RFX6 - regulatory factor X6 Gene

Homo sapiens

Also known as MTFS; MTCHRS; RFXDC1; dJ955L16.1

Gene ID: 222546 | Gene type: protein coding

About RFX6

Cytogenetic location: 6q22.1 Genomic coordinates (GRCh38): 6:116,877,242-116,932,161 (from NCBI)

This gene has 3 transcripts (splice variants), 201 orthologues, 7 paralogues and is associated with 3 phenotypes. Biased expression in stomach (RPKM 4.5), adrenal (RPKM 2.6) and 6 other tissues.

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]

RFX6 Products(1)

mRNA	Protein	Name
NM_173560.4	NP_775831.2	DNA-binding protein RFX6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	20148032	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	20148032	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	20148032	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endocrine pancreas development	IMP IMP: Inferred from mutant phenotype	20148032	GOA
involved in glucose homeostasis	IMP IMP: Inferred from mutant phenotype	20148032	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	20148032	GOA
involved in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP IMP: Inferred from mutant phenotype	25497100	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	20148032	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	25497100	GOA
involved in regulation of insulin secretion	IMP IMP: Inferred from mutant phenotype	20148032	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	25497100	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RFX6 Protein Structure

RFX_DNA_binding

0
200
400
600
800
928 a.a.

Protein Preferred Names

Protein Names

DNA-binding protein RFX6

regulatory factor X domain-containing protein 1

RFX6 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RFX6	Q8HWS3	PLEKHN1	Homo sapiens	Q494U1	Y2H Array	25416956
Intra	RFX6	Q8HWS3	SNRPC	Homo sapiens	Q5TAL4	Y2H Array	25416956
Intra	RFX6	Q8HWS3	PATZ1	Homo sapiens	Q9HBE1-4	Validated Y2H	32296183
Intra	RFX6	Q8HWS3	MEMO1	Homo sapiens	Q9Y316	Validated Y2H	32296183
Intra	RFX6	Q8HWS3	PRKAA1	Homo sapiens	Q13131	Y2H Array	25416956
Intra	RFX6	Q8HWS3	PRKAA1	Homo sapiens	Q13131	Validated Y2H	25416956
Intra	RFX6	Q8HWS3	PRKAA2	Homo sapiens	P54646	Validated Y2H	25416956
Intra	RFX6	Q8HWS3	NEDD9	Homo sapiens	Q14511	Y2H Prey Pooling	25416956
Intra	RFX6	Q8HWS3	VPS37C	Homo sapiens	A5D8V6	Y2H Prey Pooling	25416956
Intra	RFX6	Q8HWS3	SNRPB	Homo sapiens	P14678-2	Y2H Prey Pooling	25416956
Intra	RFX6	Q8HWS3	SNRPB	Homo sapiens	P14678-2	Validated Y2H	25416956
Intra	RFX6	Q8HWS3	SNRPB	Homo sapiens	P14678-2	Y2H Array	25416956
Intra	RFX6	Q8HWS3	TLE5	Homo sapiens	Q08117	Y2H Array	25416956
Intra	RFX6	Q8HWS3	FRS3	Homo sapiens	O43559	Y2H Array	25416956
Intra	RFX6	Q8HWS3	FRS3	Homo sapiens	O43559	Validated Y2H	25416956
Intra	RFX6	Q8HWS3	DUSP21	Homo sapiens	Q9H596	Validated Y2H	32296183
Intra	RFX6	Q8HWS3	DTX2	Homo sapiens	Q86UW9	Y2H Array	25416956
Intra	RFX6	Q8HWS3	CATSPER1	Homo sapiens	Q8NEC5	Y2H Prey Pooling	25416956
Intra	RFX6	Q8HWS3	CATSPER1	Homo sapiens	Q8NEC5	Validated Y2H	25416956
Intra	RFX6	Q8HWS3	CATSPER1	Homo sapiens	Q8NEC5	Validated Y2H	32296183
Intra	RFX6	Q8HWS3	CATSPER1	Homo sapiens	Q8NEC5	Y2H Array	25416956
Intra	RFX6	Q8HWS3	ZMYND19	Homo sapiens	Q96E35	Validated Y2H	32296183
Intra	RFX6	Q8HWS3	STK16	Homo sapiens	O75716	Y2H Prey Pooling	25416956
Intra	RFX6	Q8HWS3	TEKT4	Homo sapiens	Q8WW24	Validated Y2H	32296183
Intra	RFX6	Q8HWS3	TENT5B	Homo sapiens	Q96A09	Validated Y2H	32296183
Intra	RFX6	Q8HWS3	TEKT3	Homo sapiens	Q9BXF9	Validated Y2H	32296183
Intra	RFX6	Q8HWS3	DMRT3	Homo sapiens	Q9NQL9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Mitchell-Riley Syndrome

