• Gene id: 1643

Gene Summary

• Gene Symbol: DDB2   Gene   UCSC   Ensembl
• Aliases: DDBB, UV-DDB2, XPE
• Gene name: damage specific DNA binding protein 2
• Alternate names: DNA damage-binding protein 2, DDB p48 subunit, UV-DDB 2, UV-damaged DNA-binding protein 2, damage-specific DNA binding protein 2, 48kDa, xeroderma pigmentosum group E protein,
• Gene location: 11p11.2 (29926225: 29906334)     Exons: 9     NC_000016.10
• Gene summary(Entrez): 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 ubiquityla
• OMIM: 600811

Protein Summary

• Protein general information: Q92466  
  • Name: DNA damage binding protein 2 (DDB p48 subunit) (DDBb) (Damage specific DNA binding protein 2) (UV damaged DNA binding protein 2) (UV DDB 2)
  • Length: 427  
  • Mass: 47864
  • Tissue specificity: Ubiquitously expressed; with highest levels in corneal endothelium and lowest levels in brain. Isoform D1 is highly expressed in brain and heart. Isoform D2, isoform D3 and isoform D4 are weakly expressed. {ECO
• Sequence:

  MAPKKRPETQKTSEIVLRPRNKRSRSPLELEPEAKKLCAKGSGPSRRCDSDCLWVGLAGPQILPPCRSIVRTLHQ
  HKLGRASWPSVQQGLQQSFLHTLDSYRILQKAAPFDRRATSLAWHPTHPSTVAVGSKGGDIMLWNFGIKDKPTFI
  KGIGAGGSITGLKFNPLNTNQFYASSMEGTTRLQDFKGNILRVFASSDTINIWFCSLDVSASSRMVVTGDNVGNV
  ILLNMDGKELWNLRMHKKKVTHVALNPCCDWFLATASVDQTVKIWDLRQVRGKASFLYSLPHRHPVNAACFSPDG
  ARLLTTDQKSEIRVYSASQWDCPLGLIPHPHRHFQHLTPIKAAWHPRYNLIVVGRYPDPNFKSCTPYELRTIDVF
  DGNSGKMMCQLYDPESSGISSLNEFNPMGDTLASAMGYHILIWSQEEARTRK

• Structural information:
  • Interpro: IPR033312  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 3EI4 3I7L 4E54 4E5Z 6R8Y 6R8Z 6R90 6R91 6R92
  • PDBsum: 3EI4 3I7L 4E54 4E5Z 6R8Y 6R8Z 6R90 6R91 6R92
  • DIP: 36670
  • STRING: ENSP00000256996
• Other Databases: GeneCards:  DDB2  Malacards:  DDB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003684	damaged DNA binding	IBA	contributes to
GO:0005634	nucleus	IBA	cellular component
GO:0009411	response to UV	IBA	biological process
GO:0006281	DNA repair	IBA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0003684	damaged DNA binding	TAS	molecular function
GO:0006281	DNA repair	TAS	biological process
GO:0006289	nucleotide-excision repair	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0000715	nucleotide-excision repair, DNA damage recognition	TAS	biological process
GO:0000717	nucleotide-excision repair, DNA duplex unwinding	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	TAS	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0043687	post-translational protein modification	TAS	biological process
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006290	pyrimidine dimer repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0070914	UV-damage excision repair	IDA	biological process
GO:0035518	histone H2A monoubiquitination	IDA	biological process
GO:0003684	damaged DNA binding	IDA	contributes to
GO:0009411	response to UV	IDA	biological process
GO:0031465	Cul4B-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05169	Epstein-Barr virus infection
hsa04120	Ubiquitin mediated proteolysis
hsa05202	Transcriptional misregulation in cancer
hsa05225	Hepatocellular carcinoma
hsa05226	Gastric cancer
hsa05161	Hepatitis B
hsa05224	Breast cancer
hsa05222	Small cell lung cancer
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05217	Basal cell carcinoma
hsa05214	Glioma
hsa05212	Pancreatic cancer
hsa05218	Melanoma
hsa04115	p53 signaling pathway
hsa05223	Non-small cell lung cancer
hsa05213	Endometrial cancer
hsa03420	Nucleotide excision repair
hsa05216	Thyroid cancer

Diseases

Associated diseases	References
Disorders of nucleotide excision repair	KEGG:H00403
Xeroderma pigmentosum	KEGG:H01428
Disorders of nucleotide excision repair	KEGG:H00403
Xeroderma pigmentosum	KEGG:H01428
Xeroderma pigmentosum	PMID:8798680
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray