LOCUS       NM_207322               3445 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens C2 calcium dependent domain containing 4A (C2CD4A),
            mRNA.
ACCESSION   NM_207322
VERSION     NM_207322.3
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 3445)
  AUTHORS   Han,F., Qian,L., Zhang,Y., Liu,P., Li,R. and Chen,M.
  TITLE     C2CD4A/B variants in the predisposition of lung cancer in the
            Chinese Han population
  JOURNAL   Funct Integr Genomics 22 (3), 331-340 (2022)
   PUBMED   35212842
  REMARK    GeneRIF: C2CD4A/B variants in the predisposition of lung cancer in
            the Chinese Han population.
REFERENCE   2  (bases 1 to 3445)
  AUTHORS   Kuo,T., Kraakman,M.J., Damle,M., Gill,R., Lazar,M.A. and Accili,D.
  TITLE     Identification of C2CD4A as a human diabetes susceptibility gene
            with a role in beta cell insulin secretion
  JOURNAL   Proc Natl Acad Sci U S A 116 (40), 20033-20042 (2019)
   PUBMED   31527256
  REMARK    GeneRIF: C2CD4A is a transcriptional coregulator of the glycolytic
            pathway whose dysfunction accounts for the diabetes susceptibility
            associated with the chromosome 15 GWAS locus.
REFERENCE   3  (bases 1 to 3445)
  AUTHORS   Kycia,I., Wolford,B.N., Huyghe,J.R., Fuchsberger,C., Vadlamudi,S.,
            Kursawe,R., Welch,R.P., Albanus,R.D., Uyar,A., Khetan,S.,
            Lawlor,N., Bolisetty,M., Mathur,A., Kuusisto,J., Laakso,M.,
            Ucar,D., Mohlke,K.L., Boehnke,M., Collins,F.S., Parker,S.C.J. and
            Stitzel,M.L.
  TITLE     A Common Type 2 Diabetes Risk Variant Potentiates Activity of an
            Evolutionarily Conserved Islet Stretch Enhancer and Increases
            C2CD4A and C2CD4B Expression
  JOURNAL   Am J Hum Genet 102 (4), 620-635 (2018)
   PUBMED   29625024
  REMARK    GeneRIF: rs7163757 contributes to genetic risk of islet dysfunction
            and type 2 diabetes by increasing NFAT-mediated islet enhancer
            activity and modulating C2CD4B, and possibly C2CD4A, expression in
            (patho)physiologic states.
REFERENCE   4  (bases 1 to 3445)
  AUTHORS   Wang,Y. and Tatakis,D.N.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: C2CD4A expression is significantly upregulated in human
            masticatory mucosa during wound healing
REFERENCE   5  (bases 1 to 3445)
  AUTHORS   Mehta,Z.B., Fine,N., Pullen,T.J., Cane,M.C., Hu,M., Chabosseau,P.,
            Meur,G., Velayos-Baeza,A., Monaco,A.P., Marselli,L., Marchetti,P.
            and Rutter,G.A.
  TITLE     Changes in the expression of the type 2 diabetes-associated gene
            VPS13C in the beta-cell are associated with glucose intolerance in
            humans and mice
  JOURNAL   Am J Physiol Endocrinol Metab 311 (2), E488-E507 (2016)
   PUBMED   27329800
  REMARK    GeneRIF: The present data thus provide evidence for a limited role
            for changes in VPS13C expression in conferring altered type 2
            diabetes risk at this locus, particularly in females, and suggest
            that C2CD4A, but not C2CD4B, may also be involved.
REFERENCE   6  (bases 1 to 3445)
  AUTHORS   Cui,B., Zhu,X., Xu,M., Guo,T., Zhu,D., Chen,G., Li,X., Xu,L.,
            Bi,Y., Chen,Y., Xu,Y., Li,X., Wang,W., Wang,H., Huang,W. and
            Ning,G.
