RFX6 regulatory factor X6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RFX6provided by HGNC
Official Full Name: regulatory factor X6provided by HGNC
Primary source: HGNC:HGNC:21478
See related: Ensembl:ENSG00000185002 MIM:612659; AllianceGenome:HGNC:21478
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTFS; MTCHRS; RFXDC1; dJ955L16.1
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, 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]
Expression: Biased expression in stomach (RPKM 4.5), adrenal (RPKM 2.6) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (116877242..116932161)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (118061028..118115944)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (117198405..117253324)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.
Title: RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.
An Inherited Allele Confers Prostate Cancer Progression and Drug Resistance via RFX6/HOXA10-Orchestrated TGFbeta Signaling.
Title: An Inherited Allele Confers Prostate Cancer Progression and Drug Resistance via RFX6/HOXA10-Orchestrated TGFβ Signaling.
RFX6 regulates human intestinal patterning and function upstream of PDX1.
Title: RFX6 regulates human intestinal patterning and function upstream of PDX1.
RFX6 Maintains Gene Expression and Function of Adult Human Islet alpha-Cells.
Title: RFX6 Maintains Gene Expression and Function of Adult Human Islet α-Cells.
RFX6 facilitates aerobic glycolysis-mediated growth and metastasis of hepatocellular carcinoma through targeting PGAM1.
Title: RFX6 facilitates aerobic glycolysis-mediated growth and metastasis of hepatocellular carcinoma through targeting PGAM1.
A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.
Title: A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.
Title: Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.
RFX6 heterozygous protein truncating variants cause reduced penetrance maturity-onset diabetes of the young (MODY).
Title: Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
study reports two individuals each with compound heterozygous RFX6 nonsense mutations and an intestinal phenotype consistent with Mitchell-Riley syndrome, but with onset of diabetes in childhood rather than in the first 2 weeks of life
Title: Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.
association of the THADA, FOXP4, GPRC6A/RFX6 and 8q24 genes with prostate cancer in Asian populations.
Title: Association of THADA, FOXP4, GPRC6A/RFX6 genes and 8q24 risk alleles with prostate cancer in Northern Chinese men.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MedGen: C2748662 OMIM: 615710 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in endocrine pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pancreatic A cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in pancreatic D cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in pancreatic epsilon cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in type B pancreatic cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: DNA-binding protein RFX6

Names: regulatory factor X domain-containing protein 1; regulatory factor X, 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027699.1 RefSeqGene

Range

5030..59949

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_173560.4 → NP_775831.2 DNA-binding protein RFX6

See identical proteins and their annotated locations for NP_775831.2

Status: REVIEWED

Source sequence(s)

BC039248, BQ269808, CA842450, CA947154

Consensus CDS

CCDS5113.1

UniProtKB/Swiss-Prot

Q5T6B3, Q8HWS3

Related

ENSP00000332208.2, ENST00000332958.3

Conserved Domains (1) summary

pfam02257
Location:124 → 197

RFX_DNA_binding; RFX DNA-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

116877242..116932161

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535589.2 → XP_011533891.1 DNA-binding protein RFX6 isoform X1

Conserved Domains (1) summary

pfam02257
Location:124 → 197

RFX_DNA_binding; RFX DNA-binding domain
XM_017010477.2 → XP_016865966.1 DNA-binding protein RFX6 isoform X2