RFX6 (regulatory factor X6)

2013-01-01  

Identity

HGNC
LOCATION
6q22.1
LOCUSID
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

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

References

Pubmed IDYearTitleCitations
380645702024RFX6 Maintains Gene Expression and Function of Adult Human Islet α-Cells.1
385871742024RFX6 regulates human intestinal patterning and function upstream of PDX1.0
380645702024RFX6 Maintains Gene Expression and Function of Adult Human Islet α-Cells.1
385871742024RFX6 regulates human intestinal patterning and function upstream of PDX1.0
380935282023RFX6 facilitates aerobic glycolysis-mediated growth and metastasis of hepatocellular carcinoma through targeting PGAM1.5
380935282023RFX6 facilitates aerobic glycolysis-mediated growth and metastasis of hepatocellular carcinoma through targeting PGAM1.5
337213952021A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.2
337213952021A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.2
330331182020Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.6
330331182020Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.6
290261012017Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.55
290261012017Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.55
262644372015Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.16
265370682015Association of THADA, FOXP4, GPRC6A/RFX6 genes and 8q24 risk alleles with prostate cancer in Northern Chinese men.5
262644372015Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.16

Citation

Dessen P

RFX6 (regulatory factor X6)

Atlas Genet Cytogenet Oncol Haematol. 2013-01-01

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