Gene
ercc4
- ID
- ZDB-GENE-030131-5533
- Name
- excision repair cross-complementation group 4
- Symbol
- ercc4 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have damaged DNA binding activity; single-stranded DNA binding activity; and single-stranded DNA endodeoxyribonuclease activity. Predicted to be involved in DNA metabolic process. Predicted to localize to nucleotide-excision repair factor 1 complex. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group Q; XFE progeroid syndrome; pancreatic cancer; xeroderma pigmentosum; and xeroderma pigmentosum group F. Is expressed in liver. Orthologous to human ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Ramanagoudr-Bhojappa et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Fanconi anemia complementation group Q | Alliance | Fanconi anemia, complementation group Q | 615272 |
| xeroderma pigmentosum group F | Alliance | Xeroderma pigmentosum, group F | 278760 |
| xeroderma pigmentosum group F | Alliance | Xeroderma pigmentosum, type F/Cockayne syndrome | 278760 |
| XFE progeroid syndrome | Alliance | XFE progeroid syndrome | 610965 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | DNA repair endonuclease XPF, nuclease domain | DNA repair protein XPF | ERCC4 domain | Restriction endonuclease type II-like | RuvA domain 2-like |
|---|---|---|---|---|---|---|
|
UniProtKB:Q7SYE8
|
886 |
Interactions and Pathways
No data available
Plasmids
No data available