ERCC5 Chromosome 13
ERCC excision repair 5, endonuclease
Upload your DNA to see your personal genotypes for variants in ERCC5.
What This Gene Does
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
Gene Info
Gene Group
"Xeroderma pigmentosum complementation groups|ERCC excision repair associated|Rad2/XPG endonuclease family"
Locus Type
gene with protein product
Location
13q33.1
Ensembl
ENSG00000134899
Associated Conditions (12)
Xeroderma pigmentosum
group G
Hereditary cancer-predisposing syndrome
Inborn genetic diseases
Cerebrooculofacioskeletal syndrome 3
Ovarian cancer
ERCC5-related disorder
8 conditions
Hepatoblastoma
See cases
Xeroderma pigmentosum group G/Cockayne syndrome
Xeroderma pigmentosum-Cockayne syndrome complex
Key Variants
RS141369732
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome
Health Risk
RS141763734
Conflicting classifications of pathogenicity
Health Risk
RS143667470
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome
Health Risk
RS188710607
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group G, Ovarian cancer
Health Risk
RS199562917
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome
Health Risk
RS199648606
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS199651040
Conflicting classifications of pathogenicity
Ovarian cancer, Ovarian cancer
Health Risk
RS200615101
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome
Health Risk
RS201206202
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group G, Xeroderma pigmentosum
Health Risk
RS201274165
Conflicting classifications of pathogenicity
Health Risk
RS201911663
Conflicting classifications of pathogenicity
Cerebrooculofacioskeletal syndrome 3, Hereditary cancer-predisposing syndrome, Xeroderma pigmentosum
Health Risk
RS2227871
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (77)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434572 | Health Risk | Pathogenic | Xeroderma pigmentosum group G/Cockayne syndrome, Xeroderma pigmentosum group G/Cockayne syndrome |
| RS121434573 | Health Risk | Pathogenic | Xeroderma pigmentosum group G/Cockayne syndrome, Xeroderma pigmentosum group G/Cockayne syndrome |
| RS121434574 | Health Risk | Pathogenic | Xeroderma pigmentosum group G/Cockayne syndrome, Xeroderma pigmentosum group G/Cockayne syndrome |
| RS121434575 | Health Risk | Pathogenic | Xeroderma pigmentosum, group G, Xeroderma pigmentosum |
| RS121434577 | Health Risk | Pathogenic | Xeroderma pigmentosum, group G, Xeroderma pigmentosum |
| RS1242579404 | Health Risk | Pathogenic | Xeroderma pigmentosum-Cockayne syndrome complex, Xeroderma pigmentosum-Cockayne syndrome complex |
| RS1468211891 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1595382501 | Health Risk | Pathogenic | Xeroderma pigmentosum, group G, Xeroderma pigmentosum |
| RS1882641004 | Health Risk | Pathogenic | Xeroderma pigmentosum, Xeroderma pigmentosum |
| RS1882701423 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 3, Cerebrooculofacioskeletal syndrome 3 |
| RS1882806435 | Health Risk | Pathogenic | Xeroderma pigmentosum, Xeroderma pigmentosum group G/Cockayne syndrome, Xeroderma pigmentosum |
| RS1882855292 | Health Risk | Pathogenic | — |
| RS2140538834 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 3, Cerebrooculofacioskeletal syndrome 3 |
| RS2501529754 | Health Risk | Pathogenic | ERCC5-related disorder, ERCC5-related disorder |
| RS267607280 | Health Risk | Pathogenic | Xeroderma pigmentosum, group G, Xeroderma pigmentosum |
| RS267607281 | Health Risk | Pathogenic | Xeroderma pigmentosum, group G, Xeroderma pigmentosum |
| RS752661599 | Health Risk | Pathogenic | Xeroderma pigmentosum, group G, Cerebrooculofacioskeletal syndrome 3 |
| RS755595128 | Health Risk | Pathogenic | — |
| RS760232640 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 3, Cerebrooculofacioskeletal syndrome 3 |
| RS779078202 | Health Risk | Pathogenic | Xeroderma pigmentosum, Xeroderma pigmentosum |
| RS786200920 | Health Risk | Pathogenic | Xeroderma pigmentosum, group G, Xeroderma pigmentosum |
| RS1283214655 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, Cerebrooculofacioskeletal syndrome 3, group G |
| RS1882232971 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, group G, Xeroderma pigmentosum |
| RS756420203 | Health Risk | Pathogenic/Likely pathogenic | Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum, group G |
| RS774078839 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, Xeroderma pigmentosum |
| RS786200919 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, group G, Cerebrooculofacioskeletal syndrome 3 |
| RS899478069 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, Xeroderma pigmentosum |