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RFXANK Gene

protein-coding   GIFtS: 61
GCID: GC19P019303

Regulatory Factor X-Associated Ankyrin-Containing Protein

  See RFXANK-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)
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Aliases
Regulatory Factor X-Associated Ankyrin-Containing Protein1 2 3     ANKRA12 3
Regulatory Factor X Subunit B1 2 3     RFX-B2 3
RFX-Bdelta41 2     BLS2
Ankyrin Repeat-Containing Regulatory Factor X-Associated Protein1 2     F14150_12
DNA-Binding Protein RFXANK1 2     RFXB3
Ankyrin Repeat Family A Protein 12 3     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RFXANK Gene:
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. Multiple
alternatively spliced transcript variants encoding different isoforms have been described for this gene.
(provided by RefSeq, Jul 2013)

GeneCards Summary for RFXANK Gene:
RFXANK (regulatory factor X-associated ankyrin-containing protein) is a protein-coding gene. Diseases associated with RFXANK include mhc class ii deficiency, complementation group b, and bare lymphocyte syndrome, type ii, complementation group c. GO annotations related to this gene include transcription cofactor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ANKEF1.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for RFXANK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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

Explore proteomics data for RFXANK at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys155, Lys204
  • Modification sites at PhosphoSitePlus

  • See RFXANK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001265656.1  NP_001265657.1  NP_003712.1  NP_604389.1  

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

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    antibodies-online proteins for RFXANK (5 products) 

     
    antibodies-online peptides for RFXANK

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    3 InterPro protein domains:
     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 domain: 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


    Find genes that share domains with RFXANK           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    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--
         
    Find genes that share ontologies with RFXANK           About GenesLikeMe


    Animal Models:
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    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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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RFXK_HUMAN, O14593: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    plasma membrane2
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0045171intercellular bridge IDA--

    Find genes that share ontologies with RFXANK           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RFXANK About    
    See pathways by source

    SuperPathContained pathways About
    1Allograft rejection
    Antigen processing and presentation0.36
    2Tuberculosis
    Tuberculosis
    3Signaling events mediated by HDAC Class II
    Signaling events mediated by HDAC Class II
    4Primary immunodeficiency
    Primary immunodeficiency
    5EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway


    Find genes that share SuperPaths with RFXANK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RFXANK
    Interactions:

        GeneGlobe Interaction Network for RFXANK

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

    Selected Interacting proteins for RFXANK (O145933 ENSP000003050714) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206440Q9UBC13I2D: score=2 
    ENSG00000227565Q9UBC13I2D: score=2 
    ENSG00000234530Q9UBC13I2D: score=2 
    ENSG00000235125Q9UBC13I2D: score=2 
    ENSG00000236196Q9UBC13I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0007265Ras protein signal transduction IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--

    Find genes that share ontologies with RFXANK           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RFXANK (RFXK)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RFXANK gene (4 alternative transcripts): 
    NM_001278727.1  NM_001278728.1  NM_003721.3  NM_134440.2  

    Unigene Cluster for RFXANK:

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

    miRNA
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    7 qRT-PCR 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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      QuantiFast Probe-based Assays in human, mouse, rat RFXANK

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 200):

    NM_134440 BI906289 BM472689 BX101932 BI335571 AA359562 BQ933456 BM760298 
    AF105427 BM842598 AW009837 BF971132 BG754629 BM789586 BQ420862 AF094760 
    BQ673359 BM712354 BM705273 BQ065106 BE549468 BE902719 AF105428 BE513561 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RFXANK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCTTACCC
    RFXANK Expression
    About this image


    RFXANK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Lymph (Hematopoietic System)
    RFXANK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RFXANK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.296776

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

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    In Situ
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RFXANK gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rfxank1 , 5 regulatory factor X-associated ankyrin-containing protein1, 5 83.01(n)1
    85.33(a)1
      8 (34.15 cM)5
    197271  NM_001025589.11  NP_001020760.11 
     701308125 
    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 65.21(n)
    71.58(a)
      100170804  NM_001130641.1  NP_001124113.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58461 CG5846 49.07(n)
    36.67(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)
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    Paralogs for RFXANK gene
    ANKEF12  ANKRA22  
    5 SIMAP similar genes for RFXANK using alignment to 9 protein entries:     RFXK_HUMAN (see all proteins):
    ANKRA2    FEM1B    ANKRD42    DKFZp761E1322    MTPN

    Find genes that share paralogs with RFXANK           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RFXANK (see all 278)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0099414
    Bare lymphocyte syndrome 2 (BLS2)4--see VAR_0099412 L P mis40--------
    rs1048947091,2
    Cpathogenic119241671(+) GCCAGA/TCGAGC 4 D V mis10--------
    rs1439643191,2
    Cuntested119243354(+) GATACC/TGGAAA 4 R W mis11Minor allele frequency- T:0.00NA 4528
    rs1840735341,2
    --19234476(+) TGACTA/GCTCAG 2 -- us2k10--------
    rs1884073061,2
    --19234497(+) CCAGGA/CGTGTC 2 -- us2k10--------
    rs37610811,2
    C,F,H--19234506(-) TGACTC/TCCAGA 2 -- us2k1 tfbs326Minor allele frequency- T:0.11NA EA NS 2572
    rs729971951,2
    C--19234552(+) GTGCCT/CTGAGT 2 -- us2k12Minor allele frequency- C:0.05NA 122
    rs784544761,2
    C,F--19234616(+) TCCTCG/ACTTTG 2 -- us2k12Minor allele frequency- A:0.03NA EA 240
    rs1431000771,2
    --19234733(+) ACCAAC/TGTGGA 2 -- us2k10--------
    rs37610801,2
    C--19234809(-) CTCCCG/AAATAG 2 -- us2k11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for RFXANK (19303008 - 19312678 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RFXANK:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911304CNV Loss21882294
    nsv833779CNV Loss17160897
    nsv911305CNV Loss21882294
    nsv911303CNV Loss21882294

    Human Gene Mutation Database (HGMD): RFXANK
    Locus Specific Mutation Databases (LSDB): RFXANK

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 603200   
    OMIM disorders: 209920  
    UniProtKB/Swiss-Prot: RFXK_HUMAN, O14593
  • Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]: 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for RFXANK:    
    About MalaCards
    mhc class ii deficiency, complementation group b    bare lymphocyte syndrome, type ii, complementation group c    mhc class ii deficiency    bare lymphocyte syndrome, type ii, complementation group e
    bare lymphocyte syndrome, type ii, complementation group a    bare lymphocyte syndrome, type ii, complementation group d    bare lymphocyte syndrome

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

    Find genes that share disorders with RFXANK           About GenesLikeMe

    3 Novoseek inferred 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)

    Genetic Association Database (GAD): RFXANK

    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)
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    PubMed articles for RFXANK gene, integrated from 10 sources (see all 45):
    (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. (Nat. Genet. 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. (Immunity 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. (J. Immunol. 2000)
    4. Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock. (PubMed id 22649097)1, 2 Xu C.... Min J. (Sci. Signal. 2012)
    5. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 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. (Genome Res. 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. (Immunogenetics 2003)
    8. RFX-B, a MHC class II transcription factor, suppressed in human colorectal adenocarcinomas. (PubMed id 11836625)1, 9 Dimberg J....SirsjAP A. (Int. J. Mol. Med. 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. (J. Biol. Chem. 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. (Biochim. Biophys. Acta 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 8625 HGNC: 9987 AceView: RFXANK Ensembl:ENSG00000064490 euGenes: HUgn8625
    ECgene: RFXANK Kegg: 8625 H-InvDB: RFXANK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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