Description: Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 2, mRNA. RefSeq Summary (NM_001037631): 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]. Transcript (Including UTRs) Position: hg19 chr2:204,732,511-204,738,683 Size: 6,173 Total Exon Count: 3 Strand: + Coding Region Position: hg19 chr2:204,732,666-204,737,498 Size: 4,833 Coding Exon Count: 3
Addison's disease Blomhoff, A. et al. 2004, Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease., The Journal of clinical endocrinology and metabolism. 2004 Jul;89(7):3474-6.
[PubMed 15240634]
This finding suggests that polymorphisms in CTLA4 confer general risk to develop autoimmunity and identifies a potential therapeutic target in the prevention of autoimmune endocrine disorders.
allogeneic stem cell transplantation Patrizia Piccioli , et al. Annals of hematology 2009 Dec, CTLA-4 +49A>G polymorphism of recipients of HLA-matched sibling allogeneic stem cell transplantation is associated with survival and relapse incidence., Annals of hematology 2009 Dec.
[PubMed 20020126]
anemia; thrombocytopenic purpura, idiopathic Pavkovic, M. et al. 2003, CTLA-4 exon 1 polymorphism in patients with autoimmune blood disorders., American journal of hematology. 2003 Feb;72(2):147-9.
[PubMed 12555221]
The obtained data indicate that the G allele of CTLA-4 predisposes to the development of AIHA, particularly among patients with CLL.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on P16410-4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.