RFX6 (regulatory factor X6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
222546
Gene name Gene Name - the full gene name approved by the HGNC.
Regulatory factor X6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RFX6
Synonyms (NCBI Gene) Gene synonyms aliases
MTCHRS, MTFS, RFXDC1, dJ955L16.1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.1
Summary Summary of gene provided in NCBI Entrez 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, bu
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs144648002 C>G,T Uncertain-significance, pathogenic, benign Coding sequence variant, stop gained, missense variant
rs267607012 T>C Pathogenic Coding sequence variant, missense variant
rs267607013 G>A Pathogenic Coding sequence variant, missense variant
rs587776514 T>C Pathogenic Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs587776515 A>G Pathogenic Genic upstream transcript variant, intron variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT054825 hsa-miR-30c-5p Luciferase reporter assay, qRT-PCR, Western blot 24623846
MIRT439148 hsa-let-7c-5p 3'LIFE 25074381
MIRT439148 hsa-let-7c-5p 3'LIFE 25074381
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 20148032
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 20148032
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612659 21478 ENSG00000185002
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8HWS3
Protein name DNA-binding protein RFX6 (Regulatory factor X 6) (Regulatory factor X domain-containing protein 1)
Protein 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:254
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02257 RFX_DNA_binding 121 → 199 RFX DNA-binding domain Domain
Tissue specificity 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:20
Sequence 
MAKVPELEDTFLQAQPAPQLSPGIQEDCCVQLLGKGLLVYPEETVYLAAEGQPGGEQGGG
EKGEDPELPGAVKSEMHLNNGNFSSEEEDADNHDSKTKAADQYLSQKKTITQIVKDKKKQ
TQLTLQWLEENYIVCEGVCLPRCILYAHYLDFCRKEKLEPACAATFGKTIRQKFPLLTTR
RLGTRGHSKYHYYGIGIKESSAYYHSVYSGKGLTRFSGSKLKNEGGFTRKYSLSSKTGTL
LPEFPSAQHLVYQGCISKDKVDTLIMMYKTHCQCILDNAINGNFEEIQHFLLHFWQGMPD
HLLPLLENPVIIDIFCVCDSILYKVLTDVLIPATMQEMPESLLADIRNFAKNWEQWVVSS
LENLPEALTDKKIPIVRRFVSSLKRQTSFLHLAQIARPALFDQHVVNSMVSDIERVDLNS
IGSQALLTISGSTDTESGIYTEHDSITVFQELKDLLKKNATVEAFIEWLDTVVEQRVIKT
SKQNGRSLKKRAQDFLLKWSFFGARVMHNLTLNNASSFGSFHLIRMLLDEYILLAMETQF
NNDKEQELQNLLDKYMKNSDASKAAFTASPSSCFLANRNKGSMVSSDAVKNESHVETTYL
PLPSSQPGGLGPALHQFPAGNTDNMPLTGQMELSQIAGHLMTPPISPAMASRGSVINQGP
MAGRPPSVGPVLSAPSHCSTYPEPIYPTLPQANHDFYSTSSNYQTVFRAQPHSTSGLYPH
HTEHGRCMAWTEQQLSRDFFSGSCAGSPYNSRPPSSYGPSLQAQDSHNMQFLNTGSFNFL
SNTGAASCQGATLPPNSPNGYYGSNINYPESHRLGSMVNQHVSVISSIRSLPPYSDIHDP
LNILDDSGRKQTSSFYTDTSSPVACRTPVLASSLQTPIPSSSSQCMYGTSNQYPAQETLD
SHGTSSREMVSSLPPINTVFMGTAAGGT
Sequence length 928
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Maturity onset diabetes of the young  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome rs1562146029, rs587776514, rs587776515, rs587776516, rs267607012, rs267607013, rs587776517, rs587780440, rs144648002, rs1445567359 N/A
Diabetes Mellitus diabetes mellitus rs587776515 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Diabetes Type 2 diabetes, Type 2 diabetes or prostate cancer (pleiotropy) N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Monogenic Diabetes monogenic diabetes N/A N/A ClinVar
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Biliary Atresia Associate 34715892
Biliary Fistula Associate 23914949
Carcinoma Hepatocellular Stimulate 38093528
Cholestasis Associate 34715892
Diabetes Mellitus Associate 26264437, 26761945, 34715892, 36208030, 36418577, 38064570, 38408297
Diabetes Mellitus Transient Neonatal 1 Associate 23914949, 25497100, 26264437, 34715892, 35813646
Diabetes Mellitus Type 1 Associate 36418577
Diabetes Mellitus Type 2 Associate 29439679, 33721395, 34019234, 34387403, 36208030, 36613572, 38049589
Diarrhea Associate 23914949, 35813646
Familial duodenal atresia Associate 23914949, 34715892, 35813646