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Aliases for CTLA4 Gene

Aliases for CTLA4 Gene

  • Cytotoxic T-Lymphocyte Associated Protein 4 2 3
  • Cytotoxic T-Lymphocyte-Associated Protein 4 3 5
  • Insulin-Dependent Diabetes Mellitus 12 2 3
  • Celiac Disease 3 2 3
  • CTLA-4 3 4
  • CD152 3 4
  • Ligand And Transmembrane Spliced Cytotoxic T Lymphocyte Associated Antigen 4 3
  • Cytotoxic T Lymphocyte Associated Antigen 4 Short Spliced Form 3
  • Cytotoxic T-Lymphocyte-Associated Serine Esterase-4 3
  • Cytotoxic T-Lymphocyte-Associated Antigen 4 4
  • CD152 Isoform 3
  • CD152 Antigen 4
  • CELIAC3 3
  • IDDM12 3
  • ALPS5 3
  • GRD4 3
  • GSE 3
  • CD 3

External Ids for CTLA4 Gene

Previous HGNC Symbols for CTLA4 Gene

  • IDDM12

Previous GeneCards Identifiers for CTLA4 Gene

  • GC02P202949
  • GC02P203457
  • GC02P204696
  • GC02P204935
  • GC02P204558
  • GC02P204440
  • GC02P196580

Summaries for CTLA4 Gene

Entrez Gene Summary for CTLA4 Gene

  • 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]

GeneCards Summary for CTLA4 Gene

CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) is a Protein Coding gene. Diseases associated with CTLA4 include Autoimmune Lymphoproliferative Syndrome, Type V and Celiac Disease 3. Among its related pathways are CTLA4 Signaling and Allograft rejection. An important paralog of this gene is CD28.

UniProtKB/Swiss-Prot for CTLA4 Gene

  • 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.

Gene Wiki entry for CTLA4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTLA4 Gene

Genomics for CTLA4 Gene

Regulatory Elements for CTLA4 Gene

Enhancers for CTLA4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CTLA4 on UCSC Golden Path with GeneCards custom track

Promoters for CTLA4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CTLA4 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CTLA4 gene promoter:

Genomic Location for CTLA4 Gene

203,867,786 bp from pter
203,873,960 bp from pter
6,175 bases
Plus strand

Genomic View for CTLA4 Gene

Genes around CTLA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTLA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTLA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTLA4 Gene

Proteins for CTLA4 Gene

  • Protein details for CTLA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytotoxic T-lymphocyte protein 4
    Protein Accession:
    Secondary Accessions:
    • A0N1S0
    • E9PDH0
    • O95653
    • Q0PP65
    • Q52MC1
    • Q53TD5
    • Q5S005
    • Q8WXJ1
    • Q96P43
    • Q9UKN9

    Protein attributes for CTLA4 Gene

    223 amino acids
    Molecular mass:
    24656 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Binds to CD80/B7-1 and CD86/B7.2.

    Three dimensional structures from OCA and Proteopedia for CTLA4 Gene

    Alternative splice isoforms for CTLA4 Gene


neXtProt entry for CTLA4 Gene

Proteomics data for CTLA4 Gene at MOPED

Post-translational modifications for CTLA4 Gene

  • N-glycosylation is important for dimerization.
  • Phosphorylation at Tyr-201 prevents binding to the AP-2 adapter complex, blocks endocytosis, and leads to retention of CTLA4 on the cell surface.
  • Glycosylation at Asn 113 and Asn 145
  • Modification sites at PhosphoSitePlus

Other Protein References for CTLA4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CTLA4 (CTLA-4)

No data available for DME Specific Peptides for CTLA4 Gene

Domains & Families for CTLA4 Gene

Gene Families for CTLA4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
genes like me logo Genes that share domains with CTLA4: view

Function for CTLA4 Gene

Molecular function for CTLA4 Gene

GENATLAS Biochemistry:
cytotoxic T-lymphocyte-associated granule serine protease 4,B7 costimulatory protein receptor for CD80,CD86,negative regulatory T cell presenting costimulatory molecule,member of the immunoglobulin superfamily,with an association of the exon 3 microsatellite,106bp allele with autoimmune disorders (conferring susceptibility to Graves disease and to thyroid associated orbitopathy but not to systemic lupus erythematosus),susceptibility gene for the celiac disease and for multiple sclerosis
UniProtKB/Swiss-Prot Function:
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.
genes like me logo Genes that share phenotypes with CTLA4: view

