RFX4 (regulatory factor X4)

2014-11-01  

Identity

HGNC
RFX4
LOCATION
12q23.3
LOCUSID
5992
ALIAS
NYD-SP10
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383860712024RFX4 is an intrinsic factor for neuronal differentiation through induction of proneural genes POU3F2 and NEUROD1.0
383860712024RFX4 is an intrinsic factor for neuronal differentiation through induction of proneural genes POU3F2 and NEUROD1.0
320754842021High expression of RFX4 is associated with tumor progression and poor prognosis in patients with glioblastoma.8
320754842021High expression of RFX4 is associated with tumor progression and poor prognosis in patients with glioblastoma.8
210844262011Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.82
210844262011Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.82
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.14
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.14
182186302008G-protein pathway suppressor 2 (GPS2) interacts with the regulatory factor X4 variant 3 (RFX4_v3) and functions as a transcriptional co-activator.18
182186302008G-protein pathway suppressor 2 (GPS2) interacts with the regulatory factor X4 variant 3 (RFX4_v3) and functions as a transcriptional co-activator.18
159402972005Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4.10
159402972005Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4.10
159402972005Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4.10
159402972005Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4.10

Citation

Dessen P

RFX4 (regulatory factor X4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72602/rfx4-(regulatory-factor-x4)