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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]
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 TCR Signaling (Qiagen) and T cell receptor signaling pathway. An important paralog of this gene is CD28.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 7807015 |
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,IMP | 28484017 |
GO:0009897 | external side of plasma membrane | IDA | 18641304 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection | ||
2 | T cell receptor signaling pathway | ||
3 | NF-kappaB Signaling | ||
4 | Cell adhesion molecules (CAMs) | ||
5 | Rheumatoid arthritis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IBA | 21873635 |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ipilimumab | Approved | Pharma | Target, inhibitor, Antibody, immunotherapy | Therapeutic Antibodies, Immunotherapies, Immunomodulatory agents | 676 | |
Prednisone | Approved, Vet_approved | Pharma | 1738 | |||
leucovorin | Approved | Pharma | 3692,1548 | |||
Abatacept | Approved | Pharma | 251 | |||
Cyclosporin A | Approved, Investigational, Vet_approved | Pharma | Antagonist, Inhibitor, Inhibition | Immunosuppressive agent, Calcineurin inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CTLA4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CTLA4 30 |
|
||
CD152 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | CTLA4 30 |
|
||
CTLA-4 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Ctla4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ctla4 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CTLA4 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CTLA4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CTLA4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ctla4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cd28 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
623475 | Pathogenic: Autoimmune lymphoproliferatiVe syndrome, type V | 203,870,892(+) | A/G | MISSENSE_VARIANT | |
636389 | Uncertain Significance: not provided | 203,870,933(+) | G/A | MISSENSE_VARIANT | |
636546 | Uncertain Significance: not provided | 203,867,939(+) | A/G | FIVE_PRIME_UTR_VARIANT | |
641644 | Uncertain Significance: Autoimmune lymphoproliferatiVe syndrome, type V | 203,871,407(+) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
643372 | Uncertain Significance: Autoimmune lymphoproliferatiVe syndrome, type V | 203,870,649(+) | G/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1001799 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autoimmune lymphoproliferative syndrome, type v |
|
|
celiac disease 3 |
|
|
diabetes mellitus, insulin-dependent, 12 |
|
|
mycosis fungoides |
|
|
systemic lupus erythematosus |
|