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FLASH GENE

Symbol

CTLA4

contributors: mct/shn - updated : 15-12-2015

HGNC name	cytotoxic T-lymphocyte-associated protein 4
HGNC id	2505

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

GD5S

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   aberrant expressions of endometrial ID3 and CTLA4 are associated with unexplained repeated implantation failure and recurrent miscarriage

Susceptibility

to celiac disease ( to multiple sclerosis to Graves disease ( to Hashimoto thyroiditis and Addison's disease (PubMed:9398726) to diabetes mellitus ( to thyroid associated orbitopathy to rheumatoid arthritis(RA) to multiple sclerosis to systemic lupus erythematosus( to Addison disease to non-Hodgkin's lymphoma (NHL) to Vogt-Koyanagi-Harada to dilated cardiomyopathy (DCM) to myasthenia gravis ( to hepatitis B virus clearance and persistence (

Variant & Polymorphism SNP , other	exon 3 microsatellite, 106 bp allele conferring susceptibility to Graves disease and to thyroid associated orbitopathy (see also IDDM12)
	49A>G increasing the risk of celiac disease and of multiple sclerosis with secondary progressive form
	allele +49 and CT60 increasing the risk of RA
	strong association of the CTLA4 49A and the 3'-untranslated region (AT)(82) alleles with NHL
	polymorphisms associated with the susceptibility to VKH syndrome(Vogt-Koyanagi-Harada)
	common variant, Thr17Ala, confers susceptibility for DCM, but does not seem to influence the course of the disease 1 year after diagnosis

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology autoimmune   a potential therapeutic target in the prevention of autoimmune endocrine disorders

ANIMAL & CELL MODELS

	lymph nodes and spleens of CTLA4-deficient mice accumulate T cell blasts which infiltrate liver, heart, lung, and pancreas tissue, and amounts of serum immunoglobulin are elevated leading to early lethality (
	CTLA-4(-/-) T cells from CTLA-4(-/-) mice have a diverse and unbiased TCR repertoire (
	specific deficiency of cytotoxic T lymphocyte antigen 4 (CTLA-4) in Tregs results in spontaneous development of systemic lymphoproliferation, fatal T cell-mediated autoimmune disease, and hyperproduction of immunoglobulin E in mice, and it also produces potent tumor immunity (