MTCHRS	Diabetes, Neonatal, With Pancreatic Hypoplasia, Intestinal Atresia, And Gallbladder Aplasia Or Hypoplasia
Diabetes Neonatal With Pancreatic Hypoplasia Intestinal Atresia And Gallbladder Aplasia Or Hypoplasia

Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome

Diabetes Mellitus

Diabetes

Jejunal Atresia

Atresia Of Small Intestine	Apple Peel Syndrome
Apple Peel Small Bowel Syndrome	Apsb
Small Intestinal Atresia	Intestinal Atresia Type Iiib
Jejunoileal Atresia	Congenital Atresia Of The Small Intestine
Small Intestine Atresia	Apple-Peel Intestinal Atresia
Familial Apple Peel Jejunal Atresia	Intestinal Atresia
Congenital Stenosis Of Small Intestine	Congenital Absence Of Small Intestine
Congenital Small Intestinal Stricture Nos

Neonatal Diabetes

Neonatal Diabetes Mellitus	Diabetes Mellitus Syndrome In Newborn Infant
Ndm

Pancreas, Annular

Annular Pancreas	Pancreas Annulare
Congenital Annular Pancreas

Diarrhea 4, Malabsorptive, Congenital

Enteric Anendocrinosis	Congenital Malabsorptive Diarrhea 4
DIAR4	Congenital Malabsorptive Diarrhea Due To Paucity Of Enteroendocrine Cells
Congenital Malabsorptive Diarrhoea 4	Congenital Malabsorptive Diarrhoea Due To Paucity Of Enteroendocrine Cells
Diarrhea, Type 4, Malabsorptive, Congenital

Pancreatic Agenesis

Partial Pancreatic Agenesis	Congenital Pancreatic Agenesis
Partial Agenesis Of The Pancreas	Agenesis, Pancreatic
Pancreatic Agenesis, Congenital

Duodenal Atresia

Duodenal Stenosis

Familial Duodenal Atresia

Hyperinsulinemic Hypoglycemia, Familial, 7

HHF7	Exercise-Induced Hyperinsulinemic Hypoglycemia
Exercise-Induced Hyperinsulinism	Familial Hyperinsulinemic Hypoglycemia 7
Eihi	Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency
Hyperinsulinism Due To Slc16a1 Deficiency	Hyperinsulinemic Hypoglycemia, Exercise-Induced
Exercise Induced Hyperinsulinemic Hypoglycemia	Hyperinsulinemic Hypoglycemia Exercise-Induced
Hyperinsulinemic Hypoglycemia Familial 7

Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism

Neonatal Diabetes Mellitus With Congenital Hypothyroidism	Ndh Syndrome
NDH	Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome

Permanent Neonatal Diabetes Mellitus

Pndm	Permanent Diabetes Mellitus Of Infancy
Pdmi	Neonatal Diabetes Mellitus, Permanent

Maturity-Onset Diabetes Of The Young, Type 13

Maturity-Onset Diabetes Of The Young Type 13	MODY13
Mody Type 13	Mody, Type 13
Maturity-Onset Diabetes Of The Young 13	Diabetes Of The Young, Maturity-Onset, Type 13

