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    RFX6 regulatory factor X6 [ Homo sapiens (human) ]

    Gene ID: 222546, updated on 11-Jun-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
    109.20210514 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
    Compare labs

    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 109.20210514

    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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