CIITA | NOD-like receptor family | IUPHAR Guide to IMMUNOPHARMACOLOGY

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CIITA

Target id: 1767

Nomenclature: CIITA

Family: NOD-like receptor family

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

   GtoImmuPdb view: ON :     CIITA has curated data in GtoImmuPdb

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 1130 16p13 CIITA class II major histocompatibility complex transactivator
Mouse - 115 16 5.65 cM Ciita class II transactivator
Rat - - 10 q11 Ciita class II, major histocompatibility complex, transactivator
Previous and Unofficial Names
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, major histocompatibility complex, transactivator | class II
Database Links
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
UniProtKB
Wikipedia
Physiological Functions Comments
Transactivator of class II major histocompatibility complex genes.
Clinically-Relevant Mutations and Pathophysiology
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
Disease Ontology: DOID:9074
OMIM: 152700
Orphanet: ORPHA536

References

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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. U.S.A., 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]

Contributors

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How to cite this page

Clare Bryant, Tom Monie.
NOD-like receptor family: CIITA. Last modified on 13/04/2018. Accessed on 16/01/2019. IUPHAR/BPS Guide to PHARMACOLOGY, http://guidetoimmunopharmacology.org/GRAC/ObjectDisplayForward?objectId=1767.