LOCUS       NM_001377293            5210 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens fibroblast growth factor 12 (FGF12), transcript
            variant 4, mRNA.
ACCESSION   NM_001377293
VERSION     NM_001377293.1
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 5210)
  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 5210)
  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 5210)
  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 5210)
  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 5210)
  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 5210)
  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 5210)
  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 5210)
  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 5210)
  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 5210)
  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 AC079623.15, AC073363.10 and
            AC128710.2.
            
            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 (4), as well as variant 5, encodes
            isoform 4.
            
            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 :: SRR1803616.249797.1, DA515971.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267760 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                AC079623.15        154714-154771       c
            59-169              AC073363.10        61365-61475
            170-273             AC073363.10        86439-86542
            274-472             AC128710.2         68133-68331
            473-5210            AC128710.2         94662-99399
FEATURES             Location/Qualifiers
     source          1..5210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q28-q29"
     gene            1..5210
                     /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..169
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             118..591
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="isoform 4 is encoded by transcript variant 4;
                     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 4"
                     /protein_id="NP_001364222.1"
                     /db_xref="CCDS:CCDS93436.1"
                     /db_xref="GeneID:2257"
                     /db_xref="HGNC:HGNC:3668"
                     /db_xref="MIM:601513"
                     /translation="MHPDGTIDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMN
                     GEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQIMKGNR
                     VKKTKPSSHFVPKPIEVCMYREPSLHEIGEKQGRSRKSSGTPTMNGGKVVNQDST"
     exon            170..273
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /inference="alignment:Splign:2.1.0"
     exon            274..472
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /inference="alignment:Splign:2.1.0"
     exon            473..5210
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      926..931
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="hexamer: AATAAA"
     polyA_site      950
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="major polyA site"
     regulatory      4941..4946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="hexamer: ATTAAA"
     polyA_site      4964
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
     regulatory      5189..5194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="hexamer: ATTAAA"
