ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)

2001-09-01   Anne Stary  , Alain Sarasin  

Laboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France

Identity

HGNC
ERCC6
LOCATION
10q11.23
IMAGE
Atlas Image
LEGEND
ERCC6 (10q11-10q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
2074
ALIAS
ARMD5,CKN2,COFS,COFS1,CSB,CSB-PGBD3,POF11,RAD26,UVSS1
FUSION GENES
Show Gene Fusions

DNA/RNA

Transcription

4714 b

Proteins

Description

1493 amino acids ; 168415 Da

Function

The Cockayne syndrome B (CSB) gene encodes for a DNA-dependent ATPase which is involved in the preferential repair of active genes. The CSB gene product is recruited to RNA polymerase II complexes and enhances elongation on an undamaged template by a factor of about three.

Mutations

Germinal

13 base substitutions ; 4 small deletions ; 3 small insertions ; 2 gross rearrangements

Implicated in

Entity name
Cockayne syndrome, CS group B
Disease
The Cockayne syndrome B is characterized by sensitivity to sunlight, dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy and deafness.

Bibliography

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 2074
MIM: 609413
HGNC: 3438
Ensembl: ENSG00000225830

Variants:

dbSNP: 2074
ClinVar: 2074
TCGA: ENSG00000225830
COSMIC: ERCC6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000225830ENST00000355832Q03468
ENSG00000225830ENST00000447839P0DP91
ENSG00000225830ENST00000462247D6R9X7
ENSG00000225830ENST00000515869P0DP91
ENSG00000225830ENST00000624341A0A096LNQ7

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Nucleotide excision repairKEGGko03420
Nucleotide excision repairKEGGhsa03420
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase I TranscriptionREACTOMER-HSA-73864
RNA Polymerase I Promoter ClearanceREACTOMER-HSA-73854
RNA Polymerase I Transcription InitiationREACTOMER-HSA-73762
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
DNA RepairREACTOMER-HSA-73894
Nucleotide Excision RepairREACTOMER-HSA-5696398
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
Formation of TC-NER Pre-Incision ComplexREACTOMER-HSA-6781823
Dual incision in TC-NERREACTOMER-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210
Positive epigenetic regulation of rRNA expressionREACTOMER-HSA-5250913
B-WICH complex positively regulates rRNA expressionREACTOMER-HSA-5250924
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expressionREACTOMER-HSA-427389

References

Pubmed IDYearTitleCitations
381520552024CircMAP3K4 Suppresses H2O2-Induced Human Lens Epithelial Cell Injury by miR-630/ERCC6 Axis in Age-Related Cataract.0
384165702024CSB and SMARCAL1 compete for RPA32 at stalled forks and differentially control the fate of stalled forks in BRCA2-deficient cells.0
381520552024CircMAP3K4 Suppresses H2O2-Induced Human Lens Epithelial Cell Injury by miR-630/ERCC6 Axis in Age-Related Cataract.0
384165702024CSB and SMARCAL1 compete for RPA32 at stalled forks and differentially control the fate of stalled forks in BRCA2-deficient cells.0
368024542023ERCC6 plays a promoting role in the progression of non-small cell lung cancer.0
373260172023The CSB chromatin remodeler regulates PARP1- and PARP2-mediated single-strand break repair at actively transcribed DNA regions.3
368024542023ERCC6 plays a promoting role in the progression of non-small cell lung cancer.0
373260172023The CSB chromatin remodeler regulates PARP1- and PARP2-mediated single-strand break repair at actively transcribed DNA regions.3
354639692022Genetic Association of ERCC6 rs2228526 Polymorphism with the Risk of Cancer: Evidence from a Meta-Analysis.0
359753932022A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency.1
354639692022Genetic Association of ERCC6 rs2228526 Polymorphism with the Risk of Cancer: Evidence from a Meta-Analysis.0
359753932022A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency.1
335900972021Current and emerging roles of Cockayne syndrome group B (CSB) protein.21
336320322021Profiling and Integrated Analysis of the ERCC6-regulated circRNA-miRNA-mRNA Network in Lens Epithelial Cells.1
336377602021A CSB-PAF1C axis restores processive transcription elongation after DNA damage repair.23

Citation

Anne Stary ; Alain Sarasin

ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)

Atlas Genet Cytogenet Oncol Haematol. 2001-09-01

Online version: http://atlasgeneticsoncology.org/gene/302/css/lib/favicon/favicon-16x16.png