LOCUS       NM_000400               4108 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ERCC excision repair 2, TFIIH core complex helicase
            subunit (ERCC2), transcript variant 1, mRNA.
ACCESSION   NM_000400
VERSION     NM_000400.4
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 4108)
  AUTHORS   Barbour,J.A., Ou,T., Yang,H., Fang,H., Yue,N.C., Zhu,X.,
            Wong-Brown,M.W., Wong,Y.T., Bowden,N.A., Wu,S. and Wong,J.W.H.
  TITLE     ERCC2 mutations alter the genomic distribution pattern of somatic
            mutations and are independently prognostic in bladder cancer
  JOURNAL   Cell Genom 4 (8), 100627 (2024)
   PUBMED   39096913
  REMARK    GeneRIF: ERCC2 mutations alter the genomic distribution pattern of
            somatic mutations and are independently prognostic in bladder
            cancer.
REFERENCE   2  (bases 1 to 4108)
  AUTHORS   Zeng,W., Xu,W. and Long,W.
  TITLE     The association between XPD rs13181 and rs1799793 polymorphism and
            oral cancer risk: evidence from a meta-analysis
  JOURNAL   BMC Cancer 24 (1), 738 (2024)
   PUBMED   38879503
  REMARK    GeneRIF: The association between XPD rs13181 and rs1799793
            polymorphism and oral cancer risk: evidence from a meta-analysis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4108)
  AUTHORS   Gudur,A.K., Kale,S.R., Gudur,R.A., Bhosale,S.J. and Datkhile,K.D.
  TITLE     Genetic Polymorphisms of XPC, XPD, XPG Genes and their Association
            with Radiotherapy Induced Toxicity among Head and Neck Cancer
            Patients: A Hospital Based Study from Maharashtra
  JOURNAL   Asian Pac J Cancer Prev 25 (1), 191-199 (2024)
   PUBMED   38285784
  REMARK    GeneRIF: Genetic Polymorphisms of XPC, XPD, XPG Genes and their
            Association with Radiotherapy Induced Toxicity among Head and Neck
            Cancer Patients: A Hospital Based Study from Maharashtra.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4108)
  AUTHORS   Fu,I., Geacintov,N.E. and Broyde,S.
  TITLE     Differing structures and dynamics of two photolesions portray
            verification differences by the human XPD helicase
  JOURNAL   Nucleic Acids Res 51 (22), 12261-12274 (2023)
   PUBMED   37933861
  REMARK    GeneRIF: Differing structures and dynamics of two photolesions
            portray verification differences by the human XPD helicase.
REFERENCE   5  (bases 1 to 4108)
  AUTHORS   Sun,G.F. and Ding,H.
  TITLE     NOP2-mediated m5C methylation of XPD is associated with
            hepatocellular carcinoma progression
  JOURNAL   Neoplasma 70 (3), 340-349 (2023)
   PUBMED   37498063
  REMARK    GeneRIF: NOP2-mediated m5C methylation of XPD is associated with
            hepatocellular carcinoma progression.
REFERENCE   6  (bases 1 to 4108)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301571
REFERENCE   7  (bases 1 to 4108)
  AUTHORS   Flejter,W.L., McDaniel,L.D., Johns,D., Friedberg,E.C. and
            Schultz,R.A.
  TITLE     Correction of xeroderma pigmentosum complementation group D mutant
            cell phenotypes by chromosome and gene transfer: involvement of the
            human ERCC2 DNA repair gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 261-265 (1992)
   PUBMED   1729695
REFERENCE   8  (bases 1 to 4108)
  AUTHORS   Jacob,G.A., Luse,S.W. and Luse,D.S.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   9  (bases 1 to 4108)
  AUTHORS   Weber,C.A., Salazar,E.P., Stewart,S.A. and Thompson,L.H.
