======= RFX6 ======= == Gene Information == * **Official Symbol**: RFX6 * **Official Name**: regulatory factor X6 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=222546|222546]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8HWS3|Q8HWS3]] * **Interactions**: [[https://thebiogrid.org/search.php?search=RFX6&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RFX6|Open PubMed]] * **OMIM**: [[https://omim.org/entry/612659|Open OMIM]] == Function Summary == * **Entrez Summary**: 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]. * **UniProt Summary**: 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). {ECO:0000269|PubMed:20148032, ECO:0000269|PubMed:25497100}. |RFX DNA binding| |pancreatic epsilon cell differentiation| |pancreatic D cell differentiation| |pancreatic A cell differentiation| |type B pancreatic cell differentiation| |enteroendocrine cell differentiation| |positive regulation of insulin secretion involved in cellular response to glucose stimulus| |endocrine pancreas development| |glandular epithelial cell differentiation| |regulation of insulin secretion involved in cellular response to glucose stimulus| |pancreas development| |positive regulation of insulin secretion| |columnar/cuboidal epithelial cell differentiation| |positive regulation of peptide hormone secretion| |endocrine system development| |positive regulation of hormone secretion| |regulation of insulin secretion| |glucose homeostasis| |carbohydrate homeostasis| |regulation of peptide hormone secretion| |transcription regulatory region DNA binding| |regulation of hormone secretion| |positive regulation of protein secretion| |positive regulation of peptide secretion| |RNA polymerase II regulatory region sequence-specific DNA binding| |positive regulation of secretion by cell| |positive regulation of protein transport| |positive regulation of secretion| |DNA-binding transcription activator activity, RNA polymerase II-specific| |positive regulation of establishment of protein localization| |regulation of protein secretion| |regulation of peptide secretion| |RNA polymerase II proximal promoter sequence-specific DNA binding| |regulation of hormone levels| |DNA-binding transcription factor activity| |epithelial cell differentiation| |regulation of protein transport| |regulation of peptide transport| |regulation of establishment of protein localization| |regulation of secretion by cell| |regulation of secretion| |nucleolus| |regulation of cellular localization| |positive regulation of transport| |regulation of protein localization| |chemical homeostasis| |epithelium development| |positive regulation of transcription by RNA polymerase II| |positive regulation of transcription, DNA-templated| |DNA-binding transcription factor activity, RNA polymerase II-specific| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |homeostatic process| |positive regulation of RNA metabolic process| |tissue development| |positive regulation of cell communication| |positive regulation of signaling| |regulation of transport| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |positive regulation of biosynthetic process| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 7840 * **Expression level (log2 read counts)**: -6.6 {{:chemogenomics:nalm6 dist.png?nolink |}}