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    RFX2 regulatory factor X2 [ Homo sapiens (human) ]

    Gene ID: 5990, updated on 2-Oct-2018

    Summary

    Official Symbol
    RFX2provided by HGNC
    Official Full Name
    regulatory factor X2provided by HGNC
    Primary source
    HGNC:HGNC:9983
    See related
    Ensembl:ENSG00000087903 MIM:142765; Vega:OTTHUMG00000180711
    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
    Summary
    This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 41.1), lung (RPKM 6.6) and 4 other tissues See more
    Orthologs

    Genomic context

    See RFX2 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (5993164..6110653, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5993175..6110664, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene vimentin type intermediate filament associated coiled-coil protein Neighboring gene RAN binding protein 3 Neighboring gene calcyphosine Neighboring gene uncharacterized LOC100128568 Neighboring gene ribosomal protein L32 pseudogene Neighboring gene uncharacterized LOC105372255 Neighboring gene acyl-CoA synthetase bubblegum family member 2 Neighboring gene MLLT1, super elongation complex subunit

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ14226

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISM
    Inferred from Sequence Model
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acrosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    DNA-binding protein RFX2
    Names
    HLA class II regulatory factor RFX2
    regulatory factor X 2
    regulatory factor X, 2 (influences HLA class II expression)
    trans-acting regulatory factor 2

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_000635.3NP_000626.2  DNA-binding protein RFX2 isoform a

      See identical proteins and their annotated locations for NP_000626.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript and encodes the longer protein (isoform a).
      Source sequence(s)
      AI149945, BC028579, BC071571, DC400266
      Consensus CDS
      CCDS12157.1
      UniProtKB/Swiss-Prot
      P48378
      Related
      ENSP00000306335.4, OTTHUMP00000265040, ENST00000303657.9, OTTHUMT00000452687
      Conserved Domains (2) summary
      pfam02257
      Location:200272
      RFX_DNA_binding; RFX DNA-binding domain
      pfam04589
      Location:30153
      RFX1_trans_act; RFX1 transcription activation region
    2. NM_134433.2NP_602309.1  DNA-binding protein RFX2 isoform b

      See identical proteins and their annotated locations for NP_602309.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b) when it is compared to isoform a.
      Source sequence(s)
      AI149945, AK024288, BC028579, BI464247, DC400266
      Consensus CDS
      CCDS12158.1
      UniProtKB/Swiss-Prot
      P48378
      Related
      ENSP00000467166.1, OTTHUMP00000265042, ENST00000592546.5, OTTHUMT00000452689
      Conserved Domains (2) summary
      pfam02257
      Location:171247
      RFX_DNA_binding; RFX DNA-binding domain
      pfam04589
      Location:30153
      RFX1_trans_act; RFX1 transcription activation region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      5993164..6110653 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027107.1XP_016882596.1  DNA-binding protein RFX2 isoform X2

    2. XM_011528172.2XP_011526474.1  DNA-binding protein RFX2 isoform X1

      Conserved Domains (2) summary
      pfam02257
      Location:200272
      RFX_DNA_binding; RFX DNA-binding domain
      pfam04589
      Location:30153
      RFX1_trans_act; RFX1 transcription activation region

    RNA

    1. XR_001753732.2 RNA Sequence

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