ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)

基因基本信息

基因基本信息

symbol:
ERCC4
locus group:
protein-coding gene
location:
16p13.12
gene_family:
alias symbol:
RAD1|FANCQ
alias name:
xeroderma pigmentosum, complemen...
entrez id:
2072
ensembl gene id:
ENSG00000175595
ucsc gene id:
uc002dce.3
refseq accession:
NM_005236
hgnc_id:
HGNC:3436
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

16p13.12

基因简述

基因简述

ERCC4（也称为 XPF）是ERCC4-XPF核酸酶复合物的关键组成部分，属于结构特异性核酸内切酶家族。它主要参与DNA损伤修复，特别是核苷酸切除修复（NER）和链间交联（ICL）修复。ERCC4与ERCC1形成异源二聚体，共同识别并切割受损DNA链，在修复紫外线诱导的嘧啶二聚体及化学交联损伤中起核心作用。该基因的突变会导致严重的遗传病，如着色性干皮病（XP）、范可尼贫血（FA）和早老症，表现为对紫外线极度敏感、发育障碍或癌症易感性增加。若ERCC4表达降低，机体DNA修复能力受损，导致突变积累和基因组不稳定，可能诱发肿瘤或加速衰老；过表达则可能干扰正常DNA代谢，但目前研究较少。ERCC4属于ERCC（切除修复交叉互补）基因家族，该家族成员均参与DNA修复，特点是编码的蛋白质能识别多种DNA损伤形式并通过切割或解旋协助修复。ERCC家族基因突变通常与基因组不稳定性疾病相关，凸显其在维持遗传信息完整性中的保守性。

中文English

无

OMIM数据库中对ERCC4基因的介绍     Wikipedia数据库中对ERCC4基因的介绍

基因序列

基因序列

ERCC4基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MESGQPARRI AMAPLLEYER QLVLELLDTD GLVVCARGLG
41ADRLLYHFLQ LHCHPACLVL VLNTQPAEEE YFINQLKIEG
81 VEHLPRRVT NEITSNSRYE VYTQGGVIFA TSRILVVDFL
121TDRIPSDLIT GILVYRAHRI IESCQEAFIL RLFRQKNKRG
161F IKAFTDNA VAFDTGFCHV ERVMRNLFVR KLYLWPRFHV
201AVNSFLEQHK PEVVEIHVSM TPTMLAIQTA ILDILNACLK
241EL KCHNPSL EVEDLSLENA IGKPFDKTIR HYLDPLWHQL
281GAKTKSLVQD LKILRTLLQY LSQYDCVTFL NLLESLRATE
321KAF GQNSGW LFLDSSTSMF INARARVYHL PDAKMSKKEK
361ISEKMEIKEG EETKKELVLE SNPKWEALTE VLKEIEAENK
401ESEA LGGPG QVLICASDDR TCSQLRDYIT LGAEAFLLRL
441YRKTFEKDSK AEEVWMKFRK EDSSKRIRKS HKRPKDPQNK
481ERAST KERT LKKKKRKLTL TQMVGKPEEL EEEGDVEEGY
521RREISSSPES CPEEIKHEEF DVNLSSDAAF GILKEPLTII
561HPLLGC SDP YALTRVLHEV EPRYVVLYDA ELTFVRQLEI
601YRASRPGKPL RVYFLIYGGS TEEQRYLTAL RKEKEAFEKL
641IREKASM VV PEEREGRDET NLDLVRGTAS ADVSTDTRKA
681GGQEQNGTQQ SIVVDMREFR SELPSLIHRR GIDIEPVTLE
721VGDYILTP E MCVERKSISD LIGSLNNGRL YSQCISMSRY
761YKRPVLLIEF DPSKPFSLTS RGALFQEISS NDISSKLTLL
801TLHFPRLRI LWCPSPHATA ELFEELKQSK PQPDAATALA
841ITADSETLPE SEKYNPGPQD FLLKMPGVNA KNCRSLMHHV
881KNIAELAALS QDELTSILG NAANAKQLYD FIHTSFAEVV
921SKGKGKK
结构预测来自 AlphaFold DB（UniProt: Q92889），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

ERCC4基因的碱基突变：           仅显示部分snp
rs31869       rs31870       rs254941       rs254942       rs744154       rs762521       rs957078       rs1055443       rs1651203       rs1651204       rs1799797       rs1799798       rs1799799       rs1799800       rs1799801       rs1799802       rs1800067      

基因表达

基因表达

ERCC4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
TATGACGCAGAGCTAACCT
58
AAGAAAGTAAACCCTCAGAGGT
59
TGCTGTTGCCTTTGATACTG
59
CTACATGGAACCTTGGCCA
60
ATGGCCAGAAATACATAGCTG
58
AGTTTACTGCTACATGGAACC
58
TGCTGTTGCCTTTGATACTG
59
TATAGCAGTCTTGGCCACAG
60
GGTGGTGTTATATTTGCGAC
57
CTCTATACACCAAGATGCCAG
58
GAAAGCAACCCAAAGTGGG
59
GTACTTGACCTGGACCACC
59
TATCTCACTGCTTTGCGGA
59
GGTGGCTCATATCTTATACGGT
60
GAAAGCAACCCAAAGTGGG
60
GTACTTGACCTGGACCACC
60
TATGACGCAGAGCTAACCT
58
AAGAAAGTAAACCCTCAGAGGT
59
AAATGCCATAACCCATCGC
59
AATGGCGGATTGTCTTGTC
58

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）
FOS
ERCC4
Activation
20976523

