Gene
ercc2
- ID
- ZDB-GENE-040426-997
- Name
- excision repair cross-complementation group 2
- Symbol
- ercc2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable DNA helicase activity and damaged DNA binding activity. Predicted to be involved in positive regulation of mitotic recombination and transcription by RNA polymerase II. Predicted to act upstream of or within nucleotide-excision repair. Predicted to be active in nucleus. Is expressed in several structures, including digestive system; female organism; gonad; male organism; and precaudal vertebra. Human ortholog(s) of this gene implicated in several diseases, including acoustic neuroma; acquired immunodeficiency syndrome; carcinoma (multiple); hematologic cancer (multiple); and xeroderma pigmentosum (multiple). Orthologous to human ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 7 figures from Ma et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cerebrooculofacioskeletal syndrome 2 | Alliance | ?Cerebrooculofacioskeletal syndrome 2 | 610756 |
| photosensitive trichothiodystrophy 1 | Alliance | Trichothiodystrophy 1, photosensitive | 601675 |
| xeroderma pigmentosum group D | Alliance | Xeroderma pigmentosum, group D | 278730 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR002464 | DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site |
| Domain | IPR006554 | Helicase-like, DEXD box c2 type |
| Domain | IPR006555 | ATP-dependent helicase, C-terminal |
| Domain | IPR010614 | RAD3-like helicase, DEAD |
| Domain | IPR010643 | Helical and beta-bridge domain |
| Domain | IPR014013 | Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type |
| Family | IPR001945 | RAD3/XPD |
| Family | IPR013020 | ATP-dependent helicase Rad3/Chl1-like |
| Family | IPR045028 | Helicase superfamily 1/2, DinG/Rad3-like |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Length | ATP-dependent helicase, C-terminal | ATP-dependent helicase Rad3/Chl1-like | DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site | Helical and beta-bridge domain | Helicase-like, DEXD box c2 type | Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type | Helicase superfamily 1/2, DinG/Rad3-like | P-loop containing nucleoside triphosphate hydrolase | RAD3-like helicase, DEAD | RAD3/XPD |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1Q5E7
|
760 |
Interactions and Pathways
No data available
Plasmids
No data available