Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
Home A service of the U.S. National Library of Medicine®
Printer-friendly version


The information on this page was automatically extracted from online scientific databases.

What is the official name of the CTLA4 gene?

The official name of this gene is “cytotoxic T-lymphocyte-associated protein 4.”

CTLA4 is the gene's official symbol. The CTLA4 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CTLA4 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProt (CTLA4_HUMAN)This link leads to a site outside Genetics Home Reference.:

Inhibitory receptor acting as a major negative regulator of T-cell responses. 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.

How are changes in the CTLA4 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the CTLA4 gene:
UniProt (CTLA4_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the CTLA4 gene's known or predicted involvement in human disease.

Genetic variations in CTLA4 may influence susceptibility to Graves disease, an autoimmune disorder associated with overactivity of the thyroid gland and hyperthyroidism.

Diabetes mellitus, insulin-dependent, 12 (IDDM12): A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CTLA4 gene.
  • Celiac disease 3
  • Diabetes mellitus, insulin-dependent, 12
  • Hashimoto thyroiditis
  • Systemic lupus erythematosus
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the CTLA4 gene and its association with health conditions.

Where is the CTLA4 gene located?

Cytogenetic Location: 2q33

Molecular Location on chromosome 2: base pairs 203,867,788 to 203,873,960

The CTLA4 gene is located on the long (q) arm of chromosome 2 at position 33.

The CTLA4 gene is located on the long (q) arm of chromosome 2 at position 33.

More precisely, the CTLA4 gene is located from base pair 203,867,788 to base pair 203,873,960 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CTLA4?

You and your healthcare professional may find the following resources about CTLA4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CTLA4 gene or gene products?

  • ALPS5
  • CD
  • CD152
  • CTLA-4
  • GRD4
  • GSE
  • IDDM12

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CTLA4?


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Published: November 23, 2015