CTLA4 cytotoxic T-lymphocyte associated protein 4
Gene ID: 1493, updated on 12-Nov-2024Gene type: protein coding
Also known as: CD; GSE; GRD4; ALPS5; CD152; CTLA-4; IDDM12; CELIAC3
- See all available tests in GTR for this gene
- Go to complete Gene record for CTLA4
- Go to Variation Viewer for CTLA4 variants
Summary
This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies two new risk loci for Graves' disease. GeneReviews: Not available | |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | See labs |
| Celiac disease, susceptibility to, 3 | See labs |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. GeneReviews: Not available | |
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. GeneReviews: Not available | |
| Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. GeneReviews: Not available | |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. GeneReviews: Not available | |
| Hashimoto thyroiditis | See labs |
| Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. GeneReviews: Not available | |
| Multiple common variants for celiac disease influencing immune gene expression. GeneReviews: Not available | |
| Novel associations for hypothyroidism include known autoimmune risk loci. GeneReviews: Not available | |
| REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. GeneReviews: Not available | |
| Systemic lupus erythematosus | See labs |
| Type 1 diabetes mellitus 12 | See labs |
Genomic context
- Location:
- 2q33.2
- Sequence:
- Chromosome: 2; NC_000002.12 (203867771..203873965)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CTLA4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CTLA4 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.