Gene
rfx5
- ID
- ZDB-GENE-070717-3
- Name
- regulatory factor X, 5
- Symbol
- rfx5 Nomenclature History
- Previous Names
-
- si:ch211-210h11.13
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in MHC class II deficiency and severe combined immunodeficiency. Orthologous to human RFX5 (regulatory factor X5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| MHC class II deficiency | Alliance | Bare lymphocyte syndrome, type II, complementation group C | 209920 |
| MHC class II deficiency | Alliance | Bare lymphocyte syndrome, type II, complementation group E | 209920 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | DNA-binding RFX-type winged-helix domain | RFX-like DNA-binding protein | Winged helix DNA-binding domain superfamily | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M2B678
|
590 |
Interactions and Pathways
No data available
Plasmids
No data available