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

RFX3 Gene

protein-coding   GIFtS: 55
GCID: GC09M003214

Regulatory Factor X, 3 (Influences HLA Class II Expression)

  See related diseases
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
Regulatory Factor X, 3 (Influences HLA Class II Expression)1 2
DNA Binding Protein RFX32
Transcription Factor RFX32
Regulatory Factor X 33

External Ids:    HGNC: 99841   Entrez Gene: 59912   Ensembl: ENSG000000802987   OMIM: 6013375   UniProtKB: P483803   

Export aliases for RFX3 gene to outside databases

Previous GC identifers: GC09M003378 GC09M003205


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

Entrez Gene summary for RFX3 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, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a
heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been
described for this gene. (provided by RefSeq, Aug 2013)

GeneCards Summary for RFX3 Gene: 
RFX3 (regulatory factor X, 3 (influences HLA class II expression)) is a protein-coding gene. Diseases associated with RFX3 include chordoid glioma, and pineoblastoma. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is RFX6.

UniProtKB/Swiss-Prot: RFX3_HUMAN, P48380
Function: Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas
development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during
embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile
cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in
ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By
similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during
endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates
transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of
target genes. Acts as a transcription factor. Represses transcription of MAP1A in non-neuronal cells but not in
neuronal cells

Gene Wiki entry for RFX3 Gene


(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_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RFX3 gene promoter:
         E2F-4   E2F-3a   E2F-5   FOXD3   Nkx2-5   E2F-2   C/EBPalpha   AREB6   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRFX3 promoter sequence
   Search SABiosciences Chromatin IP Primers for RFX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RFX3


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

Entrez Gene cytogenetic band: 9p24.2   Ensembl cytogenetic band:  9p24.2   HGNC cytogenetic band: 9p24.2

RFX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFX3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M003214:  view genomic region     (about GC identifiers)

Start:
3,218,297 bp from pter      End:
3,526,004 bp from pter
Size:
307,708 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: RFX3_HUMAN, P48380 (See protein sequence)
Recommended Name: Transcription factor RFX3  
Size: 749 amino acids; 83530 Da
Subcellular location: Nucleus (Probable)
Secondary accessions: A8K0H5 D3DRH8 D3DRH9 Q5JTL7 Q5JTL8 Q6NW13 Q8WTU4 Q95HL5 Q95HL6
Alternative splicing: 3 isoforms:  P48380-1   P48380-2   P48380-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RFX3: NX_P48380

Explore proteomics data for RFX3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48380

  • RFX3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RFX3 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001269045.1  NP_001269046.1  NP_002910.1  NP_602304.1  

    ENSEMBL proteins: 
     ENSP00000371434   ENSP00000351574   ENSP00000415594   ENSP00000400026   ENSP00000405664  
     ENSP00000411756   ENSP00000410988   ENSP00000416189   ENSP00000399352   ENSP00000371414  
     ENSP00000303847  

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    Cloud-Clone Corp. Proteins for RFX3 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA--
    GO:0005634nucleus IC12411430
    GO:0005667transcription factor complex IC--

    RFX3 for ontologies           About GeneDecksing



    RFX3 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR003150 DNA-bd_RFX
     IPR007668 RFX1_trans_act

    Graphical View of Domain Structure for InterPro Entry P48380

    ProtoNet protein and cluster: P48380

    2 Blocks protein domains:
    IPB003150 DNA-binding RFX
    IPB007668 RFX1 transcription activation region


    UniProtKB/Swiss-Prot: RFX3_HUMAN, P48380
    Similarity: Belongs to the RFX family
    Similarity: Contains 1 RFX-type winged-helix DNA-binding domain


    RFX3 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: RFX3_HUMAN, P48380
    Function: Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas
    development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during
    embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile
    cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in
    ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By
    similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during
    endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates
    transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of
    target genes. Acts as a transcription factor. Represses transcription of MAP1A in non-neuronal cells but not in
    neuronal cells

         Genatlas biochemistry entry for RFX3:
    transactivating DNA binding regulator 3,involved in MHC class II expression,binding the MHC promoter box X

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS8600444
    GO:0003700sequence-specific DNA binding transcription factor activity NAS8600444
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity TAS8289803
    GO:0005515protein binding IPI--
    GO:0044212transcription regulatory region DNA binding IDA--
         
    RFX3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RFX3:
     Increased S DNA content 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rfx3):
     cardiovascular system  embryogenesis  growth/size  mortality/aging  normal 

    RFX3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RFX3: Rfx3tm2.1Wrth Rfx3tm1.1Wrth

