RFXANK (regulatory factor X associated ankyrin containing protein)

2007-02-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
ANKRA1,BLS,F14150_1,RFX-B

Other Information

Locus ID:

NCBI: 8625
MIM: 603200
HGNC: 9987
Ensembl: ENSG00000064490

Variants:

dbSNP: 8625
ClinVar: 8625
TCGA: ENSG00000064490
COSMIC: RFXANK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000064490ENST00000303088O14593
ENSG00000064490ENST00000303088A0A024R7M1
ENSG00000064490ENST00000392324A0A024R7P0
ENSG00000064490ENST00000407360O14593
ENSG00000064490ENST00000407360A0A024R7M1
ENSG00000064490ENST00000421262F5H7D2
ENSG00000064490ENST00000456252O14593
ENSG00000064490ENST00000535017H0YGQ6
ENSG00000064490ENST00000536253H0YFU5
ENSG00000064490ENST00000540981F5GY33
ENSG00000064490ENST00000544923H0YFZ0
ENSG00000064490ENST00000593273K7ENE6

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Antigen processing and presentationKEGGko04612
Primary immunodeficiencyKEGGko05340
Antigen processing and presentationKEGGhsa04612
Primary immunodeficiencyKEGGhsa05340
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
219084312011Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.21
159648512005Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases.11
187231352008Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.7
126189062003Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.6
204146762010The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.5
161666412005New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study.4
266343652016Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent.2
118366252002RFX-B, a MHC class II transcription factor, suppressed in human colorectal adenocarcinomas.0
293624222018A caspase-2-RFXANK interaction and its implication for MHC class II expression.0
306447042018MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report.0

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