LOCUS       NM_004629               2556 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens FA complementation group G (FANCG), mRNA.
ACCESSION   NM_004629
VERSION     NM_004629.2
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 2556)
  AUTHORS   Soukupova,J., Stastna,B., Kanwal,M., Hojny,J., Zemankova,P.,
            Borecka,M., Cerna,L., Cerna,M., Cerna,M., Curtisova,V.,
            Dolezalova,T., Duskova,P., Foretova,L., Havranek,O., Horackova,K.,
            Hovhannisyan,M., Hruskova,L., Chvojka,S., Janatova,M., Janikova,M.,
            Jelinkova,S., Just,P., Kalousova,M., Kleiblova,P., Kosarova,M.,
            Koudova,M., Kral,J., Krausova,M., Krutilkova,V., Machackova,E.,
            Matejkova,K., Michalovska,R., Nehasil,P., Nemcova,B., Novotny,J.,
            Palek,M., Pesek,P., Safarikova,M., Scheinost,O., Springer,D.,
            Stolarova,L., Stranecky,V., Subrt,I., Tavandzis,S., Tureckova,E.,
            Vesela,K., Vlckova,Z., Vocka,M., Zima,T., Macurek,L. and Kleibl,Z.
  CONSRTM   CZECANCA consortium
  TITLE     A comprehensive study evaluating germline FANCG variants in
            predisposition to breast and ovarian cancer
  JOURNAL   Cancer Med 13 (16), e70103 (2024)
   PUBMED   39149814
  REMARK    GeneRIF: A comprehensive study evaluating germline FANCG variants
            in predisposition to breast and ovarian cancer.
REFERENCE   2  (bases 1 to 2556)
  AUTHORS   Trepte,P., Secker,C., Kostova,S., Maseko,S.B., Choi,S.G.,
            Blavier,J., Minia,I., Ramos,E.S., Cassonnet,P., Golusik,S.,
            Zenkner,M., Beetz,S., Liebich,M.J., Scharek,N., Schutz,A.,
            Sperling,M., Lisurek,M., Wang,Y., Spirohn,K., Hao,T.,
            Calderwood,M.A., Hill,D.E., Landthaler,M., Olivet,J., Twizere,J.C.,
            Vidal,M. and Wanker,E.E.
  TITLE     AI-guided pipeline for protein-protein interaction drug discovery
            identifies a SARS-CoV-2 inhibitor
  JOURNAL   bioRxiv (2023)
   PUBMED   37398436
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2556)
  AUTHORS   Shahid,M., Azfaralariff,A., Zubair,M., Abdulkareem Najm,A.,
            Khalili,N., Law,D., Firasat,S. and Fazry,S.
  TITLE     In silico study of missense variants of FANCA, FANCC and FANCG
            genes reveals high risk deleterious alleles predisposing to Fanconi
            anemia pathogenesis
  JOURNAL   Gene 812, 146104 (2022)
   PUBMED   34864095
  REMARK    GeneRIF: In silico study of missense variants of FANCA, FANCC and
            FANCG genes reveals high risk deleterious alleles predisposing to
            Fanconi anemia pathogenesis.
REFERENCE   4  (bases 1 to 2556)
  AUTHORS   Cochran,T. and Li,W.
  TITLE     Frequent internuclear bridging in a Fanconi anemia patient with
            FANCG mutation
  JOURNAL   Blood 138 (8), 738 (2021)
   PUBMED   34436527
  REMARK    GeneRIF: Frequent internuclear bridging in a Fanconi anemia patient
            with FANCG mutation.
REFERENCE   5  (bases 1 to 2556)
  AUTHORS   Garcia-Higuera,I., Kuang,Y., Naf,D., Wasik,J. and D'Andrea,A.D.
  TITLE     Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a
            functional nuclear complex
  JOURNAL   Mol Cell Biol 19 (7), 4866-4873 (1999)
   PUBMED   10373536
REFERENCE   6  (bases 1 to 2556)
  AUTHORS   de Winter,J.P., Waisfisz,Q., Rooimans,M.A., van Berkel,C.G.,
            Bosnoyan-Collins,L., Alon,N., Carreau,M., Bender,O., Demuth,I.,
            Schindler,D., Pronk,J.C., Arwert,F., Hoehn,H., Digweed,M.,
            Buchwald,M. and Joenje,H.