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RFX3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RFX3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RFX3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RFX3 

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate RFX3:
    hsa-miR-519c-3p hsa-miR-519a hsa-miR-132 hsa-miR-519b-3p hsa-miR-1248 hsa-miR-212 hsa-miR-3145-3p hsa-miR-660
    SwitchGear 3'UTR luciferase reporter plasmidRFX3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): RFX3 (NM_134428)
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                         Customized lentivirus expression plasmids for stable overexpression of RFX3 

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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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RFX3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/14 Interacting proteins for RFX3 (P483803 ENSP000003714344) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RFX4Q33E943, ENSP000003765854I2D: score=2 STRING: ENSP00000376585
    BIN1O004993, ENSP000003167794I2D: score=1 STRING: ENSP00000316779
    RFX1P226703, ENSP000002543254I2D: score=1 STRING: ENSP00000254325
    TRAF2Q129333, ENSP000002476684I2D: score=4 STRING: ENSP00000247668
    CREB1P162203, ENSP000003876994I2D: score=1 STRING: ENSP00000387699
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ISS--
    GO:0007368determination of left/right symmetry ----
    GO:0031018endocrine pancreas development ISS--
    GO:0042384cilium assembly ISS--

    RFX3 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 RFX3

    Search CenterWatch for drugs/clinical trials and news about RFX3

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 RFX3 gene (4 alternative transcripts): 
    NM_001282116.1  NM_001282117.1  NM_002919.3  NM_134428.2  

    Unigene Cluster for RFX3:

    Regulatory factor X, 3 (influences HLA class II expression)
    Hs.136829  [show with all ESTs]
    Unigene Representative Sequence: NM_002919
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382004(uc003zhr.3 uc010mhd.3) ENST00000358730(uc003zht.1)
    ENST00000449234 ENST00000458034 ENST00000457373 ENST00000451859 ENST00000442560
    ENST00000420720 ENST00000449190 ENST00000381984 ENST00000302303(uc003zhs.1 uc010mhe.1)

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate RFX3:
    hsa-miR-519c-3p hsa-miR-519a hsa-miR-132 hsa-miR-519b-3p hsa-miR-1248 hsa-miR-212 hsa-miR-3145-3p hsa-miR-660
    SwitchGear 3'UTR luciferase reporter plasmidRFX3 3' UTR sequence
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFX3

    Additional mRNA sequence: 

    AK289540.1 AK310956.1 BC022191.2 BC067778.1 X76092.1 

    11 DOTS entries:

    DT.405956  DT.441382  DT.121155249  DT.97805153  DT.95258766  DT.100717152  DT.75151345  DT.91735037 
    DT.121155239  DT.429875  DT.92418869 

    24/52 AceView cDNA sequences (see all 52):

    AI811824 NM_002919 NM_134428 BC022191 AA400681 BG192311 BG196912 BM543944 
    AI393332 X76092 BX350180 AA400596 BG196913 H97074 AW027236 AL712767 
    AI082685 BX350179 BC067778 AI017287 BM560161 BQ721202 AW440804 BX092344 

    GeneLoc Exon Structure


    (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

    RFX3 expression in normal human tissues (normalized intensities)      RFX3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RFX3 Expression
    About this image


    RFX3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             testis ; cells in seminiferus ducts   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Epithelium (Uncategorized)    fully expand to see all 2 entries
             esophagus ; squamous epithelial cells   

    See RFX3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RFX3

    SOURCE GeneReport for Unigene cluster: Hs.136829
        SABiosciences Custom PCR Arrays for RFX3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFX3

    (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 RFX3 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rfx31 , 5 regulatory factor X, 3 (influences HLA class II expression)1, 5 92.48(n)1
    98.93(a)1
      19 (22.36 cM)5
    197261  NM_001166414.11  NP_001159886.11 
     277664415 
    chicken
    (Gallus gallus)
    Aves RFX31 regulatory factor X, 3 (influences HLA class II expression) 88.87(n)
    96.4(a)
      427351  XM_003642990.1  XP_003643038.1 
    lizard
    (Anolis carolinensis)
    Reptilia RFX36
    regulatory factor X, 3 (influences HLA class II ex...
    96(a)
    1 ↔ 1
    2(51368864-51523468)
    zebrafish
    (Danio rerio)
    Actinopterygii rfx31 regulatory factor X, 3 (influences HLA class II expression) 70.72(n)
    77.46(a)
      570989  NM_001080048.1  NP_001073517.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rfx1 , 3 RNA polymerase II transcription factor3
    CG6312-PA1
    55(a)3
    52.08(n)1
    51.41(a)1
      412661  NM_141742.21  NP_649999.21 
    worm
    (Caenorhabditis elegans)
    Secernentea daf-196
    RFX-like transcription factor daf-19
    27(a)
    1 → many
    II(10157537-10169321)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RFX16
    Major transcriptional repressor of DNA-damage-regu...
    12(a)
    1 → many
    XII(507797-510232)


