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

RFXANK Gene

protein-coding   GIFtS: 56
GCID: GC19P019303

regulatory factor X-associated ankyrin-containing protein

 Explore 11 diseases affiliated with
RFXANK via our new
 Human Malady Compendium 
Biological research products
for RFXANK
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Regulatory Factor X-Associated Ankyrin-Containing Protein1 2 3     Regulatory Factor X Subunit B2 3
ANKRA11 2 3     MGC1386281
RFX-B1 2 3     RFX-Bdelta42
BLS1 2     Ankyrin Repeat-Containing Regulatory Factor X-Associated Protein2
F14150_11 2     DNA-Binding Protein RFXANK2
Ankyrin Repeat Family A Protein 12 3     RFXB3

External Ids:    HGNC: 99871   Entrez Gene: 86252   Ensembl: ENSG000000644907   OMIM: 6032005   UniProtKB: O145933   

Export aliases for RFXANK gene to outside databases

Previous GC identifers: GC19P019797 GC19P019694 GC19P019148 GC19P019164 GC19P018866


(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 RFXANK:
Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development
and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein
and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and
activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC
class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression.
This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been
linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different
isoforms have been described for this gene, with only one isoform showing activation activity. (provided by RefSeq,
Jul 2008)

UniProtKB/Swiss-Prot: RFXK_HUMAN, O14593
Function: Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II
transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform
RFX-B-delta5 is not involved in the positive regulation of MHC class II genes

Gene Wiki entry for RFXANK


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RFXANK gene promoter:
         SRF   SREBP-1c   SRF (504 AA)   MIF-1   SREBP-1b   c-Ets-1   Roaz   AREB6   CREB   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RFXANK promoter sequence
   Search SABiosciences Chromatin IP Primers for RFXANK

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


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

Entrez Gene cytogenetic band: 19p12   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p12

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P019303:  view genomic region     (about GC identifiers)

Start:
19,303,008 bp from pter      End:
19,312,678 bp from pter
Size:
9,671 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RFXK_HUMAN, O14593 (See protein sequence)
Recommended Name: DNA-binding protein RFXANK  
Size: 260 amino acids; 28102 Da
Subunit: The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP and RFX-B/RFXANK; with
each subunit representing a separate complementation group. RFX forms cooperative DNA binding complexes with X2BP and
CBF/NF-Y. RFX associates with MHC2TA to form an active transcriptional complex
Subcellular location: Nucleus
2 PDB 3D structures from and Proteopedia for RFXANK:
3UXG (3D)        3V30 (3D)    
Secondary accessions: O95839 Q6FGA8
Alternative splicing: 2 isoforms:  O14593-1   O14593-2   

Explore the universe of human proteins at neXtProt for RFXANK: NX_O14593

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14593

  • RFXANK Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_003712.1  NP_604389.1  

    ENSEMBL proteins: 
     ENSP00000393159   ENSP00000409138   ENSP00000305071   ENSP00000466913   ENSP00000384572  
     ENSP00000439581   ENSP00000440325   ENSP00000376138   ENSP00000444280   ENSP00000441042  
     ENSP00000440321   ENSP00000262804  

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    Novus Biologicals RFXANK Proteins
    Novus Biologicals RFXANK Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RFXANK

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--


    RFXANK for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RFXANK for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR017362 DNA-bd_RFXANK
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry O14593

    ProtoNet protein and cluster: O14593

    1 Blocks protein family: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: RFXK_HUMAN, O14593
    Domain: The third ankyrin repeat is required for association with the two other RFX subunits; RFX5 and RFXAP. The three
    central ANK repeats mediate binding to the PxLPxI/L motif of RFX5
    Similarity: Contains 5 ANK repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RFXK_HUMAN, O14593
    Function: Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II
    transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform
    RFX-B-delta5 is not involved in the positive regulation of MHC class II genes

         Genatlas biochemistry entry for RFXANK:
    transactivating DNA binding regulator,28kDa,component of the RFX complex,involved in MHC class II expression

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFXANK
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate RFXANK:
    hsa-miR-22 hsa-miR-659 hsa-miR-125a-5p hsa-miR-670 hsa-miR-125b hsa-miR-218-1* hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidRFXANK 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS9806546
    GO:0003712transcription cofactor activity TAS10072068
    GO:0005515protein binding ----
    GO:0042826histone deacetylase binding IEA--


