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Aliases for RFX6 Gene

Aliases for RFX6 Gene

  • Regulatory Factor X, 6 2 3
  • RFXDC1 3 4 6
  • Regulatory Factor X Domain-Containing Protein 1 3 4
  • MTCHRS 3 6
  • Regulatory Factor X Domain Containing 1 2
  • DNA-Binding Protein RFX6 3
  • Regulatory Factor X 6 4
  • DJ955L16.1 3
  • MTFS 3

External Ids for RFX6 Gene

Previous HGNC Symbols for RFX6 Gene

  • RFXDC1

Previous GeneCards Identifiers for RFX6 Gene

  • GC06P117306
  • GC06P117199
  • GC06P114778

Summaries for RFX6 Gene

Entrez Gene Summary for RFX6 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]

GeneCards Summary for RFX6 Gene

RFX6 (Regulatory Factor X, 6) is a Protein Coding gene. Diseases associated with RFX6 include mitchell-riley syndrome and pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. GO annotations related to this gene include transcription regulatory region DNA binding. An important paralog of this gene is RFX3.

UniProtKB/Swiss-Prot for RFX6 Gene

  • 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. 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.

Gene Wiki entry for RFX6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFX6 Gene

Genomics for RFX6 Gene

Regulatory Elements for RFX6 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RFX6 Gene

Start:
116,877,212 bp from pter
End:
116,932,163 bp from pter
Size:
54,952 bases
Orientation:
Plus strand

Genomic View for RFX6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RFX6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFX6 Gene

Proteins for RFX6 Gene

  • Protein details for RFX6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8HWS3-RFX6_HUMAN
    Recommended name:
    DNA-binding protein RFX6
    Protein Accession:
    Q8HWS3
    Secondary Accessions:
    • Q5T6B3

    Protein attributes for RFX6 Gene

    Size:
    928 amino acids
    Molecular mass:
    102461 Da
    Quaternary structure:
    • Interacts with RFX3.

neXtProt entry for RFX6 Gene

Proteomics data for RFX6 Gene at MOPED

Post-translational modifications for RFX6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RFX6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RFX6 Gene

Domains for RFX6 Gene

Protein Domains for RFX6 Gene

Suggested Antigen Peptide Sequences for RFX6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8HWS3

UniProtKB/Swiss-Prot:

RFX6_HUMAN :
  • Q8HWS3
Domain:
  • Contains 1 RFX-type winged-helix DNA-binding domain.
Family:
  • Belongs to the RFX family.
genes like me logo Genes that share domains with RFX6: view

No data available for Gene Families for RFX6 Gene

Function for RFX6 Gene

Molecular function for RFX6 Gene

UniProtKB/Swiss-Prot Function: 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. 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.

Gene Ontology (GO) - Molecular Function for RFX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 20148032
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IBA --
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 20148032
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IBA --
genes like me logo Genes that share ontologies with RFX6: view
genes like me logo Genes that share phenotypes with RFX6: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for RFX6 Gene

Localization for RFX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFX6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RFX6 Gene COMPARTMENTS Subcellular localization image for RFX6 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RFX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with RFX6: view

Pathways for RFX6 Gene

SuperPathways for RFX6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RFX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003309 type B pancreatic cell differentiation ISS --
GO:0003310 pancreatic A cell differentiation ISS --
GO:0003311 pancreatic D cell differentiation ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
genes like me logo Genes that share ontologies with RFX6: view

No data available for Pathways by source for RFX6 Gene

Transcripts for RFX6 Gene

mRNA/cDNA for RFX6 Gene

(19) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RFX6 Gene

Regulatory factor X, 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RFX6

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RFX6 Gene

No ASD Table

Relevant External Links for RFX6 Gene

GeneLoc Exon Structure for
RFX6
ECgene alternative splicing isoforms for
RFX6

Expression for RFX6 Gene

mRNA expression in normal human tissues for RFX6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RFX6 Gene

This gene is overexpressed in Pancreas (16.3), Stomach (10.3), and Adrenal Gland (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RFX6 Gene

SOURCE GeneReport for Unigene cluster for RFX6 Gene Hs.352276

mRNA Expression by UniProt/SwissProt for RFX6 Gene

Q8HWS3-RFX6_HUMAN
Tissue specificity: Specifically expressed in pancreas, small intestine and colon.
genes like me logo Genes that share expressions with RFX6: view

In Situ Assay Products

Orthologs for RFX6 Gene

This gene was present in the common ancestor of animals.

