RFX6 (regulatory factor X6)

2013-01-01  

Identity

HGNC
RFX6
LOCATION
6q22.1
LOCUSID
222546
ALIAS
MTCHRS,MTFS,RFXDC1,dJ955L16.1

Other Information

Locus ID:

NCBI: 222546
MIM: 612659
HGNC: 21478
Ensembl: ENSG00000185002

Variants:

dbSNP: 222546
ClinVar: 222546
TCGA: ENSG00000185002
COSMIC: RFX6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185002ENST00000332958Q8HWS3

Expression (GTEx)

0
1
2
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

Pathways

PathwaySourceExternal ID
Maturity onset diabetes of the youngKEGGko04950
Maturity onset diabetes of the youngKEGGhsa04950
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in beta cellsREACTOMER-HSA-210745

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
206760982010Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.124
201480322010Rfx6 directs islet formation and insulin production in mice and humans.113
243902822014A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding.63
186735642008Identification and characterization of novel human tissue-specific RFX transcription factors.52
254971002014RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells.22
226622422012Replication and fine mapping for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in the Chinese population.16
219651722011Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.13
212152662011Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes.12
290261012017Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.10
262644372015Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.8

Citation

Dessen P

RFX6 (regulatory factor X6)

Atlas Genet Cytogenet Oncol Haematol. 2013-01-01

Online version: http://atlasgeneticsoncology.org/gene/53133/rfx6