RFX6 - regulatory factor X6 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 222546

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	RFX6	NCBI