ERCC2 Chromosome 19
ERCC excision repair 2, TFIIH core complex helicase subunit
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What This Gene Does
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]
Gene Info
Gene Group
"DEAH-box helicases|Xeroderma pigmentosum complementation groups|ERCC excision repair associated|General transcription factor IIH complex subunits"
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000104884
Associated Conditions (30)
Xeroderma pigmentosum
group D
Inborn genetic diseases
ERCC2-related disorder
Trichothiodystrophy 1
photosensitive
Cerebrooculofacioskeletal syndrome 2
Hepatoblastoma
Ovarian cancer
Melanoma
Cervical cancer
Colorectal cancer
Thyroid cancer
nonmedullary
1
Hereditary cancer-predisposing syndrome
Corpus callosum
agenesis of
Leukodystrophy
Trichothiodystrophy
+10 more conditions
Key Variants
RS116544270
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group D, Inborn genetic diseases
Health Risk
RS121913016
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group D, Trichothiodystrophy 1
Health Risk
RS121913023
Conflicting classifications of pathogenicity
Cerebrooculofacioskeletal syndrome 2, Inborn genetic diseases, Cerebrooculofacioskeletal syndrome 2
Health Risk
RS138038607
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group D, Inborn genetic diseases
Health Risk
RS1410724947
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, Xeroderma pigmentosum
Health Risk
RS1411740455
Conflicting classifications of pathogenicity
Trichothiodystrophy 1, photosensitive, Trichothiodystrophy 1
Health Risk
RS141457460
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group D, Trichothiodystrophy 1
Health Risk
RS142936491
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group D, Hepatoblastoma
Health Risk
RS143710107
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, Inborn genetic diseases, Cerebrooculofacioskeletal syndrome 2
Health Risk
RS1451258340
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145835916
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group D, Inborn genetic diseases
Health Risk
RS146022050
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group D, Inborn genetic diseases
Health Risk
All Variants (259)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1266915084 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2 |
| RS1287663770 | Health Risk | Pathogenic | — |
| RS1312336997 | Health Risk | Pathogenic | — |
| RS1360631927 | Health Risk | Pathogenic | Xeroderma pigmentosum, group D, Cerebrooculofacioskeletal syndrome 2 |
| RS1420151470 | Health Risk | Pathogenic | — |
| RS1450177088 | Health Risk | Pathogenic | — |
| RS146538967 | Health Risk | Pathogenic | — |
| RS1568546120 | Health Risk | Pathogenic | Xeroderma pigmentosum, group D, Xeroderma pigmentosum |
| RS1568546252 | Health Risk | Pathogenic | Xeroderma pigmentosum, group D, Xeroderma pigmentosum |
| RS1971844830 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2 |
| RS1971848454 | Health Risk | Pathogenic | — |
| RS1971889059 | Health Risk | Pathogenic | — |
| RS1972046041 | Health Risk | Pathogenic | — |
| RS1972310214 | Health Risk | Pathogenic | — |
| RS199643821 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D |
| RS2123224577 | Health Risk | Pathogenic | — |
| RS2123229159 | Health Risk | Pathogenic | Xeroderma pigmentosum, group D, Xeroderma pigmentosum |
| RS2123285884 | Health Risk | Pathogenic | — |
| RS2123288444 | Health Risk | Pathogenic | Xeroderma pigmentosum, group D, Xeroderma pigmentosum |
| RS2123294697 | Health Risk | Pathogenic | — |
| RS2123296002 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2513994806 | Health Risk | Pathogenic | Trichothiodystrophy 1, photosensitive, Trichothiodystrophy 1 |
| RS2513999039 | Health Risk | Pathogenic | — |
| RS2513999544 | Health Risk | Pathogenic | — |
| RS2514002847 | Health Risk | Pathogenic | — |
| RS2514006097 | Health Risk | Pathogenic | — |
| RS2514012560 | Health Risk | Pathogenic | — |
| RS2514012590 | Health Risk | Pathogenic | — |
| RS2514012636 | Health Risk | Pathogenic | — |
| RS2514014150 | Health Risk | Pathogenic | — |
| RS2514023173 | Health Risk | Pathogenic | — |
| RS2514023304 | Health Risk | Pathogenic | — |
| RS2514028320 | Health Risk | Pathogenic | — |
| RS2514028404 | Health Risk | Pathogenic | — |
| RS2514028487 | Health Risk | Pathogenic | — |
| RS2514028585 | Health Risk | Pathogenic | — |
| RS2514029570 | Health Risk | Pathogenic | — |
| RS2514029982 | Health Risk | Pathogenic | — |
| RS2514030262 | Health Risk | Pathogenic | — |
| RS2514030959 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2514031946 | Health Risk | Pathogenic | — |
| RS2514033848 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2 |
| RS2514034313 | Health Risk | Pathogenic | — |
| RS2514034822 | Health Risk | Pathogenic | — |
| RS2514044862 | Health Risk | Pathogenic | — |
| RS2514045500 | Health Risk | Pathogenic | — |
| RS2514048536 | Health Risk | Pathogenic | — |
| RS756630156 | Health Risk | Pathogenic | Trichothiodystrophy 1, photosensitive, Cerebrooculofacioskeletal syndrome 2 |
| RS758439420 | Health Risk | Pathogenic | Xeroderma pigmentosum, group D, Trichothiodystrophy 1 |
| RS767747355 | Health Risk | Pathogenic | Xeroderma pigmentosum, group D, Cerebrooculofacioskeletal syndrome 2 |