Cytotoxic T Lymphocyte-Associated 4

Alternative Names

CTLA4
CD152
Cytotoxic T Lymphocyte-Associated 4, Soluble Isoform

Length

6,175 bases

No. of Exons

No. of isoforms

Protein Name

Cytotoxic T-lymphocyte protein 4

Molecular Mass

24656 Da

Amino Acid Count

223

Genomic Location

chr2:203,867,786-203,873,960

Gene Map Locus

2q33.2

Description

The CTLA4 protein is a member of the co-stimulatory family. It has homology to CD28 and binds the B7 family of ligands.

Because of its inhibitory effect on T-cell responses, polymorphisms in the CTLA4 gene have been strongly associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NC_000002.12:g.203866366G>A	United Arab Emirates	NC_000002.12:g.203866366G>A		Benign		NG_011502.1:g.3581G>A; NC_000002.12:g.203866366G>A	11571316
NC_000002.12:g.203874196G>A	United Arab Emirates	NC_000002.12:g.203874196G>A	Benign	Benign		NG_011502.1:g.11411G>A; NC_000002.12:g.203874196G>A	3087243	16922
NC_000002.12:g.203876827G>A	United Arab Emirates	NC_000002.12:g.203876827G>A		Benign		NC_000002.12:g.203876827G>A	231727
NM_005214.4:c.49A>G	Lebanon; Tunisia; Unit...	NC_000002.12:g.203867991A>G	Benign, Risk factor	Association	Graves Disease; Type 1 Diabetes Mellitus; Inflammatory Bowel Disease 1	NG_011502.1:g.5206A>G; NM_005214.4:c.49A>G ; NP_005205.2:p.Thr17Ala	231775	16921

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Other Reports

Kuwait

Alfadhli and Nizam (2013) cloned and sequenced the CTLA4 gene from 66 Kuwaiti patients with various autoimmune disorders (SLE, Rheumatoid Arthritis, and Hashimoto’s Thyroiditis), and compared the spliced variants in this gene in these patients from that in 22 healthy controls. Six variants were detected in this population; mCTLA4-672, sCTLA4-562, L-CTLA4-277, ssCTLA4-214, N-CTLA4-292, and K-CTLA4-142bp. The latter two variants were novel variants in this gene. Patients with SLE and Rheumatoid Arthritis showed a reduced frequency of the mCTLA4-672 and sCTLA4-562 variants, while N-CTLA4-292 was found to be reduced in all patients. Alfadhli and Nizam (2013) concluded that the expression pattern of the CTLA4 gene could also be playing a role in autoimmunity.

External Links

http://ghr.nlm.nih.gov/gene/CTLA4 http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTLA4 https://www.genecards.org/cgi-bin/carddisp.pl?gene=ctla4

Contributors

Pratibha Nair: 08.02.2022
Ghazi O. Tadmouri: 03.03.2015
Pratibha Nair: 21.10.2014
Nada Assaf: 18.09.2014

Edit History

Sayeeda Hana: 30.06.2022
Pratibha Nair: 08.02.2022
Pratibha Nair: 11.03.2021
Sayeeda Hana: 13.03.2020
Pratibha Nair: 26.12.2018
Pratibha Nair: 03.11.2014

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