LOCUS       NM_001399876            1372 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens damage specific DNA binding protein 2 (DDB2),
            transcript variant 5, mRNA.
ACCESSION   NM_001399876
VERSION     NM_001399876.1
KEYWORDS    RefSeq.
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 1372)
  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 1372)
  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 1372)
  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 1372)
  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 1372)
  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 1372)
  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 1372)
  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 1372)
  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 1372)
  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 1372)
  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 AC090589.9, AC018410.24 and
            KF459540.1.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence 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##
            CDS exon combination :: SRR14038195.1993147.1, AB107037.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968540, SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-221               AC090589.9         104925-105145
            222-414             AC090589.9         105542-105734
            415-551             AC018410.24        146826-146962       c
            552-743             KF459540.1         13-204
            744-908             AC018410.24        125297-125461       c
            909-954             AC018410.24        125115-125160       c
            955-1372            AC018410.24        124081-124498       c
FEATURES             Location/Qualifiers
     source          1..1372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..1372
                     /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..221
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            222..414
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     CDS             288..1004
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="isoform D1 is encoded by transcript variant 5;
                     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 D1"
                     /protein_id="NP_001386805.1"
                     /db_xref="CCDS:CCDS73284.1"
                     /db_xref="GeneID:1643"
                     /db_xref="HGNC:HGNC:2718"
                     /db_xref="MIM:600811"
                     /translation="MAPKKRPETQKTSEIVLRPRNKRSRSPLELEPEAKKLCAKGSGP
                     SRRCDSDCLWVGLAGPQILPPCRSIVRTLHQHKLGRASWPSVQQGLQQSFLHTLDSYR
                     ILQKAAPFDRRATSLAWHPTHPSTVAVGSKGGDIMLWNFGIKDKPTFIKGAAWHPRYN
                     LIVVGRYPDPNFKSCTPYELRTIDVFDGNSGKMMCQLYDPESSGISSLNEFNPMGDTL
                     ASAMGYHILIWSQEEARTRK"
     exon            415..551
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            552..743
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            744..908
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            909..954
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1372
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1353..1358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="hexamer: AATAAA"
     polyA_site      1372
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="major polyA site"
ORIGIN      
        1 ctcctccccg gacccgcaga ggcctggcag cgccgcgttt gaggagggtt cgtgtcagga
       61 agtcaaggct ggatgatcgc ttaagcccag gagttaaaga ccggcccgga caacaaagcg
      121 agaccccgtc tctccagaaa aagaaaaaaa gagagagaga gagagaaatt agccgggcgt
      181 ggtggcgtac gcttgtagtc ccatctactt aggaggctga gaggcctctc aatcctccct
      241 ccatgatctt cgcatagagc acagtacccc ttcacacgga ggacgcgatg gctcccaaga
      301 aacgcccaga aacccagaag acctccgaga ttgtattacg ccccaggaac aagaggagca
      361 ggagtcccct ggagctggag cccgaggcca agaagctctg tgcgaagggc tccggtccta
      421 gcagaagatg tgactcagac tgcctctggg tggggctggc tggcccacag atcctgccac
      481 catgccgcag catcgtcagg accctccacc agcataagct gggcagagct tcctggccat
      541 ctgtccagca ggggctccag cagtcctttt tgcacactct ggattcttac cggatattac
      601 aaaaggctgc cccctttgac aggagggcta catccttggc gtggcaccca actcacccca
      661 gcaccgtggc tgtgggttcc aaagggggag atatcatgct ctggaatttt ggcatcaagg
      721 acaaacccac cttcatcaaa ggggcagcct ggcatcctcg ctacaacctc attgttgtgg
      781 gccgataccc agatcctaat ttcaaaagtt gtacccctta tgaattgagg acgatcgacg
      841 tgttcgatgg aaactcaggg aagatgatgt gtcagctcta tgacccagaa tcttctggca
      901 tcagttcgct taatgaattc aatcccatgg gggacacgct ggcctctgca atgggttacc
      961 acattctcat ctggagccag gaggaagcca ggacacggaa gtgagagaca ctaaagaagg
     1021 tgtgggccag acaaggcctt ggagcccaca catgggatca agtcctgcaa gcagaggtgg
     1081 cgatttgtta aagggccaaa agtatccaag gttagggttg gagcaggggt gctgggacct
     1141 ggggcactgt gggactggga cacttttatg ttaatgctct ggacttgcct ccagagactg
     1201 ctccagagtt ggtgacacag ctgtcccaag ggcccctctg tatctagcct ggaaccaagg
     1261 ttatcttgga actaaatgac ttttctcctc tcagtgggtg gtagcagagg gatcaagcag
     1321 ttatttgatt tgtgctcact tttgatatgg ccaataaaac cataccgact ga
//
