STK4 Chromosome 20
Serine/threonine kinase 4
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What This Gene Does
The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Combined immunodeficiency due to STK4 deficiency
Inborn genetic diseases
STK4-related disorder
Severe combined immunodeficiency disease
Inherited Immunodeficiency Diseases
Key Variants
RS140089638
Conflicting classifications of pathogenicity
Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
Health Risk
RS368631495
Conflicting classifications of pathogenicity
Combined immunodeficiency due to STK4 deficiency, Inborn genetic diseases, Combined immunodeficiency due to STK4 deficiency
Health Risk
RS55850759
Conflicting classifications of pathogenicity
STK4-related disorder, Combined immunodeficiency due to STK4 deficiency, Inborn genetic diseases
Health Risk
RS2515586999
Likely pathogenic
Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
Health Risk
RS2515613848
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS2515632815
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS2515640727
Likely pathogenic
Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
Health Risk
RS148138374
Pathogenic
Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
Health Risk
RS1601230245
Pathogenic
Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
Health Risk
RS1601240010
Pathogenic
Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
Health Risk
RS2067832645
Pathogenic
Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
Health Risk
RS2145665305
Pathogenic
Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140089638 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |
| RS368631495 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to STK4 deficiency, Inborn genetic diseases, Combined immunodeficiency due to STK4 deficiency |
| RS55850759 | Health Risk | Conflicting classifications of pathogenicity | STK4-related disorder, Combined immunodeficiency due to STK4 deficiency, Inborn genetic diseases |
| RS2515586999 | Health Risk | Likely pathogenic | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |
| RS2515613848 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2515632815 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2515640727 | Health Risk | Likely pathogenic | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |
| RS148138374 | Health Risk | Pathogenic | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |
| RS1601230245 | Health Risk | Pathogenic | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |
| RS1601240010 | Health Risk | Pathogenic | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |
| RS2067832645 | Health Risk | Pathogenic | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |
| RS2145665305 | Health Risk | Pathogenic | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |
| RS2145695502 | Health Risk | Pathogenic | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |
| RS387907316 | Health Risk | Pathogenic | Combined immunodeficiency due to STK4 deficiency, Inherited Immunodeficiency Diseases, STK4-related disorder |
| RS748660310 | Health Risk | Pathogenic | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |
| RS749441226 | Health Risk | Pathogenic | Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency |