LOCUS       NM_003203               4367 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2),
            transcript variant 1, mRNA.
ACCESSION   NM_003203
VERSION     NM_003203.5
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 4367)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4367)
  AUTHORS   Yang,C., Yin,L., Zhou,P., Liu,X., Yang,M., Yang,F., Jiang,H. and
            Ding,K.
  TITLE     Transcriptional regulation of IER5 in response to radiation in
            HepG2
  JOURNAL   Cancer Gene Ther 23 (2-3), 61-65 (2016)
   PUBMED   26915404
  REMARK    GeneRIF: Authors propose the GCF regulated transcriptional
            activity, at least in part, contributed to the upregulation of IER5
            on radiation in HepG2 cells. The present findings provide insights
            into understanding the regulatory mechanisms of IER5.
REFERENCE   3  (bases 1 to 4367)
  AUTHORS   Yoshimoto,R., Okawa,K., Yoshida,M., Ohno,M. and Kataoka,N.
  TITLE     Identification of a novel component C2ORF3 in the lariat-intron
            complex: lack of C2ORF3 interferes with pre-mRNA splicing via
            intron turnover pathway
  JOURNAL   Genes Cells 19 (1), 78-87 (2014)
   PUBMED   24304693
  REMARK    GeneRIF: C2ORF3 protein is required for pre-mRNA splicing through
            its presumable role in efficient intron turnover
REFERENCE   4  (bases 1 to 4367)
  AUTHORS   Melville,S.A., Buros,J., Parrado,A.R., Vardarajan,B., Logue,M.W.,
            Shen,L., Risacher,S.L., Kim,S., Jun,G., DeCarli,C., Lunetta,K.L.,
            Baldwin,C.T., Saykin,A.J. and Farrer,L.A.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Multiple loci influencing hippocampal degeneration identified by
            genome scan
  JOURNAL   Ann Neurol 72 (1), 65-75 (2012)
   PUBMED   22745009
REFERENCE   5  (bases 1 to 4367)
  AUTHORS   Paracchini,S., Ang,Q.W., Stanley,F.J., Monaco,A.P., Pennell,C.E.
            and Whitehouse,A.J.
  TITLE     Analysis of dyslexia candidate genes in the Raine cohort
            representing the general Australian population
  JOURNAL   Genes Brain Behav 10 (2), 158-165 (2011)
   PUBMED   20846247
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 4367)
  AUTHORS   Takimoto,M., Mao,P., Wei,G., Yamazaki,H., Miura,T., Johnson,A.C.
            and Kuzumaki,N.
  TITLE     Molecular analysis of the GCF gene identifies revisions to the cDNA
            and amino acid sequences(1)
  JOURNAL   Biochim Biophys Acta 1447 (1), 125-131 (1999)
   PUBMED   10500253
REFERENCE   7  (bases 1 to 4367)
  AUTHORS   Mao,P.
  TITLE     [Revisions of the cDNA and primary protein structure of human
            transcription factor GCF]
  JOURNAL   Hokkaido Igaku Zasshi 74 (4), 315-330 (1999)
   PUBMED   10480038
REFERENCE   8  (bases 1 to 4367)
  AUTHORS   Reed,A.L., Yamazaki,H., Kaufman,J.D., Rubinstein,Y., Murphy,B. and
            Johnson,A.C.
  TITLE     Molecular cloning and characterization of a transcription regulator
            with homology to GC-binding factor
  JOURNAL   J Biol Chem 273 (34), 21594-21602 (1998)
   PUBMED   9705290
REFERENCE   9  (bases 1 to 4367)
  AUTHORS   Johnson,A.C., Kageyama,R., Popescu,N.C. and Pastan,I.
  TITLE     Expression and chromosomal localization of the gene for the human
            transcriptional repressor GCF
  JOURNAL   J Biol Chem 267 (3), 1689-1694 (1992)
   PUBMED   1370479
REFERENCE   10 (bases 1 to 4367)
  AUTHORS   Kageyama,R. and Pastan,I.
  TITLE     Molecular cloning and characterization of a human DNA binding
            factor that represses transcription
  JOURNAL   Cell 59 (5), 815-825 (1989)
   PUBMED   2556218
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU189326.1, BC064559.1, EF158469.1 and AC005034.2.