  TITLE     A genome-wide association study confirms previously reported loci
            for type 2 diabetes in Han Chinese
  JOURNAL   PLoS One 6 (7), e22353 (2011)
   PUBMED   21799836
REFERENCE   7  (bases 1 to 3445)
  AUTHORS   Lango Allen,H., Estrada,K., Lettre,G., Berndt,S.I., Weedon,M.N.,
            Rivadeneira,F., Willer,C.J., Jackson,A.U., Vedantam,S.,
            Raychaudhuri,S., Ferreira,T., Wood,A.R., Weyant,R.J., Segre,A.V.,
            Speliotes,E.K., Wheeler,E., Soranzo,N., Park,J.H., Yang,J.,
            Gudbjartsson,D., Heard-Costa,N.L., Randall,J.C., Qi,L., Vernon
            Smith,A., Magi,R., Pastinen,T., Liang,L., Heid,I.M., Luan,J.,
            Thorleifsson,G., Winkler,T.W., Goddard,M.E., Sin Lo,K., Palmer,C.,
            Workalemahu,T., Aulchenko,Y.S., Johansson,A., Zillikens,M.C.,
            Feitosa,M.F., Esko,T., Johnson,T., Ketkar,S., Kraft,P., Mangino,M.,
            Prokopenko,I., Absher,D., Albrecht,E., Ernst,F., Glazer,N.L.,
            Hayward,C., Hottenga,J.J., Jacobs,K.B., Knowles,J.W., Kutalik,Z.,
            Monda,K.L., Polasek,O., Preuss,M., Rayner,N.W., Robertson,N.R.,
            Steinthorsdottir,V., Tyrer,J.P., Voight,B.F., Wiklund,F., Xu,J.,
            Zhao,J.H., Nyholt,D.R., Pellikka,N., Perola,M., Perry,J.R.,
            Surakka,I., Tammesoo,M.L., Altmaier,E.L., Amin,N., Aspelund,T.,
            Bhangale,T., Boucher,G., Chasman,D.I., Chen,C., Coin,L.,
            Cooper,M.N., Dixon,A.L., Gibson,Q., Grundberg,E., Hao,K., Juhani
            Junttila,M., Kaplan,L.M., Kettunen,J., Konig,I.R., Kwan,T.,
            Lawrence,R.W., Levinson,D.F., Lorentzon,M., McKnight,B.,
            Morris,A.P., Muller,M., Suh Ngwa,J., Purcell,S., Rafelt,S.,
            Salem,R.M., Salvi,E., Sanna,S., Shi,J., Sovio,U., Thompson,J.R.,
            Turchin,M.C., Vandenput,L., Verlaan,D.J., Vitart,V., White,C.C.,
            Ziegler,A., Almgren,P., Balmforth,A.J., Campbell,H., Citterio,L.,
            De Grandi,A., Dominiczak,A., Duan,J., Elliott,P., Elosua,R.,
            Eriksson,J.G., Freimer,N.B., Geus,E.J., Glorioso,N., Haiqing,S.,
            Hartikainen,A.L., Havulinna,A.S., Hicks,A.A., Hui,J., Igl,W.,
            Illig,T., Jula,A., Kajantie,E., Kilpelainen,T.O., Koiranen,M.,
            Kolcic,I., Koskinen,S., Kovacs,P., Laitinen,J., Liu,J., Lokki,M.L.,
            Marusic,A., Maschio,A., Meitinger,T., Mulas,A., Pare,G.,
            Parker,A.N., Peden,J.F., Petersmann,A., Pichler,I.,
            Pietilainen,K.H., Pouta,A., Ridderstrale,M., Rotter,J.I.,
            Sambrook,J.G., Sanders,A.R., Schmidt,C.O., Sinisalo,J., Smit,J.H.,
            Stringham,H.M., Bragi Walters,G., Widen,E., Wild,S.H.,
            Willemsen,G., Zagato,L., Zgaga,L., Zitting,P., Alavere,H.,
            Farrall,M., McArdle,W.L., Nelis,M., Peters,M.J., Ripatti,S., van
            Meurs,J.B., Aben,K.K., Ardlie,K.G., Beckmann,J.S., Beilby,J.P.,
            Bergman,R.N., Bergmann,S., Collins,F.S., Cusi,D., den Heijer,M.,
            Eiriksdottir,G., Gejman,P.V., Hall,A.S., Hamsten,A., Huikuri,H.V.,
            Iribarren,C., Kahonen,M., Kaprio,J., Kathiresan,S., Kiemeney,L.,
            Kocher,T., Launer,L.J., Lehtimaki,T., Melander,O., Mosley,T.H. Jr.,
            Musk,A.W., Nieminen,M.S., O'Donnell,C.J., Ohlsson,C., Oostra,B.,
