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  2. DDB2 - damage specific DNA binding protein 2 Gene

DDB2 - damage specific DNA binding protein 2 Gene

中文名称:损伤特异性 DNA 结合蛋白 2

种属: Homo sapiens

同用名: XPE; DDBB; UV-DDB2

基因 ID: 1643 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是修复紫外线损伤 DNA 所必需的。该蛋白是参与核苷酸切除修复的异二聚体蛋白复合物的较小亚基,该复合物介导组蛋白 H3 和 H4 的泛素化,从而促进细胞对 DNA 损伤的反应。该亚基似乎是 DNA 结合所必需的。该基因的突变导致着色性干皮病互补组 E,这是一种隐性疾病,其特征是对紫外线的敏感性增加和皮肤癌发展的高易感性,在某些情况下还伴有神经系统异常。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2014 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to damaged DNA binding IDA
IDA: 通过直接分析推断
22334663 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9418871 GOA
enables protein-containing complex binding IPI
IPI: 通过物理相互作用推断
11564863 GOA
contributes to ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
12732143 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response EXP
EXP: 通过实验结果推断
22118460 GOA
involved in UV-damage excision repair IDA
IDA: 通过直接分析推断
14751237 GOA
involved in cellular response to UV EXP
EXP: 通过实验结果推断
22118460 GOA
involved in nucleotide-excision repair IDA
IDA: 通过直接分析推断
19109893 GOA
involved in protein autoubiquitination IDA
IDA: 通过直接分析推断
12732143 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
12732143 GOA
involved in response to UV IDA
IDA: 通过直接分析推断
12732143 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Cul4-RING E3 ubiquitin ligase complex IMP
IMP: 通过突变表型推断
16949367 GOA
part of Cul4A-RING E3 ubiquitin ligase complex EXP
EXP: 通过实验结果推断
22118460 GOA
part of Cul4B-RING E3 ubiquitin ligase complex IDA
IDA: 通过直接分析推断
22334663 GOA
located in nucleus IDA
IDA: 通过直接分析推断
14751237 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
12732143 GOA
is active in site of DNA damage IDA
IDA: 通过直接分析推断
19109893 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DDB2 蛋白结构

WD40

WD40: WD domain, G-beta repeat (115 - 140)

WD40

WD40: WD domain, G-beta repeat (233 - 271)

WD40

WD40: WD domain, G-beta repeat (287 - 316)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 427 a.a.
蛋白主名 其他名称

DNA damage-binding protein 2

DDB p48 subunit

DDB2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DDB2 Q92466 XPC Homo sapiens Q01831-1 22039351
种属内
DDB2 Q92466 XPC Homo sapiens Q01831-1 22039351
种属内
DDB2 Q92466 DDB1 Homo sapiens Q16531 19109893
种属内
DDB2 Q92466 DDB1 Homo sapiens Q16531 22039351
种属内
DDB2 Q92466 DDB1 Homo sapiens Q16531 28514442
种属内
DDB2 Q92466 DDB1 Homo sapiens Q16531 33961781
种属内
DDB2 Q92466 DDB1 Homo sapiens Q16531 17041588
种属内
DDB2 Q92466 DDB1 Homo sapiens Q16531 16473935
种属内
DDB2 Q92466 E2F1 Homo sapiens Q01094 9418871
种属内
DDB2 Q92466 E2F1 Homo sapiens Q01094 9418871
种属内
DDB2 Q92466 CUL4A Homo sapiens Q13619 28514442
种属内
DDB2 Q92466 CUL4A Homo sapiens Q13619 33961781
种属内
DDB2 Q92466 CUL4A Homo sapiens Q13619 16473935
种属内
DDB2 Q92466 CUL4A Homo sapiens Q13619 26496610
种属间: 跨种属相互作用 种属内: 同种属相互作用

DDB2 抗体

目录号 产品名 应用 反应物种
HY-P82382 DDB2 Antibody (YA2127) WB, IHC-P, ICC/IF, FC Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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