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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
ASSOCIATED DISORDERS
corresponding disease(s) GD5S
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    immunologyautoimmune 
    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 (