     polyA_site      5210
                     /gene="FGF12"
                     /gene_synonym="DEE47; EIEE47; FGF12B; FHF1"
                     /note="major polyA site"
ORIGIN      
        1 actacacctg cagcaccacg ctcggaggac agctcctgcc tgcagcttcc agacccagaa
       61 ccccagctca aagggattgt gacaaggtta ttcagccagc agggatactt cctgcagatg
      121 cacccagatg gtaccattga tgggaccaag gacgaaaaca gcgactacac tctcttcaat
      181 ctaattcccg tgggcctgcg tgtagtggcc atccaaggag tgaaggctag cctctatgtg
      241 gccatgaatg gtgaaggcta tctctacagt tcagatgttt tcactccaga atgcaaattc
      301 aaggaatctg tgtttgaaaa ctactatgtg atctattctt ccacactgta ccgccagcaa
      361 gaatcaggcc gagcttggtt tctgggactc aataaagaag gtcaaattat gaaggggaac
      421 agagtgaaga aaaccaagcc ctcatcacat tttgtaccga aacctattga agtgtgtatg
      481 tacagagaac catcgctaca tgaaattgga gaaaaacaag ggcgttcaag gaaaagttct
      541 ggaacaccaa ccatgaatgg aggcaaagtt gtgaatcaag attcaacata gctgagaact
      601 ctccccttct tccctctctc atcccttccc cttcccttcc ttcccattta cccatttcct
      661 tccagtaaat ccacccaagg agaggaaaat aaaatgacaa cgcaagacct agtggctaag
      721 attctgcact caaaatcttc ctttgtgtag gacaagaaaa ttgaaccaaa gcttgcttgt
      781 tgcaatgtgg tagaaaattc acgtgcacaa agattagcac acttaaaagc aaaggaaaaa
      841 ataaatcaga actccataaa tattaaatta aactgtattg ttattagtag aaggctaatt
      901 gtaatgaaga cattaataaa gatgaaataa acttattact ttaaaggaaa ggatttggag
      961 aattgaactc acaaactgat gttatatact caatagctta aactcatgat aatgctgcga
     1021 tgtgtggttt tgcttgattt tgtattttat ttgggcatct ggaattgaca caccattaca
     1081 ttctgtttgc aggatttttt ttgtaaccat gaaattgaac atttccaaat tataaactat
     1141 gttaatacct ataaaatata tagccaggaa ccatttatca tcaagaaaag tgtaagaaat
     1201 tatttttgag atgtaattta agattgtttt atgtaaaagg aaaatcttgt atggcatcga
     1261 atagccttaa tgagtttaat tctttcacaa aaatgatttc aaattatcct agagtataac
     1321 atttttatca aagatattat ttccggagtt cttctttctt tctttttttt ttttttttag
     1381 taatttagca aaaacattac tgttctaatg ctgaagtgac ttttgccagt gccatgtcca
     1441 ggtggtgagg tataagttac ttgctcttag catttggtct gatttttttg ctttgtggac
     1501 acctttgaga gtatccacaa agcaatgtct caggtgtgga cacctgagag catgttttag
     1561 aaagctttgt accctgtctt gtggcaggaa agaaagaaca ggggttttac ataaggaaat
     1621 aagtcctagg aaattagtca acgcaaattg catttgcgtt tgtaccttac cacagtctta
     1681 tattgttttt taaactctgc catgaaattt ggagacatga ctgtgaaatt cctaacttac
     1741 tatcttacaa agccagtagc taatttgttg ctctatgtat gatcctgtta caagtccagt
     1801 ttgcaattca tttgtttcct agaacacaga agggtaccag taatacacta aattttcaag
     1861 gtgtgtagag aaataatatg gaattagcag ctatgactcc aacagacagg attgtgtgag
     1921 cagctgaaag gagcaaaaaa gaactcagtg taagagaagg cacatacata gttaagaata
     1981 ctaaagtatt tttaaaaatc aaggaagaaa taaatgttac acaatttgca ttggaataaa
     2041 tagatctatt tagtcctaca aatcaggagt ggtgtagaga catccaaatt taaagaaaaa
     2101 aaaacacaaa acagaatgtt aaaaaatgta tgcagattta tggatattat caatgagaag
     2161 acatagcatg taacttctcc tatatctcta ctgtccagca tgtattgttc caaatatgac
     2221 tccctaaaat atatacactt tgcagaagct ctaggccctc acctcaaacc ttgccattgg
     2281 ttgccgtatt tcaaggtcaa tatagtttcc ctcactttac acaatcatta ttcttcaata
     2341 gtggaccata tccttcacca ggtatcctat ttctgttatc tagaggttag cagaaaatga
     2401 aatgaaggaa tttccctaag cagttgggaa gaacaaattg tatgcatgta ggcaaagatt
     2461 ttgaagatac atttgcaaga gatatttgtt taaccaaaat atttggaaag taacaaataa
