RFXANK: Regulatory Factor X-Associated Ankyrin-Containing Protein
Key transcription factor subunit in MHC class II expression and immune response
Gene Information Card
| Symbol | RFXANK |
|---|---|
| Full Name | Regulatory Factor X Associated Ankyrin Containing Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 8625 ncbi.nlm.nih.gov/gene/8625 |
| Ensembl ID | ENSG00000100064 |
| UniProt ID | O14593 |
| OMIM ID | 603200 |
| HGNC ID | 9987 |
| Aliases | ANKRA1, F14150_1, RFX-B |
Description
RFXANK encodes a subunit of the regulatory factor X (RFX) complex, a transcription factor essential for the expression of major histocompatibility complex class II (MHC-II) genes. The protein contains ankyrin repeats that mediate protein-protein interactions. Mutations in RFXANK cause MHC class II deficiency (bare lymphocyte syndrome type B), an autosomal recessive primary immunodeficiency characterized by lack of MHC-II expression and severe susceptibility to infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| MHC class II deficiency (bare lymphocyte syndrome type B) | Loss-of-function mutations in RFXANK prevent formation of the RFX complex, abolishing MHC-II transcription and leading to defective antigen presentation. | OMIM #209920; ClinVar; PMID: 10391214 |
| Severe combined immunodeficiency (SCID) | RFXANK mutations impair T-cell development and function due to lack of MHC-II expression on antigen-presenting cells. | OMIM #209920; PMID: 10391214 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.5 | Medium |
| Lung | 6.2 | Low |
| Small intestine | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocytes (GM12878) | 15.2 | High expression |
| Monocytes (THP-1) | 12.7 | Medium expression |
| T-cells (Jurkat) | 11.4 | Medium expression |
| HeLa | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.752C>T (p.Arg251*) | Nonsense | Rare in general population | Loss of function; truncates protein, abolishes RFX complex formation |
| c.606delG (p.Arg202Glyfs*12) | Frameshift deletion | Found in MHC class II deficiency patients | Loss of function; premature stop codon |
| c.325G>A (p.Gly109Arg) | Missense | Rare | Loss of function; disrupts ankyrin repeat domain |
Mutation functional classification
Loss of Function (LOF)
Most RFXANK mutations are loss-of-function, leading to MHC class II deficiency (bare lymphocyte syndrome type B).
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ['MHC class II antigen presentation (Reactome: R-HSA-2132295)']
• ['RFX complex assembly and transcription of MHC class II genes (Reactome: R-HSA-8868773)']
Protein Summary
RFXANK is a 260-amino-acid protein containing ankyrin repeats that mediate interaction with RFX5 and RFXAP to form the RFX complex. This complex binds to the X-box promoter element of MHC class II genes, enabling their transcription. Without functional RFXANK, MHC-II expression is absent, leading to severe immunodeficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RFXANK Knockout HEK293 Cell Line | EDJ-KQ6311 | Human | 8625 | Details Get a Quote |
| RFXANK Knockout A-549 Cell Line | EDJ-KQ30229 | Human | 8625 | Details Get a Quote |
| RFXANK Knockout HCT 116 Cell Line | EDJ-KQ30230 | Human | 8625 | Details Get a Quote |
| RFXANK Knockout HeLa Cell Line | EDJ-KQ30231 | Human | 8625 | Details Get a Quote |
