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

CIITA Gene

protein-coding   GIFtS: 60
GCID: GC16P010879

Class II, Major Histocompatibility Complex, Transactivator

(Previous name: MHC class II transactivator)
(Previous symbol: MHC2TA)
Microbiology & Infectious Diseases Congress
  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
Class II, Major Histocompatibility Complex, Transactivator1 2     Nucleotide-Binding Oligomerization Domain1
MHC2TA1 2 3 5     CIITAIV2
MHC Class II Transactivator1 2     NLRA2
C2TA2 5     MHC Class II Transactivator Type III2
Acid Domain Containing1     NLR Family, Acid Domain Containing2
Leucine Rich Repeat And Acid Domain Containing1     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Acid
Domain Containing2
NLR Family1     

External Ids:    HGNC: 70671   Entrez Gene: 42612   Ensembl: ENSG000001795837   OMIM: 6000055   UniProtKB: P330763   

Export aliases for CIITA gene to outside databases


(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 CIITA Gene:
This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a
GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major
histocompatibility complex gene transcription, and is referred to as the 'master control factor' for the
expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into
the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT)
activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte
syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined
immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial
infarction. (provided by RefSeq, Jul 2008)

GeneCards Summary for CIITA Gene: 
CIITA (class II, major histocompatibility complex, transactivator) is a protein-coding gene. Diseases associated with CIITA include multiple sclerosis, and mhc class ii deficiency, and among its related super-pathways are Interferon Signaling and Adaptive Immune System. GO annotations related to this gene include transcription coactivator activity and protein C-terminus binding. An important paralog of this gene is NLRC5.

UniProtKB/Swiss-Prot: C2TA_HUMAN, P33076
Function: Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal
promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through
protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of
the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying
proteins that bind to the MHC class II promoter

Gene Wiki entry for CIITA 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_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CIITA gene promoter:
         TBP   CREB   C/EBPbeta   IRF-2   NRSF form 1   deltaCREB   NRSF form 2   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 16p13   Ensembl cytogenetic band:  16p13.13   HGNC cytogenetic band: 16p13

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P010879:  view genomic region     (about GC identifiers)

Start:
10,971,055 bp from pter      End:
11,026,079 bp from pter
Size:
55,025 bases      Orientation:
plus 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: C2TA_HUMAN, P33076 (See protein sequence)
Recommended Name: MHC class II transactivator  
Size: 1130 amino acids; 123514 Da
Subunit: Interacts with ZXDA and ZXDC. Interacts with PML (isoform PML-2)
Subcellular location: Nucleus. Nucleus, PML body. Note=Recruited to PML body by PML
Secondary accessions: D3DUG0

Explore the universe of human proteins at neXtProt for CIITA: NX_P33076

Explore proteomics data for CIITA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P33076

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

    CIITA Protein Expression
    REFSEQ proteins: NP_000237.2  
    ENSEMBL proteins: 
     ENSP00000316328   ENSP00000371257   ENSP00000459829   ENSP00000459608  
    Reactome Protein details: P33076
    Human Recombinant Protein Products for CIITA: 
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    Novus Biologicals CIITA Protein
    Novus Biologicals CIITA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CIITA 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0016605PML body IDA--

    CIITA for ontologies           About GeneDecksing



    CIITA Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for CIITA 

    Assay Products for CIITA: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CIITA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CIITA 
    Cloud-Clone Corp. CLIAs for CIITA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    NLR: Nucleotide-binding domain and leucine rich repeat containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: CIITA 
    NOD-like receptor family

    4 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR008095 MHC_II_transact
     IPR007111 NACHT_NTPase

    Graphical View of Domain Structure for InterPro Entry P33076

    ProtoNet protein and cluster: P33076

    2 Blocks protein domains:
    IPB000767 Disease resistance protein signature
    IPB008095 MHC class II transactivator signature


    UniProtKB/Swiss-Prot: C2TA_HUMAN, P33076
    Similarity: Contains 4 LRR (leucine-rich) repeats
    Similarity: Contains 1 NACHT domain


    CIITA 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: C2TA_HUMAN, P33076
    Function: Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal
    promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through
    protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of
    the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying
    proteins that bind to the MHC class II promoter

