LOCUS       NM_000107               1815 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens damage specific DNA binding protein 2 (DDB2),
            transcript variant WT, mRNA.
ACCESSION   NM_000107
VERSION     NM_000107.3
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 1815)
  AUTHORS   Zhang,C., Li,W., Liu,L., Li,M., Sun,H., Zhang,C., Zhong,L.,
            Huang,J. and Li,T.
  TITLE     DDB2 promotes melanoma cell growth by transcriptionally regulating
            the expression of KMT2A and predicts a poor prognosis
  JOURNAL   FASEB J 38 (12), e23735 (2024)
   PUBMED   38860936
  REMARK    GeneRIF: DDB2 promotes melanoma cell growth by transcriptionally
            regulating the expression of KMT2A and predicts a poor prognosis.
REFERENCE   2  (bases 1 to 1815)
  AUTHORS   de Souza Timoteo,A.R., Pinheiro de Almeida,I.C., Yurchenko,A.A., de
            Miranda Henriques,S.R., de Souza Segundo,P., Rajabi,F., Nikolaev,S.
            and Petta,T.B.
  TITLE     Brazilian XP-E siblings carrying a novel DDB2 variant developed
            early-onset melanoma: a case report
  JOURNAL   BMC Med Genomics 16 (1), 186 (2023)
   PUBMED   37573316
  REMARK    GeneRIF: Brazilian XP-E siblings carrying a novel DDB2 variant
            developed early-onset melanoma: a case report.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1815)
  AUTHORS   Schule,S., Bristy,E.A., Muhtadi,R., Kaletka,G., Stewart,S.,
            Ostheim,P., Hermann,C., Asang,C., Pleimes,D., Port,M. and Abend,M.
  TITLE     Four Genes Predictive for the Severity of Hematological Damage
            Reveal a Similar Response after X Irradiation and Chemotherapy
  JOURNAL   Radiat Res 199 (2), 115-123 (2023)
   PUBMED   36480042
  REMARK    GeneRIF: Four Genes Predictive for the Severity of Hematological
            Damage Reveal a Similar Response after X Irradiation and
            Chemotherapy.
REFERENCE   4  (bases 1 to 1815)
  AUTHORS   Wang,X., Huang,Z., Li,L., Yang,Y., Zhang,J., Wang,L., Yuan,J. and
            Li,Y.
  TITLE     The Role of Alternative Splicing Factors, DDB2-Related Ageing and
            DNA Damage Repair in the Progression and Prognosis of Stomach
            Adenocarcinoma Patients
  JOURNAL   Genes (Basel) 14 (1), 39 (2022)
   PUBMED   36672781
  REMARK    GeneRIF: The Role of Alternative Splicing Factors, DDB2-Related
            Ageing and DNA Damage Repair in the Progression and Prognosis of
            Stomach Adenocarcinoma Patients.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1815)
  AUTHORS   Li,C., Zhang,A., Hu,T., Yang,Y., Tang,S. and Li,J.
  TITLE     Histone demethylase JHDM2A participates in the repair of
            arsenic-induced DNA damage in L-02 cells by regulating DDB2
  JOURNAL   Toxicol Ind Health 38 (6), 365-376 (2022)
   PUBMED   35579678
  REMARK    GeneRIF: Histone demethylase JHDM2A participates in the repair of
            arsenic-induced DNA damage in L-02 cells by regulating DDB2.
REFERENCE   6  (bases 1 to 1815)
  AUTHORS   Hayes,S., Shiyanov,P., Chen,X. and Raychaudhuri,P.
  TITLE     DDB, a putative DNA repair protein, can function as a
            transcriptional partner of E2F1
  JOURNAL   Mol Cell Biol 18 (1), 240-249 (1998)
   PUBMED   9418871
REFERENCE   7  (bases 1 to 1815)
  AUTHORS   Nichols,A.F., Ong,P. and Linn,S.
  TITLE     Mutations specific to the xeroderma pigmentosum group E Ddb-
            phenotype
  JOURNAL   J Biol Chem 271 (40), 24317-24320 (1996)
   PUBMED   8798680
REFERENCE   8  (bases 1 to 1815)
  AUTHORS   Dualan,R., Brody,T., Keeney,S., Nichols,A.F., Admon,A. and Linn,S.
  TITLE     Chromosomal localization and cDNA cloning of the genes (DDB1 and
            DDB2) for the p127 and p48 subunits of a human damage-specific DNA
            binding protein
  JOURNAL   Genomics 29 (1), 62-69 (1995)
   PUBMED   8530102
REFERENCE   9  (bases 1 to 1815)
  AUTHORS   Keeney,S., Chang,G.J. and Linn,S.
  TITLE     Characterization of a human DNA damage binding protein implicated
            in xeroderma pigmentosum E
  JOURNAL   J Biol Chem 268 (28), 21293-21300 (1993)
   PUBMED   8407967
REFERENCE   10 (bases 1 to 1815)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U18300.1 and AA278953.1.
            
            On Nov 30, 2019 this sequence version replaced NM_000107.2.
            
            Summary: This gene encodes a protein that is necessary for the
            repair of ultraviolet light-damaged DNA. This protein is the
            smaller subunit of a heterodimeric protein complex that
            participates in nucleotide excision repair, and this complex
            mediates the ubiquitylation of histones H3 and H4, which
            facilitates the cellular response to DNA damage. This subunit
            appears to be required for DNA binding. Mutations in this gene
            cause xeroderma pigmentosum complementation group E, a recessive
            disease that is characterized by an increased sensitivity to UV
            light and a high predisposition for skin cancer development, in
            some cases accompanied by neurological abnormalities. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (WT) represents the longer
            transcript and encodes the longer isoform (WT).
            