  TITLE     The Fanconi anaemia group G gene FANCG is identical with XRCC9
  JOURNAL   Nat Genet 20 (3), 281-283 (1998)
   PUBMED   9806548
REFERENCE   7  (bases 1 to 2556)
  AUTHORS   Joenje,H., Oostra,A.B., Wijker,M., di Summa,F.M., van Berkel,C.G.,
            Rooimans,M.A., Ebell,W., van Weel,M., Pronk,J.C., Buchwald,M. and
            Arwert,F.
  TITLE     Evidence for at least eight Fanconi anemia genes
  JOURNAL   Am J Hum Genet 61 (4), 940-944 (1997)
   PUBMED   9382107
REFERENCE   8  (bases 1 to 2556)
  AUTHORS   Liu,N., Lamerdin,J.E., Tucker,J.D., Zhou,Z.Q., Walter,C.A.,
            Albala,J.S., Busch,D.B. and Thompson,L.H.
  TITLE     The human XRCC9 gene corrects chromosomal instability and mutagen
            sensitivities in CHO UV40 cells
  JOURNAL   Proc Natl Acad Sci U S A 94 (17), 9232-9237 (1997)
   PUBMED   9256465
REFERENCE   9  (bases 1 to 2556)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   10 (bases 1 to 2556)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ007669.1.
            
            On Dec 4, 2019 this sequence version replaced NM_004629.1.
            
            Summary: The Fanconi anemia complementation group (FANC) currently
            includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2,
            FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM
            and FANCN (also called PALB2). The previously defined group FANCH
            is the same as FANCA. Fanconi anemia is a genetically heterogeneous
            recessive disorder characterized by cytogenetic instability,
            hypersensitivity to DNA crosslinking agents, increased chromosomal
            breakage, and defective DNA repair. The members of the Fanconi
            anemia complementation group do not share sequence similarity; they
            are related by their assembly into a common nuclear protein
            complex. This gene encodes the protein for complementation group G.
            [provided by RefSeq, Jul 2008].
            
            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 :: BC011623.2, U70310.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378643.8/ ENSP00000367910.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2556              AJ007669.1         75-2630
FEATURES             Location/Qualifiers
     source          1..2556
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..2556
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /note="FA complementation group G"
                     /db_xref="GeneID:2189"
                     /db_xref="HGNC:HGNC:3588"
                     /db_xref="MIM:602956"
     exon            1..502
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     CDS             419..2287
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /note="DNA repair protein XRCC9; X-ray repair,
                     complementing defective, in Chinese hamster, 9; X-ray
                     repair complementing defective repair in Chinese hamster
                     cells 9; Fanconi anemia complementation group G"
                     /codon_start=1
                     /product="Fanconi anemia group G protein"
                     /protein_id="NP_004620.1"
                     /db_xref="CCDS:CCDS6574.1"
                     /db_xref="GeneID:2189"
                     /db_xref="HGNC:HGNC:3588"
                     /db_xref="MIM:602956"
                     /translation="MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQ
                     DALEGLRGLLHSLQGLPAAVPVLPLELTVTCNFIILRASLAQGFTEDQAQDIQRSLER
                     VLETQEQQGPRLEQGLRELWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLA
                     LLLETLNGSQSGASKDLLLLLKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQ
                     ELITGNPDKALSSLHEAASGLCPRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEG
                     SAWGPPLLEASRLYQQLGDTTAELESLELLVEALNVPCSSKAPQFLIEVELLLPPPDL
                     ASPLHCGTQSQTKHILASRCLQTGRAGDAAEHYLDLLALLLDSSEPRFSPPPSPPGPC
                     MPEVFLEAAVALIQAGRAQDALTLCEELLSRTSSLLPKMSRLWEDARKGTKELPYCPL
                     WVSATHLLQGQAWVQLGAQKVAISEFSRCLELLFRATPEEKEQGAAFNCEQGCKSDAA
                     LQQLRAAALISRGLEWVASGQDTKALQDFLLSVQMCPGNRDTYFHLLQTLKRLDRRDE
                     ATALWWRLEAQTKGSHEDALWSLPLYLESYLSWIRPSDRDAFLEEFRTSLPKSCDL"