    ENSEMBL Gene Tree for RFX3 (if available)
    TreeFam Gene Tree for RFX3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RFX3 gene
    RFX62  RFX12  RFX82  RFX42  RFX22  
    3 SIMAP similar genes for RFX3 using alignment to 9 protein entries:     RFX3_HUMAN (see all proteins):
    RFX1    RFX2    RFX4

    RFX3 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

    10/6925 SNPs in RFX3 are shown (see all 6925)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs669520891,2
    C,F--3187095(-) CTTGT-/CTTGCTT
    GC
    /T/TTGC
    TTGCT
    2 -- int1 cds12NA 4
    rs1137406711,2
    F--3224295(+) GGAATG/TGGTAT 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs8322971,2
    C,F,A,H--3224443(+) GCTCAA/TTTTTT 1 -- ds5001 trp328Minor allele frequency- T:0.18NA EA NS WA CSA 2742
    rs5748771,2
    C,F,A,H--3224519(+) TCTCCG/ATACTC 1 -- ds5001 ese332Minor allele frequency- A:0.12NS EA NA WA CSA 2240
    rs1909978471,2
    --3224622(+) CTCCAA/GTGTAA 1 -- ds50010--------
    rs1385109421,2
    --3224630(+) TAAATC/TAAAAA 1 -- ds50010--------
    rs1821476091,2
    --3224707(+) CAAGAC/TTAACA 1 -- ut310--------
    rs176585251,2
    C,F,H--3224828(+) AAGGGA/CAAAAA 1 -- ut31 trp312Minor allele frequency- C:0.02NA NS EA 1098
    rs1861172161,2
    --3224865(+) TTTACA/GTTAAA 1 -- ut310--------
    rs1995954131,2
    --3224995(+) GCCCAA/GTATCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RFX3 (3218297 - 3468297 bp, first 250kb of RFX3)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for RFX3 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659402CNV Deletion23128226
    esv2477708CNV Deletion19546169
    nsv416089CNV Insertion16902084
    nsv415859CNV Insertion16902084
    esv1255308CNV Insertion17803354
    nsv892091CNV Loss21882294
    nsv892090CNV Loss21882294
    nsv466091CNV Loss19166990
    nsv522711CNV Gain19592680
    nsv892086CNV Gain21882294

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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
    OMIM gene information: 601337    OMIM disorders: --

    8 diseases for RFX3:    About MalaCards
    chordoid glioma    pineoblastoma    primary ciliary dyskinesia    situs inversus
    hepatitis b    hepatitis    pancreatitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for RFX3:
    Chordoid glioma     Pineoblastoma

    RFX3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RFX3
    Human Genome Epidemiology (HuGE) Navigator: RFX3 (1 document)

    Export disorders for RFX3 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 RFX3 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with RFX3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins. (PubMed id 8289803)1, 2, 3 Reith W.... Mach B. (1994)
    2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Role for RFX transcription factors in non-neuronal cell-specific inactivation of the microtubule-associated protein MAP1A promoter. (PubMed id 12411430)1, 2 Nakayama A.... Takahashi M. (2003)
    5. Human regulatory factor X 4 (RFX4) is a testis-specific dimeric DNA-binding protein that cooperates with other human RFX members. (PubMed id 11682486)1, 9 Morotomi-Yano K....Miki Y. (2002)
    6. Ciliogenic RFX transcription factors regulate FGF1 gen e promoter. (PubMed id 22415835)1 Hsu Y.C....Chiu I.M. (2012)
    7. Sox2 cooperates with Chd7 to regulate genes that are m utated in human syndromes. (PubMed id 21532573)1 Engelen E....Poot R.A. (2011)
    8. Rfx6 directs islet formation and insulin production in mice and humans. (PubMed id 20148032)2 Smith S.B.... German M.S. (2010)
    9. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
    10. RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopath ies. (PubMed id 19671664)1 El Zein L....Durand B. (2009)

    (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: 5991 HGNC: 9984 AceView: RFX3 Ensembl:ENSG00000080298 euGenes: HUgn5991
    ECgene: RFX3 H-InvDB: RFX3

    (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 RFX3 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 RFX3 gene:
    Search GeneIP for patents involving RFX3

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



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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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