RFX6
Identifiers
Aliases	RFX6, MTCHRS, MTFS, RFXDC1, dJ955L16.1, regulatory factor X6
External IDs	OMIM: 612659 MGI: 2445208 HomoloGene: 18318 GeneCards: RFX6
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q22.1 Start 116,877,212 bp[1] End 116,932,161 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 B3 Start 51,553,852 bp[2] End 51,606,528 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans duodenum rectum body of pancreas jejunal mucosa pylorus body of stomach placenta fundus right adrenal gland Top expressed in islet of Langerhans ear endoderm inner ear ectoderm intestine stomach jejunum colon duodenum 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 [3] [4]
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.^[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]