Orthologs for RFX6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFX6 35
  • 99.71 (n)
  • 99.46 (a)
RFX6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RFX6 35
  • 89.93 (n)
  • 91.8 (a)
RFX6 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFX6 35
  • 90.27 (n)
  • 91.32 (a)
RFX6 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rfx6 35
  • 85.51 (n)
  • 87.27 (a)
Rfx6 16
Rfx6 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RFX6 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFX6 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rfx6 35
  • 85.66 (n)
  • 88.9 (a)
chicken
(Gallus gallus)
Aves RFX6 35
  • 76.59 (n)
  • 79.12 (a)
RFX6 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RFX6 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfx6 35
  • 70 (n)
  • 71.59 (a)
zebrafish
(Danio rerio)
Actinopterygii rfx6 35
  • 67.38 (n)
  • 69.48 (a)
rfx6 36
  • 64 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea daf-19 36
  • 19 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10551 35
Species with no ortholog for RFX6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RFX6 Gene

ENSEMBL:
Gene Tree for RFX6 (if available)
TreeFam:
Gene Tree for RFX6 (if available)

Paralogs for RFX6 Gene

Paralogs for RFX6 Gene

Selected SIMAP similar genes for RFX6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RFX6: view

Variants for RFX6 Gene

Sequence variations from dbSNP and Humsavar for RFX6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs170951 -- 116,898,908(+) agaca(C/T)ccact intron-variant
rs173089 -- 116,895,503(-) AAGTG(A/G)AAACT intron-variant
rs339297 -- 116,900,379(+) CTTCC(C/T)GAGTA intron-variant
rs339298 -- 116,900,904(+) ATTTA(C/T)AAATT intron-variant
rs339299 -- 116,900,999(+) gaaac(G/T)gtact intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RFX6 Gene

Variant ID Type Subtype PubMed ID
nsv830784 CNV Gain 17160897

Relevant External Links for RFX6 Gene

HapMap Linkage Disequilibrium report
RFX6
Human Gene Mutation Database (HGMD)
RFX6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFX6 Gene

Disorders for RFX6 Gene

(1) OMIM Diseases for RFX6 Gene (612659)

UniProtKB/Swiss-Prot

RFX6_HUMAN
  • Mitchell-Riley syndrome (MTCHRS) [MIM:615710]: A disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There is no dysmorphic features. {ECO:0000269 PubMed:20148032}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for RFX6 Gene

Relevant External Links for RFX6

Genetic Association Database (GAD)
RFX6
Human Genome Epidemiology (HuGE) Navigator
RFX6
genes like me logo Genes that share disorders with RFX6: view

Publications for RFX6 Gene

  1. Identification and characterization of novel human tissue-specific RFX transcription factors. (PMID: 18673564) Aftab S. … Chen N. (BMC Evol. Biol. 2008) 3 4
  2. Rfx6 directs islet formation and insulin production in mice and humans. (PMID: 20148032) Smith S.B. … German M.S. (Nature 2010) 3 4
  3. Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. (PMID: 20676098) Takata R. … Nakagawa H. (Nat. Genet. 2010) 3 48
  4. Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes. (PMID: 21215266) Pearl E.J. … Horb M.E. (Dev. Biol. 2011) 3
  5. RFX6 is needed for the development and maintenance of the I^-cell phenotype. (PMID: 21750414) Taleb N. … Polychronakos C. (Islets 2011) 3

Products for RFX6 Gene

Sources for RFX6 Gene

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