Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	222546
Gene name	Regulatory factor X6
Gene symbol	RFX6
Synonyms (NCBI Gene)	MTCHRSMTFSRFXDC1dJ955L16.1
Chromosome	6
Chromosome location	6q22.1
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, bu

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
rs587776516	T>G	Pathogenic	Splice donor variant
rs587776517	AGGTATCAATTACA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs587780440	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs749827445	C>T	Pathogenic	Stop gained, coding sequence variant
rs781291978	C>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1445567359	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1562146029	TCTA>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054825	hsa-miR-30c-5p	Luciferase reporter assayqRT-PCRWestern blot	24623846
MIRT439148	hsa-let-7c-5p	3'LIFE	25074381
MIRT439148	hsa-let-7c-5p	3'LIFE	25074381

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	20148032
GO:0003309	Process	Type B pancreatic cell differentiation	IEA
GO:0003309	Process	Type B pancreatic cell differentiation	ISS
GO:0003310	Process	Pancreatic A cell differentiation	IEA
GO:0003310	Process	Pancreatic A cell differentiation	ISS
GO:0003311	Process	Pancreatic D cell differentiation	IEA
GO:0003311	Process	Pancreatic D cell differentiation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 20148032, 25416956, 26871637, 32296183
GO:0005634	Component	Nucleus	IDA	25497100
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0031018	Process	Endocrine pancreas development	IEA
GO:0031018	Process	Endocrine pancreas development	IMP	20148032
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	25497100
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	IMP	20148032
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	20148032
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20148032
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	25497100
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	IMP	20148032
GO:0090104	Process	Pancreatic epsilon cell differentiation	IEA
GO:0090104	Process	Pancreatic epsilon cell differentiation	ISS

MIM	HGNC	e!Ensembl
612659	21478	ENSG00000185002

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

	KEGG
	Maturity onset diabetes of the young

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diabetes mellitus	Pathogenic	rs587776515	RCV001225303
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	Likely pathogenic; Pathogenic	rs1775769921, rs587780440, rs587776514, rs587776515, rs587776516, rs267607012, rs267607013, rs587776517, rs144648002, rs1445567359, rs1562146029	RCV001333628 RCV000118186 RCV000000525 RCV000000526 RCV000000527 RCV000000528 RCV000000529 RCV000000530 RCV000208877 RCV000714518 RCV000714519
Maturity-onset diabetes of the young	Likely pathogenic	rs1774484879	RCV003994672
RFX6-related disorder	Likely pathogenic	rs267607013, rs2481937153, rs2482492907, rs2481946427	RCV003415604 RCV003410529 RCV003404611 RCV003902192

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Likely benign	rs201996097	RCV005907098
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs77146142, rs57924353, rs9489056, rs146081967, rs1018054636, rs144648002, rs201522681, rs146115506, rs751261241, rs146773792, rs200522460, rs377721888, rs1775460105, rs762488509, rs867520268, rs138343620 View all (1 more)	RCV000445385 RCV000664104 RCV000445435 RCV000445479 RCV000445513 RCV000445547 RCV000445405 RCV000664103 RCV000664105 RCV001174491 RCV001174492 RCV001174493 RCV001174494 RCV001174495 RCV001174496 RCV001174497
Ovarian serous cystadenocarcinoma	Benign	rs73563500	RCV005915824
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs144648002	RCV005898154

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Fatty Liver	Associate	36895461
Gallbladder Agenesis Of	Associate	23914949, 35813646
Hereditary renal agenesis	Associate	34715892
Intestinal Atresia	Associate	23914949, 26264437, 34715892
Intestinal Diseases	Associate	32410729
Liver Diseases	Associate	36895461
Mason Type Diabetes	Associate	33721395
Melanoma	Associate	32462000
Mitchell Riley Syndrome	Associate	26264437, 26761945, 34715892, 35813646
Neoplasm Metastasis	Associate	38093528
Neoplasms	Associate	32462000, 34715892, 38093528
Pancreatitis	Associate	23914949, 34715892, 35813646
Personality Disorders	Associate	38052806
Prostatic Neoplasms	Associate	22056501, 22114074, 22662242, 23803082, 26398868, 26537068, 26979803, 37550764, 38052806
Pseudoacromegaly with Severe Insulin Resistance	Stimulate	38408297
Stomach Diseases	Associate	34715892
Ventricular Remodeling	Associate	36895461
Volvulus Of Midgut	Associate	23914949, 34715892

RFX6 (regulatory factor X6)