DDB2 - damage specific DNA binding protein 2 Gene

Homo sapiens

Also known as XPE; DDBB; UV-DDB2

Gene ID: 1643 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03607	DDB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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