CIITA (MHC class II transactivator)

2000-07-01 Jean-Loup Huret Affiliation

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC

CIITA

LOCATION

16p13.13

LOCUSID

4261

ALIAS

C2TA,CIITAIV,MHC2TA,NLRA

FUSION GENES

Show Gene Fusions

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

t(3;16)(q27;p13)/ BCL6

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

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

Gene ID	Transcript ID	Uniprot
ENSG00000179583	ENST00000324288	A0A0B4J1S1
ENSG00000179583	ENST00000381835	P33076
ENSG00000179583	ENST00000571186	I3L2P7
ENSG00000179583	ENST00000576601	I3L2E5
ENSG00000179583	ENST00000618207	Q29704
ENSG00000179583	ENST00000618327	A0A087X2I7
ENSG00000179583	ENST00000636238	A0A1B0GUQ8
ENSG00000179583	ENST00000637439	A0A1B0GU01
ENSG00000179583	ENST00000644232	A0A2R8YFU9
ENSG00000179583	ENST00000646979	A0A2R8Y7F5

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Antigen processing and presentation	KEGG	ko04612
Primary immunodeficiency	KEGG	ko05340
Antigen processing and presentation	KEGG	hsa04612
Primary immunodeficiency	KEGG	hsa05340
Toxoplasmosis	KEGG	ko05145
Toxoplasmosis	KEGG	hsa05145
Tuberculosis	KEGG	ko05152
Tuberculosis	KEGG	hsa05152
Influenza A	KEGG	ko05164
Influenza A	KEGG	hsa05164
Immune System	REACTOME	R-HSA-168256
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Interferon Signaling	REACTOME	R-HSA-913531
Interferon gamma signaling	REACTOME	R-HSA-877300

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
21368758	2011	MHC class II transactivator CIITA is a recurrent gene fusion partner in lymphoid cancers.	165
15162420	2004	Mini-review: Specificity and expression of CIITA, the master regulator of MHC class II genes.	88
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
12052885	2002	Kinetics of a gamma interferon response: expression and assembly of CIITA promoter IV and inhibition by methylation.	48
20634887	2010	Polycomb target genes are silenced in multiple myeloma.	45
11777970	2002	Activated human T cells accomplish MHC class II expression through T cell-specific occupation of class II transactivator promoter III.	38
11953317	2002	Interferon-gamma-induced chromatin remodeling at the CIITA locus is BRG1 dependent.	38
18349319	2008	Epigenetic control of MHC class II expression in tumor-associated macrophages by decoy receptor 3.	38
18593762	2008	Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency.	37

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