DDB2 - damage specific DNA binding protein 2 Gene

Also Known as XPE; DDBB; UV-DDB2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1643

About DDB2

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,214,454-47,239,217 (from NCBI)

This gene has 16 transcripts (splice variants), 190 orthologues and is associated with 60 phenotypes. Ubiquitous expression in skin (RPKM 32.0), esophagus (RPKM 13.6) and 24 other tissues.

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]

DDB2 Products (6)

mRNA	Protein	Name
NM_000107.3	NP_000098.1	DNA damage-binding protein 2 isoform WT
NM_001300734.2	NP_001287663.1	DNA damage-binding protein 2 isoform D1
NM_001399874.1	NP_001386803.1	DNA damage-binding protein 2 isoform WT
NM_001399875.1	NP_001386804.1	DNA damage-binding protein 2 isoform WT
NM_001399876.1	NP_001386805.1	DNA damage-binding protein 2 isoform D1
NM_001399878.1	NP_001386807.1	DNA damage-binding protein 2 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to damaged DNA binding	IDA IDA: Inferred from direct assay	22334663	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9418871	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	11564863	GOA
contributes to ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	12732143	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	EXP EXP: Inferred from Experiment	22118460	GOA
involved in UV-damage excision repair	IDA IDA: Inferred from direct assay	14751237	GOA
involved in cellular response to UV	EXP EXP: Inferred from Experiment	22118460	GOA
involved in nucleotide-excision repair	IDA IDA: Inferred from direct assay	19109893	GOA
involved in protein autoubiquitination	IDA IDA: Inferred from direct assay	12732143	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	12732143	GOA
involved in response to UV	IDA IDA: Inferred from direct assay	12732143	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Cul4-RING E3 ubiquitin ligase complex	IMP IMP: Inferred from mutant phenotype	16949367	GOA
part of Cul4A-RING E3 ubiquitin ligase complex	EXP EXP: Inferred from Experiment	22118460	GOA
part of Cul4B-RING E3 ubiquitin ligase complex	IDA IDA: Inferred from direct assay	22334663	GOA
located in nucleus	IDA IDA: Inferred from direct assay	14751237	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	12732143	GOA
is active in site of DNA damage	IDA IDA: Inferred from direct assay	19109893	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DDB2 Protein Structure

WD40

0
100
200
300
400
427 a.a.

Protein Preferred Names	Protein Names
DNA damage-binding protein 2	DDB p48 subunit

DDB2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DDB2	Q92466	XPC	Homo sapiens	Q01831-1	Pull Down	22039351
Intra	DDB2	Q92466	XPC	Homo sapiens	Q01831-1	Anti Tag CoIP	22039351
Intra	DDB2	Q92466	DDB1	Homo sapiens	Q16531	X-Ray Diffraction	19109893
Intra	DDB2	Q92466	DDB1	Homo sapiens	Q16531	Anti Tag CoIP	22039351
Intra	DDB2	Q92466	DDB1	Homo sapiens	Q16531	Anti Tag CoIP	28514442
Intra	DDB2	Q92466	DDB1	Homo sapiens	Q16531	Anti Tag CoIP	33961781
Intra	DDB2	Q92466	DDB1	Homo sapiens	Q16531	Anti Bait CoIP	17041588
Intra	DDB2	Q92466	DDB1	Homo sapiens	Q16531	Anti Bait CoIP	16473935
Intra	DDB2	Q92466	E2F1	Homo sapiens	Q01094	Anti Tag CoIP	9418871
Intra	DDB2	Q92466	E2F1	Homo sapiens	Q01094	Pull Down	9418871
Intra	DDB2	Q92466	CUL4A	Homo sapiens	Q13619	Anti Tag CoIP	28514442
Intra	DDB2	Q92466	CUL4A	Homo sapiens	Q13619	Anti Tag CoIP	33961781
Intra	DDB2	Q92466	CUL4A	Homo sapiens	Q13619	Anti Bait CoIP	16473935
Intra	DDB2	Q92466	CUL4A	Homo sapiens	Q13619	Anti Tag CoIP	26496610