Human Phenotype Ontology for CTLA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTLA4 Gene

MGI Knock Outs for CTLA4:

Animal Model Products

  • Taconic Biosciences Mouse Models for CTLA4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CTLA4 Gene

Localization for CTLA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTLA4 Gene

Cell membrane; Single-pass type I membrane protein. Note=Exists primarily an intracellular antigen whose surface expression is tightly regulated by restricted trafficking to the cell surface and rapid internalisation;.

Subcellular locations from

Jensen Localization Image for CTLA4 Gene COMPARTMENTS Subcellular localization image for CTLA4 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
cytosol 2
extracellular 2
nucleus 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CTLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IDA 18641304
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CTLA4: view

Pathways & Interactions for CTLA4 Gene

genes like me logo Genes that share pathways with CTLA4: view

SIGNOR curated interactions for CTLA4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CTLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0006974 cellular response to DNA damage stimulus IMP 17875758
GO:0030889 negative regulation of B cell proliferation IMP 17875758
GO:0050853 B cell receptor signaling pathway IMP 17875758
genes like me logo Genes that share ontologies with CTLA4: view

Drugs & Compounds for CTLA4 Gene

(52) Drugs for CTLA4 Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, FDA Approved Drugs, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Prednisone Approved Pharma 1286
Ipilimumab Approved Pharma Antibody, immunotherapy, inhibitor, Target Therapeutic Antibodies, Immunotherapies, Immunomodulatory agents 0
Abatacept Approved Pharma 185
Dexamethasone Approved, Investigational Pharma Agonist 1950
Bortezomib Approved, Experimental, Investigational Pharma Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 776

(19) Additional Compounds for CTLA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTLA4: view

Transcripts for CTLA4 Gene

Unigene Clusters for CTLA4 Gene

Cytotoxic T-lymphocyte-associated protein 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CTLA4 Gene

No ASD Table

Relevant External Links for CTLA4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CTLA4 Gene

mRNA expression in normal human tissues for CTLA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTLA4 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x8.3), Whole Blood (x6.5), Spleen (x5.4), and Lung (x4.3).

SOURCE GeneReport for Unigene cluster for CTLA4 Gene Hs.247824

mRNA Expression by UniProt/SwissProt for CTLA4 Gene

Tissue specificity: Widely expressed with highest levels in lymphoid tissues. Detected in activated T-cells where expression levels are 30- to 50-fold less than CD28, the stimulatory coreceptor, on the cell surface following activation.
genes like me logo Genes that share expression patterns with CTLA4: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CTLA4 Gene

Orthologs for CTLA4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CTLA4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CTLA4 35
  • 85.52 (n)
  • 85.07 (a)
CTLA-4 36
  • 85 (a)
(Canis familiaris)
Mammalia CTLA4 35
  • 88.19 (n)
  • 87.44 (a)
CD152 36
  • 87 (a)
(Mus musculus)
Mammalia Ctla4 35
  • 79.97 (n)
  • 74.89 (a)
Ctla4 16
Ctla4 36
  • 75 (a)
(Pan troglodytes)
Mammalia CTLA4 35
  • 99.7 (n)
  • 100 (a)
CTLA4 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Ctla4 35
  • 80.87 (n)
  • 75.78 (a)
(Monodelphis domestica)
Mammalia CTLA4 36
  • 52 (a)
(Ornithorhynchus anatinus)
Mammalia CTLA4 36
  • 60 (a)
(Gallus gallus)
Aves CTLA4 35
  • 60.85 (n)
  • 49.23 (a)
CTLA4 36
  • 46 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 34 (a)
-- 36
  • 31 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ctla4 35
  • 51.87 (n)
  • 42.25 (a)
(Danio rerio)
Actinopterygii cd28 36
  • 21 (a)
Species with no ortholog for CTLA4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CTLA4 Gene

Gene Tree for CTLA4 (if available)
Gene Tree for CTLA4 (if available)

Paralogs for CTLA4 Gene

Paralogs for CTLA4 Gene

genes like me logo Genes that share paralogs with CTLA4: view

Variants for CTLA4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CTLA4 Gene

Genetic variations in CTLA4 are associated with susceptibility to several autoimmune disorders (PubMed:18595775, PubMed:12724780, PubMed:10189842, PubMed:10924276, PubMed:15138458, PubMed:15657618, PubMed:15688186, PubMed:25329329, PubMed:25213377). They influence responsiveness to hepatitis B virus (HBV) infection [MIM:610424] (PubMed:15452244).

