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CIITA (MHC class II transactivator)

Written2000-07Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other namesMHC2TA (MHC class II transactivator)
C2TA
HGNC (Hugo) CIITA
LocusID (NCBI) 4261
Atlas_Id 260
Location 16p13.13
Location_base_pair Starts at 10971055 and ends at 11018840 bp from pter ( according to hg19-Feb_2009)  [Mapping CIITA.png]
Fusion genes
(updated 2016)
BCL6 (3q27.3) / CIITA (16p13.13)BRAF (7q34) / CIITA (16p13.13)C15orf65 (15q21.3) / CIITA (16p13.13)
CD274 (9p24.1) / CIITA (16p13.13)CIITA (16p13.13) / BCL6 (3q27.3)CIITA (16p13.13) / C16orf75 ()
CIITA (16p13.13) / CD274 (9p24.1)CIITA (16p13.13) / FLJ27352 ()CIITA (16p13.13) / PDCD1LG2 (9p24.1)
CIITA (16p13.13) / RALGDS (9q34.2)CIITA (16p13.13) / RMI2 (16p13.13)CIITA (16p13.13) / SNX29 (16p13.13)
PDCD1LG2 (9p24.1) / CIITA (16p13.13)RALGDS (9q34.2) / CIITA (16p13.13)RMI2 (16p13.13) / CIITA (16p13.13)
SNX29 (16p13.13) / CIITA (16p13.13)

DNA/RNA

Transcription 6.7 kb mRNA; coding sequence: 3392 bp

Protein

Description 1130 amino acids
Function non-DNA-binding transcriptional coactivator; highly regulated; IFN-gamma-inducible; transactivator of the major histocompatibility complex (MHC) class II genes, herein the name; DM and Ii (molecules associated to MHC class II) are also regulated by MHC2TA; MHC2TA also transactivates MHC class I; lymphoid cells of MHC2TA-null mice do not express MHC class II

Implicated in

Note
Entity t(3;16)(q27;p13)/ BCL6
Disease non-Hodgkin lymphoma
Prognosis yet unknown (only 1case available with certainty)
Hybrid/Mutated Gene 5' MHC2TA - 3' BCL6; MHC2TA fuses with the second exon of BCL6
Abnormal Protein no fusion protein, but promoter exchange
Oncogenesis BCL6 is a transcription repressor; it is supposed that substitution of the promoter of BCL6 may be responsible for BCL6 deregulation
  
Entity bare lymphocyte syndrome (BLS)
Note at least five complementation groups
Disease severe immunodeficiency due to failure to express MHC class II genes
  

Bibliography

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).
Steimle V, Otten LA, Zufferey M, Mach B
Cell. 1993 ; 75 (1) : 135-146.
PMID 8402893
 
CIITA stimulation of transcription factor binding to major histocompatibility complex class II and associated promoters in vivo.
Wright KL, Chin KC, Linhoff M, Skinner C, Brown JA, Boss JM, Stark GR, Ting JP
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (11) : 6267-6272.
PMID 9600954
 
The class II transactivator CIITA is a transcriptional integrator.
Fontes JD, Kanazawa S, Nekrep N, Peterlin BM
Microbes and infection / Institut Pasteur. 1999 ; 1 (11) : 863-869.
PMID 10614003
 
Identification of heterologous translocation partner genes fused to the BCL6 gene in diffuse large B-cell lymphomas: 5'-RACE and LA - PCR analyses of biopsy samples.
Yoshida S, Kaneita Y, Aoki Y, Seto M, Mori S, Moriyama M
Oncogene. 1999 ; 18 (56) : 7994-7999.
PMID 10637510
 
CIITA is a transcriptional coactivator that is recruited to MHC class II promoters by multiple synergistic interactions with an enhanceosome complex.
Masternak K, Muhlethaler-Mottet A, Villard J, Zufferey M, Steimle V, Reith W
Genes & development. 2000 ; 14 (9) : 1156-1166.
PMID 10809673
 
Synergistic induction of HLA class I expression by RelA and CIITA.
Girdlestone J
Blood. 2000 ; 95 (12) : 3804-3808.
PMID 10845913
 

