Search for a gene
CTLA4 - cytotoxic T-lymphocyte associated protein 4
- Synonym(s) : CD, CD152, CTLA-4, GSE
- Previous symbols and names : CELIAC3, IDDM12, celiac disease 3, insulin-dependent diabetes mellitus 12
- Type : gene with protein product
- Chromosomal location : 2q33.2
- OMIM: 123890
- HGNC: 2505
- UniProtKB: P16410
- Genatlas: CTLA4
- Ensembl: ENSG00000163599
- IUPHAR-DB: -
- Reactome: P16410
- LOVD: CTLA4
Diseases list
- Disease-causing germline mutation(s) in Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
ORPHA:436159 
- Part of a fusion gene in Classic mycosis fungoides
ORPHA:2584 - Part of a fusion gene in Sézary syndrome
ORPHA:3162 - Major susceptibility factor in Adult-onset myasthenia gravis
ORPHA:391490 - Major susceptibility factor in Granulomatosis with polyangiitis
ORPHA:900 - Major susceptibility factor in Systemic lupus erythematosus
ORPHA:536
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.