Gene
rfxap
- ID
- ZDB-GENE-091204-321
- Name
- regulatory factor X-associated protein
- Symbol
- rfxap Nomenclature History
- Previous Names
-
- si:ch211-170h2.4
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have DNA binding activity. Predicted to be involved in positive regulation of transcription, DNA-templated. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in MHC class II deficiency. Orthologous to human RFXAP (regulatory factor X associated protein).
- 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 D | 209920 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Regulatory factor X-associated protein, RFXANK-binding domain | RFXAP, C-terminal domain superfamily |
|---|---|---|---|
|
UniProtKB:E9QDE2
|
193 |
Interactions and Pathways
No data available
Plasmids
No data available