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The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]
CD27 (CD27 Molecule) is a Protein Coding gene. Diseases associated with CD27 include Lymphoproliferative Syndrome 2 and Combined T Cell And B Cell Immunodeficiency. Among its related pathways are TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions and Akt Signaling. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and cysteine-type endopeptidase inhibitor activity involved in apoptotic process. An important paralog of this gene is TNFRSF9.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | NAS | 14556986 |
GO:0005515 | protein binding | IPI | 9177220 |
GO:0043027 | cysteine-type endopeptidase inhibitor activity involved in apoptotic process | IDA | 12324477 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | NAS | 12624711 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | NAS | 12324477 |
GO:0009897 | external side of plasma membrane | IEA,IBA | 21873635 |
GO:0009986 | cell surface | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
2 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
|
3 | TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions | ||
4 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
|
|
5 | 4-1BB Pathway |
CD27 Pathway
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0007166 | cell surface receptor signaling pathway | NAS | 14556986 |
GO:0016064 | immunoglobulin mediated immune response | NAS | 14556986 |
GO:0033209 | tumor necrosis factor-mediated signaling pathway | TAS | -- |
GO:0043066 | negative regulation of apoptotic process | IBA,IDA | 12324477 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD27 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD27 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD27 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd27 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cd27 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CD27 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636496 | Uncertain Significance: not provided | 6,450,275(+) | C/G | MISSENSE_VARIANT | |
636587 | Likely Pathogenic: not provided | 6,451,388(+) | CCT/C | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
644090 | Uncertain Significance: Lymphoproliferative syndrome 2 | 6,450,257(+) | C/A | MISSENSE_VARIANT | |
649825 | Uncertain Significance: Lymphoproliferative syndrome 2 | 6,445,520(+) | G/A | MISSENSE_VARIANT | |
655342 | Uncertain Significance: Lymphoproliferative syndrome 2 | 6,445,493(+) | T/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
lymphoproliferative syndrome 2 |
|
|
combined t cell and b cell immunodeficiency |
|
|
immune deficiency disease |
|
|
lymphoproliferative syndrome |
|
|
common variable immunodeficiency |
|