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RFX2 regulatory factor X2 [ Homo sapiens (human) ]

Gene ID: 5990, updated on 7-Jun-2020

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
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (5993164..6110601, 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 RAN binding protein 3 Neighboring gene calcyphosine Neighboring gene Sharpr-MPRA regulatory region 310 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
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 
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
 
nuclear chromatin ISA
Inferred from Sequence Alignment
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_000635.4NP_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
    Consensus CDS
    CCDS12157.1
    UniProtKB/Swiss-Prot
    P48378
    Related
    ENSP00000306335.4, ENST00000303657.10
    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_134433.3NP_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, ENST00000592546.5
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    5993164..6110601 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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