            
            On May 17, 2019 this sequence version replaced NM_003203.4.
            
            Summary: The first mRNA transcript isolated for this gene was part
            of an artificial chimera derived from two distinct gene transcripts
            and a primer used in the cloning process (see Genbank accession
            M29204). A positively charged amino terminus present only in the
            chimera was determined to bind GC-rich DNA, thus mistakenly thought
            to identify a transcription factor gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: BC064559.1, SRR1660809.58618.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321027.8/ ENSP00000318690.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-154               BU189326.1         105-258
            155-1667            BC064559.1         122-1634
            1668-2576           EF158469.1         952-1860
            2577-4167           AC005034.2         121203-122793
            4168-4367           BC064559.1         4137-4336
FEATURES             Location/Qualifiers
     source          1..4367
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p12"
     gene            1..4367
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /note="GC-rich sequence DNA-binding factor 2"
                     /db_xref="GeneID:6936"
                     /db_xref="HGNC:HGNC:1317"
                     /db_xref="MIM:189901"
     exon            1..325
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..2406
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /note="isoform 1 is encoded by transcript variant 1; GC
                     binding factor; transcription factor 9 (binds GC-rich
                     sequences); intron Large complex component GCFC2; GC
                     bindng factor; TCF-9"
                     /codon_start=1
                     /product="intron Large complex component GCFC2 isoform 1"
                     /protein_id="NP_003194.3"
                     /db_xref="CCDS:CCDS1961.1"
                     /db_xref="GeneID:6936"
                     /db_xref="HGNC:HGNC:1317"
                     /db_xref="MIM:189901"
                     /translation="MAHRPKRTFRQRAADSSDSDGAEESPAEPGAPRELPVPGSAEEE
                     PPSGGGRAQVAGLPHRVRGPRGRGRVWASSRRATKAAPRADEGSESRTLDVSTDEEDK
                     IHHSSESKDDQGLSSDSSSSLGEKELSSTVKIPDAAFIQAARRKRELARAQDDYISLD
                     VQHTSSISGMKRESEDDPESEPDDHEKRIPFTLRPQTLRQRMAEESISRNEETSEESQ
                     EDEKQDTWEQQQMRKAVKIIEERDIDLSCGNGSSKVKKFDTSISFPPVNLEIIKKQLN
                     TRLTLLQETHRSHLREYEKYVQDVKSSKSTIQNLESSSNQALNCKFYKSMKIYVENLI
                     DCLNEKIINIQEIESSMHALLLKQAMTFMKRRQDELKHESTYLQQLSRKDETSTSGNF
                     SVDEKTQWILEEIESRRTKRRQARVLSGNCNHQEGTSSDDELPSAEMIDFQKSQGDIL
                     QKQKKVFEEVQDDFCNIQNILLKFQQWREKFPDSYYEAFISLCIPKLLNPLIRVQLID
                     WNPLKLESTGLKEMPWFKSVEEFMDSSVEDSKKESSSDKKVLSAIINKTIIPRLTDFV
                     EFLWDPLSTSQTTSLITHCRVILEEHSTCENEVSKSRQDLLKSIVSRMKKAVEDDVFI
                     PLYPKSAVENKTSPHSKFQERQFWSGLKLFRNILLWNGLLTDDTLQELGLGKLLNRYL
                     IIALLNATPGPDVVKKCNQVAACLPEKWFENSAMRTSIPQLENFIQFLLQSAHKLSRS
                     EFRDEVEEIILILVKIKALNQAESFIGEHHLDHLKSLIKED"
     exon            326..454
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            455..679
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            680..777
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            778..893
