ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)

基因基本信息

基因基本信息

symbol:
ERCC2
locus group:
protein-coding gene
location:
19q13.32
gene_family:
General transcription factors
alias symbol:
MAG|EM9|MGC102762|MGC126218|MGC126219
alias name:
excision repair cross-complementin…
entrez id:
2068
ensembl gene id:
ENSG00000104884
ucsc gene id:
uc002pbj.3
refseq accession:
NM_000400
hgnc_id:
HGNC:3434
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

19q13.32
基因染色体位置图

基因简述

基因简述

ERCC2（Excision Repair Cross-Complementation Group 2）是一种关键的DNA修复基因，属于核苷酸切除修复（NER）通路中的核心成员。它编码的蛋白质是转录因子IIH（TFIIH）复合物的组成部分，该复合物在DNA损伤修复和转录调控中起重要作用。ERCC2的主要功能是通过其DNA解旋酶活性参与识别和修复由紫外线（UV）或化学物质引起的DNA损伤，特别是嘧啶二聚体等大体积损伤。该基因在维持基因组稳定性中至关重要，其突变会导致修复功能缺陷，引发严重的遗传病如着色性干皮病（XP）、科凯恩综合征（CS）或毛发硫营养不良（TTD），患者表现为对光敏感、早衰或神经发育异常。ERCC2属于ERCC基因家族，该家族成员均参与DNA修复，特别是NER通路，共同特点是能够识别并切除受损DNA片段，确保遗传信息完整性。若ERCC2表达降低，细胞会积累DNA损伤，增加突变率和癌症风险（如皮肤癌）；而过度表达虽可能增强修复能力，但可能干扰正常细胞周期调控。ERCC2突变还与多种癌症易感性相关，例如肺癌和膀胱癌，其单核苷酸多态性（SNP）可作为生物标志物预测癌症风险或化疗反应。研究还发现ERCC2与其他修复基因（如XPA、XPC）协同作用，其功能异常会影响整个NER通路效率。

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

核苷酸切除修复途径是修复DNA损伤的机制。由该基因编码的蛋白参与转录偶联核苷酸切除修复和是基础转录因子BTF2 / TFIIH复杂的一个组成部件。该基因产物具有ATP依赖性的DNA解旋酶的活性和属于解旋酶的RAD3 / XPD亚科。在这个基因的缺陷可能导致三种不同的障碍，癌症倾向综合征着色性干皮互补组D，trichothiodystrophy和科凯恩综合征。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的，2008年8月提供]

OMIM数据库中对ERCC2基因的介绍     Wikipedia数据库中对ERCC2基因的介绍

基因序列

基因序列

ERCC2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

ERCC2基因的碱基突变：           仅显示部分snp
rs13181       rs50871       rs50872       rs106433       rs171140       rs238403       rs238404       rs238405       rs238406       rs238407       rs238408       rs238409       rs238410       rs238411       rs238412       rs238413       rs238414      

基因表达

基因表达

ERCC2基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CCCTGATCATGGCATACCA
59
CTCTTCAATCACCTTCTCAATCTC
59
TCATCACATCTGGGACACTG
60
ATCACAGCATAGGGCAGAG
59
TCACATCTGGGACACTGTC
59
TCAAATTTGGAGCTGATGGC
59
TCTGCATCGACTCCATGAG
59
GTCTCTTTGATCCTGAGCAC
58
GAGATTGAGAAGGTGATTGAAGAG
59
CATTTCCCATCGACGTCCT
60
CTGATCATGGCATACCAGAG
58
AGCTCTTCAATCACCTTCTC
57
ATCACATCTGGGACACTGTC
60
AAATTTGGAGCTGATGGCC
59
TCTGCATCGACTCCATGAG
59
TCTCTTTGATCCTGAGCACC
60
GATTGAGAAGGTGATTGAAGAGC
60
CATTTCCCATCGACGTCCT
60
ATCACATCTGGGACACTGTC
60
ATCACAGCATAGGGCAGAG
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
ERCC2
BAX
Activation
22387547
ERCC2
BCL2
Repression
22387547
ERCC2
CDKN1A
Activation
22387547
ERCC2
CPD
Unknown
12713809
ERCC2
E2F1
Unknown
9400991
ERCC2
LAMTOR5
Repression
22387547
ERCC2
TP53
Activation
22387547
ERCC2
XPA
Unknown
24953096
HIF1A
ERCC2
Unknown
19934262

