CIITA (MHC class II transactivator)

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home Genes Leukemias Solid Tumors Cancer-Prone Deep Insight Case Reports Journals Portal Teaching

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CIITA (MHC class II transactivator)

Written	2000-07	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_names	MHC2TA
	MHC class II transactivator
	class II, major histocompatibility complex, transactivator
Alias_symbol (synonym)	C2TA
	NLRA
Other alias	MHC2TA (MHC class II transactivator)
HGNC (Hugo)	CIITA
LocusID (NCBI)	4261
Atlas_Id	260
Location	16p13.13 [Link to chromosome band 16p13]
Location_base_pair	Starts at 10877198 and ends at 10924983 bp from pter ( according to hg19-Feb_2009) [Mapping CIITA.png]

Fusion genes
(updated 2017)

Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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) / C15orf65 (15q21.3)
CIITA (16p13.13) / CD274 (9p24.1)	CIITA (16p13.13) / DUX4L10 (10q26.3)	CIITA (16p13.13) / PDCD1LG2 (9p24.1)
CIITA (16p13.13) / RALGDS (9q34.13)	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

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

Synergistic induction of HLA class I expression by RelA and CIITA.

Girdlestone J

Blood. 2000 ; 95 (12) : 3804-3808.

PMID 10845913

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

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

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

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) [ 8 ]

t(3;16)(q27;p13) CIITA/BCL6
t(9;16)(p24;p13) CIITA/CD274
t(9;16)(p24;p13) CIITA/PDCD1LG2
t(9;16)(q34;p13) CIITA/RALGDS
t(15;16)(q21;p13) CIITA/C15orf65
t(16;16)(p13;p13) CIITA/???
t(16;16)(p13;p13) CIITA/RMI2
t(16;16)(p13;p13) CIITA/SNX29

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]

t(7;16)(q34;p13) BRAF/CIITA
CIITA/DEXI (16p13)

