CD27 Chromosome 12
CD27 molecule
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor receptor superfamily"
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000139193
Associated Conditions (6)
Lymphoproliferative syndrome 2
Inborn genetic diseases
Autoinflammatory syndrome
CD27-related disorder
Combined immunodeficiency
Immunodeficiency
Key Variants
RS143035415
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 2, Inborn genetic diseases, Lymphoproliferative syndrome 2
Health Risk
RS202127301
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 2, Autoinflammatory syndrome, CD27-related disorder
Health Risk
RS371761387
Conflicting classifications of pathogenicity
Combined immunodeficiency, Immunodeficiency, Lymphoproliferative syndrome 2
Health Risk
RS772449872
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 2, Inborn genetic diseases, Lymphoproliferative syndrome 2
Health Risk
RS779092602
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
Health Risk
RS1179448549
Likely pathogenic
Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
Health Risk
RS761504128
Likely pathogenic
Health Risk
RS1592117677
Pathogenic
Immunodeficiency, Combined immunodeficiency, Immunodeficiency
Health Risk
RS2136960831
Pathogenic
Health Risk
RS2498108640
Pathogenic
Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
Health Risk
RS2498138493
Pathogenic
Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
Health Risk
RS2498141484
Pathogenic
Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143035415 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 2, Inborn genetic diseases, Lymphoproliferative syndrome 2 |
| RS202127301 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 2, Autoinflammatory syndrome, CD27-related disorder |
| RS371761387 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency, Immunodeficiency, Lymphoproliferative syndrome 2 |
| RS772449872 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 2, Inborn genetic diseases, Lymphoproliferative syndrome 2 |
| RS779092602 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |
| RS1179448549 | Health Risk | Likely pathogenic | Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |
| RS761504128 | Health Risk | Likely pathogenic | — |
| RS1592117677 | Health Risk | Pathogenic | Immunodeficiency, Combined immunodeficiency, Immunodeficiency |
| RS2136960831 | Health Risk | Pathogenic | — |
| RS2498108640 | Health Risk | Pathogenic | Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |
| RS2498138493 | Health Risk | Pathogenic | Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |
| RS2498141484 | Health Risk | Pathogenic | Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |
| RS397514667 | Health Risk | Pathogenic | Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |
| RS398122933 | Health Risk | Pathogenic | Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |
| RS748418658 | Health Risk | Pathogenic | Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |
| RS1949504456 | Health Risk | Pathogenic/Likely pathogenic | Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |
| RS781593353 | Health Risk | Pathogenic/Likely pathogenic | Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |