Alias (NCBI) | MHC2TA (MHC class II transactivator) |
| C2TA |
HGNC (Hugo) |
CIITA |
HGNC Alias symb | C2TA |
| NLRA |
HGNC Alias name | "NLR family, acid domain containing |
| nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing" |
HGNC Previous name | MHC2TA |
HGNC Previous name | "MHC class II transactivator |
| class II, major histocompatibility complex, transactivator" |
LocusID (NCBI) |
4261 |
Atlas_Id |
260 |
Location |
16p13.13 [Link to chromosome band 16p13] |
Location_base_pair |
Starts at 10877202 and ends at 10936393 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping CIITA.png] |
| 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) |
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 |
|
| Nomenclature |
HGNC (Hugo) | CIITA 7067 |
LRG (Locus Reference Genomic) | LRG_49 |
| Cards |
Atlas | MHC2TAID260 |
Entrez_Gene (NCBI) | CIITA 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] chr16:10877202-10936393 [Contig_View] CIITA [Vega] |
ICGC DataPortal | ENSG00000179583 |
TCGA cBioPortal | CIITA |
AceView (NCBI) | CIITA |
Genatlas (Paris) | CIITA |
SOURCE (Princeton) | CIITA |
Genetics Home Reference (NIH) | CIITA |
| Genomic and cartography |
GoldenPath hg38 (UCSC) | CIITA - chr16:10877202-10936393 + 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 |
genome Data Viewer NCBI | CIITA [Mapview hg19] |
OMIM | 180300 209920 600005 |
| Gene and transcription |
Genbank (Entrez) | AF410154 AK124033 AY084054 AY084055 AY699071 |
RefSeq transcript (Entrez) | NM_000246 NM_001286402 NM_001286403 NM_001379330 NM_001379331 NM_001379332 NM_001379333 NM_001379334 |
RefSeq genomic (Entrez) | |
Consensus coding sequences : CCDS (NCBI) | CIITA |
Alternative Splicing Gallery | ENSG00000179583 |
Gene Expression | CIITA [ NCBI-GEO ] CIITA [ EBI - ARRAY_EXPRESS ]
CIITA [ SEEK ] CIITA [ MEM ] |
Gene Expression Viewer (FireBrowse) | CIITA [ Firebrowse - Broad ] |
Genevisible | Expression of CIITA 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) NACHT (PF05729) |
Domain families : Pfam (NCBI) | pfam13516 pfam05729 |
Conserved Domain (NCBI) | CIITA |
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 |
BioGRID | CIITA |
STRING (EMBL) | CIITA |
ZODIAC | CIITA |
| Ontologies - Pathways |
QuickGO | P33076 |
Ontology : AmiGO | "negative regulation of transcription by RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA binding transcription coactivator activity protein binding ATP binding GTP binding nucleoplasm nucleoplasm cytosol protein phosphorylation inflammatory response immune response protein C-terminus binding 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 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 negative regulation of viral entry into host cell response to antibiotic interferon-gamma-mediated signaling pathway protein serine kinase activity protein threonine kinase activity" |
Ontology : EGO-EBI | "negative regulation of transcription by RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA binding transcription coactivator activity protein binding ATP binding GTP binding nucleoplasm nucleoplasm cytosol protein phosphorylation inflammatory response immune response protein C-terminus binding 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 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 negative regulation of viral entry into host cell response to antibiotic interferon-gamma-mediated signaling pathway protein serine kinase activity protein threonine kinase activity" |
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]   |
Fusion : Mitelman | BRAF/CIITA [7q34/16p13.13]   |
Fusion : Mitelman | CIITA/- [16p13.13/t(15;16)(q13;p13)]   |
Fusion : Mitelman | CIITA/BCL6 [16p13.13/3q27.3]   |
Fusion : Mitelman | CIITA/CD274 [16p13.13/9p24.1]   |
Fusion : Mitelman | CIITA/PDCD1LG2 [16p13.13/9p24.1]   |
Fusion : Mitelman | CIITA/RALGDS [16p13.13/9q34.2]   |
Fusion : Mitelman | CIITA/RMI2 [16p13.13/16p13.13]   |
Fusion : Mitelman | CIITA/SNX29 [16p13.13/16p13.13]   |
Fusion Portal | BRAF 7q34 CIITA 16p13.13 THCA |
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] |
dbVar | CIITA |
ClinVar | CIITA |
Monarch | CIITA |
1000_Genomes | CIITA |
Exome Variant Server | CIITA |
GNOMAD Browser | ENSG00000179583 |
Varsome Browser | CIITA |
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] |
Cancer Gene: Census | CIITA |
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 |
OncoKB | CIITA |
NCG6 (London) | select 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] |
GENETests | CIITA |
Target Validation | CIITA |
Huge Navigator |
CIITA [HugePedia] |
ClinGen | CIITA |
| Clinical trials, drugs, therapy |
---|
MyCancerGenome | CIITA |
Protein Interactions : CTD | |
Pharm GKB Gene | PA30795 |
Pharos | P33076 |
Clinical trial | CIITA |
| Miscellaneous |
---|
canSAR (ICR) | CIITA (select the gene name) |
Harmonizome | CIITA |
DataMed Index | CIITA |
| Probes |
---|
| Litterature |
---|
PubMed | 210 Pubmed reference(s) in Entrez |
GeneRIFs | Gene References Into Functions (Entrez) |
EVEX | CIITA |