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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) Band 6q22.1 Start 116,877,212 bp End 116,932,161 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10|10 B3 Start 51,553,852 bp End 51,606,528 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 222546 320995 Ensembl ENSG00000185002 ENSMUSG00000019900 UniProt Q8HWS3 Q8C7R7 RefSeq (mRNA) NM_173560 NM_001159389 NM_177306 RefSeq (protein) NP_775831 NP_001152861 NP_796280 Location (UCSC) Chr 6: 116.88 – 116.93 Mb Chr 10: 51.55 – 51.61 Mb PubMed search
Wikidata
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Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a protein that in humans is encoded by the RFX6 gene.

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.

References

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

Further reading

• 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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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