CTLA4 Chromosome 2
Cytotoxic T-lymphocyte associated protein 4
Upload your DNA to see your personal genotypes for variants in CTLA4.
What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|V-set domain containing"
Locus Type
gene with protein product
Location
2q33.2
Ensembl
ENSG00000163599
Associated Conditions (14)
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Inborn genetic diseases
Celiac disease
susceptibility to
3
Hashimoto thyroiditis
Systemic lupus erythematosus
Type 1 diabetes mellitus 12
Inherited Immunodeficiency Diseases
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Immunodeficiency
common variable
1
CTLA4-related disorder
Key Variants
RS1242260236
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Health Risk
RS1286462906
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Health Risk
RS144988077
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Health Risk
RS1553657378
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inborn genetic diseases, Celiac disease
Health Risk
RS1581573640
Conflicting classifications of pathogenicity
Inherited Immunodeficiency Diseases, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inherited Immunodeficiency Diseases
Health Risk
RS1688731180
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Health Risk
RS778114608
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Health Risk
RS1381701157
Likely pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Health Risk
RS1553657429
Likely pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Celiac disease, susceptibility to
Health Risk
RS1581573705
Likely pathogenic
Inherited Immunodeficiency Diseases, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inherited Immunodeficiency Diseases
Health Risk
RS1581573923
Likely pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Health Risk
RS2469719131
Likely pathogenic
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1242260236 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1286462906 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS144988077 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1553657378 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inborn genetic diseases, Celiac disease |
| RS1581573640 | Health Risk | Conflicting classifications of pathogenicity | Inherited Immunodeficiency Diseases, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inherited Immunodeficiency Diseases |
| RS1688731180 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS778114608 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1381701157 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1553657429 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Celiac disease, susceptibility to |
| RS1581573705 | Health Risk | Likely pathogenic | Inherited Immunodeficiency Diseases, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inherited Immunodeficiency Diseases |
| RS1581573923 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719131 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719311 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 1 |
| RS2469719636 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS606231421 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1357409506 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1553657387 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1553657430 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1559591695 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1581571813 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1581571901 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1581573970 | Health Risk | Pathogenic | Celiac disease, susceptibility to, 3 |
| RS1688656690 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1688711686 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1688712720 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1688714312 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1688714490 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1688714703 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1688715336 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1688716836 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1688717281 | Health Risk | Pathogenic | — |
| RS1688729428 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1688730155 | Health Risk | Pathogenic | — |
| RS2105772857 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719282 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719657 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719710 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719729 | Health Risk | Pathogenic | CTLA4-related disorder, CTLA4-related disorder |
| RS2469720798 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS606231417 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inborn genetic diseases, Type 1 diabetes mellitus 12 |
| RS606231418 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS606231419 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS606231420 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1688718864 | Health Risk | Pathogenic/Likely pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inborn genetic diseases, CTLA4-related disorder |
| RS606231422 | Health Risk | Pathogenic/Likely pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS886041906 | Health Risk | Pathogenic/Likely pathogenic | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |