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Aliases for RFX6 Gene

Aliases for RFX6 Gene

  • Regulatory Factor X6 2 3 5
  • Regulatory Factor X Domain-Containing Protein 1 3 4
  • DNA-Binding Protein RFX6 2 3
  • Regulatory Factor X, 6 2 3
  • RFXDC1 3 4
  • Regulatory Factor X Domain Containing 1 2
  • Regulatory Factor X 6 4
  • DJ955L16.1 3
  • MTCHRS 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 X6) 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. Among its related pathways are Regulation of beta-cell development and Developmental Biology. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is RFX4.

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 (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).

Gene Wiki entry for RFX6 Gene

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

Genomics for RFX6 Gene

Regulatory Elements for RFX6 Gene

Enhancers for RFX6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G116948 0.9 ENCODE 0.2 +71.6 71611 1.0 ELF3 HNRNPUL1 FOXA2 MLX ARID4B DMAP1 RARA YY1 MIXL1 MXD4 GC06P116959 RFX6 GC06M116870
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RFX6 on UCSC Golden Path with GeneCards custom track

Genomic Location for RFX6 Gene

Chromosome:
6
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

Genes around RFX6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFX6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for RFX6 Gene

Gene Families 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 :
  • Belongs to the RFX family.
Family:
  • Belongs to the RFX family.
genes like me logo Genes that share domains with RFX6: view

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 (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).

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 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA 20148032
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with RFX6: view
genes like me logo Genes that share phenotypes with RFX6: view

Human Phenotype Ontology for RFX6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RFX6 Gene

MGI Knock Outs for RFX6:
  • Rfx6 tm1.1(KOMP)Vlcg

Animal Model Products

CRISPR Products

miRNA for RFX6 Gene

miRTarBase miRNAs that target RFX6

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RFX6 Gene

Localization for RFX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFX6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RFX6 gene
Compartment Confidence
nucleus 5
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 --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with RFX6: view

Pathways & Interactions for RFX6 Gene

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

Pathways by source for RFX6 Gene

Gene Ontology (GO) - Biological Process for RFX6 Gene

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

No data available for SIGNOR curated interactions for RFX6 Gene

Transcripts for RFX6 Gene

mRNA/cDNA for RFX6 Gene

(3) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(19) Selected AceView cDNA 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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x16.3), Stomach (x10.3), and Adrenal Gland (x5.1).

Protein differential expression in normal tissues from HIPED for RFX6 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RFX6 Gene



Protein tissue co-expression partners for RFX6 Gene

NURSA nuclear receptor signaling pathways regulating expression of RFX6 Gene:

RFX6

SOURCE GeneReport for Unigene cluster for RFX6 Gene:

Hs.352276

mRNA Expression by UniProt/SwissProt for RFX6 Gene:

Q8HWS3-RFX6_HUMAN
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).

Evidence on tissue expression from TISSUES for RFX6 Gene

  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RFX6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
Thorax:
  • esophagus
  • heart
Abdomen:
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • penis
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with RFX6: view

Primer 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 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia RFX6 34 35
  • 90.27 (n)
cow
(Bos Taurus)
Mammalia RFX6 34 35
  • 89.93 (n)
rat
(Rattus norvegicus)
Mammalia Rfx6 34
  • 85.66 (n)
mouse
(Mus musculus)
Mammalia Rfx6 34 16 35
  • 85.51 (n)
oppossum
(Monodelphis domestica)
Mammalia RFX6 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFX6 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFX6 34 35
  • 76.59 (n)
lizard
(Anolis carolinensis)
Reptilia RFX6 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfx6 34
  • 70 (n)
zebrafish
(Danio rerio)
Actinopterygii rfx6 34 35
  • 67.38 (n)
worm
(Caenorhabditis elegans)
Secernentea daf-19 35
  • 19 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10551 34
Species where no ortholog for RFX6 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs267607012 Pathogenic, Mitchell-Riley syndrome (MTCHRS) [MIM:615710] 116,895,184(+) GGTTT(C/T)CTGGA reference, missense
rs267607013 Pathogenic, Mitchell-Riley syndrome (MTCHRS) [MIM:615710] 116,882,404(+) AAGGC(A/G)GCTTG reference, missense
VAR_074215 Mitchell-Riley syndrome (MTCHRS) [MIM:615710]
rs144648002 Pathogenic 116,927,317(+) ATGGT(C/G/T)GATGC reference, missense
rs587776514 Pathogenic 116,877,954(+) AGTGG(C/T)GAGAC upstream-variant-2KB, splice-donor-variant

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

Variant ID Type Subtype PubMed ID
nsv830784 CNV gain 17160897

Variation tolerance for RFX6 Gene

Residual Variation Intolerance Score: 57.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFX6 Gene

Human Gene Mutation Database (HGMD)
RFX6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFX6

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

Disorders for RFX6 Gene

MalaCards: The human disease database

(11) MalaCards diseases for RFX6 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RFX6 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:25497100}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RFX6

Genetic Association Database (GAD)
RFX6
Human Genome Epidemiology (HuGE) Navigator
RFX6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFX6
genes like me logo Genes that share disorders with RFX6: view

No data available for Genatlas for RFX6 Gene

Publications for RFX6 Gene

  1. RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human I^ cells. (PMID: 25497100) Chandra V. … Scharfmann R. (Cell Rep 2014) 3 4 64
  2. Rfx6 directs islet formation and insulin production in mice and humans. (PMID: 20148032) Smith S.B. … German M.S. (Nature 2010) 3 4 64
  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 46 64
  4. Identification and characterization of novel human tissue-specific RFX transcription factors. (PMID: 18673564) Aftab S. … Chen N. (BMC Evol. Biol. 2008) 3 4 64
  5. Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. (PMID: 26264437) Sansbury F.H. … Shaw-Smith C.J. (Eur. J. Hum. Genet. 2015) 3 64

Products for RFX6 Gene

Sources for RFX6 Gene

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