            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 :: BC000093.2, U18300.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000256996.9/ ENSP00000256996.4
            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
            1-1523              U18300.1           13-1535
            1524-1815           AA278953.1         24-315              c
FEATURES             Location/Qualifiers
     source          1..1815
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..1815
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="damage specific DNA binding protein 2"
                     /db_xref="GeneID:1643"
                     /db_xref="HGNC:HGNC:2718"
                     /db_xref="MIM:600811"
     exon            1..290
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     CDS             164..1447
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="isoform WT is encoded by transcript variant WT;
                     xeroderma pigmentosum group E protein; UV-damaged
                     DNA-binding protein 2; DDB p48 subunit; DNA damage-binding
                     protein 2; damage-specific DNA binding protein 2, 48kDa"
                     /codon_start=1
                     /product="DNA damage-binding protein 2 isoform WT"
                     /protein_id="NP_000098.1"
                     /db_xref="CCDS:CCDS7927.1"
                     /db_xref="GeneID:1643"
                     /db_xref="HGNC:HGNC:2718"
                     /db_xref="MIM:600811"
                     /translation="MAPKKRPETQKTSEIVLRPRNKRSRSPLELEPEAKKLCAKGSGP
                     SRRCDSDCLWVGLAGPQILPPCRSIVRTLHQHKLGRASWPSVQQGLQQSFLHTLDSYR
                     ILQKAAPFDRRATSLAWHPTHPSTVAVGSKGGDIMLWNFGIKDKPTFIKGIGAGGSIT
                     GLKFNPLNTNQFYASSMEGTTRLQDFKGNILRVFASSDTINIWFCSLDVSASSRMVVT
                     GDNVGNVILLNMDGKELWNLRMHKKKVTHVALNPCCDWFLATASVDQTVKIWDLRQVR
                     GKASFLYSLPHRHPVNAACFSPDGARLLTTDQKSEIRVYSASQWDCPLGLIPHPHRHF
                     QHLTPIKAAWHPRYNLIVVGRYPDPNFKSCTPYELRTIDVFDGNSGKMMCQLYDPESS
                     GISSLNEFNPMGDTLASAMGYHILIWSQEEARTRK"
     exon            291..427
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            428..619
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            620..765
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            766..865
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            866..1043
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..1186
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            1187..1351
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..1397
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            1398..1815
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1796..1801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="hexamer: AATAAA"
     polyA_site      1815
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="major polyA site"
ORIGIN      
        1 ggtttgaaca agccctgggc atgtttggcg ggaagttggc ttagctcggc tacctgtggc
       61 cccgcagttt tgtagtcccc gccttgtttc tccccagagg cctctcaatc ctccctccat
      121 gatcttcgca tagagcacag taccccttca cacggaggac gcgatggctc ccaagaaacg
      181 cccagaaacc cagaagacct ccgagattgt attacgcccc aggaacaaga ggagcaggag
      241 tcccctggag ctggagcccg aggccaagaa gctctgtgcg aagggctccg gtcctagcag
      301 aagatgtgac tcagactgcc tctgggtggg gctggctggc ccacagatcc tgccaccatg
      361 ccgcagcatc gtcaggaccc tccaccagca taagctgggc agagcttcct ggccatctgt
      421 ccagcagggg ctccagcagt cctttttgca cactctggat tcttaccgga tattacaaaa
      481 ggctgccccc tttgacagga gggctacatc cttggcgtgg cacccaactc accccagcac
      541 cgtggctgtg ggttccaaag ggggagatat catgctctgg aattttggca tcaaggacaa
      601 acccaccttc atcaaaggga ttggagctgg agggagcatc actgggctga agtttaaccc
      661 tctcaatacc aaccagtttt acgcctcctc aatggaggga acaactaggc tgcaagactt
      721 taaaggcaac attctacgag tttttgccag ctcagacacc atcaacatct ggttttgtag
      781 cctggatgtg tctgctagta gccgaatggt ggtcacagga gacaacgtgg ggaacgtgat
      841 cctgctgaac atggacggca aagagctttg gaatctcaga atgcacaaaa agaaagtgac
      901 gcatgtggcc ctgaacccat gctgtgattg gttcctggcc acagcctccg tagatcaaac
      961 agtgaaaatt tgggacctgc gccaggttag agggaaagcc agcttcctct actcgctgcc
     1021 gcacaggcat cctgtcaacg cagcttgttt cagtcccgat ggagcccggc tcctgaccac
     1081 ggaccagaag agcgagatcc gagtttactc tgcttcccag tgggactgcc ccctgggcct
     1141 gatcccgcac cctcaccgtc acttccagca cctcacaccc atcaaggcag cctggcatcc
     1201 tcgctacaac ctcattgttg tgggccgata cccagatcct aatttcaaaa gttgtacccc
     1261 ttatgaattg aggacgatcg acgtgttcga tggaaactca gggaagatga tgtgtcagct
     1321 ctatgaccca gaatcttctg gcatcagttc gcttaatgaa ttcaatccca tgggggacac
     1381 gctggcctct gcaatgggtt accacattct catctggagc caggaggaag ccaggacacg
     1441 gaagtgagag acactaaaga aggtgtgggc cagacaaggc cttggagccc acacatggga
     1501 tcaagtcctg caagcagagg tggcgatttg ttaaagggcc aaaagtatcc aaggttaggg
     1561 ttggagcagg ggtgctggga cctggggcac tgtgggactg ggacactttt atgttaatgc
     1621 tctggacttg cctccagaga ctgctccaga gttggtgaca cagctgtccc aagggcccct
     1681 ctgtatctag cctggaacca aggttatctt ggaactaaat gacttttctc ctctcagtgg
     1741 gtggtagcag agggatcaag cagttatttg atttgtgctc acttttgata tggccaataa
     1801 aaccataccg actga
//