     exon            503..593
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            594..725
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            726..928
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1064
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1195
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1342
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1343..1494
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1495..1561
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1851
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..1898
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1899..2054
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            2055..2178
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            2179..2556
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2539..2544
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /note="hexamer: AGTAAA"
     polyA_site      2556
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /note="major polyA site"
ORIGIN      
        1 cctttctcga ggctgtggcc tccgcgagag ccgagcgggc cgcaccgccg gccgtgcgac
       61 tgccccagtc agacacgacc ccggcttcta gcccgcctaa gcctgtttgg ggttgctgac
      121 tcgtttcctc cccgagtttc ccgcgggaac taactcttca agaggaccaa ccgcagccca
      181 gagcttcgca gacccggcca accagaggcg aggttgagag cccggcgggc cgcggggaga
      241 gagcgtccca tctgtcctgg aaagcctggg cgggtggatt gggaccccga gagaagcagg
      301 ggagctcggc ggggtgcaga agtgcccagg cccctccccg ctggggttgg gagcttgggc
      361 aggccagctt cacccttcct aagtccgctt ctggtctccg ggcccagcct cggccaccat
      421 gtcccgccag accacctctg tgggctccag ctgcctggac ctgtggaggg aaaagaatga
      481 ccggctcgtt cgacaggcca aggtggctca gaactccggt ctgactctga ggcgacagca
      541 gttggctcag gatgcactgg aagggctcag agggctcctc catagtctgc aagggctccc
      601 tgcagctgtt cctgttcttc ccttggagct gactgtcacc tgcaacttca ttatcctgag
      661 ggcaagcttg gcccagggtt tcacagagga tcaggcccag gatatccagc ggagcctaga
      721 gagagtgctg gagacacagg agcagcaggg gcccaggttg gaacaggggc tcagggagct
      781 gtgggactct gtccttcgtg cttcctgcct tctgccggag ctgctgtctg ccctgcaccg
      841 cctggttggc ctgcaggctg ccctctggtt gagtgctgac cgtcttgggg acctggcctt
      901 gttactagag accctgaatg gcagccagag tggagcctct aaggatctgc tgttacttct
      961 gaaaacttgg agtcccccag ctgaggaatt agatgctcca ttgaccctgc aggatgccca
     1021 gggattgaag gatgtcctcc tgacagcatt tgcctaccgc caaggtctcc aggagctgat
     1081 cacagggaac ccagacaagg cactaagcag ccttcatgaa gcggcctcag gcctgtgtcc
     1141 acggcctgtg ttggtccagg tgtacacagc actggggtcc tgtcaccgta agatgggaaa
     1201 tccacagaga gcactgttgt acttggttgc agccctgaaa gagggatcag cctggggtcc
     1261 tccacttctg gaggcctcta ggctctatca gcaactgggg gacacaacag cagagctgga
     1321 gagtctggag ctgctagttg aggccttgaa tgtcccatgc agttccaaag ccccgcagtt
     1381 tctcattgag gtagaattac tactgccacc acctgaccta gcctcacccc ttcattgtgg
     1441 cactcagagc cagaccaagc acatactagc aagcaggtgc ctacagacgg ggagggcagg
     1501 agacgctgca gagcattact tggacctgct ggccctgttg ctggatagct cggagccaag
     1561 gttctcccca cccccctccc ctccagggcc ctgtatgcct gaggtgtttt tggaggcagc
     1621 ggtagcactg atccaggcag gcagagccca agatgccttg actctatgtg aggagttgct
     1681 cagccgcaca tcatctctgc tacccaagat gtcccggctg tgggaagatg ccagaaaagg
     1741 aaccaaggaa ctgccatact gcccactctg ggtctctgcc acccacctgc ttcagggcca
     1801 ggcctgggtt caactgggtg cccaaaaagt ggcaattagt gaatttagca ggtgcctcga
     1861 gctgctcttc cgggccacac ctgaggaaaa agaacaaggg gcagctttca actgtgagca
     1921 gggatgtaag tcagatgcgg cactgcagca gcttcgggca gccgccctaa ttagtcgtgg
     1981 actggaatgg gtagccagcg gccaggatac caaagcctta caggacttcc tcctcagtgt
     2041 gcagatgtgc ccaggtaatc gagacactta ctttcacctg cttcagactc tgaagaggct
     2101 agatcggagg gatgaggcca ctgcactctg gtggaggctg gaggcccaaa ctaaggggtc
     2161 acatgaagat gctctgtggt ctctccccct gtacctagaa agctatttga gctggatccg
     2221 tccctctgat cgtgacgcct tccttgaaga atttcggaca tctctgccaa agtcttgtga
     2281 cctgtagctg ccacgttttg aagagcttga gctgggtccc cagtgggctg tctctctgtg
     2341 gggagggctt tctgcttcac catcattagg aatgtgacca ttcctatata attcctggac
     2401 tggtgagatt ggtggtaggc ctgtgaaatt tgccctagtt actaccattc tcgttttgga
     2461 ggaaacaatc tctgccacca ccaagtcatt gactttgctc gaggcacctt ttttcctgtt
     2521 tctccttttc tgttgtcgag taaaatttca tattta
//