  TITLE     ERCC2: cDNA cloning and molecular characterization of a human
            nucleotide excision repair gene with high homology to yeast RAD3
  JOURNAL   EMBO J 9 (5), 1437-1447 (1990)
   PUBMED   2184031
REFERENCE   10 (bases 1 to 4108)
  AUTHORS   Conaway,R.C. and Conaway,J.W.
  TITLE     ATP activates transcription initiation from promoters by RNA
            polymerase II in a reversible step prior to RNA synthesis
  JOURNAL   J Biol Chem 263 (6), 2962-2968 (1988)
   PUBMED   2449431
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA409300.1, BC108255.1,
            CN388234.1 and L47234.2.
            
            On Nov 21, 2019 this sequence version replaced NM_000400.3.
            
            Summary: The nucleotide excision repair pathway is a mechanism to
            repair damage to DNA. The protein encoded by this gene is involved
            in transcription-coupled nucleotide excision repair and is an
            integral member of the basal transcription factor BTF2/TFIIH
            complex. The gene product has ATP-dependent DNA helicase activity
            and belongs to the RAD3/XPD subfamily of helicases. Defects in this
            gene can result in three different disorders, the cancer-prone
            syndrome xeroderma pigmentosum complementation group D,
            trichothiodystrophy, and Cockayne syndrome. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            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 :: SRR11853563.17169.1,
                                           SRR11853558.12988.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000391945.10/ ENSP00000375809.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                DA409300.1         16-38
            24-2351             BC108255.1         1-2328
            2352-2554           CN388234.1         253-455
            2555-4108           L47234.2           25202-26755
FEATURES             Location/Qualifiers
     source          1..4108
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..4108
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="ERCC excision repair 2, TFIIH core complex helicase
                     subunit"
                     /db_xref="GeneID:2068"
                     /db_xref="HGNC:HGNC:3434"
                     /db_xref="MIM:126340"
     exon            1..38
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..2316
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /EC_number="5.6.2.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     xeroderma pigmentosum complementary group D; TFIIH basal
                     transcription factor complex helicase subunit; TFIIH basal
                     transcription factor complex helicase XPB subunit; TFIIH
                     basal transcription factor complex helicase XPD subunit;
                     TFIIH subunit XPD; DNA 5'-3' helicase XPD; excision repair
                     cross-complementing rodent repair deficiency,
                     complementation group 2; xeroderma pigmentosum group
                     D-complementing protein; TFIIH basal transcription factor
                     complex 80 kDa subunit; CXPD; BTF2 p80; TFIIH p80; TFIIH
                     80 kDa subunit; DNA excision repair protein ERCC-2; DNA
                     repair protein complementing XP-D cells; basic
                     transcription factor 2 80 kDa subunit; excision repair
                     cross-complementation group 2; general transcription and
                     DNA repair factor IIH helicase subunit XPD"
                     /codon_start=1
                     /product="general transcription and DNA repair factor IIH
                     helicase subunit XPD isoform 1"
                     /protein_id="NP_000391.1"
                     /db_xref="CCDS:CCDS33049.1"
                     /db_xref="GeneID:2068"
                     /db_xref="HGNC:HGNC:3434"
                     /db_xref="MIM:126340"
                     /translation="MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPS
                     GTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKL
                     PFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEE
                     FDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIA
                     DLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKET
                     DEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLR
                     RLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLA
                     DFSPLTLLANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFER
                     FQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISSKF
                     ETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKL
                     LFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVP
                     YVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADK
                     RFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQLGLSLLS
                     LEQLESEETLKRIEQIAQQL"
     exon            39..138
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            139..216
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            217..279
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            280..393
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            394..510
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            511..627
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            628..751
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            752..848
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            849..982
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1151
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1270
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1271..1340
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1341..1410
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..1512
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1576
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1577..1698
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1699..1791
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..1864
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1865..1935
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2079
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            2080..2223
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     exon            2224..4108
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2333..2338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="hexamer: CATAAA"
     polyA_site      2351
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="major polyA site"
     regulatory      4088..4093
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="hexamer: AATAAA"
     polyA_site      4108
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="major polyA site"
ORIGIN      
        1 gggtcgaccc cgctgcacag tccggccggc gccatgaagc tcaacgtgga cgggctcctg
       61 gtctacttcc cgtacgacta catctacccc gagcagttct cctacatgcg ggagctcaaa
      121 cgcacgctgg acgccaaggg tcatggagtc ctggagatgc cctcaggcac cgggaagaca
      181 gtatccctgt tggccctgat catggcatac cagagagcat atccgctgga ggtgaccaaa
      241 ctcatctact gctcaagaac tgtgccagag attgagaagg tgattgaaga gcttcgaaag
      301 ttgctcaact tctatgagaa gcaggagggc gagaagctgc cgtttctggg actggctctg
      361 agctcccgca aaaacttgtg tattcaccct gaggtgacac ccctgcgctt tgggaaggac
      421 gtcgatggga aatgccacag cctcacagcc tcctatgtgc gggcgcagta ccagcatgac
      481 accagcctgc cccactgccg attctatgag gaatttgatg cccatgggcg tgaggtgccc
      541 ctccccgctg gcatctacaa cctggatgac ctgaaggccc tggggcggcg ccagggctgg
      601 tgcccatact tccttgctcg atactcaatc ctgcatgcca atgtggtggt ttatagctac
      661 cactacctcc tggaccccaa gattgcagac ctggtgtcca aggaactggc ccgcaaggcc
      721 gtcgtggtct tcgacgaggc ccacaacatt gacaacgtct gcatcgactc catgagcgtc
      781 aacctcaccc gccggaccct tgaccggtgc cagggcaacc tggagaccct gcagaagacg
      841 gtgctcagga tcaaagagac agacgagcag cgcctgcggg acgagtaccg gcgtctggtg
      901 gaggggctgc gggaggccag cgccgcccgg gagacggacg cccacctggc caaccccgtg
      961 ctgcccgacg aagtgctgca ggaggcagtg cctggctcca tccgcacggc cgagcatttc
     1021 ctgggcttcc tgaggcggct gctggagtac gtgaagtggc ggctgcgtgt gcagcatgtg
     1081 gtgcaggaga gcccgcccgc cttcctgagc ggcctggccc agcgcgtgtg catccagcgc
     1141 aagcccctca gattctgtgc tgaacgcctc cggtccctgc tgcatactct ggagatcacc
     1201 gaccttgctg acttctcccc gctcaccctc cttgctaact ttgccaccct tgtcagcacc
     1261 tacgccaaag gcttcaccat catcatcgag ccctttgacg acagaacccc gaccattgcc
     1321 aaccccatcc tgcacttcag ctgcatggac gcctcgctgg ccatcaaacc cgtatttgag
     1381 cgtttccagt ctgtcatcat cacatctggg acactgtccc cgctggacat ctaccccaag
     1441 atcctggact tccaccccgt caccatggca accttcacca tgacgctggc acgggtctgc
     1501 ctctgcccta tgatcatcgg ccgtggcaat gaccaggtgg ccatcagctc caaatttgag
     1561 acccgggagg atattgctgt gatccggaac tatgggaacc tcctgctgga gatgtccgct
     1621 gtggtccctg atggcatcgt ggccttcttc accagctacc agtacatgga gagcaccgtg
     1681 gcctcctggt atgagcaggg gatccttgag aacatccaga ggaacaagct gctctttatt
     1741 gagacccagg atggtgccga aaccagtgtc gccctggaga agtaccagga ggcctgcgag
     1801 aatggccgcg gggccatcct gctgtcagtg gcccggggca aagtgtccga gggaatcgac
     1861 tttgtgcacc actacgggcg ggccgtcatc atgtttggcg tcccctacgt ctacacacag
     1921 agccgcattc tcaaggcgcg gctggaatac ctgcgggacc agttccagat tcgtgagaat
     1981 gactttctta ccttcgatgc catgcgccac gcggcccagt gtgtgggtcg ggccatcagg
     2041 ggcaagacgg actacggcct catggtcttt gccgacaagc ggtttgcccg tggggacaag
     2101 cgggggaagc tgccccgctg gatccaggag cacctcacag atgccaacct caacctgacc
     2161 gtggacgagg gtgtccaggt ggccaagtac ttcctgcggc agatggcaca gcccttccac
     2221 cgggaggatc agctgggcct gtccctgctc agcctggagc agctagaatc agaggagacg
     2281 ctgaagagga tagagcagat tgctcagcag ctctgagtgg ggcgggtggg gccataaacg
     2341 gttcctggtg actcctgagt cttgcctggc cctggttccc agcggcggtg gtgctagaag
     2401 gtcttatgaa gtcaggtgac atttctcact gtcacgtcca cagcctttaa tcgcaggaga
     2461 aggcagctat ccaccaggta cccagaggca agggggggcc aggagatgat agaccccctc
     2521 tcaccccacc agcccatccc tcctgcactg ttcccaagaa gctgcggcca gcgcagttca
     2581 ctggacgtta gtgggggctc aggtcctggg tgctggcgct gagggtccga ggggccttgt
     2641 ccaggtgcca gctgggaaac tggagacagg cacaggggat ggttggaggg gaggtgaggg
     2701 gcaagtgtta catccaccct ccagctccag gtccagcctg gcagccaact atccaacccc
     2761 ctcgcctcta ccccaagtaa aacccatctt tgctcctgtc ctgggtctct tctgacacca
     2821 acccaccacc tgctgactcc accactggcc cgaccgccct gcctttgcct catctctgca
     2881 cctacccaca tggcctcctc tatttttgac ccagatgtcc ccctcacctg agtcccagga
     2941 gcccttggag catccacgtt cagtgtgttg agtgacatgg ctctcttcat tctgcaaaga
     3001 gggcagcagg gaggaaatga gtgaatccag gagtggcccc cctccacgag ggacctttcc
     3061 agcacagggt ttgatctgtg tgtatcacag gggagatggg agccatggaa ggttcttgag
     3121 caagatgggg gtgggggtgg ggtgggctgt ggattctgct gatgtcaggg ctctttgccg
     3181 acctgatcaa cactcacccg gctgctcctg ccgccgcctc gcctcggagc cgggagacca
     3241 gcttctcact tcctcgcctg atagactcac ggatcttgga gagtgagctg ctgcggcgaa
     3301 gggcctgggg aggggccggg gatgctgctc agtcccccag gcccatgcag tccccacgcc
     3361 caccccagga gccgaagcac agcccatcct cacctgttct gcgtcaccag ctgtgcctgt
     3421 gttgggggca cctaggggga aagatggggg acactgagat ggggacatag agaagccacc
     3481 aggagggaag acagacaggg gctaggggct caccgagagg ggcgggtagg tcctccttgt
     3541 ggaggatttc tttgtacagc tcttccgctt gttgatactt gttctgtttc aggtaggctg
     3601 aggcctgcgg agaagggagt gtctgggaac ttttcggacc ccagttccca acactgcatc
     3661 cagtcccgcc tttttttttt tttttgtaga gacaggggtc ttggtatgtt gcccaggctg
     3721 gtcttgaact cctagcctca agtgatcctc ctgccttggc ctcccaaagt gttggggtta
     3781 caagcgtgaa ccaccacgtc tggccccact ttctaatgtg ctgacctggc cgtatccttc
     3841 ccctgcctaa agccttgccc tggggcagag tgggtttgga gctcggcctt acttcctgcc
     3901 ctggggatgg aggacaggca gcctcctgtt tctgagcctg tctgctgtac tttgggctgg
     3961 tggcatggcc tcggtgcctc agtcttccca cacgcaaagt ggagcgacag ctcccacctc
     4021 atagggacgc tataagaact agcgatgtgg ggaccgggct aagaggggag ccggccacag
     4081 tgagctcaat aaatgtctgc tgctgcca
//
