CIITA (MHC class II transactivator)
2000-07-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
16p13.13
LOCUSID
ALIAS
C2TA,CIITAIV,MHC2TA,NLRA
FUSION GENES
DNA/RNA
Transcription
6.7 kb mRNA; coding sequence: 3392 bp
Proteins
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
Entity name
Disease
non-Hodgkin lymphoma
Prognosis
yet unknown (only 1case available with certainty)
Hybrid gene
5 MHC2TA - 3 BCL6; MHC2TA fuses with the second exon of BCL6
Fusion 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 name
bare lymphocyte syndrome (BLS)
Note
at least five complementation groups
Disease
severe immunodeficiency due to failure to express MHC class II genes
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10614003 | 1999 | The class II transactivator CIITA is a transcriptional integrator. | Fontes JD et al |
| 10845913 | 2000 | Synergistic induction of HLA class I expression by RelA and CIITA. | Girdlestone J et al |
| 10809673 | 2000 | CIITA is a transcriptional coactivator that is recruited to MHC class II promoters by multiple synergistic interactions with an enhanceosome complex. | Masternak K et al |
| 8402893 | 1993 | Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). | Steimle V et al |
| 9600954 | 1998 | CIITA stimulation of transcription factor binding to major histocompatibility complex class II and associated promoters in vivo. | Wright KL et al |
| 10637510 | 1999 | 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 et al |
Other Information
Locus ID:
NCBI: 4261
MIM: 600005
HGNC: 7067
Ensembl: ENSG00000179583
Variants:
dbSNP: 4261
ClinVar: 4261
TCGA: ENSG00000179583
COSMIC: CIITA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38073129 | 2024 | The intrinsically disordered transcriptional activation domain of CIITA is functionally tuneable by single substitutions: An exception or a new paradigm? | 3 |
| 38073129 | 2024 | The intrinsically disordered transcriptional activation domain of CIITA is functionally tuneable by single substitutions: An exception or a new paradigm? | 3 |
| 37108368 | 2023 | NLRC5-CIITA Fusion Protein as an Effective Inducer of MHC-I Expression and Antitumor Immunity. | 2 |
| 37467968 | 2023 | The NLR member CIITA: Master controller of adaptive and intrinsic immunity and unexpected tool in cancer immunotherapy. | 6 |
| 37108368 | 2023 | NLRC5-CIITA Fusion Protein as an Effective Inducer of MHC-I Expression and Antitumor Immunity. | 2 |
| 37467968 | 2023 | The NLR member CIITA: Master controller of adaptive and intrinsic immunity and unexpected tool in cancer immunotherapy. | 6 |
| 35835655 | 2022 | Novel missense variant of CIITA contributing to endometriosis. | 1 |
| 36223747 | 2022 | Cancer-specific T helper shared and neo-epitopes uncovered by expression of the MHC class II master regulator CIITA. | 4 |
| 35835655 | 2022 | Novel missense variant of CIITA contributing to endometriosis. | 1 |
| 36223747 | 2022 | Cancer-specific T helper shared and neo-epitopes uncovered by expression of the MHC class II master regulator CIITA. | 4 |
| 33499042 | 2021 | The MHC Class II Transactivator CIITA: Not (Quite) the Odd-One-Out Anymore among NLR Proteins. | 32 |
| 33754173 | 2021 | HLA-DRB1 genes and the expression dynamics of HLA CIITA determine the susceptibility to T2DM. | 3 |
| 34180145 | 2021 | CIITA gene polymorphism (rs3087456) in systemic lupus erythematosus and rheumatoid arthritis: A population-based cohort study. | 0 |
| 33499042 | 2021 | The MHC Class II Transactivator CIITA: Not (Quite) the Odd-One-Out Anymore among NLR Proteins. | 32 |
| 33754173 | 2021 | HLA-DRB1 genes and the expression dynamics of HLA CIITA determine the susceptibility to T2DM. | 3 |
Citation
Jean-Loup Huret
CIITA (MHC class II transactivator)
Atlas Genet Cytogenet Oncol Haematol. 2000-07-01
Online version: http://atlasgeneticsoncology.org/gene/260/ciita