Citation

This paper should be referenced as such :
Huret, JL
CIITA (MHC class II transactivator)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(3):103-104.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MHC2TAID260.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  3q27 rearrangements (BCL6) in non Hodgkin lymphoma;t(3;Var)(q27;Var) in non Hodgkin lymphoma
t(3;16)(q27;p13) CIITA/BCL6

External links

Nomenclature
HGNC (Hugo)CIITA   7067
Cards
AtlasMHC2TAID260
Entrez_Gene (NCBI)CIITA  4261  class II, major histocompatibility complex, transactivator
AliasesC2TA; CIITAIV; MHC2TA; NLRA
GeneCards (Weizmann)CIITA
Ensembl hg19 (Hinxton)ENSG00000179583 [Gene_View]  chr16:10971055-11018840 [Contig_View]  CIITA [Vega]
Ensembl hg38 (Hinxton)ENSG00000179583 [Gene_View]  chr16:10971055-11018840 [Contig_View]  CIITA [Vega]
ICGC DataPortalENSG00000179583
TCGA cBioPortalCIITA
AceView (NCBI)CIITA
Genatlas (Paris)CIITA
WikiGenes4261
SOURCE (Princeton)CIITA
Genomic and cartography
GoldenPath hg19 (UCSC)CIITA  -     chr16:10971055-11018840 +  16p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CIITA  -     16p13   [Description]    (hg38-Dec_2013)
EnsemblCIITA - 16p13 [CytoView hg19]  CIITA - 16p13 [CytoView hg38]
Mapping of homologs : NCBICIITA [Mapview hg19]  CIITA [Mapview hg38]
OMIM180300   209920   600005   
Gene and transcription
Genbank (Entrez)AF410154 AY084054 AY084055 AY699071 BC172348
RefSeq transcript (Entrez)NM_000246 NM_001286402 NM_001286403
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_009628 NT_010393 NW_004929400
Consensus coding sequences : CCDS (NCBI)CIITA
Cluster EST : UnigeneHs.701991 [ NCBI ]
CGAP (NCI)Hs.701991
Alternative Splicing GalleryENSG00000179583
Gene ExpressionCIITA [ NCBI-GEO ]   CIITA [ EBI - ARRAY_EXPRESS ]   CIITA [ SEEK ]   CIITA [ MEM ]
Gene Expression Viewer (FireBrowse)CIITA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4261
GTEX Portal (Tissue expression)CIITA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP33076 (Uniprot)
NextProtP33076  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP33076
Splice isoforms : SwissVarP33076 (Swissvar)
Catalytic activity : Enzyme2.3.1.- [ Enzyme-Expasy ]   2.3.1.-2.3.1.- [ IntEnz-EBI ]   2.3.1.- [ BRENDA ]   2.3.1.- [ KEGG ]   
PhosPhoSitePlusP33076
Domaine pattern : Prosite (Expaxy)LRR (PS51450)    NACHT (PS50837)   
Domains : Interpro (EBI)L_dom-like    Leu-rich_rpt    MHC_II_transact    NACHT_NTPase    P-loop_NTPase   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations4261
Blocks (Seattle)CIITA
SuperfamilyP33076
Human Protein AtlasENSG00000179583
Peptide AtlasP33076
HPRD02475
IPIIPI00186224   IPI00641977   IPI00642602   IPI01015155   IPI00783878   
Protein Interaction databases
DIP (DOE-UCLA)P33076
IntAct (EBI)P33076
FunCoupENSG00000179583
BioGRIDCIITA
STRING (EMBL)CIITA
ZODIACCIITA
Ontologies - Pathways
QuickGOP33076
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  DNA binding  transcription coactivator activity  protein binding  ATP binding  GTP binding  nucleoplasm  transcription, DNA-templated  immune response  protein C-terminus binding  kinase activity  phosphorylation  PML body  transferase activity, transferring acyl groups  protein complex binding  negative regulation of collagen biosynthetic process  activating transcription factor binding  response to interferon-gamma  transcription regulatory region DNA binding  positive regulation of MHC class I biosynthetic process  positive regulation of MHC class II biosynthetic process  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  