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Aliases for CTLA4 Gene

Aliases for CTLA4 Gene

  • Cytotoxic T-Lymphocyte-Associated Protein 4 2 3
  • 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

  • CELIAC3
  • 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 hashimoto thyroiditis and diabetes mellitus, insulin-dependent, 12. Among its related pathways are Immune System and TCR Signaling (Qiagen). 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

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

Genomic Location for CTLA4 Gene

Chromosome:
2
Start:
203,867,786 bp from pter
End:
203,873,960 bp from pter
Size:
6,175 bases
Orientation:
Plus strand

Genomic View for CTLA4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P16410-CTLA4_HUMAN
    Recommended name:
    Cytotoxic T-lymphocyte protein 4
    Protein Accession:
    P16410
    Secondary Accessions:
    • A0N1S0
    • E9PDH0
    • O95653
    • Q0PP65
    • Q52MC1
    • Q53TD5
    • Q5S005
    • Q8WXJ1
    • Q96P43
    • Q9UKN9

    Protein attributes for CTLA4 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

P16410

UniProtKB/Swiss-Prot:

CTLA4_HUMAN :
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
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.

Gene Ontology (GO) - Molecular Function for CTLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 7807015
genes like me logo Genes that share ontologies with CTLA4: view
genes like me logo Genes that share phenotypes with CTLA4: view

Animal Models for CTLA4 Gene

MGI Knock Outs for CTLA4:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CTLA4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Jensen Localization Image for CTLA4 Gene COMPARTMENTS Subcellular localization image for CTLA4 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 4
cytosol 2
extracellular 2
nucleus 2
cytoskeleton 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CTLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 15814706
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 3220103
GO:0009897 external side of plasma membrane IDA 18641304
GO:0016020 membrane --
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

Pathways by source for CTLA4 Gene

PCR Array Products

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:0006955 immune response TAS 3220103
GO:0006974 cellular response to DNA damage stimulus IMP 17875758
GO:0030889 negative regulation of B cell proliferation IMP 17875758
GO:0031295 T cell costimulation TAS --
genes like me logo Genes that share ontologies with CTLA4: view

Drugs & Compounds for CTLA4 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Prednisone Approved Pharma 1208
Ipilimumab Approved Pharma Antibody, immunotherapy, inhibitor, Target Therapeutic Antibodies, Immunotherapies, Immunomodulatory agents 0
Abatacept Approved Pharma 130
Dexamethasone Approved, Investigational Pharma Agonist 1806
Bortezomib Approved, Experimental, Investigational Pharma Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 758

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

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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CTLA4

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CTLA4 Gene

GeneLoc Exon Structure for
CTLA4
ECgene alternative splicing isoforms for
CTLA4

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

P16410-CTLA4_HUMAN
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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia CTLA4 35
  • 85.52 (n)
  • 85.07 (a)
CTLA-4 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTLA4 35
  • 88.19 (n)
  • 87.44 (a)
CD152 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctla4 35
  • 79.97 (n)
  • 74.89 (a)
Ctla4 16
Ctla4 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CTLA4 35
  • 99.7 (n)
  • 100 (a)
CTLA4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctla4 35
  • 80.87 (n)
  • 75.78 (a)
oppossum
(Monodelphis domestica)
Mammalia CTLA4 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTLA4 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTLA4 35
  • 60.85 (n)
  • 49.23 (a)
CTLA4 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 34 (a)
OneToMany
-- 36
  • 31 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ctla4 35
  • 51.87 (n)
  • 42.25 (a)
zebrafish
(Danio rerio)
Actinopterygii cd28 36
  • 21 (a)
OneToOne
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

ENSEMBL:
Gene Tree for CTLA4 (if available)
TreeFam:
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

P16410-CTLA4_HUMAN
Genetic variations in CTLA4 are associated with susceptibility to several autoimmune disorders. They influence responsiveness to hepatitis B virus (HBV) infection [MIM:610424]

Sequence variations from dbSNP and Humsavar for CTLA4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs231721 -- 203,874,002(+) GTGTT(C/T)AAATT downstream-variant-500B
rs231771 -- 203,866,517(+) AATTT(A/T)AAAAA upstream-variant-2KB
rs231772 -- 203,866,830(+) CTGTT(A/G)CAACT upstream-variant-2KB
rs231773 -- 203,866,949(+) CCCAT(A/G)AATGT upstream-variant-2KB
rs231774 -- 203,867,500(+) TGGAG(A/T)TGTCA upstream-variant-2KB

Variation tolerance for CTLA4 Gene

Residual Variation Intolerance Score: 44.55% 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

HapMap Linkage Disequilibrium report
CTLA4
Human Gene Mutation Database (HGMD)
CTLA4

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
hashimoto thyroiditis
  • hashimoto disease
diabetes mellitus, insulin-dependent, 12
  • insulin-dependent diabetes mellitus 12
celiac disease 3
  • celiac disease, susceptibility to, 3
autoimmune lymphoproliferative syndrome, type v
  • alps5
systemic lupus erythematosus
  • lupus nephritis
- elite association
Search CTLA4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CTLA4_HUMAN
  • 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.
  • 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)
CTLA4
Human Genome Epidemiology (HuGE) Navigator
CTLA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTLA4
genes like me logo Genes that share disorders with CTLA4: view

No data available for Genatlas for CTLA4 Gene

Publications for CTLA4 Gene

  1. Belatacept in clinical and experimental transplantation - progress and promise. (PMID: 20502720) Rangel E.B. (Drugs Today 2010) 23 67
  2. 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) 23 67
  3. 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) 23 67
  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) 23 67
  5. Structure-Function analysis of the CTLA-4 interaction with PP2A. (PMID: 19405949) Teft W.A. … Madrenas J. (BMC Immunol. 2009) 23 67

Products for CTLA4 Gene

Sources for CTLA4 Gene

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