基因本体信息

ERCC4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

ERCC4基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000014
Q92889 (UniProtKB)
IBA
GO:0000109
Q92889 (UniProtKB)
IDA
GO:0000110
Q92889 (UniProtKB)
IDA
GO:0000712
Q92889 (UniProtKB)
IBA
GO:0000723
Q92889 (UniProtKB)
IMP
GO:0000723
Q92889 (UniProtKB)
IGI
GO:0000724
Q92889 (UniProtKB)
IMP
GO:0000781
Q92889 (UniProtKB)
IDA
GO:0000784
Q92889 (UniProtKB)
IDA
GO:0001094
Q92889 (UniProtKB)
IEA
GO:0003684
Q92889 (UniProtKB)
IMP
GO:0003697
Q92889 (UniProtKB)
IDA
GO:0004520
Q92889 (UniProtKB)
IDA
GO:0004520
Q92889 (UniProtKB)
IDA
GO:0004520
Q92889 (UniProtKB)
IMP
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005515
Q92889 (UniProtKB)
IPI
GO:0005634
Q92889 (UniProtKB)
IDA
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005654
Q92889 (UniProtKB)
TAS
GO:0005669
Q92889 (UniProtKB)
IEA
GO:0006281
Q92889 (UniProtKB)
IGI
GO:0006281
Q92889 (UniProtKB)
IMP
GO:0006283
Q92889 (UniProtKB)
TAS
GO:0006289
Q92889 (UniProtKB)
IDA
GO:0006289
Q92889 (UniProtKB)
IMP
GO:0006293
Q92889 (UniProtKB)
TAS
GO:0006295
Q92889 (UniProtKB)
IMP
GO:0006295
Q92889 (UniProtKB)
TAS
GO:0006296
Q92889 (UniProtKB)
IMP
GO:0006296
Q92889 (UniProtKB)
IMP
GO:0006296
Q92889 (UniProtKB)
TAS
GO:0008022
Q92889 (UniProtKB)
IPI
GO:0009411
Q92889 (UniProtKB)
IMP
GO:0009650
Q92889 (UniProtKB)
IEA
GO:0032205
Q92889 (UniProtKB)
IMP
GO:0033683
Q92889 (UniProtKB)
IDA
GO:0033683
Q92889 (UniProtKB)
TAS
GO:0034644
Q92889 (UniProtKB)
IGI
GO:0036297
Q92889 (UniProtKB)
TAS
GO:0047485
Q92889 (UniProtKB)
IPI
GO:0070522
Q92889 (UniProtKB)
IDA
GO:0070911
Q92889 (UniProtKB)
TAS
GO:1901255
Q92889 (UniProtKB)
IBA
GO:0004520
Q92889 (UniProtKB)
IDA
GO:0043566
Q92889 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 ERCC4基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
Reactome
加载中…
关联基因 作用方式 资源库来源/分值

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, group F 0.443800186 16 6 BeFree_CTD_human_MGD_ORPHANET_UNIPROT
XFE Progeroid Syndrome 0.360271442 2 1 BeFree_CLINVAR_CTD_human_UNIPROT
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 0.24 2 4 CLINVAR_UNIPROT
Fanconi Anemia 0.124353001 6 0 BeFree_LHGDN_ORPHANET
Testicular Neoplasms 0.12272435 2 0 CTD_human_LHGDN
Cockayne Syndrome, Type I 0.12 0 0 ORPHANET
Bladder Neoplasm 0.12 1 0 CTD_human
Micronuclei, Chromosome-Defective 0.12 2 0 CTD_human
Peripheral Neuropathy 0.12 1 0 CTD_human
Neoplasms, Germ Cell and Embryonal 0.12 1 0 CTD_human

基因相关文献

基因相关文献

Higher Levels of BRCA1 Gene Methylation in Sporadic Breast Cancer Patients with a Lower Incidence of Recurrence.
Agnes G, Damin APS, Watte G, Guimarães GR, Roehe AV, Saffi J Med Sci (Basel) 2026-05-13
Genomic landscape of ERCC alterations in breast and gynecological cancers: implications for targeted therapy and VUS reclassification.
Canbek S, Karaağaç M, Ermiş A, Türkan Ş, Topal CS, İlhan N, Yalçınkaya C, Ezberci F Mol Biol Rep IF: 3.2 2026-08-21
Inhibition of BLM helicase disrupts organelle function and oocyte maturation in goats.
An D, Xu J, Chen J, Li Z, Zhou B, Liu H, Chen X, Ruan Y Reproduction IF: 3.4 2026-02-05
Antibody Deficiency in Xeroderma Pigmentosum.
Rossmanith R, Geier CB, Gruber RW, Wolf HM J Clin Immunol IF: 4.1 2026-01-10
Genome-Scale CRISPR Screens Reveal DNA Repair Dependencies That Sensitize Hepatocellular Carcinoma to Oxaliplatin.
Ouyang H, Huang D, Wen D, Huang L, Wu Z, Lai Z, He M, Wu W, Shi M Cancers (Basel) 2026-04-24
Diagnostic value of genetic testing in chorea: a retrospective monocentric study.
Fodor TA, Milenkovic I, Zimprich A, Brücke C J Neurol IF: 5.4 2026-06-19
Determination of copy number variations and affected gene networks in breast cancer.
Larios-Serrato V, Valdez-Salazar HA, Torres J, Camorlinga-Ponce M, Piña-Sánchez P, Mayani H, Ruiz-Tachiquín ME Biomed Rep IF: 2.5 2026-07-00

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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