Aliases for CTLA4 Gene
Aliases for CTLA4 Gene
- Cytotoxic T-Lymphocyte Associated Protein 4 2 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
- Cytotoxic T-Lymphocyte Protein 4 3
External Ids for CTLA4 Gene
- HGNC: 2505
- Entrez Gene: 1493
- Ensembl: ENSG00000163599
- OMIM: 123890
- UniProtKB: P16410
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
-
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 T-Cell Receptor and Co-stimulatory Signaling and Innate Immune System. 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.
Additional gene information for CTLA4 Gene
- Monarch Initiative
- Search for CTLA4 at DataMed
- Search for CTLA4 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTLA4 Gene
Genomics for CTLA4 Gene
GeneHancer (GH) Regulatory Elements for CTLA4 Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH02I203867 | Promoter/Enhancer | 0.7 | EPDnew dbSUPER | 550.8 | +0.1 | 60 | 0.1 | CTLA4 ICOS | ||
GH02I203704 | Promoter/Enhancer | 1.9 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 32.4 | -159.7 | -159723 | 7.8 | FOXA2 BACH1 EBF1 CEBPG BMI1 BATF KLF5 IRF4 RELA POLR2A | CD28 ICOS CTLA4 RNU6-474P NBEAL1 KRT18P39 LOC100419679 | |
GH02I203936 | Promoter/Enhancer | 1.6 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 12.9 | +70.7 | 70737 | 4.6 | POLR2A MLLT1 | ICOS CD28 CTLA4 LOC101927840 | |
GH02I203996 | Enhancer | 0.5 | FANTOM5 | 30.7 | +129.1 | 129070 | 0.2 | CREB1 ATF7 ATF2 | CTLA4 ICOS CD28 GC02P204020 LOC101927840 | |
GH02I203737 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE dbSUPER | 10.1 | -126.4 | -126370 | 7.2 | GATA3 SOX6 ZSCAN4 CEBPB | CD28 KRT18P39 ICOS RNU6-474P RAPH1 CTLA4 |
Regulatory Element Products
Genomic Locations for CTLA4 Gene
- chr2:203,867,786-203,873,960
- (GRCh38/hg38)
- Size:
- 6,175 bases
- Orientation:
- Plus strand
- chr2:204,732,509-204,738,683
- (GRCh37/hg19)
Genomic View for CTLA4 Gene
- Cytogenetic band:
-
- 2q33.2 by Ensembl
- 2q33.2 by Entrez Gene
- 2q33.2 by HGNC


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
- 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 (PubMed:11279501, PubMed:11279502, Ref.23, PubMed:21156796, PubMed:28484017). Binds to CD80/B7-1 and CD86/B7.2 (PubMed:11279501, PubMed:11279502, PubMed:28484017). Interacts with ICOSLG (PubMed:28484017).
- Miscellaneous:
-
- The therapeutic antibody Ipilimumab competes for the binding site of the endogenous ligands CD80/B7-1, CD86/B7-2 and ICOSLG.
Three dimensional structures from OCA and Proteopedia for CTLA4 Gene
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 posLast=113113 and posLast=145145
Other Protein References for CTLA4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CTLA4 (CTLA-4)
- Cell Signaling Technology (CST) Antibodies for CTLA4 (CTLA-4)
-
Custom Antibody ServicesOriGene Antibodies for CTLA4
- Novus Biologicals Antibodies for CTLA4
-
Abcam antibodies for CTLA4
-
Cloud-Clone Corp. Antibodies for CTLA4
- Invitrogen Antibodies for CTLA4
- GeneTex CTLA4 antibody for CTLA4
-
CrownBio Antibodies for CTLA4
-
Custom Antibody ServicesProSci Antibodies for CTLA4
- cytotoxic T-lymphocyte associated protein 4 [RF16013-HRP]
- cytotoxic T-lymphocyte associated protein 4 [RF16013]
- cytotoxic T-lymphocyte associated protein 4 [RF16012]
- cytotoxic T-lymphocyte associated protein 4 [RF16011-HRP]
- cytotoxic T-lymphocyte associated protein 4 [RF16011]
- cytotoxic T-lymphocyte-associated protein 4 [76-844]
-
Santa Cruz Biotechnology (SCBT) Antibodies for CTLA4
- Sino Biological Antibodies for CTLA4
Protein Products
- R&D Systems Proteins and Enzymes for CTLA4 (CTLA-4)
-
OriGene Purified Proteins for CTLA4
- Search Origene for MassSpec and Protein Over-expression Lysates for CTLA4
- Origene Custom Protein Services for CTLA4
- Sino Biological Cell Lysates for CTLA4
- Sino Biological Recombinant Proteins for CTLA4
- Sino Biological Cell Lysates for CTLA4
- ProSpec Recombinant Proteins for CTLA4
-
