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Immunopharmacology Ligand target has curated data in GtoImmuPdb

Target id: 1767

Nomenclature: CIITA

Family: NOD-like receptor family

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 1130 16p13.13 CIITA class II major histocompatibility complex transactivator
Mouse - 1155 16 A1 Ciita class II transactivator
Rat - - 10 q11 Ciita class II, major histocompatibility complex, transactivator
Previous and Unofficial Names Click here for help
C2TA | MHC2TA | MHC class II transactivator | class II transactivator | Class II major histocompatability complex | CIITAIV | NLRA | nucleotide-binding oligomerization domain, leucine rich repeat and acidic domain containing (NLRA) | class II | class II, major histocompatibility complex, transactivator
Database Links Click here for help
Ensembl Gene
Entrez Gene
Human Protein Atlas
Immunopharmacology Comments
CIITA is a transcriptional coactivator for the transcription factor RFX5 [5]. Evidence suggests that it is involved in expression of HLA class II genes [1-2,4]. CIITA mRNA is found only in human leukocyte antigen (HLA) system class II-positive cell lines and tissues. In humans, genetic variations in CIITA are associated with differential expression of MHC-II and susceptibility to autoimmune diseases, although the contribution that altered expression plays in autoimmune pathologies has not been fully resolved [7]. It is hypothesised that cytokine-driven JAK-mediated signals downregulate CIITA and MHC-II expression to enable host immune evasion by chronic myeloid leukemia stem/progenitor cells that persist after tyrosine kinase inhibitor therapy and are a relapse risk [6].
Cell Type Associations
Immuno Cell Type:  Dendritic cells
Cell Ontology Term:   dendritic cell (CL:0000451)
Comment:  CIITA is the master regulator of MHC-II expression on antigen-presenting cells.
Immuno Process Associations
Immuno Process:  Inflammation
Immuno Process:  Cytokine production & signalling
Immuno Disease Associations
Disease Name:  Behcet syndrome
Disease Synonyms:  no synonynms
Comment:  Genetic variations in CIITA are associated with Behcet's disease in a Chinese Han population, and confer disease susceptibility.
Disease X-refs:  Disease Ontology: DOID:13241
OMIM: 109650
Orphanet: ORPHA117
References:  3
Physiological Functions Comments
Transactivator of class II major histocompatibility complex genes.
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Bare lymphocyte syndrome, type II
Synonyms: Immunodeficiency by defective expression of HLA class 2 [Orphanet: ORPHA572]
OMIM: 209920
Orphanet: ORPHA572
Disease:  B-cell lymphoma
Disease Ontology: DOID:707
Disease:  Bone density defects
Disease:  Celiac disease
Disease Ontology: DOID:10608
Disease:  Diabetes mellitus, insulin-dependent; IDDM
Synonyms: Type 1 diabetes mellitus [Disease Ontology: DOID:9744]
Disease Ontology: DOID:9744
OMIM: 222100
Disease:  Lymphoma, Hodgkin, Classic; CHL
Synonyms: Hodgkin lymphoma
Hodgkin's lymphoma [Disease Ontology: DOID:8567]
Disease Ontology: DOID:8567
OMIM: 236000
Disease:  Multiple sclerosis
Disease Ontology: DOID:2377
OMIM: 126200
Orphanet: ORPHA802
Disease:  Primary adrenal insufficiency
Disease:  Rheumatoid arthritis
Disease Ontology: DOID:7148
OMIM: 180300
Disease:  Systemic lupus erythematosus
Description: SLE is a complex autoimmune disease that is characterised by inflammation of various connective tissues, and symptoms include dermatitis, arthritis, inflammation of the kidneys (glomerulonephritis), vasculitis, inflammation of the tissue surrounding the heart, and seizures. It is caused by the production of autoantibodies against widely expressed nuclear, cytoplasmic, and cell surface molecules. Extracellular RNA in the circulation in combination with the presence of autoantibodies potently stimulates interferon production and immune system activation.
Disease Ontology: DOID:9074
OMIM: 152700
Orphanet: ORPHA536


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1. Harton JA, Ting JP. (2000) Class II transactivator: mastering the art of major histocompatibility complex expression. Mol Cell Biol, 20 (17): 6185-94. [PMID:10938095]

2. LeibundGut-Landmann S, Waldburger JM, Krawczyk M, Otten LA, Suter T, Fontana A, Acha-Orbea H, Reith W. (2004) Mini-review: Specificity and expression of CIITA, the master regulator of MHC class II genes. Eur J Immunol, 34 (6): 1513-25. [PMID:15162420]

3. Li L, Yu H, Jiang Y, Deng B, Bai L, Kijlstra A, Yang P. (2016) Genetic Variations of NLR family genes in Behcet's Disease. Sci Rep, 6: 20098. [PMID:26833430]

4. Mach B, Steimle V, Reith W. (1994) MHC class II-deficient combined immunodeficiency: a disease of gene regulation. Immunol Rev, 138: 207-21. [PMID:8070816]

5. Scholl T, Mahanta SK, Strominger JL. (1997) Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5. Proc Natl Acad Sci USA, 94 (12): 6330-4. [PMID:9177217]

6. Tarafdar A, Hopcroft LE, Gallipoli P, Pellicano F, Cassels J, Hair A, Korfi K, Jørgensen HG, Vetrie D, Holyoake TL et al.. (2017) CML cells actively evade host immune surveillance through cytokine-mediated downregulation of MHC-II expression. Blood, 129 (2): 199-208. [PMID:27793879]

7. Yau AC, Piehl F, Olsson T, Holmdahl R. (2017) Effects of C2ta genetic polymorphisms on MHC class II expression and autoimmune diseases. Immunology, 150 (4): 408-417. [PMID:27861821]


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