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677NOT DNA binding TAS15771576
    GO:0003713transcription coactivator activity TAS7749984
    GO:0005515protein binding IPI16600381
    GO:0005524ATP binding IEA--
    GO:0008022protein C-terminus binding IPI16600381
         
    CIITA for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Ciita):
     cellular  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  immune system 
     normal 

    CIITA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CIITA: Ciitatm1Ccum Ciitatm1Jpyt Ciitatm1Adm Ciitatm2Wrth Ciitatm1.1Dim Ciitatm1Wrth

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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CIITA
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate CIITA (see all 9):
    hsa-miR-142-3p hsa-miR-22 hsa-miR-3130-5p hsa-miR-3606 hsa-miR-4254 hsa-miR-148b hsa-miR-152 hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmidCIITA 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of CIITA 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIITA


    (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

    SuperPaths for CIITA About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.61
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.61
    2Immune System
    Immune System0.56
    3Allograft rejection
    Antigen processing and presentation0.37
    4Leishmaniasis
    Toxoplasmosis0.36
    5Influenza A
    Influenza A0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for CIITA
        Lymphocyte Signaling

    1 BioSystems Pathway for CIITA
        Type II interferon signaling (IFNG)

    4        Reactome Pathways for CIITA
        Interferon gamma signaling
    Cytokine Signaling in Immune system
    Interferon Signaling
    Immune System


    5         Kegg Pathways  (Kegg details for CIITA):
        Antigen processing and presentation
    Toxoplasmosis
    Tuberculosis
    Influenza A
    Primary immunodeficiency


    CIITA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CIITA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/76 Interacting proteins for CIITA (P330761, 3 ENSP000003163284) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZXDCQ2QGD71, 3, ENSP000003743594EBI-1538819,EBI-1538838 I2D: score=2 STRING: ENSP00000374359
    ZXDAP981681, 3, ENSP000003515304EBI-1538819,EBI-1538980 I2D: score=1 STRING: ENSP00000351530
    HDAC4P565243, ENSP000002646064I2D: score=3 STRING: ENSP00000264606
    RFX5P483823, ENSP000002905244I2D: score=3 STRING: ENSP00000290524
    NFYBP252083, ENSP000002400554I2D: score=2 STRING: ENSP00000240055
    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:0000122negative regulation of transcription from RNA polymerase II promoter IMP19041327
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006955immune response TAS8402893
    GO:0019221cytokine-mediated signaling pathway TAS--

    CIITA 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

    CIITA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CIITA (C2TA)

    10/56 Novoseek inferred chemical compound relationships for CIITA gene (see all 56)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    toxin-1 52.5 5 1460432 (1), 8940217 (1), 9191070 (1), 10721486 (1) (see all 5)
    enterotoxin 45.1 5 2377230 (1), 8258334 (1), 9191070 (1), 9500785 (1) (see all 5)
    glatiramer acetate 40.8 7 8965119 (1), 9117994 (1), 11739812 (1), 14732933 (1) (see all 5)
    mdms 26.4 1 15593014 (1)
    mannose 22.5 4 10950112 (1), 11529939 (1), 7629501 (1), 11062267 (1)
    phosphotyrosine 9.13 1 10428838 (1)
    polyinosinic-polycytidylic acid 8.82 1 16298971 (1)
    proline 8.5 9 9144488 (1), 9234682 (1), 13679389 (1), 9122224 (1) (see all 6)
    serine 7.32 24 13679389 (2), 17346795 (2), 9144488 (1), 17095509 (1) (see all 12)
    tyrosine 7.15 9 10480952 (1), 11163041 (1), 9013947 (1), 10735951 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about CIITA / C2TA

    (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 CIITA gene: 
    NM_000246.3  

    Unigene Cluster for CIITA:

    Class II, major histocompatibility complex, transactivator
    Hs.701991  [show with all ESTs]
    Unigene Representative Sequence: NM_000246
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324288(uc010bup.1 uc002dai.4 uc002daj.4 uc002dak.4)
    ENST00000381835 ENST00000570546(uc002dag.2 uc002dah.2) ENST00000573309
    ENST00000571186 ENST00000537380 ENST00000576601 ENST00000571190 ENST00000572665
    ENST00000575513 ENST00000571545
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate CIITA (see all 9):
    hsa-miR-142-3p hsa-miR-22 hsa-miR-3130-5p hsa-miR-3606 hsa-miR-4254 hsa-miR-148b hsa-miR-152 hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmidCIITA 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CIITA
    Sirion Biotech Customized lentivirus for stable overexpression of CIITA 
                         Customized lentivirus expression plasmids for stable overexpression of CIITA 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CIITA

