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Aliases for RFX2 Gene

Aliases for RFX2 Gene

  • Regulatory Factor X, 2 (Influences HLA Class II Expression) 2 3
  • HLA Class II Regulatory Factor RFX2 2
  • Trans-Acting Regulatory Factor 2 2
  • DNA Binding Protein RFX2 2
  • Regulatory Factor X 2 4

External Ids for RFX2 Gene

Summaries for RFX2 Gene

Entrez Gene Summary for RFX2 Gene

  • 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]

GeneCards Summary for RFX2 Gene

RFX2 (Regulatory Factor X, 2 (Influences HLA Class II Expression)) is a Protein Coding gene. An important paralog of this gene is RFX3.

Gene Wiki entry for RFX2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFX2 Gene

Genomics for RFX2 Gene

Genomic Location for RFX2 Gene

Start:
5,993,164 bp from pter
End:
6,199,572 bp from pter
Size:
206,409 bases
Orientation:
Minus strand

Genomic View for RFX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RFX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFX2 Gene

Regulatory Elements for RFX2 Gene

Proteins for RFX2 Gene

  • Protein details for RFX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48378-RFX2_HUMAN
    Recommended name:
    DNA-binding protein RFX2
    Protein Accession:
    P48378
    Secondary Accessions:
    • A8K581
    • B3KNC4
    • Q6IQ44
    • Q8SNA2

    Protein attributes for RFX2 Gene

    Size:
    723 amino acids
    Molecular mass:
    79987 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG51286.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RFX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFX2 Gene

Proteomics data for RFX2 Gene at MOPED

Post-translational modifications for RFX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RFX2 Gene

Domains for RFX2 Gene

Protein Domains for RFX2 Gene

Suggested Antigen Peptide Sequences for RFX2 Gene

Graphical View of Domain Structure for InterPro Entry

P48378

UniProtKB/Swiss-Prot:

RFX2_HUMAN
Domain:
  • Contains 1 RFX-type winged-helix DNA-binding domain.:
    • P48378
Family:
  • Belongs to the RFX family.:
    • P48378
genes like me logo Genes that share domains with RFX2: view

No data available for Gene Families for RFX2 Gene

Function for RFX2 Gene

Molecular function for RFX2 Gene

GENATLAS Biochemistry: transactivating DNA binding regulator 2,involved in MHC class II expression,binding the MHC promoter box X

Gene Ontology (GO) - Molecular Function for RFX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IBA --
GO:0003677 DNA binding TAS 8289803
GO:0003700 sequence-specific DNA binding transcription factor activity IBA --
genes like me logo Genes that share ontologies with RFX2: view

miRNA for RFX2 Gene

miRTarBase miRNAs that target RFX2
Targeting motifs for RFX2 Gene
HOMER Transcription Factor Regulatory Elements motif RFX2
  • Consensus sequence: GTTGCCATGGCAACM Submotif: canonical Cell Type: LoVo GeoId: GSE49402

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models and Transcription Factor Targeting for RFX2 Gene

Localization for RFX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RFX2 Gene COMPARTMENTS Subcellular localization image for RFX2 gene
Compartment Confidence
nucleus 4
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RFX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with RFX2: view

Pathways for RFX2 Gene

SuperPathways for RFX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RFX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
genes like me logo Genes that share ontologies with RFX2: view

No data available for Pathways by source for RFX2 Gene

Transcripts for RFX2 Gene

Unigene Clusters for RFX2 Gene

Regulatory factor X, 2 (influences HLA class II expression):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RFX2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - - -
SP2: - - -
SP3: - - - - -
SP4: - - - -
SP5: - -
SP6: - - - - -
SP7: - - - - - - - - -
SP8: - - - - -
SP9: - - - - - - -
SP10: - - - - - -
SP11:
SP12:
SP13: - - - - -
SP14: - - - - - - - - - - -
SP15:

ExUns: 19 ^ 20 ^ 21a · 21b · 21c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for RFX2 Gene

GeneLoc Exon Structure for
RFX2
ECgene alternative splicing isoforms for
RFX2

Expression for RFX2 Gene

mRNA expression in normal human tissues for RFX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RFX2 Gene

This gene is overexpressed in Testis (6.9) and Whole Blood (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RFX2 Gene

SOURCE GeneReport for Unigene cluster for RFX2 Gene Hs.465709

genes like me logo Genes that share expressions with RFX2: view

No data available for mRNA Expression by UniProt/SwissProt for RFX2 Gene

Orthologs for RFX2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RFX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFX2 35
  • 99.27 (n)
  • 99.82 (a)
RFX2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RFX2 35
  • 89.47 (n)
  • 94.15 (a)
RFX2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFX2 35
  • 90.07 (n)
  • 94.88 (a)
RFX2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rfx2 35
  • 83.59 (n)
  • 87.87 (a)
Rfx2 16
Rfx2 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RFX2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFX2 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rfx2 35
  • 83.77 (n)
  • 89.16 (a)
chicken
(Gallus gallus)
Aves RFX2 35
  • 79.83 (n)
  • 84.7 (a)
RFX2 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1771 35
tropical clawed frog
(Silurana tropicalis)
Amphibia rfx2 35
  • 72.21 (n)
  • 79.45 (a)
Str.11047 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
rfx2 35
  • 71.27 (n)
  • 76.15 (a)
rfx2 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rfx 36
  • 27 (a)
OneToMany
Rfx 37
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea daf-19 37
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RFX1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for RFX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RFX2 Gene

ENSEMBL:
Gene Tree for RFX2 (if available)
TreeFam:
Gene Tree for RFX2 (if available)

Paralogs for RFX2 Gene

Paralogs for RFX2 Gene

genes like me logo Genes that share paralogs with RFX2: view

Variants for RFX2 Gene

Sequence variations from dbSNP and Humsavar for RFX2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs476988 -- 6,087,125(-) TCCCC(A/G)CCCAG intron-variant
rs478239 -- 6,054,831(-) atgct(G/T)atttg intron-variant
rs493615 -- 6,021,843(-) CAGCC(A/G)CCAGA intron-variant
rs509079 -- 6,063,192(-) ACACT(A/C)AATCC intron-variant
rs509081 -- 6,063,191(-) CACTA(A/C)ATCCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RFX2 Gene

Variant ID Type Subtype PubMed ID
nsv910907 CNV Loss 21882294
nsv910908 CNV Loss 21882294
esv2718057 CNV Deletion 23290073
esv2718058 CNV Deletion 23290073
nsv910909 CNV Loss 21882294

Relevant External Links for RFX2 Gene

HapMap Linkage Disequilibrium report
RFX2
Human Gene Mutation Database (HGMD)
RFX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFX2 Gene

Disorders for RFX2 Gene

Relevant External Links for RFX2

Genetic Association Database (GAD)
RFX2
Human Genome Epidemiology (HuGE) Navigator
RFX2
genes like me logo Genes that share disorders with RFX2: view

No data available for UniProtKB/Swiss-Prot for RFX2 Gene

Publications for RFX2 Gene

  1. The genes for MHC class II regulatory factors RFX1 and RFX2 are located on the short arm of chromosome 19. (PMID: 1505960) Pugliatti L. … Mach B. (Genomics 1992) 2 3 23
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  3. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. (PMID: 20889312) Wang K.S. … Aragam N. (Schizophr. Res. 2010) 3 48
  4. RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins. (PMID: 8289803) Reith W. … Mach B. (Mol. Cell. Biol. 1994) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for RFX2 Gene

Sources for RFX2 Gene

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