RFX4 (regulatory factor X4)

2014-11-01  

Identity

HGNC
LOCATION
12q23.3
LOCUSID
ALIAS
NYD-SP10
FUSION GENES

Other Information

Locus ID:

NCBI: 5992
MIM: 603958
HGNC: 9985
Ensembl: ENSG00000111783

Variants:

dbSNP: 5992
ClinVar: 5992
TCGA: ENSG00000111783
COSMIC: RFX4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111783ENST00000229387Q33E94
ENSG00000111783ENST00000357881Q33E94
ENSG00000111783ENST00000392842Q33E94
ENSG00000111783ENST00000536722B4DZB7
ENSG00000111783ENST00000539967R4GMS3
ENSG00000111783ENST00000546882F8W1T9
ENSG00000111783ENST00000549040F8VZC4
ENSG00000111783ENST00000551640F8VRD4
ENSG00000111783ENST00000552917F8VX50

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
210844262011Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.64
182186302008G-protein pathway suppressor 2 (GPS2) interacts with the regulatory factor X4 variant 3 (RFX4_v3) and functions as a transcriptional co-activator.17
193285582009Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.11
159402972005Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4.9
159402972005Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4.9

Citation

Dessen P

RFX4 (regulatory factor X4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72602/rfx4