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Aliases for RFX8 Gene

Aliases for RFX8 Gene

  • RFX Family Member 8, Lacking RFX DNA Binding Domain 2 3 5
  • RFX Gene Family Member 8, Lacking RFX DNA Binding Domain 2 3
  • Regulatory Factor X, 8 2 3
  • DNA-Binding Protein RFX8 3
  • Regulatory Factor X 8 4

External Ids for RFX8 Gene

Previous GeneCards Identifiers for RFX8 Gene

  • GC02M102013
  • GC02M095777

Summaries for RFX8 Gene

GeneCards Summary for RFX8 Gene

RFX8 (RFX Family Member 8, Lacking RFX DNA Binding Domain) is a Protein Coding gene. 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 RFX6.

UniProtKB/Swiss-Prot for RFX8 Gene

  • May be a transcription factor.

Additional gene information for RFX8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFX8 Gene

Genomics for RFX8 Gene

GeneHancer (GH) Regulatory Elements for RFX8 Gene

Promoters and enhancers for RFX8 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
GH02J101472 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 670.8 +0.8 801 3.2 HLF REST GABPA POLR2A MXD3 CEBPA IKZF1 ZFX RFX8 GC02M101425
GH02J101514 Enhancer 1.3 FANTOM5 Ensembl ENCODE 27.9 -42.9 -42928 6.3 ELF3 FOXA2 ARID4B RAD21 RARA ETS1 EGR1 SCRT2 ATF7 FOS RFX8 LINC01870 SNORD89 MAP4K4 LOC100421289 RPS6P3
GH02J101499 Enhancer 0.6 Ensembl ENCODE 32.6 -26.1 -26072 2.6 ZNF547 SCRT2 ZNF7 RFX8 LINC01870 RPS6P3
GH02J101441 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 12 +32.7 32729 1.9 CTCF SP5 MAX MNT RAD21 ETV5 ZNF48 ZNF205 TEAD3 XRCC5 RFX8 LINC01870 RNF149 MAP4K4 GC02M101425
GH02J101446 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 15.8 +28.1 28131 1.1 JUND POLR2A FOS RFX8 LINC01870 MAP4K4 RNF149 GC02M101425
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RFX8 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RFX8 Gene

Genomic Locations for RFX8 Gene
chr2:101,397,344-101,475,096
(GRCh38/hg38)
Size:
77,753 bases
Orientation:
Minus strand
chr2:102,013,823-102,091,165
(GRCh37/hg19)
Size:
77,343 bases
Orientation:
Minus strand

Genomic View for RFX8 Gene

Genes around RFX8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFX8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFX8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFX8 Gene

Proteins for RFX8 Gene

  • Protein details for RFX8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZV50-RFX8_HUMAN
    Recommended name:
    DNA-binding protein RFX8
    Protein Accession:
    Q6ZV50
    Secondary Accessions:
    • B4DQ32

    Protein attributes for RFX8 Gene

    Size:
    586 amino acids
    Molecular mass:
    66266 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RFX8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFX8 Gene

Post-translational modifications for RFX8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RFX8 Gene

Domains & Families for RFX8 Gene

Gene Families for RFX8 Gene

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

Protein Domains for RFX8 Gene

Suggested Antigen Peptide Sequences for RFX8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZV50

UniProtKB/Swiss-Prot:

RFX8_HUMAN :
  • Belongs to the RFX family.
Family:
  • Belongs to the RFX family.
genes like me logo Genes that share domains with RFX8: view

Function for RFX8 Gene

Molecular function for RFX8 Gene

UniProtKB/Swiss-Prot Function:
May be a transcription factor.

