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Aliases for RFX7 Gene

Aliases for RFX7 Gene

  • Regulatory Factor X7 2 3 5
  • Regulatory Factor X Domain-Containing Protein 2 3 4
  • Regulatory Factor X Domain Containing 2 2 3
  • Regulatory Factor X, 7 2 3
  • RFXDC2 3 4
  • DNA-Binding Protein RFX7 3
  • Regulatory Factor X 7 4

External Ids for RFX7 Gene

Previous HGNC Symbols for RFX7 Gene

  • RFXDC2

Previous GeneCards Identifiers for RFX7 Gene

  • GC15M054170
  • GC15M056379
  • GC15M033206

Summaries for RFX7 Gene

Entrez Gene Summary for RFX7 Gene

  • RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]

GeneCards Summary for RFX7 Gene

RFX7 (Regulatory Factor X7) is a Protein Coding gene. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is RFX5.

Additional gene information for RFX7 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFX7 Gene

Genomics for RFX7 Gene

GeneHancer (GH) Regulatory Elements for RFX7 Gene

Promoters and enhancers for RFX7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I056240 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 581.9 0.0 -31 6.3 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 POLR2B RFX7 TEX9
GH15I056179 Promoter 0.5 EPDnew 561 +64.2 64248 0.1 RFX7 LOC390586 GC15M057416 GC15M057437 GC15P056091
GH15I056037 Enhancer 1.5 FANTOM5 Ensembl ENCODE 20.3 +202.6 202555 6.5 PKNOX1 CLOCK FOXA2 MLX FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF213 ZNF280D RSL24D1 TEX9 PYGO1 PRTG RFX7 MNS1 TCF12 PIGBOS1 RN7SL568P
GH15I056917 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.4 -675.6 -675596 4.1 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC ZNF610 LOC145783 ZNF280D TCF12 LINC00926 RFX7 GC15M057429
GH15I056731 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.4 -489.4 -489414 3.1 SIN3A FEZF1 DMAP1 YY1 ZNF766 CBX5 ZNF143 SP3 ZHX2 MXD4 ZNF280D RFX7 TEX9 LINC00926 ENSG00000274667 GC15M057422
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RFX7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RFX7 gene promoter:

Genomic Locations for RFX7 Gene

Genomic Locations for RFX7 Gene
chr15:56,087,280-56,243,536
(GRCh38/hg38)
Size:
156,257 bases
Orientation:
Minus strand
chr15:56,379,478-56,535,483
(GRCh37/hg19)

Genomic View for RFX7 Gene

Genes around RFX7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFX7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFX7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFX7 Gene

Proteins for RFX7 Gene

  • Protein details for RFX7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2KHR2-RFX7_HUMAN
    Recommended name:
    DNA-binding protein RFX7
    Protein Accession:
    Q2KHR2
    Secondary Accessions:
    • Q6ZRR1
    • Q6ZTY6
    • Q8N3J0
    • Q9H7A9
    • Q9H956

    Protein attributes for RFX7 Gene

    Size:
    1363 amino acids
    Molecular mass:
    146896 Da
    Quaternary structure:
    • Interacts (via PxLPxI/L motif) with RFXANK (via ankyrin repeats) (PubMed:25752541). Interacts (via PxLPxI/L motif) with ANKRA2 (via ankyrin repeats) (PubMed:25752541).
    SequenceCaution:
    • Sequence=BAB14381.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14988.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC86441.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RFX7 Gene

    Alternative splice isoforms for RFX7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFX7 Gene

Post-translational modifications for RFX7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RFX7 Gene

No data available for DME Specific Peptides for RFX7 Gene

Domains & Families for RFX7 Gene

Gene Families for RFX7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for RFX7 Gene

Suggested Antigen Peptide Sequences for RFX7 Gene

Graphical View of Domain Structure for InterPro Entry

Q2KHR2

UniProtKB/Swiss-Prot:

RFX7_HUMAN :
  • The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2 and RFXANK.
  • Belongs to the RFX family.
Domain:
  • The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2 and RFXANK.
Family:
  • Belongs to the RFX family.
genes like me logo Genes that share domains with RFX7: view

Function for RFX7 Gene

Phenotypes From GWAS Catalog for RFX7 Gene

Gene Ontology (GO) - Molecular Function for RFX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IBA --
genes like me logo Genes that share ontologies with RFX7: view
genes like me logo Genes that share phenotypes with RFX7: view

Animal Models for RFX7 Gene

MGI Knock Outs for RFX7:
  • Rfx7 tm2b(EUCOMM)Hmgu

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RFX7 Gene

Localization for RFX7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFX7 Gene

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 RFX7 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RFX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with RFX7: view