response to antibiotic  interferon-gamma-mediated signaling pathway  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  DNA binding  transcription coactivator activity  protein binding  ATP binding  GTP binding  nucleoplasm  transcription, DNA-templated  immune response  protein C-terminus binding  kinase activity  phosphorylation  PML body  transferase activity, transferring acyl groups  protein complex binding  negative regulation of collagen biosynthetic process  activating transcription factor binding  response to interferon-gamma  transcription regulatory region DNA binding  positive regulation of MHC class I biosynthetic process  positive regulation of MHC class II biosynthetic process  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  response to antibiotic  interferon-gamma-mediated signaling pathway  
Pathways : KEGGAntigen processing and presentation    Toxoplasmosis    Tuberculosis    Influenza A    Primary immunodeficiency   
REACTOMEP33076 [protein]
REACTOME PathwaysR-HSA-877300 Interferon gamma signaling [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkCIITA
Wikipedia pathwaysCIITA
Orthology - Evolution
OrthoDB4261
GeneTree (enSembl)ENSG00000179583
Phylogenetic Trees/Animal Genes : TreeFamCIITA
Homologs : HomoloGeneCIITA
Homology/Alignments : Family Browser (UCSC)CIITA
Gene fusions - Rearrangements
Fusion : MitelmanBCL6/CIITA [3q27.3/16p13.13]  [t(3;16)(q27;p13)]  
Fusion : MitelmanBRAF/CIITA [7q34/16p13.13]  [t(7;16)(q34;p13)]  
Fusion : MitelmanCIITA/- [16p13.13/t(15;16)(q13;p13)]  
Fusion : MitelmanCIITA/BCL6 [16p13.13/3q27.3]  [t(3;16)(q27;p13)]  
Fusion : MitelmanCIITA/CD274 [16p13.13/9p24.1]  [t(9;16)(p24;p13)]  
Fusion : MitelmanCIITA/PDCD1LG2 [16p13.13/9p24.1]  [t(9;16)(p24;p13)]  
Fusion : MitelmanCIITA/RALGDS [16p13.13/9q34.2]  [t(9;16)(q34;p13)]  
Fusion : MitelmanCIITA/RMI2 [16p13.13/16p13.13]  [t(16;16)(p13;p13)]  
Fusion : MitelmanCIITA/SNX29 [16p13.13/16p13.13]  [t(16;16)(p13;p13)]  
Fusion: TCGABRAF 7q34 CIITA 16p13.13 THCA
Polymorphisms : SNP, variants
NCBI Variation ViewerCIITA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CIITA
dbVarCIITA
ClinVarCIITA
1000_GenomesCIITA 
Exome Variant ServerCIITA
ExAC (Exome Aggregation Consortium)CIITA (select the gene name)
Genetic variants : HAPMAP4261
Genomic Variants (DGV)CIITA [DGVbeta]
Mutations
ICGC Data PortalCIITA 
TCGA Data PortalCIITA 
Broad Tumor PortalCIITA
OASIS PortalCIITA [ Somatic mutations - Copy number]
Cancer Gene: CensusCIITA 
Somatic Mutations in Cancer : COSMICCIITA 
intOGen PortalCIITA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch CIITA
DgiDB (Drug Gene Interaction Database)CIITA
DoCM (Curated mutations)CIITA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CIITA (select a term)
intoGenCIITA
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:10971055-11018840  ENSG00000179583
CONAN: Copy Number AnalysisCIITA 
Mutations and Diseases : HGMDCIITA
OMIM180300    209920    600005   
MedgenCIITA
Genetic Testing Registry CIITA
NextProtP33076 [Medical]
TSGene4261
GENETestsCIITA
Huge Navigator CIITA [HugePedia]
snp3D : Map Gene to Disease4261
BioCentury BCIQCIITA
ClinGenCIITA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4261
Chemical/Pharm GKB GenePA30795
Clinical trialCIITA
Miscellaneous
canSAR (ICR)CIITA (select the gene name)
Probes
Litterature
PubMed183 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCIITA
EVEXCIITA
GoPubMedCIITA
iHOPCIITA
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat May 28 11:43:22 CEST 2016

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.