     2521 agacatttaa attttctaaa aatggacttg ctcttctagg aaaagaatac ccctggggca
     2581 aaaatataac tctagctgta tttcttcttg tcactcttga ttcaacttga ttataaatac
     2641 acctgtcact accagaacca aaaaaaaaaa gaaaaaaatc ccaagcacaa agcttatttt
     2701 atttgaaaaa aataaaaaag aaacttcaac actatgggac actggctctt ttagcatgaa
     2761 atgacttgag cttttgtagt gatgatacac atacacactc atcagtaaaa cgatggtttc
     2821 ataaataaca caattgatgc aaatcataaa aatcaattac aattatgatt tcatgacaaa
     2881 atatatttaa ttaagtttgt tatgaaaaaa atagagatat gaatcactaa caaaattcct
     2941 ccattttcag tggctattca tcatttatca tctagactca catttgtctc cttcctgata
     3001 gcagttaaga aaaaattcta accacacaat ttgtatattg tttttctccg tattatgtta
     3061 agcaaatgtt cactgcagta aaatgttttg gaaattagct ttgtcttatt tccagtttag
     3121 ttcagagaat taattggaaa cctgatttct tttacacata aacctgacaa aaaatgtagc
     3181 ttagagcaaa gggtgaatgt ttgcttaact cctgcttact tctcaagtac atgaaaactt
     3241 taatagaata tgccagtatt cactgagttt ttaaaaatat taccatgtgt aaacatataa
     3301 tatccaactt catccaaaaa tatggttgag tttaagtact ttgtttttca ggcttatttc
     3361 aagtataata attctttgat tttcattgtt ctgatttctg ggtcttcaat tcattcgtca
     3421 cttttccttt ttaagtaaaa taagcttttt tttttttttt tttttttttt tggagttgca
     3481 ttgggatttt tcccaggaaa aaatatggct tttagtaatg ctttgcaatt ggctacgcag
     3541 atataaatta agatatgttt attctgagtt cttattggaa taagtttcaa aatcaacgag
     3601 cttaagaatg aaaacaaaac ttttgagagt ctcacaaaat agctttctgg tcaatacacc
     3661 ttacttgatt tttaagctcg cagaataaag tatagaaaca aatggagctg aagttccatt
     3721 tgctaattca gagacttttg tgcttccgca aattggaggg cagcaagcca tcctattctc
     3781 atagtaatcg ttttggcttt gaaatttaca tacaatttaa tagcacattt ttagccatta
     3841 tggattggcg caataaagag atatcaatgt aatgcaatgt gatgctttat gggcctcatt
     3901 ctaattcaga aagcttgttt aaaagaacta agactcttct gtttaataaa atagcaacaa
     3961 tctaatatct agattggtag tcctgcggtg ccactagtgg gagatgagag tattaagaca
     4021 agagtaagga caaggaaaga cttaaaggtt gcatattgaa aagtttggaa ttcctaattt
     4081 gggagcactg atttcttggt gaagaagtaa gtatgactac gttgccagta attttttaaa
     4141 aacatagacc cagaaatagc aaatcgattt caccctcata ccttagtcta caaggccttg
     4201 ctcttgagaa ggttttccat gatattgctt aatttcatct gcacaagatg agacacaaac
     4261 ataaaaattc cctgctcatt ttaataccat aaaaggctga ggttatttct ctgtcataaa
     4321 attgtaaata gcatttttta agtcaaaatt acatttaaaa cagtggattg ttctacaaat
     4381 atatatgtgt atatatacat atgcttctga aataaggata tattatatga gtttttattt
     4441 gatttgtggt ctttagtcat aggtaatcaa aaataaagag atttgaatgc aaaactttat
     4501 acattaatgt acatttctaa tgatggtaca aattgccact ttataataaa aaagaaacag
     4561 gtgggaataa taatcaaagc acgtgttcct tcagtacttt ggtgattttt aatccccctt
     4621 gtgatgcaca ggaaattatt ttttagttac aaaaagttat cttagaaatc tatacttccc
     4681 aatacagatt tcatgttaag tcatatcaaa ttgagaattt gtggtgaaag aataggaaaa
     4741 ggatgctaga tgctgatctt tctttttcag gatttttcct ggagcccaag ttaaaaattc
     4801 aatacttaaa tctaagttaa gtgaaaatta ataatgttca gaatgatgta ttgagcttta
     4861 gtaacagacg gaagcaaaaa aaaataagaa tatttaacat tatgataata gccttaaaat
     4921 aatgtaataa aaattgcatc attaaatgtt ctattagttg gaaagaatga gctgatgttt
     4981 ctttgtcttt gctccaagta caatttaaag acagtgacat tcattttact taaaattgtt
     5041 caaaaagtcc aaaacatact cccatggcta gaattggtat tagctccaat acaaggttaa
     5101 atgttacaat cttaagaaat tattgacact gaaatgttta gtaaacatgt tgtatgagaa
     5161 actaaacaaa ttaatgtttc atttttccat taaagcacag attattcaaa
//