Sequence variations from dbSNP and Humsavar for CTLA4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs231775 - 203,867,991(+) TGGCT(A/G/T)CCAGG nc-transcript-variant, reference, missense
VAR_072681 Autoimmune lymphoproliferative syndrome 5 (ALPS5)
rs733618 -- 203,866,221(-) GACAG(A/G)CAGCT upstream-variant-2KB
rs733619 -- 203,866,082(-) ATTGA(C/G)AACAG upstream-variant-2KB
rs3087241 -- 203,866,168(+) TACAT(A/G)ATACT upstream-variant-2KB

Variation tolerance for CTLA4 Gene

Residual Variation Intolerance Score: 44.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTLA4 Gene

Human Gene Mutation Database (HGMD)

No data available for Structural Variations from Database of Genomic Variants (DGV) for CTLA4 Gene

Disorders for CTLA4 Gene

MalaCards: The human disease database

(61) MalaCards diseases for CTLA4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome, type v
  • autoimmune lymphoproliferative syndrome type v
celiac disease 3
  • celiac disease, susceptibility to, 3
hashimoto thyroiditis
  • autoimmune thyroiditis
diabetes mellitus, insulin-dependent, 12
  • insulin-dependent diabetes mellitus 12
systemic lupus erythematosus
  • lupus nephritis
- elite association - COSMIC cancer census association via MalaCards
Search CTLA4 in MalaCards View complete list of genes associated with diseases


  • Autoimmune lymphoproliferative syndrome 5 (ALPS5) [MIM:616100]: An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood. {ECO:0000269 PubMed:25213377, ECO:0000269 PubMed:25329329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Celiac disease 3 (CELIAC3) [MIM:609755]: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. {ECO:0000269 PubMed:10189842, ECO:0000269 PubMed:15657618}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Diabetes mellitus, insulin-dependent, 12 (IDDM12) [MIM:601388]: 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. {ECO:0000269 PubMed:9259273}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Note=Genetic variations in CTLA4 may influence susceptibility to Graves disease, an autoimmune disorder associated with overactivity of the thyroid gland and hyperthyroidism. {ECO:0000269 PubMed:10924276}.
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269 PubMed:15138458, ECO:0000269 PubMed:15688186}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CTLA4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CTLA4: view

No data available for Genatlas for CTLA4 Gene

Publications for CTLA4 Gene

  1. A common CTLA4 haplotype associated with coeliac disease. (PMID: 15657618) Hunt K.A. … van Heel D.A. (Eur. J. Hum. Genet. 2005) 3 4 48 67
  2. Functional polymorphism of cytotoxic T-lymphocyte antigen 4 and nasopharyngeal carcinoma susceptibility in a Chinese population. (PMID: 19922464) Xiao M. … Tang J. (Int. J. Immunogenet. 2010) 3 23
  3. Abnormal CTLA-4 function in T cells from patients with systemic lupus erythematosus. (PMID: 19950182) Jury E.C. … Ehrenstein M.R. (Eur. J. Immunol. 2010) 3 23
  4. Genotype analysis of polymorphisms in autoimmune susceptibility genes, CTLA-4 and PTPN22, in an acute anterior uveitis cohort. (PMID: 19180256) Martin T.M. … Wallace G.R. (Mol. Vis. 2009) 3 23
  5. Combination of CTLA-4 and TGFbeta1 gene polymorphisms associated with dengue hemorrhagic fever and virus load in a dengue-2 outbreak. (PMID: 19269255) Chen R.F. … Yang K.D. (Clin. Immunol. 2009) 3 23

Products for CTLA4 Gene

Sources for CTLA4 Gene