MAP3K20 Chromosome 2
Mitogen-activated protein kinase kinase kinase 20
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What This Gene Does
This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitogen-activated protein kinase kinase kinases|Mixed lineage kinase family"
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000091436
Associated Conditions (9)
MAP3K20-related disorder
Inborn genetic diseases
Myopathy
centronuclear
6
with fiber-type disproportion
Centronuclear myopathy
Split-foot malformation-mesoaxial polydactyly syndrome
Split hand-foot malformation 1
Key Variants
RS188158548
Conflicting classifications of pathogenicity
Health Risk
RS201693932
Conflicting classifications of pathogenicity
MAP3K20-related disorder, MAP3K20-related disorder
Health Risk
RS202049682
Conflicting classifications of pathogenicity
Health Risk
RS757134784
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2106303300
Likely pathogenic
MAP3K20-related disorder, MAP3K20-related disorder
Health Risk
RS748881862
Likely pathogenic
Health Risk
RS1273551046
Pathogenic
Health Risk
RS1293675104
Pathogenic
Myopathy, centronuclear, 6
Health Risk
RS1469983269
Pathogenic
Health Risk
RS1553578407
Pathogenic
Myopathy, centronuclear, 6
Health Risk
RS2106337664
Pathogenic
Health Risk
RS2468151030
Pathogenic
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS188158548 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201693932 | Health Risk | Conflicting classifications of pathogenicity | MAP3K20-related disorder, MAP3K20-related disorder |
| RS202049682 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757134784 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2106303300 | Health Risk | Likely pathogenic | MAP3K20-related disorder, MAP3K20-related disorder |
| RS748881862 | Health Risk | Likely pathogenic | — |
| RS1273551046 | Health Risk | Pathogenic | — |
| RS1293675104 | Health Risk | Pathogenic | Myopathy, centronuclear, 6 |
| RS1469983269 | Health Risk | Pathogenic | — |
| RS1553578407 | Health Risk | Pathogenic | Myopathy, centronuclear, 6 |
| RS2106337664 | Health Risk | Pathogenic | — |
| RS2468151030 | Health Risk | Pathogenic | — |
| RS2468316009 | Health Risk | Pathogenic | — |
| RS3769148 | Health Risk | Pathogenic | Split-foot malformation-mesoaxial polydactyly syndrome, Split-foot malformation-mesoaxial polydactyly syndrome |
| RS863225437 | Health Risk | Pathogenic | Split hand-foot malformation 1, Split-foot malformation-mesoaxial polydactyly syndrome, Split hand-foot malformation 1 |
| RS1553576774 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, centronuclear, 6 |