DDB2
DNA damage-binding protein 2
Also known as: DDB2_HUMAN, DDBB, FLJ34321, UV-DDB2, XPE
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92466
- Gene
- DDB2
- Ensembl
- ENSG00000134574
- Chromosome
- 11
- Canonical length
- 427 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cell Junctions
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
427 residues, UniProt reviewed canonical sequence.
>Q92466|DDB2
1 MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP
61 QILPPCRSIV RTLHQHKLGR ASWPSVQQGL QQSFLHTLDS YRILQKAAPF DRRATSLAWH
121 PTHPSTVAVG SKGGDIMLWN FGIKDKPTFI KGIGAGGSIT GLKFNPLNTN QFYASSMEGT
181 TRLQDFKGNI LRVFASSDTI NIWFCSLDVS ASSRMVVTGD NVGNVILLNM DGKELWNLRM
241 HKKKVTHVAL NPCCDWFLAT ASVDQTVKIW DLRQVRGKAS FLYSLPHRHP VNAACFSPDG
301 ARLLTTDQKS EIRVYSASQW DCPLGLIPHP HRHFQHLTPI KAAWHPRYNL IVVGRYPDPN
361 FKSCTPYELR TIDVFDGNSG KMMCQLYDPE SSGISSLNEF NPMGDTLASA MGYHILIWSQ
421 EEARTRKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DDB2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 44 nTPM
Expression across tissuesHPA
Tissue
- skin: 44 nTPM
- liver: 25 nTPM
- esophagus: 23 nTPM
- thymus: 22 nTPM
- adrenal gland: 22 nTPM
- blood vessel: 21 nTPM
Single-cell type
- adrenal cortex cells: 121 nCPM
- esophageal basal cells: 96 nCPM
- respiratory basal cells: 66 nCPM
- basal prostatic cells: 65 nCPM
- monocyte progenitors: 64 nCPM
- microglia: 63 nCPM
Immune cell
- T-reg: 48 nTPM
- eosinophil: 20 nTPM
- memory CD4 T-cell: 20 nTPM
- gdT-cell: 19 nTPM
- MAIT T-cell: 19 nTPM
- memory CD8 T-cell: 19 nTPM
Brain region
- white matter: 5.7 nTPM
- cerebral cortex: 5.6 nTPM
- medulla oblongata: 5.4 nTPM
- choroid plexus: 5.2 nTPM
- cerebellum: 5.1 nTPM
- pons: 5.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DDB2.
Disease | AllUniProt
Conditions DDB2 is implicated in, by any mechanism.
- Xeroderma pigmentosum complementation group E (XP-E) MIM:278740
Disease | GeneticClinVar
15 pathogenic / likely-pathogenic of 176 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Xeroderma pigmentosum, group E
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.85
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.22
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to UV
- DNA damage response
- DNA repair
- nucleotide-excision repair
- protein autoubiquitination
- protein polyubiquitination
- pyrimidine dimer repair
- response to UV
- UV-damage excision repair
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DDB2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DDB2 as an antibody target. Whether an autoantibody or antibody against DDB2 could matter depends on whether native DDB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DDB2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DDB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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