            Palmer,L.J., Raitakari,O., Ridker,P.M., Rioux,J.D., Rissanen,A.,
            Rivolta,C., Schunkert,H., Shuldiner,A.R., Siscovick,D.S.,
            Stumvoll,M., Tonjes,A., Tuomilehto,J., van Ommen,G.J., Viikari,J.,
            Heath,A.C., Martin,N.G., Montgomery,G.W., Province,M.A., Kayser,M.,
            Arnold,A.M., Atwood,L.D., Boerwinkle,E., Chanock,S.J., Deloukas,P.,
            Gieger,C., Gronberg,H., Hall,P., Hattersley,A.T., Hengstenberg,C.,
            Hoffman,W., Lathrop,G.M., Salomaa,V., Schreiber,S., Uda,M.,
            Waterworth,D., Wright,A.F., Assimes,T.L., Barroso,I., Hofman,A.,
            Mohlke,K.L., Boomsma,D.I., Caulfield,M.J., Cupples,L.A.,
            Erdmann,J., Fox,C.S., Gudnason,V., Gyllensten,U., Harris,T.B.,
            Hayes,R.B., Jarvelin,M.R., Mooser,V., Munroe,P.B., Ouwehand,W.H.,
            Penninx,B.W., Pramstaller,P.P., Quertermous,T., Rudan,I.,
            Samani,N.J., Spector,T.D., Volzke,H., Watkins,H., Wilson,J.F.,
            Groop,L.C., Haritunians,T., Hu,F.B., Kaplan,R.C., Metspalu,A.,
            North,K.E., Schlessinger,D., Wareham,N.J., Hunter,D.J.,
            O'Connell,J.R., Strachan,D.P., Wichmann,H.E., Borecki,I.B., van
            Duijn,C.M., Schadt,E.E., Thorsteinsdottir,U., Peltonen,L.,
            Uitterlinden,A.G., Visscher,P.M., Chatterjee,N., Loos,R.J.,
            Boehnke,M., McCarthy,M.I., Ingelsson,E., Lindgren,C.M.,
            Abecasis,G.R., Stefansson,K., Frayling,T.M. and Hirschhorn,J.N.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   8  (bases 1 to 3445)
  AUTHORS   Yamauchi,T., Hara,K., Maeda,S., Yasuda,K., Takahashi,A.,
            Horikoshi,M., Nakamura,M., Fujita,H., Grarup,N., Cauchi,S.,
            Ng,D.P., Ma,R.C., Tsunoda,T., Kubo,M., Watada,H., Maegawa,H.,
            Okada-Iwabu,M., Iwabu,M., Shojima,N., Shin,H.D., Andersen,G.,
            Witte,D.R., Jorgensen,T., Lauritzen,T., Sandbaek,A., Hansen,T.,
            Ohshige,T., Omori,S., Saito,I., Kaku,K., Hirose,H., So,W.Y.,
            Beury,D., Chan,J.C., Park,K.S., Tai,E.S., Ito,C., Tanaka,Y.,
            Kashiwagi,A., Kawamori,R., Kasuga,M., Froguel,P., Pedersen,O.,
            Kamatani,N., Nakamura,Y. and Kadowaki,T.
  TITLE     A genome-wide association study in the Japanese population
            identifies susceptibility loci for type 2 diabetes at UBE2E2 and
            C2CD4A-C2CD4B
  JOURNAL   Nat Genet 42 (10), 864-868 (2010)
   PUBMED   20818381
  REMARK    GeneRIF: Single nucleotide polymorphism in C2CD4A is associated
            with type 2 diabetes.
            GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 3445)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10 (bases 1 to 3445)
  AUTHORS   Warton,K., Foster,N.C., Gold,W.A. and Stanley,K.K.
  TITLE     A novel gene family induced by acute inflammation in endothelial
            cells
  JOURNAL   Gene 342 (1), 85-95 (2004)
   PUBMED   15527968
  REMARK    GeneRIF: NLF1 may play a role in regulating genes which control
            cellular architecture.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM742013.1, AF504646.1, BX648578.1, AC104590.4 and BF196228.1.
            
            On Nov 23, 2018 this sequence version replaced NM_207322.2.