Cloud-Clone Corp. Proteins for CTLA4
- Search GeneTex for Proteins for CTLA4
-
ProSci Proteins for CTLA4
- cytotoxic T-lymphocyte-associated protein 4 [96-215]
- cytotoxic T-lymphocyte-associated protein 4 [96-216]
- cytotoxic T-lymphocyte-associated protein 4 [96-218]
- cytotoxic T-lymphocyte-associated protein 4 [96-219]
- cytotoxic T-lymphocyte-associated protein 4 [96-220]
- Cytotoxic T-lymphocyte protein 4 [96-858]
- cytotoxic T-lymphocyte protein 4 isoform 1 precursor [96-987]
- cytotoxic T-lymphocyte protein 4 isoform 1 precursor [96-988]
- cytotoxic T-lymphocyte protein 4 isoform 1 precursor [96-989]
- Cytotoxic T-lymphocyte protein 4 [97-033]
- Cytotoxic T-lymphocyte associated protein-4 precursor [97-040]
- cytotoxic T-lymphocyte-associated protein 4 [RF16010-01]
- cytotoxic T-lymphocyte associated protein 4 [90-411]
- cytotoxic T-lymphocyte associated protein 4 [90-412]
- cytotoxic T-lymphocyte associated protein 4 [92-722]
- cytotoxic T-lymphocyte associated protein 4 [92-337]
- cytotoxic T-lymphocyte associated protein 4 [90-415]
- cytotoxic T-lymphocyte associated protein 4 [90-414]
- cytotoxic T-lymphocyte associated protein 4 [90-413]
-
Abcam proteins for CTLA4
Assay Products
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for CTLA4 (CTLA-4)
-
Cloud-Clone Corp. Assay Kits for CTLA4
- Sino Biological Assays for CTLA4
No data available for DME Specific Peptides for CTLA4 Gene
Domains & Families for CTLA4 Gene
Gene Families for CTLA4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- CD markers
- Disease related genes
- FDA approved drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for CTLA4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CTLA4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for CTLA4 Gene
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.
Phenotypes From GWAS Catalog for CTLA4 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 7807015 |
Phenotypes for CTLA4 Gene
- MGI mutant phenotypes for CTLA4:
-
inferred from 5 alleles
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- integument phenotype
- hematopoietic system phenotype
- skeleton phenotype
- pigmentation phenotype
- liver/biliary system phenotype
- GenomeRNAi human phenotypes for CTLA4:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CTLA4
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CTLA4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CTLA4 gene
- Search ViGene Biosciences for CTLA4
CRISPR Products
-
OriGene CRISPR knockouts for CTLA4
- genomics-online: gRNA clones - Search results for 128 available CTLA4 gene related products
- Overview of 128 available CTLA4 gene related products
- Applied Biological Materials CRISPR for CTLA4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CTLA4
- GenScript: Design CRISPR guide RNA sequences for CTLA4
miRNA for CTLA4 Gene
- miRTarBase miRNAs that target CTLA4
miRNA Products
- Search ViGene Biosciences for CTLA4
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CTLA4
- Browse OriGene Inhibitory RNA Products For CTLA4
- genomics-online: shRNA clones - Search results for 128 available CTLA4 gene related products
- Overview of 128 available CTLA4 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CTLA4 gene
Clone Products
- Sino Biological Human cDNA Clone for CTLA4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CTLA4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CTLA4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for CTLA4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- Browse cDNA clones at Cloud-Clone Corp.
-
Cloud-Clone Corp. primers for CTLA4
- R&D Systems cDNA Clones for CTLA4 (CTLA-4)
Cell Line Products
-
Horizon Cell Lines for CTLA4
-
ViGene Biosciences adenoviral particle packaged cDNA for CTLA4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CTLA4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CTLA4 gene
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;.
