Summary of RFX6
The gene codes for a protein, regulatory factor X6. Mutations are linked to Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis [R].
The Function of RFX6
Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin (PubMed:20148032, PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes (PubMed:20148032). Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription (PubMed:25497100).
Protein names
Recommended name:
DNA-binding protein RFX6Alternative name(s):
Regulatory factor X 6Regulatory factor X domain-containing protein 1
- RS339331 (RFX6) ??
- RS7248668 (RFX6) ??
- RS961764 (RFX6) ??
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Top Gene-Substance Interactions
RFX6 Interacts with These Diseases
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Substances That Increase RFX6
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Substances That Decrease RFX6
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Advanced Summary
From NCBI Gene: Mitchell-Riley syndromeFrom UniProt: Mitchell-Riley syndrome (MTCHRS): A disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There is no dysmorphic features. [MIM:615710]
From NCBI Gene: 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. 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.[provided by RefSeq, Sep 2010] From UniProt: Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin (PubMed:20148032, PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes (PubMed:20148032). Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription (PubMed:25497100).
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Expressed in pancreas (PubMed:25497100). Expressed in pancreatic beta-cells (insulin-positive cells) and alpha-cells (glucagon-positive cells) (at protein level). Specifically expressed in pancreas, small intestine and colon (PubMed:20148032). Expressed in endocrine cells in the islets (PubMed:25497100).
Molecular Function:
- Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Dna Binding
- Rna Polymerase Ii Regulatory Region Sequence-Specific Dna Binding
- Transcriptional Activator Activity, Rna Polymerase Ii Transcription Regulatory Region Sequence-Specific Binding
- Transcription Regulatory Region Dna Binding
Biological Processes:
- Endocrine Pancreas Development
- Glucose Homeostasis
- Pancreatic A Cell Differentiation
- Pancreatic D Cell Differentiation
- Pancreatic Epsilon Cell Differentiation
- Positive Regulation Of Insulin Secretion Involved In Cellular Response To Glucose Stimulus
- Positive Regulation Of Transcription, Dna-Templated
- Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
- Regulation Of Insulin Secretion
- Type B Pancreatic Cell Differentiation