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RFX6
Identifiers
Aliases	RFX6, MTCHRS, MTFS, RFXDC1, dJ955L16.1, regulatory factor X6
External IDs	OMIM: 612659; MGI: 2445208; HomoloGene: 18318; GeneCards: RFX6; OMA:RFX6 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	116,932,161 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	51,606,528 bp
RNA expression pattern
	Top expressed in
	islet of Langerhans; ; testicle; ; gonad; ; duodenum; ; rectum; ; body of pancreas; ; jejunal mucosa; ; pylorus; ; body of stomach; ; mucosa of sigmoid colon;
	Top expressed in
	islet of Langerhans; ; embryo; ; embryo; ; mesenchyme; ; ear; ; endoderm; ; inner ear; ; ectoderm; ; intestine; ; otic vesicle;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; protein binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor activity;
Cellular component	nucleus; nucleolus;
Biological process	cell differentiation; regulation of transcription, DNA-templated; pancreatic epsilon cell differentiation; glucose homeostasis; regulation of insulin secretion; pancreatic A cell differentiation; transcription, DNA-templated; positive regulation of transcription, DNA-templated; multicellular organism development; positive regulation of insulin secretion involved in cellular response to glucose stimulus; type B pancreatic cell differentiation; pancreatic D cell differentiation; endocrine pancreas development; positive regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	222546
	320995
	ENSG00000185002
	ENSMUSG00000019900
	Q8HWS3
	Q8C7R7
	NM_173560
	NM_001159389; NM_177306
	NP_775831
	NP_001152861; NP_796280
	Wikidata
View/Edit Human	View/Edit Mouse

Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a protein that in humans is encoded by the RFX6 gene.^[5]

Function

The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes.

Clinical significance

Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.^[5]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000185002 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019900 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Regulatory factor X, 6". Retrieved 2012-02-10.

Aftab S, Semenec L, Chu JS, Chen N (2008). "Identification and characterization of novel human tissue-specific RFX transcription factors". BMC Evolutionary Biology. 8 (1): 226. Bibcode:2008BMCEE...8..226A. doi:10.1186/1471-2148-8-226. PMC 2533330. PMID 18673564.
Soyer J, Flasse L, Raffelsberger W, Beucher A, Orvain C, Peers B, Ravassard P, Vermot J, Voz ML, Mellitzer G, Gradwohl G (January 2010). "Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development". Development. 137 (2): 203–12. doi:10.1242/dev.041673. PMC 2799156. PMID 20040487.
Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y, Patch AM, Grabs R, Wang J, Lynn FC, Miyatsuka T, Mitchell J, Seerke R, Désir J, Vanden Eijnden S, Abramowicz M, Kacet N, Weill J, Renard ME, Gentile M, Hansen I, Dewar K, Hattersley AT, Wang R, Wilson ME, Johnson JD, Polychronakos C, German MS (February 2010). "Rfx6 directs islet formation and insulin production in mice and humans". Nature. 463 (7282): 775–80. Bibcode:2010Natur.463..775S. doi:10.1038/nature08748. PMC 2896718. PMID 20148032.
Takata R, Akamatsu S, Kubo M, Takahashi A, Hosono N, Kawaguchi T, Tsunoda T, Inazawa J, Kamatani N, Ogawa O, Fujioka T, Nakamura Y, Nakagawa H (September 2010). "Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population". Nature Genetics. 42 (9): 751–4. doi:10.1038/ng.635. PMID 20676098. S2CID 24824386.
Pearl EJ, Jarikji Z, Horb ME (March 2011). "Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes". Developmental Biology. 351 (1): 135–45. doi:10.1016/j.ydbio.2010.12.043. PMC 3042741. PMID 21215266.