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: 2 Strand: +
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.
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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.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
BC070162 - Homo sapiens cytotoxic T-lymphocyte-associated protein 4, mRNA (cDNA clone MGC:88142 IMAGE:30417685), complete cds. AF414120 - Homo sapiens CTLA4 (CTLA4) mRNA, complete cds. LQ882888 - Sequence 37 from Patent WO2018160841. AK313732 - Homo sapiens cDNA, FLJ94332, highly similar to Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), mRNA. BC069566 - Homo sapiens cytotoxic T-lymphocyte-associated protein 4, mRNA (cDNA clone MGC:97034 IMAGE:7262243), complete cds. BC074893 - Homo sapiens cytotoxic T-lymphocyte-associated protein 4, mRNA (cDNA clone MGC:103865 IMAGE:30915247), complete cds. BC074842 - Homo sapiens cytotoxic T-lymphocyte-associated protein 4, mRNA (cDNA clone MGC:104099 IMAGE:30915552), complete cds. AB590653 - Synthetic construct DNA, clone: pFN21AB6904, Homo sapiens CTLA4 gene for cytotoxic T-lymphocyte-associated protein 4, without stop codon, in Flexi system. KJ890998 - Synthetic construct Homo sapiens clone ccsbBroadEn_00392 CTLA4 gene, encodes complete protein. KR712092 - Synthetic construct Homo sapiens clone CCSBHm_00035703 CTLA4 (CTLA4) mRNA, encodes complete protein. AF486806 - Homo sapiens CTLA4 mRNA, partial cds. AY209009 - Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4) mRNA, complete cds. AY792514 - Homo sapiens ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4 (CTLA4) mRNA, complete cds. AY999702 - Homo sapiens cytotoxic T lymphocyte associated antigen 4 short spliced form mRNA, complete cds, alternatively spliced. DQ785106 - Homo sapiens CD152 isoform (CTLA4) mRNA, partial cds, alternatively spliced. L15006 - Homo sapiens Ig superfamily CTLA-4 mRNA, complete cds. LQ927248 - Sequence 25 from Patent WO2018191660. MP216602 - Sequence 26 from Patent WO2019161400. MP584538 - Sequence 37 from Patent WO2020081767. JD165112 - Sequence 146136 from Patent EP1572962. JD254540 - Sequence 235564 from Patent EP1572962. U90273 - Homo sapiens CTLA-4 mRNA, partial cds. JD171964 - Sequence 152988 from Patent EP1572962. JD313936 - Sequence 294960 from Patent EP1572962. JD410559 - Sequence 391583 from Patent EP1572962. JD533758 - Sequence 514782 from Patent EP1572962. JD314154 - Sequence 295178 from Patent EP1572962. JD181456 - Sequence 162480 from Patent EP1572962. JD119576 - Sequence 100600 from Patent EP1572962. JD102564 - Sequence 83588 from Patent EP1572962. JD074755 - Sequence 55779 from Patent EP1572962. JD302934 - Sequence 283958 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04514 - Cell adhesion molecules (CAMs) hsa04660 - T cell receptor signaling pathway hsa05320 - Autoimmune thyroid disease
BioCarta from NCI Cancer Genome Anatomy Project h_ctla4Pathway - The Co-Stimulatory Signal During T-cell Activation