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RFX6 regulatory factor X6 [ Homo sapiens (human) ]

Gene ID: 222546, updated on 23-Nov-2021

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
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
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Genomic context

See RFX6 in Genome Data Viewer
Location:
6q22.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (116877218..116932163)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (117198405..117253324)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377963 Neighboring gene G protein-coupled receptor class C group 6 member A Neighboring gene ribosomal protein S29 pseudogene 13 Neighboring gene RNA, 5S ribosomal pseudogene 214

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
GeneReviews: Not available
Mitchell-Riley syndrome
MedGen: C2748662 OMIM: 615710 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33442

Gene Ontology Provided by GOA

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

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

  1. NG_027699.1 RefSeqGene

    Range
    5030..59949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_173560.4NP_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
    Q8HWS3
    Related
    ENSP00000332208.2, ENST00000332958.3
    Conserved Domains (1) summary
    pfam02257
    Location:124197
    RFX_DNA_binding; RFX DNA-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    116877218..116932163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam02257
    Location:124197
    RFX_DNA_binding; RFX DNA-binding domain
  2. XM_017010477.1XP_016865966.1  DNA-binding protein RFX6 isoform X2

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