External links

	Nomenclature
HGNC (Hugo)	CIITA 7067
LRG (Locus Reference Genomic)	LRG_49
	Cards
Atlas	MHC2TAID260
Entrez_Gene (NCBI)	CIITA 4261 class II major histocompatibility complex transactivator
Aliases	C2TA; CIITAIV; MHC2TA; NLRA
GeneCards (Weizmann)	CIITA
Ensembl hg19 (Hinxton)	ENSG00000179583 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000179583 [Gene_View] ENSG00000179583 [Sequence] chr16:10877198-10924983 [Contig_View] CIITA [Vega]
ICGC DataPortal	ENSG00000179583
TCGA cBioPortal	CIITA
AceView (NCBI)	CIITA
Genatlas (Paris)	CIITA
WikiGenes	4261
SOURCE (Princeton)	CIITA
Genetics Home Reference (NIH)	CIITA
	Genomic and cartography
GoldenPath hg38 (UCSC)	CIITA - chr16:10877198-10924983 + 16p13.13 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	CIITA - 16p13.13 [Description] (hg19-Feb_2009)
GoldenPath	CIITA - 16p13.13 [CytoView hg19] CIITA - 16p13.13 [CytoView hg38]
ImmunoBase	ENSG00000179583
Mapping of homologs : NCBI	CIITA [Mapview hg19] CIITA [Mapview hg38]
OMIM	180300 209920 600005
	Gene and transcription
Genbank (Entrez)	AF410154 AK124033 AY084054 AY084055 AY699071
RefSeq transcript (Entrez)	NM_000246 NM_001286402 NM_001286403
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	CIITA
Cluster EST : Unigene	Hs.701991 [ NCBI ]
CGAP (NCI)	Hs.701991
Alternative Splicing Gallery	ENSG00000179583
Gene Expression	CIITA [ 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]
Genevestigator	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	4261
GTEX Portal (Tissue expression)	CIITA
Human Protein Atlas	ENSG00000179583-CIITA [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P33076 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P33076 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P33076
Splice isoforms : SwissVar	P33076
PhosPhoSitePlus	P33076
Domaine pattern : Prosite (Expaxy)	LRR (PS51450) NACHT (PS50837)
Domains : Interpro (EBI)	Leu-rich_rpt LRR_dom_sf MHC_II_transact NACHT_NTPase P-loop_NTPase
Domain families : Pfam (Sanger)	LRR_6 (PF13516)
Domain families : Pfam (NCBI)	pfam13516
Conserved Domain (NCBI)	CIITA
DMDM Disease mutations	4261
Blocks (Seattle)	CIITA
Superfamily	P33076
Human Protein Atlas [tissue]	ENSG00000179583-CIITA [tissue]
Peptide Atlas	P33076
HPRD	02475
IPI	IPI00186224 IPI00641977 IPI00642602 IPI01015155 IPI00783878
	Protein Interaction databases
DIP (DOE-UCLA)	P33076
IntAct (EBI)	P33076
FunCoup	ENSG00000179583
BioGRID	CIITA
STRING (EMBL)	CIITA
ZODIAC	CIITA
	Ontologies - Pathways
QuickGO	P33076
Ontology : AmiGO	negative regulation of transcription by RNA polymerase II DNA binding transcription coactivator activity protein binding ATP binding GTP binding nucleoplasm inflammatory response immune response protein C-terminus binding kinase activity phosphorylation PML body transferase activity, transferring acyl groups negative regulation of collagen biosynthetic process activating transcription factor binding activating transcription factor binding response to interferon-gamma transcription regulatory region DNA binding protein-containing complex binding positive regulation of MHC class I biosynthetic process positive regulation of MHC class I biosynthetic process positive regulation of MHC class II 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 by RNA polymerase II positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II response to antibiotic interferon-gamma-mediated signaling pathway
Ontology : EGO-EBI	negative regulation of transcription by RNA polymerase II DNA binding transcription coactivator activity protein binding ATP binding GTP binding nucleoplasm inflammatory response immune response protein C-terminus binding kinase activity phosphorylation PML body transferase activity, transferring acyl groups negative regulation of collagen biosynthetic process activating transcription factor binding activating transcription factor binding response to interferon-gamma transcription regulatory region DNA binding protein-containing complex binding positive regulation of MHC class I biosynthetic process positive regulation of MHC class I biosynthetic process positive regulation of MHC class II 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 by RNA polymerase II positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II response to antibiotic interferon-gamma-mediated signaling pathway
Pathways : KEGG	Antigen processing and presentation Toxoplasmosis Tuberculosis Influenza A Primary immunodeficiency
REACTOME	P33076 [protein]
REACTOME Pathways	R-HSA-877300 [pathway]
NDEx Network	CIITA
Atlas of Cancer Signalling Network	CIITA
Wikipedia pathways	CIITA
	Orthology - Evolution
OrthoDB	4261
GeneTree (enSembl)	ENSG00000179583
Phylogenetic Trees/Animal Genes : TreeFam	CIITA
HOGENOM	P33076
Homologs : HomoloGene	CIITA
Homology/Alignments : Family Browser (UCSC)	CIITA
	Gene fusions - Rearrangements
Fusion : Mitelman	BCL6/CIITA [3q27.3/16p13.13] [t(3;16)(q27;p13)]
Fusion : Mitelman	BRAF/CIITA [7q34/16p13.13] [t(7;16)(q34;p13)]
Fusion : Mitelman	CIITA/- [16p13.13/t(15;16)(q13;p13)]
Fusion : Mitelman	CIITA/BCL6 [16p13.13/3q27.3] [t(3;16)(q27;p13)]
Fusion : Mitelman	CIITA/CD274 [16p13.13/9p24.1] [t(9;16)(p24;p13)]
Fusion : Mitelman	CIITA/PDCD1LG2 [16p13.13/9p24.1] [t(9;16)(p24;p13)]
Fusion : Mitelman	CIITA/RALGDS [16p13.13/9q34.2] [t(9;16)(q34;p13)]
Fusion : Mitelman	CIITA/RMI2 [16p13.13/16p13.13] [t(16;16)(p13;p13)]
Fusion : Mitelman	CIITA/SNX29 [16p13.13/16p13.13] [t(16;16)(p13;p13)]
Fusion Portal	BRAF 7q34 CIITA 16p13.13 THCA
Fusion : FusionGDB	35289 4357 7239 7240 7241
Fusion : Fusion_Hub	AC133065.2--CIITA AC133065.6--CIITA BCL6--CIITA BRAF--CIITA BX648577--CIITA C16ORF75--CIITA CD273--CIITA CD274--CIITA CIITA--DEXI CIITA--FLJ27352 CIITA--GH1 CIITA--LONP2 CIITA--LSP1 CIITA--PDCD1LG2 CIITA--PIK3C2A
	CIITA--PRDM16 CIITA--RALGDS CIITA--RP11-876N24.3 CIITA--RUNDC2A CIITA--WDR60 CIITA--WNK1 SNX29--CIITA TVP23A--CIITA
Fusion : Quiver	CIITA
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	CIITA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	CIITA
dbVar	CIITA
ClinVar	CIITA
1000_Genomes	CIITA
Exome Variant Server	CIITA
ExAC (Exome Aggregation Consortium)	ENSG00000179583
GNOMAD Browser	ENSG00000179583
Varsome Browser	CIITA
Genetic variants : HAPMAP	4261
Genomic Variants (DGV)	CIITA [DGVbeta]
DECIPHER	CIITA [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	CIITA
	Mutations
ICGC Data Portal	CIITA
TCGA Data Portal	CIITA
Broad Tumor Portal	CIITA
OASIS Portal	CIITA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	CIITA [overview] [genome browser] [tissue] [distribution]
Somatic Mutations in Cancer : COSMIC3D	CIITA
Mutations and Diseases : HGMD	CIITA
intOGen Portal	CIITA
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
BioMuta	search 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)
intoGen	CIITA
NCG5 (London)	CIITA
Cancer3D	CIITA(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	180300 209920 600005
Orphanet	3279
DisGeNET	CIITA
Medgen	CIITA
Genetic Testing Registry	CIITA
NextProt	P33076 [Medical]
TSGene	4261
GENETests	CIITA
Target Validation	CIITA
Huge Navigator	CIITA [HugePedia]
snp3D : Map Gene to Disease	4261
BioCentury BCIQ	CIITA
ClinGen	CIITA
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	4261
Chemical/Pharm GKB Gene	PA30795
Clinical trial	CIITA
	Miscellaneous
canSAR (ICR)	CIITA (select the gene name)
DataMed Index	CIITA
	Probes
	Litterature
PubMed	203 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	CIITA
EVEX	CIITA
GoPubMed	CIITA
iHOP	CIITA

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Wed Nov 13 21:37:12 CET 2019

Home Genes Leukemias Solid Tumors Cancer-Prone Deep Insight Case Reports Journals Portal Teaching

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.