            
            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 :: BM742013.1, AF504646.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355522.5/ ENSP00000347712.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-605               BM742013.1         1-605
            606-1432            AF504646.1         580-1406
            1433-1616           BX648578.1         151-334
            1617-3203           AC104590.4         175645-177231
            3204-3445           BF196228.1         20-261              c
FEATURES             Location/Qualifiers
     source          1..3445
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.2"
     gene            1..3445
                     /gene="C2CD4A"
                     /gene_synonym="FAM148A; NLF1"
                     /note="C2 calcium dependent domain containing 4A"
                     /db_xref="GeneID:145741"
                     /db_xref="HGNC:HGNC:33627"
                     /db_xref="MIM:610343"
     exon            1..112
                     /gene="C2CD4A"
                     /gene_synonym="FAM148A; NLF1"
                     /inference="alignment:Splign:2.1.0"
     exon            113..3445
                     /gene="C2CD4A"
                     /gene_synonym="FAM148A; NLF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..1251
                     /gene="C2CD4A"
                     /gene_synonym="FAM148A; NLF1"
                     /note="nuclear localized factor 1; family with sequence
                     similarity 148, member A"
                     /codon_start=1
                     /product="C2 calcium-dependent domain-containing protein
                     4A"
                     /protein_id="NP_997205.2"
                     /db_xref="CCDS:CCDS32258.1"
                     /db_xref="GeneID:145741"
                     /db_xref="HGNC:HGNC:33627"
                     /db_xref="MIM:610343"
                     /translation="MWCLERLRLGPECLRRSGDWLLPGRARGAKSRTTAACANVLTPD
                     RIPEFCIPPRLMPRLALAALRNSWVEEAGMDEGAGRTDWDPRSQAALSLPHLPRVRTA
                     YGFCALLESPHTRRKESLLLGGPPAPRPRAHTYGGGGGPDALLGTLRVPRAPGPATPA
                     APGCPRPPQDALARRPRGCRLLRVPDGLLSRALRAGRSRRLTRVRSVSSGNEDKERRA
                     GSQSPARAPSTSPPSSRVPFPERLEAEGTVALGRAGDALRLAAEYCPGTGRLRLRLLR
                     AESPAGGAPGPRAVSCRLSLVLRPPGTALRQCSTVVGRSRKASFDQDFCFDGLSEDEV
                     RRLAVRVKARDEGRGRERGRLLGQGELSLGALLLL"
     regulatory      1317..1322
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2CD4A"
                     /gene_synonym="FAM148A; NLF1"
                     /note="hexamer: AATAAA"
     polyA_site      1344
                     /gene="C2CD4A"
                     /gene_synonym="FAM148A; NLF1"
     regulatory      3424..3429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2CD4A"
                     /gene_synonym="FAM148A; NLF1"
                     /note="hexamer: AATAAA"
     polyA_site      3445
                     /gene="C2CD4A"
                     /gene_synonym="FAM148A; NLF1"
                     /note="major polyA site"
ORIGIN      
        1 actggtgctg aaccccgccg cgcgcgcttt gaatttccca gccgctaagc gcctctcctg
       61 gtcggtgtcc caggcagaaa ggtgcagaga cccatctgac gcaggactcc aggtagacaa
      121 gctccagcag agagtggcca gatgtggtgc ctggagcgac tccgcttggg tcctgagtgc
      181 cttcggcgga gcggagactg gcttctcccg ggtcgggccc gcggagccaa gtctcgcacc
      241 accgccgcgt gcgcaaatgt gctcactccg gaccgcatcc ctgagttctg catcccgcca
      301 cggctcatgc cccgcctggc cttggctgcg ctccggaatt cttgggtcga agaagcaggg
      361 atggacgagg gcgccggccg cacagactgg gacccgcgct cgcaggccgc gctgtcactg
      421 ccgcacctgc cccgtgtgcg caccgcctac ggcttctgcg cgctgctcga gagcccgcac