Maturity-Onset Diabetes Of The Young, Type 11

Maturity-Onset Diabetes Of The Young Type 11	MODY11
Maturity-Onset Diabetes Of The Young 11	Mody-11
Mody Type 11	Diabetes Of The Young, Maturity-Onset, Type 11

Intestinal Atresia

Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction

Maturity-Onset Diabetes Of The Young Type 8	MODY8
Dped	Maturity-Onset Diabetes Of The Young, Type Viii
Mody Type 8	Diabetes And Pancreatic Exocrine Dysfunction
Diabetes-Pancreatic Exocrine Dysfunction Syndrome	Diabetes And Pancreatic Exocrine
Maturity-Onset Diabetes Of The Young Type 8 With Exocrine Dysfunction	Maturity-Onset Diabetes Of The Young 8 With Exocrine Dysfunction
Diabetes And Pancreatic Exocrine Dysfunction Syndrome	Mody-8
Diabetes Of The Young, Maturity-Onset, Type 8

Maturity-Onset Diabetes Of The Young, Type 9

Maturity-Onset Diabetes Of The Young Type 9	MODY9
Maturity-Onset Diabetes Of The Young, Type Ix	Maturity-Onset Diabetes Of The Young 9
Mody-9	Mody Type 9
Diabetes Of The Young, Maturity-Onset, Type 9

Thiamine-Responsive Megaloblastic Anemia Syndrome

TRMA	Rogers Syndrome
Thiamine-Responsive Myelodysplasia	Thiamine-Responsive Anemia Syndrome
Thiamine Metabolism Dysfunction Syndrome 1	Thmd1
Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness	Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness
Thiamine Responsive Megaloblastic Anemia Syndrome	Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness
Thiamine-Responsive Megaloblastic Anemia	Thiamine-Responsive Anaemia Syndrome
Thiamine-Responsive Megaloblastic Anaemia Syndrome	Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness
Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus

Wolcott-Rallison Syndrome	Med-Iddm Syndrome
Iddm-Med Syndrome	Wolcott Rallison Syndrome
WRS	Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus
Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

Maturity-Onset Diabetes Of The Young, Type 7

Maturity-Onset Diabetes Of The Young Type 7	MODY7
Maturity-Onset Diabetes Of The Young, Type Vii	Maturity-Onset Diabetes Of The Young 7
Mody-7	Mody Type 7
Diabetes Of The Young, Maturity-Onset, Type 7

Maturity-Onset Diabetes Of The Young, Type 4

Maturity-Onset Diabetes Of The Young Type 4	MODY4
Mody, Type Iv	Mody Type 4
Mody, Type 4	Maturity-Onset Diabetes Of The Young 4
Mody-4	Diabetes Of The Young, Maturity-Onset, Type 4
Maturity-Onset Diabetes Of The Young, Type Iv

Maturity-Onset Diabetes Of The Young, Type 2

Maturity-Onset Diabetes Of The Young Type 2	MODY2
Mody Glucokinase-Related	Mody Type 2
Mody, Type 2	Mody, Glucokinase-Related
Mody, Type Ii	Maturity-Onset Diabetes Of The Young 2
Mody-2	Diabetes Of The Young, Maturity-Onset, Type 2
Diabetes Mellitus Autosomal Dominant Type Ii

Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal	Tndm
Chromosome 6-Associated Transient Diabetes Mellitus	Dmtn
Diabetes Mellitus, 6q24-Related Transient Neonatal	Tndm1
Neonatal Diabetes Mellitus, Transient	Tndm -[Transient Neonatal Diabetes Mellitus]

Maturity-Onset Diabetes Of The Young, Type 10

Maturity-Onset Diabetes Of The Young Type 10	MODY10
Maturity-Onset Diabetes Of The Young 10	Mody-10
Mody Type 10	Diabetes Of The Young, Maturity-Onset, Type 10