Cross: Cross-species interaction Intra: Intraspecies interaction

DDB2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82382	DDB2 Antibody (YA2127)	WB, IHC-P, ICC/IF, FC	Human

Related Diseases

Diseases	Alias
Xeroderma Pigmentosum, Complementation Group E	Xeroderma Pigmentosum V Xp5 Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype Xpe Xp, Group E Xeroderma Pigmentosum, Type 5 Xeroderma Pigmentosum Complementation Group E XP-E Xp Group E
Xeroderma Pigmentosum Group E	Xeroderma Pigmentosum, Group E Xeroderma Pigmentosum V Xp Group E Xp5 Xpe Xeroderma Pigmentosum, Complementation Group E
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Xeroderma Pigmentosum, Complementation Group C	Xeroderma Pigmentosum, Group C XPC Xpcc Xeroderma Pigmentosum Iii Xp3 Xeroderma Pigmentosum Group C Xp Group C Xp, Group C Xeroderma Pigmentosum, Type 3 Xeroderma Pigmentosum Complementation Group C XP-C
Xeroderma Pigmentosum, Complementation Group F	Xeroderma Pigmentosum, Group F Xeroderma Pigmentosum Vi Xp6 Xeroderma Pigmentosum, Type F/Cockayne Syndrome XPF Xp, Group F Xeroderma Pigmentosum Group F Xp Group F Xeroderma Pigmentosum, Type 6 Xeroderma Pigmentosum Complementation Group F XP-F Xeroderma Pigmentosum Type F/Cockayne Syndrome XPF/CS
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum Vii Xp7 XPG Xeroderma Pigmentosum Group G Xp Group G Xp, Group G Xpgc Xeroderma Pigmentosum, Group G/Cockayne Syndrome Xeroderma Pigmentosum, Type 7 Xeroderma Pigmentosum Complementation Group G XP-G Xp-G/Cs Xeroderma Pigmentosum Group G/Cockayne Syndrome
Cockayne Syndrome A	Cockayne Syndrome Type 1 Cockayne Syndrome, Type A Cockayne Syndrome Type I CSA Cockayne Syndrome Classic Form Cockayne Syndrome Classical Cockayne Syndrome Type A Ckn1
Uv-Sensitive Syndrome	Uvss Uv Sensitive Syndrome Ultraviolet Sensitive Syndrome
Xeroderma Pigmentosum, Complementation Group A	Xeroderma Pigmentosum Group A Xp1 Xeroderma Pigmentosum, Group A XPA Xeroderma Pigmentosum I Xeroderma Pigmentosum Complementation Group A Xp Group A Xp, Group A Xeroderma Pigmentosum 1 Xeroderma Pigmentosum, Type 1 XP-A
Cockayne Syndrome B	Cockayne Syndrome Type 2 Cockayne Syndrome, Type B Cockayne Syndrome Type Ii CSB Cockayne Syndrome 2 Cockayne Syndrome Type B Ckn2 Cockayne Syndrome, Type Ii
De Sanctis-Cacchione Syndrome	Xerodermic Idiocy Xeroderma Pigmentosum With Neurologic Manifestation DSC Xerodermic Idiocy Of De Sanctis And Cacchione
Trichothiodystrophy 3, Photosensitive	TTD3 Trichothiodystrophy, Complementation Group A Ttda Photosensitive Trichothiodystrophy 3 Trichothiodystrophy Complementation Group A
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03607	DDB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18473	Ddb2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24954	Ddb2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DDB2	VGNC	VGNC:39830
Mus musculus	DDB2	MGD	MGI:1355314
Bos taurus	DDB2	VGNC	VGNC:27942
Felis catus	DDB2	VGNC	VGNC:61387
Rattus norvegicus	DDB2	RGD	RGD:1310164
Others	DDB2	NCBI