Gene: ERCC2

Alternate names for this Gene: COFS2|EM9|TFIIH|TTD|TTD1|XPD

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: ERCC excision repair 2, TFIIH core complex helicase subunit

Type of Gene: protein-coding

rs121913023 in ERCC2 gene and Cerebrooculofacioskeletal Syndrome 2 PMID 11443545 2001 Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

rs121913016 in ERCC2 gene and Photosensitive Trichothiodystrophy PMID 9238033 1997 Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

PMID 9758621 1998 Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

PMID 11242112 2001 A temperature-sensitive disorder in basal transcription and DNA repair in humans.

PMID 7920640 1994 Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.

PMID 9195225 1997 DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

PMID 8571952 1996 Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

rs238410 in ERCC2 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs776705174 in ERCC2 gene and Xeroderma Pigmentosum PMID 7920640 1994 Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.

rs121913016 in ERCC2 gene and Xeroderma Pigmentosum, Complementation Group D PMID 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PMID 7585650 1995 Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

PMID 15494306 2004 Selective regulation of vitamin D receptor-responsive genes by TFIIH.

PMID 7825573 1995 Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

PMID 7849702 1994 In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution.

PMID 9101292 1997 Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.

PMID 11709541 2001 Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

PMID 7849702 1994 Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.

PMID 11710928 2001 Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.

PMID 18637129 2009 Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).

PMID 12820975 2003 Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.

PMID 24252196 2013 The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).

PMID 27004399 2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

PMID 9238033 1997 Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

PMID 23800062 2013 Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.

PMID 22826098 2012 A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.

PMID 27504877 2016 Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

PMID 20633800 2010 Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.

PMID 26884178 2016 Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.