      481 acgcgccgca aggagtcgct cctgctcggg ggcccgcccg cgccccggcc ccgggcccac
      541 acctacggcg gcggcggcgg cccggacgcc ctcctgggga ccctgcgcgt cccgcgagct
      601 ccgggcccgg cgacccccgc ggcccccggc tgtccccgcc cgccccagga cgcgctcgcc
      661 cggcggcccc gcggctgccg cctcctgcgc gtccccgacg ggctgctgag tcgcgcgctg
      721 cgggctggga ggagtcgccg cctgacccgc gtccgctccg tctccagcgg gaacgaggac
      781 aaggagcgcc gcgcgggctc ccagtccccg gcccgggccc cctccacgag cccgccgtcg
      841 tcccgggtcc cgtttcccga gcgcctggag gccgagggca ccgtggctct gggccgcgcc
      901 ggcgacgccc tgcgcctggc cgccgagtac tgtccgggaa ccgggcggct ccgcctccgg
      961 ctgctccgcg ccgagagccc ggccggaggc gcccccgggc cccgagccgt cagctgtcgc
     1021 ctcagcctcg tcctgcggcc gccgggcacc gcgcttcggc aatgcagcac tgtggtgggg
     1081 cgcagccgca aggcctcctt tgaccaggac ttctgcttcg acggcctctc ggaggacgaa
     1141 gtgcgccgcc tggccgttcg agtcaaggcc cgggacgagg gccgcggccg ggagcggggc
     1201 cgcctgctgg gccagggtga gctgtccctg ggcgccctcc tgctgctctg agggcccagc
     1261 cctccccggg gcgctctgcc cgggggactc cggacactga cagccgcgtg gtacaaaata
     1321 aacgtgtatt tgttgttctt atcagtcccg tttcagtaca acactggcag agatgattct
     1381 agattaacta tcccagtaaa agatatgata ttttccatag atacctccag aatttttttc
     1441 agcaaatgga atggttctac agtgtttccc aatatagaca gccatttgca taccatatgt
     1501 accacacacg cctaggaaat aatgaatcac atgaagtgtt agaactagaa agtgtcttgg
     1561 cgatctgttt gctccaatca cctcatttta aaattggtgc tttccacaac atgcatggag
     1621 accatcttgg agcatttact tttgaagcat tttgtttaag accccggata agaaaatgag
     1681 ggcaaaagag gtgaagtgac ttgtccaaga tcaacagtga attattagtt ggaacgccag
     1741 cctgatactc ctagctatat ctcactggaa aagcattgga gaaaatgaaa ccattttaat
     1801 attctaagct taaataatag ttataatagg ctaggtgtgg cggctcacgc ctgtaatcct
     1861 ggcactttgg gaggccgagg cgggcagatg gcttgagccc aggaatttga gaccaggctg
     1921 ggcaacatgg gaagaccgcg tctccataaa aaatacaaaa tttagccgga cgtggtggca
     1981 cgcacctgta gttccagcta ctctggggct gaggcgcaag gatcacttga gcctgggagg
     2041 tcaaggctgc agtgagccga gatcgtgcca ctgcactcca acctgggcaa ccggagtgag
     2101 accctgtctg caaataataa taataataat aaatagtttt acaagcgtta atttatgttt
     2161 taacccccaa aaggaggcac tgctatgccc attttacaga tgaggatatt gaggcacaga
     2221 ataaagagca gagccagaat ttgaacctag acaatcagca tttcactcat tactcttatg
     2281 taggtaatac cacagtgtct aaagggctcg ctattaaagt tgcgagtatt gtgcaacttc
     2341 tctctgaaac tgttgacact gaagttcgtg tctacttgta ttcctcatcc tgcttttggt
     2401 gaaaaaacaa attgcttgaa atgaataatt tattatctca tgctaataac ttcaggcatt
     2461 gagatgagct gatgggtcta aagctctgag gaggaagcta accggcctca gaatcataga
     2521 aatgggtgcc agccttgttg taaccaggtg agtttatctg ctggaacagg cagtggagag
     2581 tgtacagata gcatggtttt acctctggct tctgataata attccagatt taacaatcct
     2641 gttttagagg acgattttcc ctcatccctt gaattcactg ccagcagggc atttttttct
     2701 tttttttatg caaataggaa aatgcatcct aaatgagggt ttaaaaaatt gaaaatattt
     2761 aaatatacag gatggtgtta aatatgactc cattatcaat ctggattcag aaatggtttc
     2821 tgctttattt tatttcattt tatcttttag aaacaaggcg tcactctgtc acccaggctg
     2881 gagtgcagtg gtgtgatcat agctcactgc agcctctacc tcctgacaca agctgtcatc
     2941 ccgctttggc ttctcaaagt gctaggatta taggcgtgag ccaccatgcc cgaccagttt
     3001 ctgcttttat taaaattgtt cacagtttta tacattcatg ttcattaaaa atgctattta
     3061 gaaaagagtt tgataaaata aatattatac aaaattcgaa gaaaaaagaa aagagtttct
     3121 gtttcagtca caaattaggg ttattgtgat gtgtatttat gatgaccatt gaacaaatgt
     3181 gaagaatact gtgaattcta tgactttatc aaaatcagcc acatccagga gcttgcagtt
     3241 gttgaccaaa tgaatgatga catagagtag ttcagatcta tcatgtgctc ttctatctaa
     3301 tcagtcaata tttccttggc cctcaagcca acattcattt tttatgtata accttcttca
     3361 tgattttgaa attttgatag ggtaactgct aatgagttca caaatgtagc actttaaaag
     3421 gaaaataaat ggagagtgaa aacaa
//
