codon_start=1
                     /product="fibroblast growth factor 12 isoform 2"
                     /protein_id="NP_004104.3"
                     /db_xref="CCDS:CCDS46983.1"
                     /db_xref="GeneID:2257"
                     /db_xref="HGNC:HGNC:3668"
                     /db_xref="MIM:601513"
                     /translation="MESKEPQLKGIVTRLFSQQGYFLQMHPDGTIDGTKDENSDYTLF
                     NLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLY
                     RQQESGRAWFLGLNKEGQIMKGNRVKKTKPSSHFVPKPIEVCMYREPSLHEIGEKQGR
                     SRKSSGTPTMNGGKVVNQDST"
     exon            202..312
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /inference="alignment:Splign:2.1.0"
     exon            313..416
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /inference="alignment:Splign:2.1.0"
     exon            417..615
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /inference="alignment:Splign:2.1.0"
     exon            616..5353
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1069..1074
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="hexamer: AATAAA"
     polyA_site      1093
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="major polyA site"
     regulatory      5084..5089
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="hexamer: ATTAAA"
     polyA_site      5107
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
     regulatory      5332..5337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="hexamer: ATTAAA"
     polyA_site      5353
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="major polyA site"
ORIGIN      
        1 actacacctg cagcaccacg ctcggaggac agctcctgcc tgcagcttcc agacccagga
       61 agcctgaggg gaaggaagga agtacgggcg aaatcatcag attggcttcc cagatttggg
      121 aatctgaagc gggcccacat cttccggcca acttccattg aacttcccag cactcgaaag
      181 ggaccgaaat ggagagcaaa gaaccccagc tcaaagggat tgtgacaagg ttattcagcc
      241 agcagggata cttcctgcag atgcacccag atggtaccat tgatgggacc aaggacgaaa
      301 acagcgacta cactctcttc aatctaattc ccgtgggcct gcgtgtagtg gccatccaag
      361 gagtgaaggc tagcctctat gtggccatga atggtgaagg ctatctctac agttcagatg
      421 ttttcactcc agaatgcaaa ttcaaggaat ctgtgtttga aaactactat gtgatctatt
      481 cttccacact gtaccgccag caagaatcag gccgagcttg gtttctggga ctcaataaag
      541 aaggtcaaat tatgaagggg aacagagtga agaaaaccaa gccctcatca cattttgtac
      601 cgaaacctat tgaagtgtgt atgtacagag aaccatcgct acatgaaatt ggagaaaaac
      661 aagggcgttc aaggaaaagt tctggaacac caaccatgaa tggaggcaaa gttgtgaatc
      721 aagattcaac atagctgaga actctcccct tcttccctct ctcatccctt ccccttccct
      781 tccttcccat ttacccattt ccttccagta aatccaccca aggagaggaa aataaaatga
      841 caacgcaaga cctagtggct aagattctgc actcaaaatc ttcctttgtg taggacaaga
      901 aaattgaacc aaagcttgct tgttgcaatg tggtagaaaa ttcacgtgca caaagattag
      961 cacacttaaa agcaaaggaa aaaataaatc agaactccat aaatattaaa ttaaactgta
     1021 ttgttattag tagaaggcta attgtaatga agacattaat aaagatgaaa taaacttatt
     1081 actttaaagg aaaggatttg gagaattgaa ctcacaaact gatgttatat actcaatagc
     1141 ttaaactcat gataatgctg cgatgtgtgg ttttgcttga ttttgtattt tatttgggca
     1201 tctggaattg acacaccatt acattctgtt tgcaggattt tttttgtaac catgaaattg
     1261 aacatttcca aattataaac tatgttaata cctataaaat atatagccag gaaccattta
     1321 tcatcaagaa aagtgtaaga aattattttt gagatgtaat ttaagattgt tttatgtaaa
     1381 aggaaaatct tgtatggcat cgaatagcct taatgagttt aattctttca caaaaatgat
     1441 ttcaaattat cctagagtat aacattttta tcaaagatat tatttccgga gttcttcttt
     1501 ctttcttttt tttttttttt tagtaattta gcaaaaacat tactgttcta atgctgaagt
     1561 gacttttgcc agtgccatgt ccaggtggtg aggtataagt tacttgctct tagcatttgg
     1621 tctgattttt ttgctttgtg gacacctttg agagtatcca caaagcaatg tctcaggtgt
     1681 ggacacctga gagcatgttt tagaaagctt tgtaccctgt cttgtggcag gaaagaaaga
     1741 acaggggttt tacataagga aataagtcct aggaaattag tcaacgcaaa ttgcatttgc
     1801 gtttgtacct taccacagtc ttatattgtt ttttaaactc tgccatgaaa tttggagaca
     1861 tgactgtgaa attcctaact tactatctta caaagccagt agctaatttg ttgctctatg
     1921 tatgatcctg ttacaagtcc agtttgcaat tcatttgttt cctagaacac agaagggtac
     1981 cagtaataca ctaaattttc aaggtgtgta gagaaataat atggaattag cagctatgac
