Gene
rfxank
- ID
- ZDB-GENE-050208-596
- Name
- regulatory factor X-associated ankyrin-containing protein
- Symbol
- rfxank Nomenclature History
- Previous Names
-
- si:ch211-125m10.3
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- 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 RFXANK (regulatory factor X associated ankyrin containing protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Liu et al., 2011
- 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 2 | 620815 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily |
|---|---|---|---|
|
UniProtKB:B3DI78
|
203 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rfxank-201
(1)
|
Ensembl | 683 nt | ||
| mRNA |
rfxank-202
(1)
|
Ensembl | 659 nt |
Interactions and Pathways
No data available
Plasmids
No data available