Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8625
MIM: 603200
HGNC: 9987
Ensembl: ENSG00000064490
Variants:
dbSNP: 8625
ClinVar: 8625
TCGA: ENSG00000064490
COSMIC: RFXANK
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37584719 | 2023 | Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population. | 1 |
| 37584719 | 2023 | Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population. | 1 |
| 31864703 | 2020 | Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK. | 1 |
| 31864703 | 2020 | Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK. | 1 |
| 29362422 | 2018 | A caspase-2-RFXANK interaction and its implication for MHC class II expression. | 0 |
| 30644704 | 2018 | MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report. | 1 |
| 29362422 | 2018 | A caspase-2-RFXANK interaction and its implication for MHC class II expression. | 0 |
| 30644704 | 2018 | MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report. | 1 |
| 26634365 | 2016 | Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent. | 7 |
| 26634365 | 2016 | Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent. | 7 |
| 21908431 | 2011 | Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. | 36 |
| 21908431 | 2011 | Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. | 36 |
| 20414676 | 2010 | The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. | 8 |
| 20414676 | 2010 | The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. | 8 |
| 18723135 | 2008 | Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5. | 12 |
Citation
Dessen P
RFXANK (regulatory factor X associated ankyrin containing protein)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46148/rfxank