Maturity-Onset Diabetes Of The Young, Type 1

Maturity-Onset Diabetes Of The Young Type 1	MODY1
Mild Juvenile Diabetes Mellitus	Mody, Type I
Diabetes Mellitus Type 2	Mody Type 1
Mody, Type 1	Maturity-Onset Diabetes Of The Young 1
Mody-1	Diabetes Of The Young, Maturity-Onset, Type 1

Maturity-Onset Diabetes Of The Young, Type 6

MODY6	Maturity-Onset Diabetes Of The Young Type 6
Maturity-Onset Diabetes Of The Young 6	Mody Type 6
Mody, Type 6	Mody-6
Diabetes Of The Young, Maturity-Onset, Type 6

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3	MODY3
Mody, Type Iii	Mody Type 3
Mody, Type 3	Maturity-Onset Diabetes Of The Young 3
Mody-3	Diabetes Of The Young, Maturity-Onset, Type 3

Renal Cysts And Diabetes Syndrome

RCAD	Mody5
Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes	Cakut With Diabetes
Maturity-Onset Diabetes Of The Young Type 5	Tubulointerstitial Kidney Disease, Autosomal Dominant, 3
Adtkd3	Atypical Familial Juvenile Hyperuricemic Nephropathy
Atypical Fjhn	Familial Hypoplastic Glomerulocystic Kidney
Maturity-Onset Diabetes Of The Young, Type 5	Hyperuricemic Nephropathy, Familial Juvenile, Atypical
Fjhn, Atypical	Glomerulocystic Kidney Disease, Hypoplastic Type
Glomerulocystic Kidney, Familial Hypoplastic	Hypoplastic Type Glomerulocystic Kidney Disease
Glomerulocystic Kidney Disease Hypoplastic Type	Renal-Diabetes Mody5 Syndrome

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Wolfram Syndrome

Didmoad Syndrome	Didmoad
Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness	Wfs
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness	Didmoadud
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome	Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Crigler-Najjar Syndrome, Type I

Crigler-Najjar Syndrome	Crigler-Najjar Syndrome Type 1
Bilirubin Udp Glucuronyl Transferase Deficiency	Crigler Najjar Syndrome
Crigler Najjar Syndrome, Type 1	Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency
Bilirubin-Ugt Deficiency	Hyperbilirubinemia, Crigler-Najjar Type I
Hblrcn1	Familial Nonhemolytic Unconjugated Hyperbilirubinemia
Hereditary Unconjugated Hyperbilirubinemia	Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1
Bilirubin-Ugt Deficiency Type 1	Crigler-Najjar Syndrome 1
CN1	Cn-I
Crigler-Najjar Syndrome Type I	Hereditary Unconjugated Hyperbilirubinaemia
Ugt Deficiency	Bilirubin Glucuronosyltransferase Deficiency
Crigler-Najjar Disease Or Syndrome	Deficiency Of Glucuronosyltransferase
Glucuronyl Transferase Deficiency	Glucuronyltransferase Deficiency
Udp Glucuronyl Transferase Deficiency	Cns - [Crigler-Najjar Syndrome]
Congenital Familial Nonhemolytic Jaundice

Congenital Hypothyroidism

Cretinism	Neonatal Hypothyroidism
Ch	Cht
Congenital Myxedema	Myxedema, Congenital
Endemic Cretinism	Congenital Iodine-Deficiency Syndrome
Fetal Iodine Deficiency Syndrome	Congenital Iodine-Deficiency Hypothyroidism Nos

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11884	RFX6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RFX6	VGNC	VGNC:33898
Rattus norvegicus	RFX6	RGD	RGD:1307491
Canis familiaris	RFX6	VGNC	VGNC:45508
Macaca mulatta	RFX6	VGNC	VGNC:76800
Felis catus	RFX6	VGNC	VGNC:64587
Mus musculus	RFX6	MGD	MGI:2445208