     2041 tccaacagac aggattgtgt gagcagctga aaggagcaaa aaagaactca gtgtaagaga
     2101 aggcacatac atagttaaga atactaaagt atttttaaaa atcaaggaag aaataaatgt
     2161 tacacaattt gcattggaat aaatagatct atttagtcct acaaatcagg agtggtgtag
     2221 agacatccaa atttaaagaa aaaaaaacac aaaacagaat gttaaaaaat gtatgcagat
     2281 ttatggatat tatcaatgag aagacatagc atgtaacttc tcctatatct ctactgtcca
     2341 gcatgtattg ttccaaatat gactccctaa aatatataca ctttgcagaa gctctaggcc
     2401 ctcacctcaa accttgccat tggttgccgt atttcaaggt caatatagtt tccctcactt
     2461 tacacaatca ttattcttca atagtggacc atatccttca ccaggtatcc tatttctgtt
     2521 atctagaggt tagcagaaaa tgaaatgaag gaatttccct aagcagttgg gaagaacaaa
     2581 ttgtatgcat gtaggcaaag attttgaaga tacatttgca agagatattt gtttaaccaa
     2641 aatatttgga aagtaacaaa taaagacatt taaattttct aaaaatggac ttgctcttct
     2701 aggaaaagaa tacccctggg gcaaaaatat aactctagct gtatttcttc ttgtcactct
     2761 tgattcaact tgattataaa tacacctgtc actaccagaa ccaaaaaaaa aaagaaaaaa
     2821 atcccaagca caaagcttat tttatttgaa aaaaataaaa aagaaacttc aacactatgg
     2881 gacactggct cttttagcat gaaatgactt gagcttttgt agtgatgata cacatacaca
     2941 ctcatcagta aaacgatggt ttcataaata acacaattga tgcaaatcat aaaaatcaat
     3001 tacaattatg atttcatgac aaaatatatt taattaagtt tgttatgaaa aaaatagaga
     3061 tatgaatcac taacaaaatt cctccatttt cagtggctat tcatcattta tcatctagac
     3121 tcacatttgt ctccttcctg atagcagtta agaaaaaatt ctaaccacac aatttgtata
     3181 ttgtttttct ccgtattatg ttaagcaaat gttcactgca gtaaaatgtt ttggaaatta
     3241 gctttgtctt atttccagtt tagttcagag aattaattgg aaacctgatt tcttttacac
     3301 ataaacctga caaaaaatgt agcttagagc aaagggtgaa tgtttgctta actcctgctt
     3361 acttctcaag tacatgaaaa ctttaataga atatgccagt attcactgag tttttaaaaa
     3421 tattaccatg tgtaaacata taatatccaa cttcatccaa aaatatggtt gagtttaagt
     3481 actttgtttt tcaggcttat ttcaagtata ataattcttt gattttcatt gttctgattt
     3541 ctgggtcttc aattcattcg tcacttttcc tttttaagta aaataagctt tttttttttt
     3601 tttttttttt ttttggagtt gcattgggat ttttcccagg aaaaaatatg gcttttagta
     3661 atgctttgca attggctacg cagatataaa ttaagatatg tttattctga gttcttattg
     3721 gaataagttt caaaatcaac gagcttaaga atgaaaacaa aacttttgag agtctcacaa
     3781 aatagctttc tggtcaatac accttacttg atttttaagc tcgcagaata aagtatagaa
     3841 acaaatggag ctgaagttcc atttgctaat tcagagactt ttgtgcttcc gcaaattgga
     3901 gggcagcaag ccatcctatt ctcatagtaa tcgttttggc tttgaaattt acatacaatt
     3961 taatagcaca tttttagcca ttatggattg gcgcaataaa gagatatcaa tgtaatgcaa
     4021 tgtgatgctt tatgggcctc attctaattc agaaagcttg tttaaaagaa ctaagactct
     4081 tctgtttaat aaaatagcaa caatctaata tctagattgg tagtcctgcg gtgccactag
     4141 tgggagatga gagtattaag acaagagtaa ggacaaggaa agacttaaag gttgcatatt
     4201 gaaaagtttg gaattcctaa tttgggagca ctgatttctt ggtgaagaag taagtatgac
     4261 tacgttgcca gtaatttttt aaaaacatag acccagaaat agcaaatcga tttcaccctc
     4321 ataccttagt ctacaaggcc ttgctcttga gaaggttttc catgatattg cttaatttca
     4381 tctgcacaag atgagacaca aacataaaaa ttccctgctc attttaatac cataaaaggc
     4441 tgaggttatt tctctgtcat aaaattgtaa atagcatttt ttaagtcaaa attacattta
     4501 aaacagtgga ttgttctaca aatatatatg tgtatatata catatgcttc tgaaataagg
     4561 atatattata tgagttttta tttgatttgt ggtctttagt cataggtaat caaaaataaa
     4621 gagatttgaa tgcaaaactt tatacattaa tgtacatttc taatgatggt acaaattgcc
     4681 actttataat aaaaaagaaa caggtgggaa taataatcaa agcacgtgtt ccttcagtac
     4741 tttggtgatt tttaatcccc cttgtgatgc acaggaaatt attttttagt tacaaaaagt
     4801 tatcttagaa atctatactt cccaatacag atttcatgtt aagtcatatc aaattgagaa
     4861 tttgtggtga aagaatagga aaaggatgct agatgctgat ctttcttttt caggattttt
     4921 cctggagccc aagttaaaaa ttcaatactt aaatctaagt taagtgaaaa ttaataatgt
     4981 tcagaatgat gtattgagct ttagtaacag acggaagcaa aaaaaaataa gaatatttaa
     5041 cattatgata atagccttaa aataatgtaa taaaaattgc atcattaaat gttctattag
     5101 ttggaaagaa tgagctgatg tttctttgtc tttgctccaa gtacaattta aagacagtga
     5161 cattcatttt acttaaaatt gttcaaaaag tccaaaacat actcccatgg ctagaattgg
     5221 tattagctcc aatacaaggt taaatgttac aatcttaaga aattattgac actgaaatgt
     5281 ttagtaaaca tgttgtatga gaaactaaac aaattaatgt ttcatttttc cattaaagca
     5341 cagattattc aaa
//