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 | IMP,TAS | 28484017 |
GO:0009897 | external side of plasma membrane | IDA | 18641304 |
GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTLA4 Gene
Pathways & Interactions for CTLA4 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection | ||
2 | T cell receptor signaling pathway | ||
3 | Cell adhesion molecules (CAMs) | ||
4 | Rheumatoid arthritis | ||
5 | NF-kappaB Signaling |
Pathways by source for CTLA4 Gene
1 Cell Signaling Technology pathway for CTLA4 Gene
4 BioSystems pathways for CTLA4 Gene
4 Reactome pathways for CTLA4 Gene
4 KEGG pathways for CTLA4 Gene
1 R&D Systems pathway for CTLA4 Gene
3 Qiagen pathways for CTLA4 Gene
Interacting Proteins for CTLA4 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0006955 | immune response | TAS,IEA | 3220103 |
GO:0006974 | cellular response to DNA damage stimulus | IMP | 17875758 |
GO:0030889 | negative regulation of B cell proliferation | IMP | 17875758 |
Drugs & Compounds for CTLA4 Gene
(59) 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 |
---|---|---|---|---|---|---|
Ipilimumab | Approved | Pharma | Target, Antibody, immunotherapy, inhibitor | Therapeutic Antibodies, Immunotherapies, Immunomodulatory agents | 0 | |
Prednisone | Approved, Vet_approved | Pharma | 1475 | |||
Abatacept | Approved | Pharma | 210 | |||
Cyclosporin A | Approved, Investigational, Vet_approved | Pharma | Antagonist | Immunosuppressant drug, Immunosuppressive agent, Calcineurin inhibitor | 0 | |
Dexamethasone | Approved, Investigational, Vet_approved | Pharma | Agonist | 2314 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Transcripts for CTLA4 Gene
mRNA/cDNA for CTLA4 Gene
- (2) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (22) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CTLA4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CTLA4
- genomics-online: gRNA clones - Search results for 128 available CTLA4 gene related products
- Overview of 128 available CTLA4 gene related products
- Applied Biological Materials CRISPR for CTLA4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CTLA4
- GenScript: Design CRISPR guide RNA sequences for CTLA4
miRNA Products
- Search ViGene Biosciences for CTLA4
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CTLA4
- Browse OriGene Inhibitory RNA Products For CTLA4
- genomics-online: shRNA clones - Search results for 128 available CTLA4 gene related products
- Overview of 128 available CTLA4 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CTLA4 gene
Clone Products
- Sino Biological Human cDNA Clone for CTLA4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CTLA4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CTLA4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for CTLA4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- Browse cDNA clones at Cloud-Clone Corp.
-
Cloud-Clone Corp. primers for CTLA4
- R&D Systems cDNA Clones for CTLA4 (CTLA-4)
Expression for CTLA4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- T Helper Cells Peripheral Blood
- T Helper Cells Thymus
- Ovalbumin speci?c type 1 regulatory T- cells (Ovasave)
- Regulatory T cells
- cd4+ cells
-
Thymus (Hematopoietic System)
- T Helper Cells Thymus
-
Tonsil (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for CTLA4 Gene
NURSA nuclear receptor signaling pathways regulating expression of CTLA4 Gene:
CTLA4SOURCE GeneReport for Unigene cluster for CTLA4 Gene:
Hs.247824mRNA Expression by UniProt/SwissProt for CTLA4 Gene:
P16410-CTLA4_HUMANEvidence on tissue expression from TISSUES for CTLA4 Gene
- Blood(4.7)
- Lymph node(4.6)
- Lung(4.3)
- Spleen(2.9)
- Intestine(2.4)
- Thyroid gland(2.2)
- Skin(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CTLA4 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeleton
- urinary
- brain
- ear
- eye
- face
- head
- larynx
- mouth
- neck
- nose
- pituitary gland
- sinus
- skull
- bronchus
- esophagus
- heart
- lung
- trachea
- intestine
- kidney
- large intestine
- liver
- small intestine
- spleen
- stomach
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
- blood
- blood vessel
- coagulation system
- lymph node
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for CTLA4
-
OriGene qPCR primer pairs for CTLA4
- genomics-online: primer clones - Search results for 128 available CTLA4 gene related products
- Overview of 128 available CTLA4 gene related 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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CTLA4 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | CTLA4 33 |
|
||
CD152 34 |
|
OneToOne | |||
cow (Bos Taurus) |
Mammalia | CTLA4 33 |
|
||
CTLA-4 34 |
|
OneToOne | |||
rat (Rattus norvegicus) |
Mammalia | Ctla4 33 |
|
||
mouse (Mus musculus) |
Mammalia | Ctla4 33 16 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | CTLA4 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | CTLA4 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | CTLA4 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | ctla4 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | cd28 34 |
|
OneToOne |
- Species where no ortholog for CTLA4 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for CTLA4 Gene
Variants for CTLA4 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for CTLA4 Gene
- CTLA4_HUMAN-P16410
- 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).