基因本体信息

ERCC2基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

ERCC2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003677
A8MX75 (UniProtKB)
IEA
GO:0004003
A8MX75 (UniProtKB)
IEA
GO:0005524
A8MX75 (UniProtKB)
IEA
GO:0005634
A8MX75 (UniProtKB)
IEA
GO:0006289
A8MX75 (UniProtKB)
IEA
GO:0032508
A8MX75 (UniProtKB)
IEA
GO:0003677
B4E0F6 (UniProtKB)
IEA
GO:0004003
B4E0F6 (UniProtKB)
IEA
GO:0005524
B4E0F6 (UniProtKB)
IEA
GO:0032508
B4E0F6 (UniProtKB)
IEA
GO:0003677
E7EVE9 (UniProtKB)
IEA
GO:0004003
E7EVE9 (UniProtKB)
IEA
GO:0005524
E7EVE9 (UniProtKB)
IEA
GO:0005634
E7EVE9 (UniProtKB)
IEA
GO:0006139
E7EVE9 (UniProtKB)
IEA
GO:0032508
E7EVE9 (UniProtKB)
IEA
GO:0003677
K7EIT8 (UniProtKB)
IEA
GO:0004003
K7EIT8 (UniProtKB)
IEA
GO:0005524
K7EIT8 (UniProtKB)
IEA
GO:0032508
K7EIT8 (UniProtKB)
IEA
GO:0003677
K7EKF3 (UniProtKB)
IEA
GO:0004003
K7EKF3 (UniProtKB)
IEA
GO:0005524
K7EKF3 (UniProtKB)
IEA
GO:0005634
K7EKF3 (UniProtKB)
IEA
GO:0006289
K7EKF3 (UniProtKB)
IEA
GO:0032508
K7EKF3 (UniProtKB)
IEA
GO:0003677
K7ENL1 (UniProtKB)
IEA
GO:0004003
K7ENL1 (UniProtKB)
IEA
GO:0005524
K7ENL1 (UniProtKB)
IEA
GO:0032508
K7ENL1 (UniProtKB)
IEA
GO:0000439
P18074 (UniProtKB)
IEA
GO:0000717
P18074 (UniProtKB)
TAS
GO:0001666
P18074 (UniProtKB)
IEA
GO:0001701
P18074 (UniProtKB)
IEA
GO:0003677
P18074 (UniProtKB)
IEA
GO:0004003
P18074 (UniProtKB)
IEA
GO:0005515
P18074 (UniProtKB)
IPI
GO:0005515
P18074 (UniProtKB)
IPI
GO:0005515
P18074 (UniProtKB)
IPI
GO:0005515
P18074 (UniProtKB)
IPI
GO:0005515
P18074 (UniProtKB)
IPI
GO:0005515
P18074 (UniProtKB)
IPI
GO:0005515
P18074 (UniProtKB)
IPI
GO:0005524
P18074 (UniProtKB)
IEA
GO:0005634
P18074 (UniProtKB)
IDA
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005654
P18074 (UniProtKB)
TAS
GO:0005675
P18074 (UniProtKB)
TAS
GO:0005675
P18074 (UniProtKB)
IDA
GO:0005737
P18074 (UniProtKB)
IDA
GO:0005819
P18074 (UniProtKB)
IDA
GO:0006283
P18074 (UniProtKB)
IDA
GO:0006283
P18074 (UniProtKB)
TAS
GO:0006289
P18074 (UniProtKB)
NAS
GO:0006289
P18074 (UniProtKB)
IGI
GO:0006293
P18074 (UniProtKB)
TAS
GO:0006294
P18074 (UniProtKB)
TAS
GO:0006294
P18074 (UniProtKB)
TAS
GO:0006294
P18074 (UniProtKB)
TAS
GO:0006295
P18074 (UniProtKB)
TAS
GO:0006296
P18074 (UniProtKB)
TAS
GO:0006361
P18074 (UniProtKB)
TAS
GO:0006361
P18074 (UniProtKB)
TAS
GO:0006362
P18074 (UniProtKB)
TAS
GO:0006363
P18074 (UniProtKB)
TAS
GO:0006366
P18074 (UniProtKB)
TAS
GO:0006366
P18074 (UniProtKB)
IDA
GO:0006366
P18074 (UniProtKB)
TAS
GO:0006367
P18074 (UniProtKB)