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1080
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1204
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1286
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            1287..1399
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1599
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..1750
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            1751..1872
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            1873..1949
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            1950..2016
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            2017..2163
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            2164..2288
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     exon            2289..4367
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2406..2411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /note="hexamer: AATAAA"
     polyA_site      2432
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /note="major polyA site"
     regulatory      2610..2615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /note="hexamer: ATTAAA"
     polyA_site      2654
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /note="major polyA site"
     regulatory      4342..4347
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /note="hexamer: ATTAAA"
     polyA_site      4367
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
ORIGIN      
        1 actgaagctg cggcttgcgg ttcagcgggt tctagggcgc cgggcgctcg ggcctcggcc
       61 atggctcaca ggccgaaaag gacttttcgg cagcgcgcgg ctgattccag cgacagcgat
      121 ggcgccgagg agtcgcctgc tgagcctggg gcgccgaggg aacttccggt cccgggttct
      181 gcggaggaag agccgccctc tggaggaggc cgcgcgcagg tggcgggact gccccaccgg
      241 gttcggggcc ctcgtggccg gggccgggtc tgggcgagct cccggcgtgc caccaaagcg
      301 gctccccgcg cggacgaagg ctcagaatcc agaacccttg atgtgtccac agatgaagag
      361 gataaaatac atcactcctc agaaagtaag gatgatcagg gtttgtcttc tgacagttct
      421 agctctcttg gagaaaaaga actttcatca acagttaaga tcccagatgc agcttttatt
      481 caggcagccc gcagaaaacg tgaattggcc agggcccaag atgactatat ttctttggat
      541 gtacaacata cctcctccat ctctggtatg aagagagaga gcgaagatga ccctgagagt
      601 gagcctgatg accatgaaaa gagaatacca tttactctaa gacctcaaac acttagacaa
      661 aggatggctg aggaatcaat aagcagaaat gaagaaacaa gtgaagaaag tcaggaagat
      721 gaaaagcaag atacttggga acaacagcaa atgaggaaag cagttaaaat catagaggaa
      781 agagacatag atctttcctg tggcaatgga tcttcaaaag tgaagaaatt tgatacttcc
      841 atttcatttc cgccagtaaa tttagaaatt ataaagaagc aattaaatac tagattaaca
      901 ttactacagg aaactcaccg ctcacacctg agggagtatg aaaaatacgt acaagatgtc
      961 aaaagctcaa agagtaccat ccagaaccta gagagttcat caaatcaagc tctaaattgt
     1021 aaattctata aaagcatgaa aatttatgtg gaaaatttaa ttgactgcct taatgaaaag
     1081 attatcaaca tccaagaaat agaatcatcc atgcatgcac tccttttaaa acaagctatg
     1141 acctttatga aacgcaggca agatgaatta aaacatgaat caacgtattt acaacagtta
     1201 tcacgcaaag atgagacatc cacaagtgga aacttctcag tagatgaaaa aactcagtgg
     1261 attttagaag agattgaatc tcgaaggaca aaaagaagac aagcaagggt gctttctggg
     1321 aattgtaacc atcaggaagg aacatctagt gatgatgaac tgccttcagc agagatgatt
     1381 gacttccaaa aaagccaagg tgacatttta cagaaacaga agaaagtttt tgaagaagtg
     1441 caagatgatt tttgtaacat ccagaatatt ttgttgaaat ttcagcaatg gcgagaaaag
     1501 tttcctgact cctattatga agctttcatt agtttatgca taccaaagct tttaaatccc
     1561 ctaatacgag ttcagttgat tgattggaat cctcttaagt tggaatccac aggtttaaaa
     1621 gagatgccat ggttcaaatc tgtagaagaa tttatggata gcagtgtgga agattcaaag
     1681 aaggaaagta gttcagataa aaaagtcttg tctgcaatca tcaacaaaac aattattccc
     1741 cgacttacag actttgtaga attcctttgg gatcctttgt caacctcaca gacaacaagt
     1801 ttaataacac attgcagagt gattcttgaa gaacattcca cttgtgaaaa tgaagttagt
     1861 aaaagcagac aggatttact taaatccatt gtttcaagaa tgaaaaaggc agtagaagat
     1921 gatgttttta ttcctctgta tccaaagagt gctgtagaaa acaaaacatc acctcattca
     1981 aagttccaag aaagacagtt ctggtcaggc ctaaagctct tccgcaatat tcttctttgg
     2041 aatggactcc ttacagatga caccttgcaa gaactaggac tagggaagct gctaaatcgt
     2101 taccttatta tagcacttct caatgccaca cctgggccag atgtggttaa aaagtgcaac
     2161 caggtagcag catgtctacc agaaaaatgg tttgaaaatt ctgccatgag gacatctatt
     2221 ccacagctag aaaacttcat tcagttttta ttgcagtctg cacataaatt atctagaagt
     2281 gaattcaggg atgaagtcga agaaataatt cttattttgg tgaaaataaa agctttgaat
     2341 caagcagaat ccttcatagg agagcatcac ctagaccatc ttaaatcact aattaaagaa
     2401 gattgaataa actttattgg aaaatgctaa aattttaata tagttacact cagttccttt
     2461 gtttgagaag aagctggtgc ctctctcttc tttattccct gtaatagaag gtaggatttg
     2521 aaaaaaagca ggactccacc tctgtattcc cccgtgcttt accttctggc atcatgaaaa
     2581 gctgccatga ttctgtggtg ttctaaggaa ttaaatgcac tggagcttta agagctcaac
     2641 gtgtttccct ttgattcttt tggctggtct ttcaattttc ttaagagggg aactggagaa
     2701 accttgctaa aggttttagc ttaagtgagc atgctactaa gtcttctgtc ctgaaccaca
     2761 ataatatctt ttagttctct ttaactacct ttatttaaaa ataagtcaat atgaaaatct
     2821 cagttggagt gaattatttg ctaagtatta aatgattaag gcatgtgccg attgtcaaat
     2881 tatccttcag aaatctgtac caatttaatg taccaacata agcataagtg agtgccaatg
     2941 aatccctacc agcagtagtt attatccttt ttaaaaatgc attgaaaatt tgaaaggtaa
     3001 aaatcttatt ttaatagcgt attttgtgtt ggctattaga gagtaaacat attggttttg
     3061 gccatttgta attatttctg aaatatccat ctttttctta tggactttaa gacctttata
     3121 tttttaaaga tattgatttt ttgcccatgc ttgtggcaga agttttcctt atttgccatt
     3181 tttcttttat ttttttttta attgtatttt ttgagacagg gtctggctct gtcacccagg
     3241 ctggagagta gtggcacaat ctcggctcac tgcaacctct gccttctggg ctcaagcaat
     3301 cctcccactt caacctccca agtagctggg actataggca tgcgccacca tgcccagctg
     3361 atttttgtaa ttttttgtag agatggggtt tcgtgacatt gcccaggctg gtctcgaact
     3421 cttgagctca agcagtctac ccaccttgac ctcccaaagt gctgggatta caggcttgag
     3481 caaccatgtt tggcctttct tttaaatttg ttgatgtttt ttgaagcatt aagtcattac
     3541 ttattagcaa gttactattt tgtttttttg tcattggtgg taggactaag aaggaaacag
     3601 atattttaaa tactcacaac atgtgattca ttttctgata aaatatttgt ctaataaaac
     3661 agaggcaaga taatttaatc aaaagaaatt aagaaaattt tccaaaaatg ttagtttact
     3721 agtaattttt ctaagtctac ttattaaata acttaaggga aactgtaaat atattttgca
     3781 aattgttgtt caaaagataa ttggaaaaaa ttgaatatat tgtaggattt gaatatacag
     3841 cctactttta tgtcacctct accttcaaaa ctacatataa tttattttag gagttggatt
     3901 tgttatgtct gttgcagtga ggacttgtga ttcactggta tgaagaattt tttgatgttt
     3961 atattagtaa caaaattata caaggataga atctcatcta gaaaatgcaa actattgttg
     4021 aaaagcagtt agcatttcca cacaaccgct gtccccagag ataactgctg ttttcatttt
     4081 aatgttatcc ttttagacct tttctctatt tacaaaaatg ttacgtgttt ctatgtgtac
     4141 atagttttgg gttttttttt tttttttacg taagtggcag acactttatt gcacatgaaa
     4201 tttgtaattt ttttctattt aagtacacat ttggaaatta tcctctgact tttggatttt
     4261 taactaaata tgttggacgt gttcctttat atatttaagt tcagcacaga aactttccta
     4321 cctttttgtg gaagataaaa tattaaaact gctttcaaaa ctacaaa
//
