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This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008]
PDCD1 (Programmed Cell Death 1) is a Protein Coding gene. Diseases associated with PDCD1 include Systemic Lupus Erythematosus 2 and Multiple Sclerosis. Among its related pathways are T cell receptor signaling pathway and Innate Immune System. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15240681 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0009897 | external side of plasma membrane | IEA,IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | T cell receptor signaling pathway | ||
2 | NF-kappaB Signaling | ||
3 | Cell adhesion molecules (CAMs) | ||
4 | Class I MHC mediated antigen processing and presentation | ||
5 | CD28 co-stimulation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002644 | negative regulation of tolerance induction | IEA | -- |
GO:0006915 | apoptotic process | TAS,IEA | -- |
GO:0006959 | humoral immune response | TAS | 9332365 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
nivolumab | Approved | Pharma | Target, antibody, immunotherapy, inhibitor | Therapeutic Antibodies, Immunotherapies | 1165 | |
Pembrolizumab | Approved | Pharma | Target, antagonist, antibody | 1266 | ||
Cemiplimab | Approved, Investigational | Pharma | Target, inhibitor | 56 | ||
CT-011 | Investigational | Pharma | Target, Antibody | 0 | ||
Pidilizumab | Investigational | Pharma | antibody, immunotherapy | Therapeutic Antibodies, Immunotherapies | 15 |
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 | PDCD1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | PDCD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PDCD1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC102550808 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pdcd1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PDCD1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PDCD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PDCD1 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
790522 | Benign: not provided | 241,858,753(-) | C/T | INTRON_VARIANT | |
rs11568821 | Risk Factor: Systemic lupus erythematosus, association wit 2; Multiple sclerosis modifier of disease progression | 241,851,760(-) | C/G | INTRON_VARIANT | |
rs2227982 | - | p.Ala215Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv165e55 | CNV | loss | 17911159 |
dgv4200n100 | CNV | loss | 25217958 |
dgv4201n100 | CNV | gain | 25217958 |
esv3893582 | CNV | gain | 25118596 |
nsv1002941 | CNV | gain | 25217958 |
nsv470533 | CNV | loss | 18288195 |
nsv584991 | CNV | loss | 21841781 |
nsv821942 | CNV | gain | 20364138 |
nsv955302 | CNV | deletion | 24416366 |
nsv997984 | CNV | gain | 25217958 |
nsv998059 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
systemic lupus erythematosus 2 |
|
|
multiple sclerosis |
|
|
systemic lupus erythematosus |
|
|
lupus erythematosus |
|
|
testicular lymphoma |
|
|