TAS
GO:0006367
P18074 (UniProtKB)
TAS
GO:0006368
P18074 (UniProtKB)
TAS
GO:0006368
P18074 (UniProtKB)
TAS
GO:0006368
P18074 (UniProtKB)
TAS
GO:0006368
P18074 (UniProtKB)
TAS
GO:0006370
P18074 (UniProtKB)
TAS
GO:0006468
P18074 (UniProtKB)
IEA
GO:0006915
P18074 (UniProtKB)
IMP
GO:0006979
P18074 (UniProtKB)
IMP
GO:0007059
P18074 (UniProtKB)
IMP
GO:0007568
P18074 (UniProtKB)
IEA
GO:0008022
P18074 (UniProtKB)
IPI
GO:0008094
P18074 (UniProtKB)
TAS
GO:0008283
P18074 (UniProtKB)
IEA
GO:0009650
P18074 (UniProtKB)
IGI
GO:0009791
P18074 (UniProtKB)
IEA
GO:0016032
P18074 (UniProtKB)
IEA
GO:0021510
P18074 (UniProtKB)
IEA
GO:0030198
P18074 (UniProtKB)
IEA
GO:0030282
P18074 (UniProtKB)
IEA
GO:0032289
P18074 (UniProtKB)
IEA
GO:0033683
P18074 (UniProtKB)
IMP
GO:0033683
P18074 (UniProtKB)
TAS
GO:0035264
P18074 (UniProtKB)
IEA
GO:0035315
P18074 (UniProtKB)
IMP
GO:0040016
P18074 (UniProtKB)
IEA
GO:0043139
P18074 (UniProtKB)
IDA
GO:0043139
P18074 (UniProtKB)
IDA
GO:0043249
P18074 (UniProtKB)
IEA
GO:0043388
P18074 (UniProtKB)
IEA
GO:0045893
P18074 (UniProtKB)
IDA
GO:0045944
P18074 (UniProtKB)
IDA
GO:0046872
P18074 (UniProtKB)
IEA
GO:0047485
P18074 (UniProtKB)
IPI
GO:0047485
P18074 (UniProtKB)
IPI
GO:0047485
P18074 (UniProtKB)
IPI
GO:0048820
P18074 (UniProtKB)
IEA
GO:0051539
P18074 (UniProtKB)
IEA
GO:0060218
P18074 (UniProtKB)
IEA
GO:0070911
P18074 (UniProtKB)
TAS
GO:0071817
P18074 (UniProtKB)
IDA
GO:1901990
P18074 (UniProtKB)
IMP
GO:0019907
P18074 (UniProtKB)
IDA
GO:0019907
P18074 (UniProtKB)
IDA
GO:0004672
P18074 (UniProtKB)
IDA
GO:0008094
P18074 (UniProtKB)
IDA
GO:0008353
P18074 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 ERCC2基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Xeroderma Pigmentosum, Complementation Group D 0.565428837 25 9 BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
Photosensitive Trichothiodystrophy 0.44 6 6 CLINVAR_CTD_human_MGD_UNIPROT
Cerebrooculofacioskeletal Syndrome 2 0.36 1 2 CLINVAR_CTD_human_UNIPROT
Cerebrooculofacioskeletal Syndrome 1 0.240542884 2 2 BeFree_CLINVAR_ORPHANET
Malignant neoplasm of lung 0.213843535 78 18 BeFree_GAD_GWASCAT
Squamous cell carcinoma 0.175575822 23 2 BeFree_CTD_human_GAD_LHGDN
Skin Neoplasms 0.151486052 11 0 CTD_human_GAD_LHGDN
Stomach Neoplasms 0.144027638 9 0 CTD_human_GAD_LHGDN
Colorectal Neoplasms 0.142732561 9 0 CTD_human_GAD_LHGDN
Trichothiodystrophy Syndromes 0.137915164 66 2 BeFree_ORPHANET

基因相关服务

基因相关服务

联系方式

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