DDB2

Chr 11p11.2

damage specific DNA binding protein 2

Aliases:: DDBB, UV-DDB2, FLJ34321, XPE
MANE:: ENST00000256996.9

OMIM: 600811 ↗NCBI: 1643 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DDB2 · Q92466

v62025-08-01

Predicted Aligned Error matrix for DDB2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.6/ 100

Confident

427 residues

Confidence breakdown

Very high(≥ 90)70%
Confident(70–90)13%
Low(50–70)1%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours
BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
BIALLELIC, autosomal or pseudoautosomal
Anophthalmia or microphthalmia
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

xeroderma pigmentosum group E
0.74
Xeroderma pigmentosum complementation group E
0.70
xeroderma pigmentosum
0.52
prostate carcinoma
0.39
skin basal cell carcinoma
0.37
hemangioblastoma
0.37
ovarian endometrioid adenocarcinoma with squamous differentiation
0.37
acute myeloid leukemia
0.33
cardiomyopathy
0.30
mood disorder
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA damage-binding protein 2

Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899, PubMed:32789493, PubMed:9892649). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:12944386, PubMed:14751237, PubMed:16260596, PubMed:32789493). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:12944386, PubMed:16260596). Also functions as the substrate recognition module for the DCX (DDB2-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB2-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1) (PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899, PubMed:26572825). The DDB2-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16473935, PubMed:16678110). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16473935, PubMed:16678110). The DDB2-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). The DDB2-CUL4-ROC1 complex also ubiquitinates KAT7/HBO1 in response to DNA damage, leading to its degradation: recognizes KAT7/HBO1 following phosphorylation by ATR (PubMed:26572825)