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs138279736 | uncertain-significance | 203,867,965(+) | G/A/T | coding_sequence_variant, missense_variant | |
rs16840275 | benign | 203,868,017(+) | G/C | coding_sequence_variant, synonymous_variant | |
rs231775 | risk-factor, benign, Hashimoto thyroiditis, susceptibility to, Thyroid-associated orbitopathy, susceptibility to, Systemic lupus erythematosus, susceptibility to, Diabetes mellitus, insulin-dependent, susceptibility to, Celiac disease 3, not specified | 203,867,991(+) | A/G/T | coding_sequence_variant, missense_variant | |
rs606231417 | pathogenic | 203,870,627(+) | C/T | coding_sequence_variant, stop_gained | |
rs606231418 | pathogenic | 203,868,017(+) | G/ | coding_sequence_variant, frameshift |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1001799 | CNV | gain | 25217958 |
Additional Variant Information for CTLA4 Gene
Disorders for CTLA4 Gene

(69) MalaCards diseases for CTLA4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
autoimmune lymphoproliferative syndrome, type v |
|
|
celiac disease 3 |
|
|
diabetes mellitus, insulin-dependent, 12 |
|
|
systemic lupus erythematosus |
|
|
autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency |
|
|
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. {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.
Additional Disease Information for CTLA4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CTLA4 Gene
Publications for CTLA4 Gene
- Functional polymorphism of cytotoxic T-lymphocyte antigen 4 and nasopharyngeal carcinoma susceptibility in a Chinese population. (PMID: 19922464) Xiao M … Tang J (International journal of immunogenetics 2010) 3 22 44 58
- Genotype analysis of polymorphisms in autoimmune susceptibility genes, CTLA-4 and PTPN22, in an acute anterior uveitis cohort. (PMID: 19180256) Martin TM … Wallace GR (Molecular vision 2009) 3 22 44 58
- Combination of CTLA-4 and TGFbeta1 gene polymorphisms associated with dengue hemorrhagic fever and virus load in a dengue-2 outbreak. (PMID: 19269255) Chen RF … Yang KD (Clinical immunology (Orlando, Fla.) 2009) 3 22 44 58
- CTLA4 gene polymorphisms and soluble CTLA4 protein in Behcet's disease. (PMID: 19563524) Park KS … Lee ES (Tissue antigens 2009) 3 22 44 58
- [+49 A/G genetic polymorphism of cytotoxic T lymphocyte associated antigen 4 (CTLA-4) in type 7 diabetes: association with autoantibodies and cytokines]. (PMID: 19621172) Pérez B F … Carrasco P E (Revista medica de Chile 2009) 3 22 44 58
Products for CTLA4 Gene
- R&D Systems Antibodies for CTLA4 (CTLA-4)
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- Custom Antibody ServicesOriGene Antibodies for CTLA4
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- Invitrogen Antibodies for CTLA4
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 452 available CTLA4 Antibodies ranked by validation data
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- GeneTex CTLA4 antibody for CTLA4
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- Custom Antibody ServicesProSci Antibodies for CTLA4
- cytotoxic T-lymphocyte-associated protein 4 [76-844]
- cytotoxic T-lymphocyte associated protein 4 [RF16011]
- cytotoxic T-lymphocyte associated protein 4 [RF16011-HRP]
- cytotoxic T-lymphocyte associated protein 4 [RF16012]
- cytotoxic T-lymphocyte associated protein 4 [RF16013]
- cytotoxic T-lymphocyte associated protein 4 [RF16013-HRP]
- ProSci Proteins for CTLA4
- cytotoxic T-lymphocyte-associated protein 4 [96-215]
- cytotoxic T-lymphocyte-associated protein 4 [96-216]
- cytotoxic T-lymphocyte-associated protein 4 [96-218]
- cytotoxic T-lymphocyte-associated protein 4 [96-219]
- cytotoxic T-lymphocyte-associated protein 4 [96-220]
- Cytotoxic T-lymphocyte protein 4 [96-858]
- cytotoxic T-lymphocyte protein 4 isoform 1 precursor [96-987]
- cytotoxic T-lymphocyte protein 4 isoform 1 precursor [96-988]
- cytotoxic T-lymphocyte protein 4 isoform 1 precursor [96-989]
- Cytotoxic T-lymphocyte protein 4 [97-033]
- Cytotoxic T-lymphocyte associated protein-4 precursor [97-040]
- cytotoxic T-lymphocyte-associated protein 4 [RF16010-01]
- cytotoxic T-lymphocyte associated protein 4 [90-411]
- cytotoxic T-lymphocyte associated protein 4 [90-412]
- cytotoxic T-lymphocyte associated protein 4 [90-413]
- cytotoxic T-lymphocyte associated protein 4 [90-414]
- cytotoxic T-lymphocyte associated protein 4 [90-415]
- cytotoxic T-lymphocyte associated protein 4 [92-337]
- cytotoxic T-lymphocyte associated protein 4 [92-722]
- Horizon Cell Lines for CTLA4
- genomics-online: cdna clones - Search results for 128 available CTLA4 gene related products
- Overview of 128 available CTLA4 gene related products
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- Overview of 128 available CTLA4 gene related products
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- Overview of 128 available CTLA4 gene related products
Sources for CTLA4 Gene
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