full name
ERCC excision repair 6, chromatin remodeling factor

synonyms
ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1, ERCC6, ENSG00000225830, ENSG00000258838

HGNC
HGNC:3438

Entrez Gene
Gene:2074

ENSEMBL
ENSG00000225830
ENSG00000258838

location
chr: 10
start: 50662526
stop: 50747169
strand: -

OMIM
OMIM:609413: ERCC6 (Autosomal recessive inheritance)
OMIM:214150: Cerebrooculofacioskeletal syndrome 1
OMIM:133540: Cockayne syndrome, type B
OMIM:278800: De Sanctis-Cacchione syndrome
OMIM:616946: Premature ovarian failure 11
OMIM:600630: UV-sensitive syndrome 1
OMIM:211980: {Lung cancer, susceptibility to}
OMIM:613761: {Macular degeneration, age-related, susceptibility to, 5}

transcripts
NM_000124.3

pathways
B-WICH complex positively regulates rRNA expression [NCBI:1339126] [REACTOME:R-HSA-5250924] [PUBMED:23555303] [PUBMED:16514417] [PUBMED:21559432] [PUBMED:16603771] [PUBMED:23667505] [PUBMED:16574391]
DNA Repair [NCBI:1270350] [REACTOME:R-HSA-73894] [PUBMED:10583946] [PUBMED:23175119]
Dual incision in TC-NER [NCBI:1309119] [REACTOME:R-HSA-6782135] [PUBMED:19279666] [PUBMED:8078911] [PUBMED:11904382] [PUBMED:19023283] [PUBMED:24402227] [PUBMED:23906714] [PUBMED:16246722]
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression [NCBI:1383084] [REACTOME:R-HSA-427389] [PUBMED:20026667] [PUBMED:23063748] [PUBMED:17707230] [PUBMED:18948749] [PUBMED:23153826] [PUBMED:23150253] [PUBMED:18631128]
Epigenetic regulation of gene expression [NCBI:1269734] [REACTOME:R-HSA-212165] [PUBMED:12610534]
Formation of TC-NER Pre-Incision Complex [NCBI:1309118] [REACTOME:R-HSA-6781823] [PUBMED:17290000] [PUBMED:16916636] [PUBMED:22466611] [PUBMED:10944529] [PUBMED:22902626] [PUBMED:22466610] [PUBMED:8876179] [PUBMED:8078911] [PUBMED:12660172] [PUBMED:25154395] [PUBMED:12208738] [PUBMED:25435140] [PUBMED:16751180]
Gap-filling DNA repair synthesis and ligation in TC-NER [NCBI:1309120] [REACTOME:R-HSA-6782210] [PUBMED:20227374] [PUBMED:19279666] [PUBMED:17643379]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Nucleotide Excision Repair [NCBI:1309111] [REACTOME:R-HSA-5696398] [PUBMED:11900249] [PUBMED:23906714] [PUBMED:14599765] [PUBMED:24954209] [PUBMED:10583946] [PUBMED:19023283]
Nucleotide excision repair [NCBI:83044] [KEGG:hsa03420] [PUBMED:18018633] [PUBMED:11436316] [PUBMED:17884153] [PUBMED:16922398] [PUBMED:11436323] [PUBMED:11436314] [PUBMED:17276014]
Positive epigenetic regulation of rRNA expression [NCBI:1339125] [REACTOME:R-HSA-5250913] [PUBMED:23153826] [PUBMED:16574391] [PUBMED:23063748] [PUBMED:18616426] [PUBMED:23150253]
RNA Polymerase I Promoter Clearance [NCBI:1269658] [REACTOME:R-HSA-73854]
RNA Polymerase I Transcription [NCBI:1269657] [REACTOME:R-HSA-73864]
RNA Polymerase I Transcription Initiation [NCBI:1269660] [REACTOME:R-HSA-73762]
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription [NCBI:1269656] [REACTOME:R-HSA-504046]
Transcription-Coupled Nucleotide Excision Repair (TC-NER) [NCBI:1309117] [REACTOME:R-HSA-6781827] [PUBMED:19023283] [PUBMED:23906714] [PUBMED:3466163] [PUBMED:24954209] [PUBMED:11823795]