CTLA4

Chr 2q33.2

cytotoxic T-lymphocyte associated protein 4

Aliases:: CD152, CD, GSE, CTLA-4
MANE:: ENST00000648405.2

OMIM: 123890 ↗NCBI: 1493 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CTLA4 · P16410

v62025-08-01

Predicted Aligned Error matrix for CTLA4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.1/ 100

Confident

223 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)19%
Low(50–70)23%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal epithelial barrier disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Infantile enterocolitis & monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intestinal failure or congenital diarrhoea
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial Meniere Disease

Disease associations (Open Targets)

autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
0.80
Hashimoto thyroiditis
0.67
systemic lupus erythematosus
0.62
melanoma
0.61
non-small cell lung carcinoma
0.61
hepatocellular carcinoma
0.61
rheumatoid arthritis
0.60
hypothyroidism
0.59
type 1 diabetes mellitus
0.59
Graves disease
0.58

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytotoxic T-lymphocyte protein 4

Inhibitory receptor acting as a major negative regulator of T-cell responses (PubMed:11279501, PubMed:11279502, PubMed:16551244, PubMed:1714933, PubMed:18641304, PubMed:28484017). Acts as a decoy receptor: the affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28 (PubMed:11279501, PubMed:11279502, PubMed:16551244, PubMed:1714933, PubMed:28484017)

Curated MONDO disease pages that list CTLA4 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with CTLA4