MAP3K14 Chromosome 17
Mitogen-activated protein kinase kinase kinase 14
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What This Gene Does
This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitogen-activated protein kinase kinase kinases
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000006062
Associated Conditions (2)
NIK deficiency
Immunodeficiency 112
Key Variants
RS56302559
Conflicting classifications of pathogenicity
NIK deficiency, NIK deficiency
Health Risk
RS780884476
Conflicting classifications of pathogenicity
NIK deficiency, NIK deficiency
Health Risk
RS781573292
Conflicting classifications of pathogenicity
NIK deficiency, NIK deficiency
Health Risk
RS921192159
Conflicting classifications of pathogenicity
NIK deficiency, NIK deficiency
Health Risk
RS2143820144
Likely pathogenic
NIK deficiency, NIK deficiency
Health Risk
RS773929665
Pathogenic
Immunodeficiency 112, Immunodeficiency 112
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS56302559 | Health Risk | Conflicting classifications of pathogenicity | NIK deficiency, NIK deficiency |
| RS780884476 | Health Risk | Conflicting classifications of pathogenicity | NIK deficiency, NIK deficiency |
| RS781573292 | Health Risk | Conflicting classifications of pathogenicity | NIK deficiency, NIK deficiency |
| RS921192159 | Health Risk | Conflicting classifications of pathogenicity | NIK deficiency, NIK deficiency |
| RS2143820144 | Health Risk | Likely pathogenic | NIK deficiency, NIK deficiency |
| RS773929665 | Health Risk | Pathogenic | Immunodeficiency 112, Immunodeficiency 112 |