MAP3K7 Chromosome 6
Mitogen-activated protein kinase kinase kinase 7
Upload your DNA to see your personal genotypes for variants in MAP3K7.
What This Gene Does
The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitogen-activated protein kinase kinase kinases
Locus Type
gene with protein product
Location
6q15
Ensembl
ENSG00000135341
Associated Conditions (5)
Inborn genetic diseases
MAP3K7-related disorder
Cardiospondylocarpofacial syndrome
Delayed skeletal maturation
Frontometaphyseal dysplasia 2
Key Variants
RS139666795
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147070999
Conflicting classifications of pathogenicity
MAP3K7-related disorder, Inborn genetic diseases, MAP3K7-related disorder
Health Risk
RS149444442
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1776463168
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1776911945
Conflicting classifications of pathogenicity
Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
Health Risk
RS2127974491
Conflicting classifications of pathogenicity
Delayed skeletal maturation, Delayed skeletal maturation
Health Risk
RS2481817652
Conflicting classifications of pathogenicity
Health Risk
RS2481822388
Conflicting classifications of pathogenicity
Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
Health Risk
RS537649538
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS759545618
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS762711020
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766181895
Conflicting classifications of pathogenicity
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139666795 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147070999 | Health Risk | Conflicting classifications of pathogenicity | MAP3K7-related disorder, Inborn genetic diseases, MAP3K7-related disorder |
| RS149444442 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1776463168 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1776911945 | Health Risk | Conflicting classifications of pathogenicity | Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS2127974491 | Health Risk | Conflicting classifications of pathogenicity | Delayed skeletal maturation, Delayed skeletal maturation |
| RS2481817652 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2481822388 | Health Risk | Conflicting classifications of pathogenicity | Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS537649538 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759545618 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762711020 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766181895 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766705070 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772656967 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776133610 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS929527043 | Health Risk | Conflicting classifications of pathogenicity | Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS1057517758 | Health Risk | Likely pathogenic | — |
| RS1064795771 | Health Risk | Likely pathogenic | — |
| RS1180249151 | Health Risk | Likely pathogenic | Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2 |
| RS1554184177 | Health Risk | Likely pathogenic | — |
| RS1582233598 | Health Risk | Likely pathogenic | — |
| RS1582233787 | Health Risk | Likely pathogenic | Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS2127974446 | Health Risk | Likely pathogenic | Frontometaphyseal dysplasia 2, Cardiospondylocarpofacial syndrome, Frontometaphyseal dysplasia 2 |
| RS2127975265 | Health Risk | Likely pathogenic | — |
| RS1776199533 | Health Risk | Pathogenic | Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS2127975274 | Health Risk | Pathogenic | Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS886039230 | Health Risk | Pathogenic | Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2 |
| RS886039231 | Health Risk | Pathogenic | Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2 |
| RS886039232 | Health Risk | Pathogenic | Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2 |
| RS886039233 | Health Risk | Pathogenic | Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2 |
| RS886039234 | Health Risk | Pathogenic | Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS886039235 | Health Risk | Pathogenic | Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS886039236 | Health Risk | Pathogenic | Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS886039237 | Health Risk | Pathogenic | Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS2127974439 | Health Risk | Pathogenic/Likely pathogenic | — |