CD70 Chromosome 19
CD70 molecule
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What This Gene Does
The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor superfamily"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000125726
Associated Conditions (1)
Severe combined immunodeficiency due to CD70 deficiency
Key Variants
RS1568431102
Pathogenic
Severe combined immunodeficiency due to CD70 deficiency, Severe combined immunodeficiency due to CD70 deficiency
Health Risk
RS1568431262
Pathogenic
Severe combined immunodeficiency due to CD70 deficiency, Severe combined immunodeficiency due to CD70 deficiency
Health Risk
RS368303189
Pathogenic
Severe combined immunodeficiency due to CD70 deficiency, Severe combined immunodeficiency due to CD70 deficiency
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1568431102 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CD70 deficiency, Severe combined immunodeficiency due to CD70 deficiency |
| RS1568431262 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CD70 deficiency, Severe combined immunodeficiency due to CD70 deficiency |
| RS368303189 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CD70 deficiency, Severe combined immunodeficiency due to CD70 deficiency |