Cytotoxic T Lymphocyte-Associated 4

Alternative Names

  • CTLA4
  • CD152
  • Cytotoxic T Lymphocyte-Associated 4, Soluble Isoform
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OMIM Number

123890

NCBI Gene ID

2505

Uniprot ID

P16410

Length

6,175 bases

No. of Exons

4

No. of isoforms

5

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000002.12:g.203866366G>AUnited Arab EmiratesNC_000002.12:g.203866366G>ABenignNG_011502.1:g.3581G>A; NC_000002.12:g.203866366G>A11571316
NC_000002.12:g.203874196G>AUnited Arab EmiratesNC_000002.12:g.203874196G>ABenignBenignNG_011502.1:g.11411G>A; NC_000002.12:g.203874196G>A308724316922
NC_000002.12:g.203876827G>AUnited Arab EmiratesNC_000002.12:g.203876827G>ABenignNC_000002.12:g.203876827G>A231727
NM_005214.4:c.49A>GLebanon; Tunisia; Unit...NC_000002.12:g.203867991A>GBenign, Risk factorAssociationGraves Disease; Type 1 Diabetes Mellitus; Inflammatory Bowel Disease 1NG_011502.1:g.5206A>G; NM_005214.4:c.49A>G ; NP_005205.2:p.Thr17Ala23177516921

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.

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