Aliases for RFX8 Gene

Aliases for RFX8 Gene

  • Regulatory Factor X8 2 3 5
  • RFX Family Member 8, Lacking RFX DNA Binding Domain 2 3
  • DNA-Binding Protein RFX8 3 4
  • Regulatory Factor X, 8 2 3
  • RFX Gene Family Member 8, Lacking RFX DNA Binding Domain 2
  • Regulatory Factor X 8 4
  • FLJ42986 2
  • RFX8 5

External Ids for RFX8 Gene

Previous GeneCards Identifiers for RFX8 Gene

  • GC02M102013
  • GC02M095777

Summaries for RFX8 Gene

GeneCards Summary for RFX8 Gene

RFX8 (Regulatory Factor X8) 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 Summary for RFX8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RFX8 Gene

Genomics for RFX8 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 270.7 +0.9 884 3.2 CEBPA GABPA YY1 SPI1 POLR2A MAFK MXD3 REST IKZF1 HLF RFX8 lnc-CREG2-3 CREG2
GH02J101514 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 28 -42.8 -42845 6.3 CEBPA ETS1 CTCF THAP11 CEBPB FOXA2 VEZF1 MAFF SAP130 RXRA RFX8 LINC01870 SNORD89 MAP4K4 ENSG00000286047 PRCPP1
GH02J101440 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.6 +33.6 33631 3.5 IKZF1 ZIC2 SMAD4 TAL1 RXRA RARA TEAD3 BCL6 CTCF RAD21 RFX8 LINC01870 RNF149 MAP4K4 lnc-CREG2-2 piR-55194-201 CREG2
GH02J101499 Enhancer 0.5 Ensembl ENCODE 32.6 -26.1 -26066 2.7 ZNF547 ZNF7 RFX8 LINC01870 lnc-RFX8-2 MAP4K4
GH02J101446 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 15.8 +28.4 28378 1.6 SPI1 JUND POLR2A EP300 FOS RFX8 LINC01870 MAP4K4 RNF149 lnc-CREG2-2 piR-55194-201 CREG2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RFX8

Genomic Locations for RFX8 Gene

Latest Assembly
chr2:101,397,344-101,475,179
(GRCh38/hg38)
Size:
77,836 bases
Orientation:
Minus strand

Previous Assembly
chr2:102,013,821-102,091,574
(GRCh37/hg19 by Entrez Gene)
Size:
77,754 bases
Orientation:
Minus strand

chr2:102,013,823-102,091,165
(GRCh37/hg19 by Ensembl)
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
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    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:
  • Regulatory factor X 8 (RFX8_HUMAN)

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 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with RFX8: view
genes like me logo Genes that share phenotypes with RFX8: view

Animal Models for RFX8 Gene

MGI Knock Outs for RFX8:
  • Rfx8 Rfx8<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
cytoskeleton 1
endosome 1

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:0000785 chromatin ISA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RFX8: view

Pathways & Interactions for RFX8 Gene

PathCards logo

SuperPathways 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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
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

5 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • 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

Expression for RFX8 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

Primer products for research

No data available for 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 30 31
  • 93.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RFX8 30 31
  • 85.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RFX8 30 31
  • 81.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rfx8 30 17 31
  • 75.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rfx8 30
  • 74.39 (n)
Oppossum
(Monodelphis domestica)
Mammalia RFX8 31
  • 56 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 13 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves RFX8 30 31
  • 67.02 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea daf-19 31
  • 9 (a)
OneToMany
Species where no ortholog for RFX8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RFX8 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs111964641 Likely Benign: not provided 101,417,555(-) A/C
NM_001145664.2(RFX8):c.481T>G (p.Leu161Val)
MISSENSE_VARIANT,SYNONYMOUS
rs183254040 Likely Benign: not provided 101,466,792(-) C/G
NM_001145664.2(RFX8):c.57G>C (p.Pro19=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs75516500 Benign: not provided 101,418,897(-) G/A
NM_001145664.2(RFX8):c.305C>T (p.Pro102Leu)
MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RFX8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for RFX8 Gene

Additional Disease Information for RFX8

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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. Characterization of the human RFX transcription factor family by regulatory and target gene analysis. (PMID: 29510665) Sugiaman-Trapman D … Swoboda P (BMC genomics 2018) 2 3
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. (PMID: 23518928) Liu M … Weinshilboum RM (Molecular endocrinology (Baltimore, Md.) 2013) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for RFX8 Gene

Sources for RFX8 Gene