MAP4K4 Chromosome 2
Mitogen-activated protein kinase kinase kinase kinase 4
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What This Gene Does
The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitogen-activated protein kinase kinase kinase kinases
Locus Type
gene with protein product
Location
2q11.2
Ensembl
ENSG00000071054
Associated Conditions (4)
Inborn genetic diseases
Renal dysplasia
Imperforate anus
Cerebral arteriovenous malformation
Key Variants
RS200603698
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2466904144
Likely pathogenic
Health Risk
RS2468868556
Likely pathogenic
Renal dysplasia, Imperforate anus, Renal dysplasia
Health Risk
RS781410462
Likely pathogenic
Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200603698 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2466904144 | Health Risk | Likely pathogenic | — |
| RS2468868556 | Health Risk | Likely pathogenic | Renal dysplasia, Imperforate anus, Renal dysplasia |
| RS781410462 | Health Risk | Likely pathogenic | Cerebral arteriovenous malformation, Cerebral arteriovenous malformation |