    RFXANK for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway1.00
    2Signaling events mediated by HDAC Class II
    Signaling events mediated by HDAC Class II1.00
    3Tuberculosis
    Tuberculosis1.00
    4Primary immunodeficiency
    Primary immunodeficiency1.00
    5Allograft rejection
    Antigen processing and presentation0.25

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for RFXANK 
        EGFR1 Signaling Pathway
    Signaling events mediated by HDAC Class II


    3         Kegg Pathways  (Kegg details for RFXANK):
        Antigen processing and presentation
    Tuberculosis
    Primary immunodeficiency


    RFXANK for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RFXANK

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/22 Interacting proteins for RFXANK (O145933 ENSP000003050714) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RFX5P483823I2D: score=3 
    BSGP356133I2D: score=2 
    C20orf24Q9BUV83I2D: score=2 
    CIITAP330763I2D: score=2 
    DCTN1Q142033I2D: score=2 
    About this table

    Gene Ontology (GO): 4 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 ----
    GO:0007265Ras protein signal transduction IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--


    RFXANK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 RFXANK
    Search CenterWatch for drugs/clinical trials and news about RFXANK / RFXK 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RFXANK gene (2 alternative transcripts): 
    NM_003721.2  NM_134440.1  

    Unigene Cluster for RFXANK:

    Regulatory factor X-associated ankyrin-containing protein
    Hs.296776  [show with all ESTs]
    Unigene Representative Sequence: BM455790
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000421262 ENST00000456252 ENST00000303088(uc002nls.3 uc002nlv.3 uc021uqt.1)
    ENST00000593273 ENST00000407360 ENST00000543652 ENST00000540981 ENST00000543157
    ENST00000392324 ENST00000541873 ENST00000545522 ENST00000535017 ENST00000543118
    ENST00000540977 ENST00000544923 ENST00000536253 ENST00000353145(uc002nlt.3 uc002nlu.3)


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFXANK
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate RFXANK:
    hsa-miR-22 hsa-miR-659 hsa-miR-125a-5p hsa-miR-670 hsa-miR-125b hsa-miR-218-1* hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidRFXANK 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RFXANK (see all 7)
    OriGene shRNA RFP: RFXANK
    OriGene siRNA: RFXANK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFXANK
    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): RFXANK (NM_003721)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFXANK 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RFXANK
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFXANK

    Additional cDNA sequence: 

    AF077196.1 AF094760.1 AF105427.1 AF105428.1 BC114558.1 BC114563.1 CR456981.1 CR542199.1 
    X75690.1 

    15 DOTS entries:

    DT.448293  DT.95207353  DT.91761232  DT.100799618  DT.97809250  DT.100736162  DT.121479121  DT.100799613 
    DT.121479124  DT.91883237  DT.102833957  DT.40116606  DT.95207352  DT.100668792  DT.95207373 

    24/200 AceView cDNA sequences (see all 200):

    BQ427991 BM842598 CB990836 BQ065106 AW009837 CF126293 BE549468 BM472689 
    BI335571 BG741123 BQ054229 AF094760 BE513561 BM789586 BE397018 BM805763 
    BI906289 CR542199 BU736837 AA359562 BE388797 BM760298 NM_003721 T35325 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for RFXANK (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11
    SP1:                    -     -     -     -                                   -                                                   
    SP2:                                                                    -     -                                                   
    SP3:                                                                          -                                                   
    SP4:                                                                          -                                                   
    SP5:                                                                          -                                                   


    ECgene alternative splicing isoforms for RFXANK

    (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

    RFXANK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGCTTACCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RFXANK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RFXANK

    SOURCE GeneReport for Unigene cluster: Hs.296776

    UniProtKB/Swiss-Prot: RFXK_HUMAN, O14593
    Tissue specificity: Ubiquitous

        SABiosciences Custom PCR Arrays for RFXANK
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFXANK

    (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.

    Orthologs for RFXANK gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RFXANK1 regulatory factor X-associated ankyrin-containing protein 79.03(n)
    91.4(a)
      426623  NM_001031389.1  NP_001026560.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.73502 Transcribed sequence with moderate similarity to protein more 75.05(n)    AL847541.2 
    zebrafish
    (Danio rerio)
    Actinopterygii rfxank1 regulatory factor X-associated ankyrin-containing protein 64.71(n)
    70.05(a)
      100170804  NM_001130641.1  NP_001124113.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58461 CG5846 50.38(n)
    38.07(a)
      34326  NM_135489.3  NP_609333.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RFXANK gene
    ANKRA22  
    9 SIMAP similar genes for RFXANK using alignment to 11 protein entries:     RFXK_HUMAN (see all proteins):
    ZNF554    TMX3    RBMS2    ANKRA2    FEM1B    RAI14
    DKFZp761E1322    MTPN    ANKRD42

