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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RFX8 Gene

protein-coding   GIFtS: 36
GCID: GC02M102013

RFX Family Member 8, Lacking RFX DNA Binding Domain

(Previous names: regulatory factor X, 8, RFX gene family member 8, lacking...)
  Search for RFX8
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
RFX Family Member 8, Lacking RFX DNA Binding Domain1 2
Regulatory Factor X, 81 2
RFX Gene Family Member 8, Lacking RFX DNA Binding Domain1 2
DNA-Binding Protein RFX82
Regulatory Factor X 83

External Ids:    HGNC: 372531   Entrez Gene: 7312202   Ensembl: ENSG000001964607   UniProtKB: Q6ZV503   

Export aliases for RFX8 gene to outside databases

Previous GC identifers: GC02M101394 GC02M095777


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for RFX8 Gene: 
RFX8 (RFX family member 8, lacking RFX DNA binding domain) is a protein-coding gene. GO annotations related to this gene include DNA binding. An important paralog of this gene is RFX6.

UniProtKB/Swiss-Prot: RFX8_HUMAN, Q6ZV50
Function: May be a transcription factor (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022171.15  NC_018913.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for RFX8
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RFX8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RFX8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q11.2   Ensembl cytogenetic band:  2q11.2   HGNC cytogenetic band: 2q11.2

RFX8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFX8 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M102013:  view genomic region     (about GC identifiers)

Start:
102,013,823 bp from pter      End:
102,091,165 bp from pter
Size:
77,343 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RFX8_HUMAN, Q6ZV50 (See protein sequence)
Recommended Name: DNA-binding protein RFX8  
Size: 586 amino acids; 66266 Da
Subcellular location: Nucleus (By similarity)
Secondary accessions: B4DQ32
Alternative splicing: 3 isoforms:  Q6ZV50-1   Q6ZV50-2   Q6ZV50-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for RFX8: NX_Q6ZV50

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6ZV50

  • RFX8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_001139136.1  
    ENSEMBL proteins: 
     ENSP00000422968   ENSP00000401536   ENSP00000424661   ENSP00000366022  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    RFX8 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR003150 DNA-bd_RFX

    Graphical View of Domain Structure for InterPro Entry Q6ZV50

    ProtoNet protein and cluster: Q6ZV50

    UniProtKB/Swiss-Prot: RFX8_HUMAN, Q6ZV50
    Similarity: Belongs to the RFX family
    Similarity: Contains 1 RFX-type winged-helix DNA-binding domain


    RFX8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RFX8_HUMAN, Q6ZV50
    Function: May be a transcription factor (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
         
    RFX8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RFX8:
     Cells with protrusions 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RFX8

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--

    RFX8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RFX8

    Search CenterWatch for drugs/clinical trials and news about RFX8

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RFX8 gene (2 alternative transcripts): 
    NM_207403.1  NM_001145664.1  

    Unigene Cluster for RFX8:

    RFX family member 8, lacking RFX DNA binding domain
    Hs.662488  [show with all ESTs]
    Unigene Representative Sequence: NM_001145664
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000481179(uc002tbb.1) ENST00000428343(uc010yvx.1) ENST00000492238
    ENST00000484091 ENST00000376826
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate RFX8:
    hsa-miR-515-5p hsa-miR-519e*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RFX8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFX8
    Clone
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    OriGene ORF clones in mouse, rat for RFX8
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                         Customized lentivirus expression plasmids for stable overexpression of RFX8 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RFX8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFX8

    Additional mRNA sequence: AK298610.1 

    4 DOTS entries:

    DT.92031802  DT.91652308  DT.40120676  DT.102822018 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for RFX8    About this scheme

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


    ECgene alternative splicing isoforms for RFX8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RFX8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCCTCAGGA
    RFX8 Expression
    About this image


    SOURCE GeneReport for Unigene cluster: Hs.662488
        SABiosciences Custom PCR Arrays for RFX8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFX8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for RFX8 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rfx81 , 5 regulatory factor X 81, 5 76.23(n)1
    70.71(a)1
      1 (18.41 cM)5
    6192891  NM_001145660.11  NP_001139132.11 
     396653065 
    chicken
    (Gallus gallus)
    Aves RFX86
    RFX family member 8, lacking RFX DNA binding domai...
    37(a)
    1 ↔ 1
    1(132861202-132895021)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RFX16
    Major transcriptional repressor of DNA-damage-regu...
    6(a)
    1 → many
    XII(507797-510232)


    ENSEMBL Gene Tree for RFX8 (if available)
    TreeFam Gene Tree for RFX8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RFX8 gene
    RFX62  RFX12  RFX32  RFX42  RFX22  
    3 SIMAP similar genes for RFX8 using alignment to 3 protein entries:     RFX8_HUMAN (see all proteins):
    RFX2    RFX4    RFX7

    RFX8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1724 SNPs in RFX8 are shown (see all 1724)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs783368741,2
    C--102013422(+) AAAAGA/TGAACT 1 -- ds50010--------
    rs795384931,2
    C--102013423(+) AAAGAC/GAACTA 1 -- ds50010--------
    rs1928083651,2
    C--102013539(+) CAGTGA/GATGAG 1 -- ds50010--------
    rs1401236901,2
    --102013621(+) TTCGAC/TTGAGG 1 -- ds50010--------
    rs1846567731,2
    --102013632(+) CACCAC/GCAAGG 1 -- ds50010--------
    rs75711671,2
    C,F,H--102013725(+) CATTTC/ATTTAC 1 -- ds500117Minor allele frequency- A:0.01NS EA NA WA CSA 798
    rs1153622091,2
    C,F--102013763(+) TCTGCC/TATGTC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1153339121,2
    C,F--102013928(+) CTTTCG/ATCAAT 1 -- ut311Minor allele frequency- A:0.02NA 120
    rs1469367671,2
    --102013933(+) GTCAAC/TAGAAA 1 -- ut310--------
    rs1899716381,2
    --102013943(+) AAACTA/TTAGTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RFX8 (102013823 - 102091165 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RFX8:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2660414CNV Deletion23128226
    esv2720448CNV Deletion23290073
    nsv524940CNV Loss19592680
    esv22386CNV Gain19812545


    Human Gene Mutation Database (HGMD): RFX8
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RFX8 for disorders           About MalaCards

    RFX8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RFX8

    Export disorders for RFX8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RFX8 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RFX8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. TSPYL5 SNPs: association with plasma estradiol concent rations and aromatase expression. (PubMed id 23518928)1 Liu M....Weinshilboum R.M. (2013)
    4. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (2007)
    5. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)4 Levy D....Mitchell G.F. (2007)
    6. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    7. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 731220 HGNC: 37253 Ensembl:ENSG00000196460 euGenes: HUgn731220 ECgene: RFX8
    H-InvDB: RFX8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RFX8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RFX8 gene:
    Search GeneIP for patents involving RFX8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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