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 contribute to RNA polymerase II CTD heptapeptide repeat kinase activity. Predicted to be involved in several processes, including nucleotide-excision repair; positive regulation of nucleobase-containing compound metabolic process; and transcription by RNA polymerase II. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in several diseases, including acoustic neuroma; acquired immunodeficiency syndrome; hematologic cancer (multiple); reproductive organ cancer (multiple); and xeroderma pigmentosum (multiple). Is expressed in several structures, including digestive system; gonad; heart; male organism; and precaudal vertebra. 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 |
| 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 family |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1Q5E7
|
760 |
Interactions and Pathways
No data available
Plasmids
No data available