Pathways & Interactions for RFX7 Gene

SuperPathway Contained pathways
1 Mesodermal Commitment Pathway
genes like me logo Genes that share pathways with RFX7: view

Pathways by source for RFX7 Gene

1 BioSystems pathway for RFX7 Gene

Interacting Proteins for RFX7 Gene

Selected Interacting proteins: Q2KHR2-RFX7_HUMAN for RFX7 Gene via IID

Gene Ontology (GO) - Biological Process for RFX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
genes like me logo Genes that share ontologies with RFX7: view

No data available for SIGNOR curated interactions for RFX7 Gene

Drugs & Compounds for RFX7 Gene

No Compound Related Data Available

Transcripts for RFX7 Gene

Unigene Clusters for RFX7 Gene

Regulatory factor X, 7:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RFX7 Gene

No ASD Table

Relevant External Links for RFX7 Gene

GeneLoc Exon Structure for
RFX7
ECgene alternative splicing isoforms for
RFX7

Expression for RFX7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RFX7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RFX7 Gene

This gene is overexpressed in Adrenal (52.8) and Kidney (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RFX7 Gene



NURSA nuclear receptor signaling pathways regulating expression of RFX7 Gene:

RFX7

SOURCE GeneReport for Unigene cluster for RFX7 Gene:

Hs.745089

Evidence on tissue expression from TISSUES for RFX7 Gene

  • Liver(4.4)
  • Blood(2.3)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with RFX7: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RFX7 Gene

Orthologs for RFX7 Gene

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

Orthologs for RFX7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFX7 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia RFX7 33 34
  • 94.36 (n)
cow
(Bos Taurus)
Mammalia RFX7 33 34
  • 92.33 (n)
mouse
(Mus musculus)
Mammalia Rfx7 33 16 34
  • 91.7 (n)
rat
(Rattus norvegicus)
Mammalia Rfx7 33
  • 91.29 (n)
oppossum
(Monodelphis domestica)
Mammalia RFX7 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFX7 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFXDC2 33
  • 78.79 (n)
RFX7 34
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RFX7 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfx7 33
  • 74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13629 33
zebrafish
(Danio rerio)
Actinopterygii LOC100538179 33
  • 60.82 (n)
RFX7 (1 of 2) 34
  • 56 (a)
OneToMany
CU075695.3 34
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9727 34
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RFX1 34
  • 14 (a)
OneToMany
Species where no ortholog for RFX7 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RFX7 Gene

ENSEMBL:
Gene Tree for RFX7 (if available)
TreeFam:
Gene Tree for RFX7 (if available)

Paralogs for RFX7 Gene

Paralogs for RFX7 Gene

(4) SIMAP similar genes for RFX7 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with RFX7: view

Variants for RFX7 Gene

Sequence variations from dbSNP and Humsavar for RFX7 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000006164 -- 56,184,815(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000008522 -- 56,181,996(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000013800 -- 56,157,023(-) C/T intron_variant
rs1000027597 -- 56,161,808(-) A/C 5_prime_UTR_variant, intron_variant
rs1000059490 -- 56,181,802(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RFX7 Gene

Variant ID Type Subtype PubMed ID
esv25623 CNV loss 19812545
esv2663193 CNV deletion 23128226
esv2666678 CNV deletion 23128226
esv2675469 CNV deletion 23128226
esv2676714 CNV deletion 23128226
esv2760380 CNV loss 21179565
esv2761872 CNV gain 21179565
esv3569620 CNV gain 25503493
esv3636575 CNV loss 21293372
esv3636577 CNV loss 21293372
esv3636578 CNV loss 21293372
esv3636579 CNV loss 21293372
nsv510401 OTHER sequence alteration 20534489
nsv519725 CNV loss 19592680
nsv528965 CNV loss 19592680
nsv569547 CNV loss 21841781
nsv827341 CNV loss 20364138
nsv833018 CNV gain 17160897
nsv833019 CNV gain 17160897
nsv951966 CNV deletion 24416366

Variation tolerance for RFX7 Gene

Gene Damage Index Score: 4.07; 60.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RFX7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFX7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFX7 Gene

Disorders for RFX7 Gene

Additional Disease Information for RFX7

No disorders were found for RFX7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RFX7 Gene

Publications for RFX7 Gene

  1. Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8. (PMID: 25752541) Nie J … Yang XJ (Structure (London, England : 1993) 2015) 3 4 58
  2. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. (PMID: 20062064) Crowther-Swanepoel D … Houlston RS (Nature genetics 2010) 3 44 58
  3. Identification and characterization of novel human tissue-specific RFX transcription factors. (PMID: 18673564) Aftab S … Chen N (BMC evolutionary biology 2008) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RFX7 Gene

Sources for RFX7 Gene

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