    Additional mRNA sequence: 

    AY084054.1 AY084055.1 AY699071.1 U18288.1 U18302.1 U18303.1 U31931.1 X74301.1 

    12 DOTS entries:

    DT.456139  DT.100751122  DT.95253892  DT.101979941  DT.87015775  DT.120691413  DT.91751988  DT.92424634 
    DT.95083268  DT.97812957  DT.100751121  DT.95152422 

    24/101 AceView cDNA sequences (see all 101):

    AA721482 AA211835 AA287082 U18303 AA905448 AW451712 AI627287 BF767857 
    U18302 AI640166 AI701043 BM821199 BM476434 BF796865 CA309337 CF121798 
    AA251613 AA948561 AI005200 AW576396 BU430541 BM468873 CF142634 AY084055 

    GeneLoc Exon Structure

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

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^
    SP1:                                                              -     -                                                     -     -                           
    SP2:                    -                                         -     -     -     -     -     -                       -     -                                 
    SP3:                    -                                         -     -                                               -     -     -     -                     
    SP4:                    -                                         -     -     -     -     -     -                                                               
    SP5:                    -                                         -                                                                                             

    ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b
    SP1:        -                       -                           
    SP2:        -                       -                           
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for CIITA

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.701991
        SABiosciences Expression via Pathway-Focused PCR Arrays including CIITA: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Type I Interferon Response in human mouse rat
              Inflammasomes in human mouse rat

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    In Situ
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    (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 chordates.

    Orthologs for CIITA gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ciita1 , 5 class II transactivator1, 5 77.44(n)1
    74.57(a)1
      16 (5.65 cM)5
    122651  NM_001243760.11  NP_001230689.11 
     104881785 
    chicken
    (Gallus gallus)
    Aves CIITA6
    Uncharacterized protein
    47(a)
    1 ↔ 1
    14(9061602-9069704)
    lizard
    (Anolis carolinensis)
    Reptilia CIITA6
    --
    Uncharacterized protein
    32(a)
    19(a)
    1 ↔ 1
    possible ortholog
    GL343592.1(344775-370842)
    GL343281.1(870024-877915)
    zebrafish
    (Danio rerio)
    Actinopterygii ciita1 class II, major histocompatibility complex, transactivator 46.76(n)
    36.43(a)
      100003537  XM_001343036.2  XP_001343072.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CIITA gene
    NLRC52  NOD22  NOD12  
    2 SIMAP similar genes for CIITA using alignment to 7 protein entries:     C2TA_HUMAN (see all proteins):
    C2TA    MHC2TA

    CIITA 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

    10/1437 SNPs in CIITA are shown (see all 1437)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0155514
    Bare lymphocyte syndrome 2 (BLS2)4--see VAR_0155512 L P mis40--------
    VAR_0155534
    Bare lymphocyte syndrome 2 (BLS2)4--see VAR_0155532 F S mis40--------
    rs1994760571,2
    Cuntested110866614(+) CTGGGC/TGGAGG 1 -- us2k10--------
    rs1994760601,2
    Cuntested110867153(+) AAAAGA/GCCGGG 1 -- int10--------
    rs1994760611,2
    Cuntested110885439(+) CCCGAC/GACAGA 2 D E mis10--------
    rs1994760621,2
    Cuntested110888665(+) AGTTGG/TTCTCT 1 -- int10--------
    rs1994760691,2
    Cuntested110896485(+) CGGCCA/GCGTGA 2 P syn10--------
    rs1994760701,2
    Cuntested110896939(+) CCGACA/GCCCTA 2 T A mis10--------
    VAR_0479074
    ----see VAR_0479072 R G mis40--------
    rs1442473991,2
    C--10864996(+) GATTAC/TAGGCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CIITA (10971055 - 11026079 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CIITA: --

    Human Gene Mutation Database (HGMD): CIITA

    Locus Specific Mutation Databases (LSDB): CIITA
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CIITA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600005   
    OMIM disorders: 209920  180300  
    UniProtKB/Swiss-Prot: C2TA_HUMAN, P33076
  • 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

  • 20/107 diseases for CIITA (see all 107):    About MalaCards
    multiple sclerosis    mhc class ii deficiency    toxic shock syndrome    staphylococcal toxic shock syndrome
    bare lymphocyte syndrome, type ii, complementation group a    ocular melanoma    cicatricial pemphigoid    ocular cicatricial pemphigoid
    bare lymphocyte syndrome    alopecia areata    myocarditis    primary immunodeficiency disease
    autoimmune myocarditis    pemphigus vulgaris    rheumatoid arthritis    stromal keratitis
    lyme disease    plasmacytoma    hair loss    measles

    1 disease from the University of Copenhagen DISEASES database for CIITA:
    Severe combined immunodeficiency

    CIITA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/96 Novoseek inferred disease relationships for CIITA gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bare lymphocyte syndrome 91.2 13 15655668 (1), 10417269 (1), 8402893 (1), 12705848 (1) (see all 12)
    hla-do 73.5 1 12938212 (1)
    toxic shock syndrome 52 5 1460432 (1), 8940217 (1), 9191070 (1), 10721486 (1) (see all 5)
    immunodeficiency 51.6 29 16973583 (1), 1934608 (1), 9166418 (1), 15655668 (1) (see all 27)
    autoimmune diseases 50.8 10 19317741 (3), 8700841 (1), 9115290 (1), 18630461 (1) (see all 8)
    ocular cicatricial pemphigoid 46.9 1 8710911 (1)
    necrosis 46.4 21 11104808 (1), 20478458 (1), 9857349 (1), 11907163 (1) (see all 20)
    encephalomyelitis 42.2 1 7542603 (1)
    autoimmunity 38.3 5 20403960 (1), 1713250 (1), 18593762 (1), 7507253 (1) (see all 5)
    autoimmune response 35.4 1 8583696 (1)

    Genetic Association Database (GAD): CIITA
    Human Genome Epidemiology (HuGE) Navigator: CIITA (42 documents)

    Export disorders for CIITA 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 CIITA gene, integrated from 9 sources (see all 589):
    (articles sorted by number of sources associating them with CIITA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). (PubMed id 8402893)1, 2, 3, 9 Steimle V.... Mach B. (1993)
    2. ZXDC, a novel zinc finger protein that binds CIITA and activates MHC gene transcription. (PubMed id 16600381)1, 2, 9 Al-Kandari W.... Fontes J.D. (2007)
    3. Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. (PubMed id 11862382)1, 2, 9 Dziembowska M.... Lisowska-Grospierre B. (2002)
    4. Activation of class II MHC genes requires both the X box region and the class II transactivator (CIITA). (PubMed id 7749984)1, 2, 9 Riley J.L.... Boss J.M. (1995)
    5. CIITA variation in the presence of HLA-DRB1*1501 incr eases risk for multiple sclerosis. (PubMed id 20211854)1, 4, 9 Bronson P.G....Haines J.L. (2010)
    6. Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility. (PubMed id 19317741)1, 4, 9 Dema B....NA_A+ez C. (2009)
    7. Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. (PubMed id 18593762)1, 4, 9 Skinningsrud B....Undlien D.E. (2008)
    8. The zinc finger proteins ZXDA and ZXDC form a complex that binds CIITA and regulates MHC II gene transcription. (PubMed id 17493635)1, 2, 9 Al-Kandari W.... Fontes J.D. (2007)
    9. Not polymorphism but methylation of class II transactivator gene promoter IV associated with persistent HBV infection. (PubMed id 16996793)1, 4, 9 He Y....Liu M. (2006)
    10. Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA). (PubMed id 11857059)1, 4, 9 Patarroyo J.C....Zamvil S.S. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4261 HGNC: 7067 AceView: MHC2TA Ensembl:ENSG00000179583 euGenes: HUgn4261
    ECgene: CIITA Kegg: 4261 H-InvDB: CIITA

    (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 CIITA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CIITA Genetics and Cytogenetics in Oncology and Haematology
    CIITAbasehttp://bioinf.uta.fi/CIITAbase/

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

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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