Phenotypes From GWAS Catalog for RFX8 Gene

Gene Ontology (GO) - Molecular Function for RFX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IBA --
genes like me logo Genes that share ontologies with RFX8: view
genes like me logo Genes that share phenotypes with RFX8: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFX8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RFX8 Gene

Localization for RFX8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFX8 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 RFX8 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RFX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with RFX8: view

Pathways & Interactions for RFX8 Gene

No Data Available

Interacting Proteins for RFX8 Gene

Gene Ontology (GO) - Biological Process for RFX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0021914 negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning IBA --
genes like me logo Genes that share ontologies with RFX8: view

No data available for Pathways by source and SIGNOR curated interactions for RFX8 Gene

Drugs & Compounds for RFX8 Gene

No Compound Related Data Available

Transcripts for RFX8 Gene

mRNA/cDNA for RFX8 Gene

(12) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RFX8 Gene

RFX family member 8, lacking RFX DNA binding domain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFX8

Alternative Splicing Database (ASD) splice patterns (SP) for RFX8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - -
SP2:

Relevant External Links for RFX8 Gene

GeneLoc Exon Structure for
RFX8
ECgene alternative splicing isoforms for
RFX8

Expression for RFX8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RFX8 Gene

Protein differential expression in normal tissues from HIPED for RFX8 Gene

This gene is overexpressed in Nasal epithelium (59.7) and Fetal heart (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RFX8 Gene



Protein tissue co-expression partners for RFX8 Gene

NURSA nuclear receptor signaling pathways regulating expression of RFX8 Gene:

RFX8

SOURCE GeneReport for Unigene cluster for RFX8 Gene:

Hs.662488

Evidence on tissue expression from TISSUES for RFX8 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with RFX8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RFX8 Gene

Orthologs for RFX8 Gene

This gene was present in the common ancestor of animals.

Orthologs for RFX8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFX8 34 33
  • 93.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RFX8 34 33
  • 85.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RFX8 34 33
  • 81.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rfx8 16 34 33
  • 75.64 (n)
rat
(Rattus norvegicus)
Mammalia Rfx8 33
  • 74.39 (n)
oppossum
(Monodelphis domestica)
Mammalia RFX8 34
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 13 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RFX8 34 33
  • 67.02 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea daf-19 34
  • 9 (a)
OneToMany
Species where no ortholog for RFX8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for RFX8 Gene

ENSEMBL:
Gene Tree for RFX8 (if available)
TreeFam:
Gene Tree for RFX8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RFX8: view image

Paralogs for RFX8 Gene

Paralogs for RFX8 Gene

(3) SIMAP similar genes for RFX8 Gene using alignment to 3 proteins:

  • RFX8_HUMAN
  • D6RAX4_HUMAN
  • E9PDA6_HUMAN
genes like me logo Genes that share paralogs with RFX8: view

Variants for RFX8 Gene

Sequence variations from dbSNP and Humsavar for RFX8 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000012656 -- 101,460,689(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000038474 -- 101,435,113(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000079067 -- 101,454,935(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000102539 -- 101,441,396(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000141999 -- 101,462,442(-) G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RFX8 Gene

Variant ID Type Subtype PubMed ID
esv22386 CNV gain 19812545
esv2660414 CNV deletion 23128226
esv2720448 CNV deletion 23290073
esv3591767 CNV gain 21293372
esv3591768 CNV gain 21293372
esv3892993 CNV gain 25118596
nsv1117246 CNV deletion 24896259
nsv1136390 CNV deletion 24896259
nsv1138822 CNV deletion 24896259
nsv476263 CNV novel sequence insertion 20440878
nsv524940 CNV loss 19592680

Variation tolerance for RFX8 Gene

Gene Damage Index Score: 18.20; 98.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RFX8 Gene

Human Gene Mutation Database (HGMD)
RFX8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFX8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFX8 Gene

Disorders for RFX8 Gene

Additional Disease Information for RFX8

No disorders were found for RFX8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RFX8 Gene

Publications for RFX8 Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. (PMID: 23518928) Liu M … Weinshilboum RM (Molecular endocrinology (Baltimore, Md.) 2013) 3 58
  4. A census of human transcription factors: function, expression and evolution. (PMID: 19274049) Vaquerizas JM … Luscombe NM (Nature reviews. Genetics 2009) 3 58
  5. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PMID: 17903294) Yang Q … O'Donnell CJ (BMC medical genetics 2007) 44 58

Products for RFX8 Gene

Sources for RFX8 Gene

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