ERCC2 Chromosome 19

ERCC excision repair 2, TFIIH core complex helicase subunit
259 variants 259 Health Risk

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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
RS758988777 Health Risk Conflicting classifications of pathogenicity —
RS760820378 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive, Cerebrooculofacioskeletal syndrome 2
RS761737358 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum
RS761821592 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS762985501 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D, Inborn genetic diseases
RS763639137 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS763701580 Health Risk Conflicting classifications of pathogenicity Corpus callosum, agenesis of, Corpus callosum
RS764868582 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leukodystrophy, Inborn genetic diseases
RS768954113 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769231981 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D, Inborn genetic diseases
RS769750286 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D, Inborn genetic diseases
RS771824813 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS774329591 Health Risk Conflicting classifications of pathogenicity —
RS774392894 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D
RS775486463 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive, Trichothiodystrophy 1
RS780965895 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886054497 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D, Inborn genetic diseases
RS886054498 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D, Xeroderma pigmentosum
RS899469885 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D, Xeroderma pigmentosum
RS1040480735 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS112910027 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1185007661 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1, photosensitive
RS1199957431 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS121913018 Health Risk Likely pathogenic Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum
RS121913021 Health Risk Likely pathogenic Trichothiodystrophy 1, photosensitive, Ovarian cancer
RS1254210696 Health Risk Likely pathogenic —
RS1296249274 Health Risk Likely pathogenic —
RS1327017125 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1, photosensitive
RS1371008626 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS142184249 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1555775708 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1555776677 Health Risk Likely pathogenic —
RS1599753508 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1971847513 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1971848694 Health Risk Likely pathogenic —
RS1971989621 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D
RS1972523679 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS199954405 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2123227881 Health Risk Likely pathogenic —
RS2123252188 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2123313191 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513997612 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513998244 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513999168 Health Risk Likely pathogenic Xeroderma pigmentosum, group D, Cerebrooculofacioskeletal syndrome 2
RS2513999250 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513999462 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513999476 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514000020 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514000372 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514000375 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
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