CTLA4

Curated reports relevant to this gene

• Autoimmune Disease

  • A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).

    • ClinGen rates the link definitive
    • 3 GenCC submitters rate it definitive or strong

• Autoimmune Lymphoproliferative Syndrome (ALPS)

  • Autoimmune lymphoproliferative syndrome

    Chronic lymph node and spleen enlargement, autoimmune cytopenias and raised double-negative T cells caused by changes in FAS, FASLG, CASP10 and related apoptosis genes.

    • ClinGen rates the link definitive
    • 3 GenCC submitters rate it definitive or strong

    ▶Actionability

    Diagnosis allows sirolimus or other immunosuppression for cytopenias, avoidance of unnecessary splenectomy, lymphoma vigilance and family testing.

• IPEX Syndrome and Other Tregopathies

  • CTLA4 haploinsufficiencyAutosomal dominant

    Autoimmunity, lymphoproliferation, low antibodies and gut or lung inflammation caused by a single changed copy of CTLA4, with reduced penetrance.

    • ClinGen rates the link definitive
    • 3 GenCC submitters rate it definitive or strong

    ▶Actionability

    Abatacept or sirolimus can control disease, and relatives can be offered testing.

Broader groupings

• Other Inborn Errors of Immunity

  • Inborn error of immunity

    One of 114 genes linked to it

    Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

    • ClinGen rates the link definitive
    • 3 GenCC submitters rate it definitive or strong

How CTLA4 is laid out

Exons make up 2 kb of the gene's 6.2 kb; 672 of those bases code for the protein.

Sequencing CTLA4

Variants with a page (15)

The CTLA4 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

See all 15 CTLA4 variants →

ClinVar pathogenic variants (51)

The CTLA4 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

• Pathogenic 33
• Likely pathogenic 18

See all 51 with every other CTLA4 variant in ClinVar → (opens in a new tab)

Genes linked to the same conditions

• CASP10caspase 10Shares 3 conditions
• CASP8caspase 8Shares 3 conditions
• FASFas cell surface death receptorShares 3 conditions
• FASLGFas ligandShares 3 conditions
• KRASKRas proto-oncogene, GTPaseShares 3 conditions
• PRKCDprotein kinase C deltaShares 3 conditions
• C1QAcomplement C1q A chainShares 2 conditions
• STAT1signal transducer and activator of transcription 1Shares 2 conditions
• STAT3signal transducer and activator of transcription 3Shares 2 conditions
• TREX1three prime repair exonuclease 1Shares 2 conditions
• ADARadenosine deaminase RNA specificShares 1 condition
• AICDAactivation induced cytidine deaminaseShares 1 condition

Traits linked to CTLA4

The Human Phenotype Ontology lists these as features of the rare conditions CTLA4 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.17-8666dff2.

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