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CIITA Gene

protein-coding   GIFtS: 57
GCID: GC16P010971

Class II, Major Histocompatibility Complex, Transactivator

(Previous name: MHC class II transactivator)
(Previous symbol: MHC2TA)
  See CIITA-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
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

Previous GC identifer: GC16P010879


(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 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. Several transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Nov 2013)

GeneCards Summary for CIITA Gene:
CIITA (class II, major histocompatibility complex, transactivator) is a protein-coding gene. Diseases associated with CIITA include bare lymphocyte syndrome, type ii, complementation group a, and staphylococcal toxic shock syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for CIITA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC16P010971:  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 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_000237.2  NP_001273331.1  NP_001273332.1  

    ENSEMBL proteins: 
     ENSP00000316328   ENSP00000371257   ENSP00000459829   ENSP00000459608  
    Reactome Protein details: P33076

    CIITA Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate 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

     
    Search eBioscience for Proteins for CIITA 

     
    antibodies-online proteins for CIITA (2 products) 

     
    antibodies-online peptides for CIITA

    CIITA Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CIITA
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    ThermoFisher Antibodies for CIITA
    antibodies-online antibodies for CIITA (45 products) 

    CIITA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    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
    Search eBioscience for ELISAs for CIITA 
    antibodies-online kits for CIITA (4 products) 


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

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

    5 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR008095 MHC_II_transact
     IPR007111 NACHT_NTPase
     IPR027417 P-loop_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


    Find genes that share domains with CIITA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: 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): Selected molecular function terms (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
         
    Find genes that share ontologies with CIITA           About GenesLikeMe


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

    Find genes that share phenotypes with CIITA           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for CIITA

    miRNA
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    miRTarBase miRNAs that target CIITA:
    hsa-mir-335-5p (MIRT019135)

    Block miRNA regulation of human, mouse, rat CIITA using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for CIITA
    Predesigned siRNA for gene silencing in human, mouse, rat CIITA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CIITA

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    OriGene ORF clones in mouse, rat for CIITA
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    GenScript: all cDNA clones in your preferred vector: CIITA (NM_000246)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CIITA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CIITA
    Addgene plasmids for CIITA 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CIITA 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIITA


    (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
    C2TA_HUMAN, P33076: Nucleus. Nucleus, PML body. Note=Recruited to PML body by PML
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    plasma membrane3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0009986cell surface IEA--
    GO:0016605PML body IDA--

    Find genes that share ontologies with CIITA           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 CIITA About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    2Allograft rejection
    Antigen processing and presentation0.36
    3Leishmaniasis
    Toxoplasmosis0.35
    4Influenza A
    Influenza A0.34
    5Type II interferon signaling (IFNG)
    Type II interferon signaling (IFNG)


    Find genes that share SuperPaths with CIITA           About GenesLikeMe

    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)

    1 Reactome Pathway for CIITA
        Interferon gamma signaling


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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for CIITA

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

    Selected 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): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP19041327
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006954inflammatory response IEA--
    GO:0006955immune response TAS8402893

    Find genes that share ontologies with CIITA           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CIITA (C2TA)

    Selected 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)



    Find genes that share compounds with CIITA           About GenesLikeMe



    (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 CIITA gene (3 alternative transcripts): 
    NM_000246.3  NM_001286402.1  NM_001286403.1  

    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
    miRNA
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    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat CIITA
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    GenScript: all cDNA clones in your preferred vector: CIITA (NM_000246)
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    Addgene plasmids for CIITA 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CIITA
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      QuantiFast Probe-based Assays in human, mouse, rat CIITA

    Selected AceView cDNA sequences (see all 101):

    AW451712 U18303 AA287082 AI627287 AI640166 U18302 BF767857 AA905448 
    AA211835 AA721482 AI698228 AY084054 BQ694865 AY699071 BM477926 CF121763 
    AW016179 CF121798 CA309337 AA948561 X74301 BQ331865 AY084055 AA760807 

    GeneLoc Exon Structure

    Selected 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™, 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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    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

    CIITA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CIITA Protein Expression
        Pathway & Disease-focused RT2 Profiler 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

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CIITA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIITA

    (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

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    This gene was present in the common ancestor of chordates.

    Orthologs for CIITA gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ciita1 , 5 class II transactivator1, 5 77.06(n)1
    74.48(a)1
      16 (5.65 cM)5
    122651  NM_001243760.11  NP_001230689.11 
     104881785 
    chicken
    (Gallus gallus)
    Aves LOC4166331 class II, major histocompatibility complex, transactivator-like 52.21(n)
    45.78(a)
      416633  XM_004945315.1  XP_004945372.1 
    lizard
    (Anolis carolinensis)
    Reptilia CIITA6
    class II, major histocompatibility complex, transa...
    32(a)
    1 ↔ 1
    GL343592.1(344775-370842)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ciita1 class II, major histocompatibility complex, transactivator 43.84(n)
    33.02(a)
      101734303  XM_004918272.1  XP_004918329.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ciita1 class II, major histocompatibility complex, transactivator 46.56(n)
    36.35(a)
      100003537  XM_005163915.1  XP_005163972.1 


    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)
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    Paralogs for CIITA gene
    NLRC52  NOD22  NLRX12  NLRP12  CARD82  NOD12  
    1 SIMAP similar gene for CIITA using alignment to 7 protein entries:     C2TA_HUMAN (see all proteins):
    MHC2TA

    Find genes that share paralogs with CIITA           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 CIITA (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--------
    rs1442473991,2
    C--10864996(+) GATTAC/TAGGCA 1 -- us2k10--------
    rs1832333231,2
    --10865133(+) CACCCA/GGGGAC 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CIITA
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for CIITA (see all 24):    
    About MalaCards
    bare lymphocyte syndrome, type ii, complementation group a    staphylococcal toxic shock syndrome    mhc class ii deficiency    mhc class ii deficiency, complementation group b
    bare lymphocyte syndrome    ocular melanoma    bare lymphocyte syndrome, type ii, complementation group e    cicatricial pemphigoid
    bare lymphocyte syndrome, type ii, complementation group d    multiple sclerosis    ocular cicatricial pemphigoid    severe hemophilia a
    myocarditis    toxic shock syndrome    primary immunodeficiency disease    alopecia areata
    bare lymphocyte syndrome, type ii, complementation group c    stromal keratitis    autoimmune myocarditis    lyme disease

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

    Find genes that share disorders with CIITA           About GenesLikeMe

    Selected 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)
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    PubMed articles for CIITA gene, integrated from 10 sources (see all 596):
    (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. (Cell 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. (Mol. Immunol. 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. (Immunogenetics 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. (Immunity 1995)
    5. CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis. (PubMed id 20211854)1, 4, 9 Bronson P.G....Barcellos L.F. (Hum. Mol. Genet. 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. (Tissue Antigens 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. (J. Clin. Endocrinol. Metab. 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. (J. Mol. Biol. 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. (J. Clin. Virol. 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. (Genes Immun. 2002)

    (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: 4261 HGNC: 7067 AceView: MHC2TA Ensembl:ENSG00000179583 euGenes: HUgn4261
    ECgene: CIITA Kegg: 4261 H-InvDB: CIITA

    (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)
    About This Section

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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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