    RFXANK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/143 NCBI SNPs in RFXANK are shown (see all 143    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048947091,2
    Cpathogenic19308354(+) GCCAGA/TCGAGC 4 D V mis10--------
    rs1439643191,2
    C,other19310037(+) GATACC/TGGAAA 4 R W mis11Minor allele frequency- T:0.00NA 4528
    rs789773301,2
    --19305427(+) CCTCAG/ACTTCC 2 -- int11Minor allele frequency- A:0.50NA 2
    rs1931130921,2
    --19305529(+) GGTCTC/TCACCT 2 -- int10--------
    rs1429580571,2
    --19305605(+) GTGCCC/TGGCCC 2 -- int10--------
    rs1408637481,2
    --19305846(+) CTCCG-/TTTTTT 2 -- int10--------
    rs1855672621,2
    --19305932(+) GCGCAA/GTCTTG 2 -- int10--------
    rs1501621111,2
    --19305940(+) TTGGC-/TCACTG 2 -- int10--------
    rs1884814291,2
    --19305955(+) CTCCAC/TCTCCC 2 -- int10--------
    rs1129235021,2
    C,--19305962(+) TCCCGG/TGTTCA 2 -- int11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for RFXANK (19303008 - 19312678 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RFXANK: --
    Human Gene Mutation Database (HGMD): RFXANK

    Locus Specific Mutation Databases (LSDB): RFXANK

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RFXANK for disorders           About GeneDecksing

    OMIM gene information: 603200   
    OMIM disorders: 209920  
    UniProtKB/Swiss-Prot: RFXK_HUMAN, O14593
  • Defects in RFXANK are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; also known as hereditary
  • MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is a severe combined
    immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and
    interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge,
    hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral,
    bacterial and fungal infections

    11 diseases for RFXANK:    About MalaCards
    mhc class ii deficiency, complementation group b    bare lymphocyte syndrome    mhc class ii deficiency    severe combined immunodeficiency
    graft versus host disease    combined immunodeficiency    burkitt's lymphoma    immunodeficiency
    tuberculosis    adenocarcinoma    acute graft versus host disease

    2 diseases from the University of Copenhagen DISEASES database for RFXANK:
    Lymphoma     Severe combined immunodeficiency

    3 Novoseek disease relationships for RFXANK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bare lymphocyte syndrome 95 3 10938133 (1), 15655668 (1), 10725724 (1)
    immunodeficiency 57.4 8 14574520 (3), 15655668 (1), 11836625 (1), 16848795 (1) (see all 6)
    severe combined immunodeficiency 47.9 1 10938133 (1)


    Export disorders for RFXANK 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 RFXANK gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with RFXANK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. (PubMed id 9806546)1, 2, 3, 9 Masternak K.... Reith W. (1998)
    2. RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. (PubMed id 10072068)1, 2, 3 Nagarajan U.M....Boss J.M. (1999)
    3. Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B- deficient cells. (PubMed id 10725724)1, 2, 9 Nagarajan U.M....van den Elsen P.J. (2000)
    4. Sequence-specific recognition of a PxLPxI/L motif by a n ankyrin repeat tumbler lock. (PubMed id 22649097)1, 2 Xu C....Min J. (2012)
    5. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    6. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    7. Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II. (PubMed id 12618906)1, 9 Wiszniewski W....Lisowska-Grospierre B. (2003)
    8. RFX-B, a MHC class II transcription factor, suppressed in human colorectal adenocarcinomas. (PubMed id 11836625)1, 9 Dimberg J....Sirsjo A. (2002)
    9. Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases. (PubMed id 15964851)1, 9 Wang A.H....Yang X.J. (2005)
    10. Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5. (PubMed id 18723135)1, 9 Garvie C.W. and Boss J.M. (2008)

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

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    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: 8625 HGNC: 9987 AceView: RFXANK Ensembl:ENSG00000064490 euGenes: HUgn8625
    ECgene: RFXANK Kegg: 8625 H-InvDB: RFXANK

    (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 RFXANK Pharmacogenomics, SNPs, Pathways
    RFXANKbasehttp://bioinf.uta.fi/RFXANKbase/

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

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



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     Regulatory tfbs in RFXANK promoter
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