Version 5.4
Homo sapiens Gene: RFX6
Summary
InnateDB Gene IDBG-95761.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RFX6
Gene Name regulatory factor X, 6
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000185002
Encoded Proteins
IDBP-95767
regulatory factor X, 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:116877212-116932163
Strand Forward strand
Band q22.1
Transcripts
ENST00000332958 ENSP00000332208
ENST00000487683
ENST00000471966
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0003309 type B pancreatic cell differentiation
GO:0003310 pancreatic A cell differentiation
GO:0003311 pancreatic D cell differentiation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0031018 endocrine pancreas development
GO:0042593 glucose homeostasis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0050796 regulation of insulin secretion
GO:0090104 pancreatic E cell differentiation
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000019900
View Gene Order
ENSBTAG00000000264
Not yet available
Cross-References
SwissProt Q8HWS3
TrEMBL
UniProt Splice Variant
Entrez Gene 222546
UniGene Hs.352276
RefSeq NM_173560
HUGO HGNC:21478
OMIM 612659
CCDS CCDS5113
HPRD
IMGT
EMBL AL355272 BC039248 CH471051
GenPept AAH39248 CAI23444 EAW48213
RNA Seq Atlas 222546

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca