Format

Send to:

Choose Destination
    • Showing Current items.

    DDB2 damage specific DNA binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 1643, updated on 5-Sep-2021

    Summary

    Official Symbol
    DDB2provided by HGNC
    Official Full Name
    damage specific DNA binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:2718
    See related
    Ensembl:ENSG00000134574 MIM:600811
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    XPE; DDBB; UV-DDB2
    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]
    Expression
    Ubiquitous expression in skin (RPKM 32.0), esophagus (RPKM 13.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DDB2 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (47214969..47239218)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47236525..47260768)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene protein kinase C and casein kinase substrate in neurons 3 Neighboring gene microRNA 6745 Neighboring gene ribosomal protein S20 pseudogene 26 Neighboring gene acid phosphatase 2, lysosomal Neighboring gene nuclear receptor subfamily 1 group H member 3 Neighboring gene Sharpr-MPRA regulatory region 2100

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne.
    GeneReviews: Not available
    Xeroderma pigmentosum, group E
    MedGen: C1848411 OMIM: 278740 GeneReviews: Xeroderma Pigmentosum
    not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr interferes with the interaction of DDB1 and DDB2 in cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ34321

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to damaged DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in UV-damage excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in histone H2A monoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleotide-excision repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyrimidine dimer repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to UV IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Cul4-RING E3 ubiquitin ligase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of Cul4B-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA damage-binding protein 2
    Names
    DDB p48 subunit
    UV-DDB 2
    UV-damaged DNA-binding protein 2
    damage-specific DNA binding protein 2, 48kDa
    xeroderma pigmentosum group E protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009365.1 RefSeqGene

      Range
      5001..29277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_467

    mRNA and Protein(s)

    1. NM_000107.3NP_000098.1  DNA damage-binding protein 2 isoform WT

      See identical proteins and their annotated locations for NP_000098.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (WT) represents the longer transcript and encodes the longer isoform (WT).
      Source sequence(s)
      AA278953, U18300
      Consensus CDS
      CCDS7927.1
      UniProtKB/Swiss-Prot
      Q92466
      Related
      ENSP00000256996.4, ENST00000256996.9
      Conserved Domains (2) summary
      sd00039
      Location:115154
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:115419
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_001300734.2NP_001287663.1  DNA damage-binding protein 2 isoform D1

      See identical proteins and their annotated locations for NP_001287663.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (D1) lacks four consecutive alternate exons compared to variant WT, without a reading frame change. The resulting isoform (D1) has the same N- and C-termini but is shorter compared to isoform WT.
      Source sequence(s)
      AA278953, AB107037, DB053816
      Consensus CDS
      CCDS73284.1
      UniProtKB/Swiss-Prot
      Q92466
      Related
      ENSP00000367863.3, ENST00000378600.7
      Conserved Domains (2) summary
      COG2319
      Location:115230
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:114151
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      47214969..47239218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_242780.4 RNA Sequence

      Related
      ENST00000378601.7
    Support Center