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Aliases for RFX2 Gene

Aliases for RFX2 Gene

  • Regulatory Factor X2 2 3 5
  • Regulatory Factor X, 2 (Influences HLA Class II Expression) 2
  • 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

Previous GeneCards Identifiers for RFX2 Gene

  • GC19M006085
  • GC19M005933
  • GC19M005752

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 X2) is a Protein Coding gene. Diseases associated with RFX2 include Spermatic Cord Torsion. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is RFX3.

UniProtKB/Swiss-Prot for RFX2 Gene

  • Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (By similarity). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5-GTNRCC(0-3N)RGYAAC-3 present on promoters (PubMed:10330134). Probably activates transcription of the testis-specific histone gene HIST1H1T (By similarity).

Gene Wiki entry for RFX2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFX2 Gene

Genomics for RFX2 Gene

Regulatory Elements for RFX2 Gene

Enhancers for RFX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G006055 2 FANTOM5 Ensembl ENCODE dbSUPER 27.8 +137.1 137092 13.8 FOXA2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A FEZF1 YY1 ZNF766 FOS RFX2 ACSBG2 PRR22 SAFB SNRPEP4 SLC25A41 CATSPERD DENND1C SAFB2 TNFSF9
GH19G006085 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.2 +111.8 111779 3.7 HDGF PKNOX1 ARID4B FEZF1 ZNF2 ZNF766 FOS JUNB REST TBX21 ZNF557 SAFB RFX2 ACSBG2 ENSG00000267571 VMAC SNRPEP4 SH2D3A FUT5 SAFB2
GH19G006075 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +122.9 122864 3.1 GTF2F1 TBP PKNOX1 MAX ZNF175 CEBPG RAD21 NR2F6 TRIM24 ZNF584 RFX2 ACSBG2 LOC100128144 GC19P006105
GH19G006070 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.2 +128.1 128072 2.4 CEBPB CHD4 MAFG JUND ZNF316 EED IKZF1 NFE2 MAFK EMSY RFX2 ACSBG2 LOC100128144 ENSG00000267262
GH19G006215 1.4 Ensembl ENCODE dbSUPER 11.3 -20.7 -20738 8.8 HDGF ARID4B SIN3A ZNF2 GATA2 ZNF143 KLF7 ZNF263 REST MYNN ACSBG2 RFX2 NDUFA11 VMAC FUT5 SLC25A23 GC19M006213 GC19M006237
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RFX2 on UCSC Golden Path with GeneCards custom track

Promoters for RFX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106479 853 3201 HDGF PKNOX1 CREB3L1 ARNT SIN3A FEZF1 YY1 ZNF766 ZNF143 ZNF207

Genomic Location for RFX2 Gene

Chromosome:
19
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

Genes around RFX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
    • Homodimer; probably only forms homodimers in testis (By similarity). Heterodimer; heterodimerizes with RFX1 and RFX3 (PubMed:10330134).
    SequenceCaution:
    • Sequence=BAG51286.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RFX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFX2 Gene

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 & Families for RFX2 Gene

Gene Families for RFX2 Gene

Suggested Antigen Peptide Sequences for RFX2 Gene

Graphical View of Domain Structure for InterPro Entry

P48378

UniProtKB/Swiss-Prot:

RFX2_HUMAN :
  • Belongs to the RFX family.
Family:
  • Belongs to the RFX family.
genes like me logo Genes that share domains with RFX2: view

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
UniProtKB/Swiss-Prot Function:
Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (By similarity). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5-GTNRCC(0-3N)RGYAAC-3 present on promoters (PubMed:10330134). Probably activates transcription of the testis-specific histone gene HIST1H1T (By similarity).

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 ISS,IBA --
GO:0003677 DNA binding TAS,IEA 8289803
GO:0003700 transcription factor activity, sequence-specific DNA binding IBA,ISS --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with RFX2: view
genes like me logo Genes that share phenotypes with RFX2: view

Animal Model Products

Targeted motifs for RFX2 Gene
HOMER Transcription Factor Regulatory Elements motif RFX2
  • Consensus sequence: GTTGCCATGGCAACM Submotif: canonical Cell Type: LoVo GEO ID: GSE49402

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models and Transcription Factor Targets for RFX2 Gene

Localization for RFX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFX2 Gene

Nucleus. Cytoplasm. Note=Mainly expressed in the nucleus and at lower level in cytoplasm. {ECO:0000250 UniProtKB:B2GV50}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RFX2 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RFX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with RFX2: view

Pathways & Interactions for RFX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RFX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001675 acrosome assembly ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter ISS,IBA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with RFX2: view

No data available for Pathways by source and SIGNOR curated interactions 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.9) and Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for RFX2 Gene

This gene is overexpressed in Testis (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RFX2 Gene



Protein tissue co-expression partners for RFX2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RFX2 Gene:

RFX2

SOURCE GeneReport for Unigene cluster for RFX2 Gene:

Hs.465709

Evidence on tissue expression from TISSUES for RFX2 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with RFX2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia RFX2 34 35
  • 90.07 (n)
cow
(Bos Taurus)
Mammalia RFX2 34 35
  • 89.47 (n)
oppossum
(Monodelphis domestica)
Mammalia RFX2 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rfx2 34
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Rfx2 34 16 35
  • 83.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RFX2 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFX2 34 35
  • 79.83 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rfx2 34
  • 72.21 (n)
Str.11047 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1771 34
zebrafish
(Danio rerio)
Actinopterygii rfx2 34 35
  • 71.27 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Rfx 36 35
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea daf-19 36
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RFX1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToMany
Species where no ortholog for RFX2 was found in the sources mined by GeneCards:
  • 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
rs748493309 A breast cancer sample 6,040,174(+) GGCCT(C/T)GAAGT nc-transcript-variant, reference, missense
VAR_036530 A breast cancer sample
rs1000040811 -- 6,047,577(+) ACAAG(C/T)TCAAG intron-variant
rs1000056740 -- 6,085,194(+) AATAC(C/T)GTTTT intron-variant
rs1000113679 -- 6,078,498(+) AGGTA(C/T)CGTCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2718057 CNV deletion 23290073
esv2718058 CNV deletion 23290073
esv3583213 CNV loss 25503493
nsv1140144 CNV insertion 24896259
nsv1142926 CNV tandem duplication 24896259
nsv978761 CNV duplication 23825009

Variation tolerance for RFX2 Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.08; 84.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFX2 Gene

Human Gene Mutation Database (HGMD)
RFX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFX2

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

Disorders for RFX2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RFX2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spermatic cord torsion
  • testicular torsion
- elite association - COSMIC cancer census association via MalaCards
Search RFX2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RFX2

Genetic Association Database (GAD)
RFX2
Human Genome Epidemiology (HuGE) Navigator
RFX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFX2
genes like me logo Genes that share disorders with RFX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  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 46 64
  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 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Dimeric RFX proteins contribute to the activity and lineage specificity of the interleukin-5 receptor alpha promoter through activation and repression domains. (PMID: 10330134) Iwama A. … Sun Z. (Mol. Cell. Biol. 1999) 3 4 64

Products for RFX2 Gene

Sources for RFX2 Gene

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