MAPK8IP3 Chromosome 16
Mitogen-activated protein kinase 8 interacting protein 3
Upload your DNA to see your personal genotypes for variants in MAPK8IP3.
What This Gene Does
The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000138834
Associated Conditions (6)
Neurodevelopmental disorder with or without variable brain abnormalities
NEDBA
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Neurodevelopmental disorder
MAPK8IP3-related disorder
Key Variants
RS1163583945
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities
Health Risk
RS1417684145
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities
Health Risk
RS1596711175
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Inborn genetic diseases
Health Risk
RS1596780112
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Uterine corpus endometrial carcinoma
Health Risk
RS200312072
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Inborn genetic diseases
Health Risk
RS2141957171
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS369258590
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS575438591
Conflicting classifications of pathogenicity
Health Risk
RS775007768
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Inborn genetic diseases
Health Risk
RS1479142047
Likely pathogenic
Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities
Health Risk
RS1567128142
Likely pathogenic
Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Inborn genetic diseases
Health Risk
RS1567198751
Likely pathogenic
Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1163583945 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities |
| RS1417684145 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities |
| RS1596711175 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Inborn genetic diseases |
| RS1596780112 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Uterine corpus endometrial carcinoma |
| RS200312072 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Inborn genetic diseases |
| RS2141957171 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS369258590 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS575438591 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775007768 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Inborn genetic diseases |
| RS1479142047 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities |
| RS1567128142 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Inborn genetic diseases |
| RS1567198751 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities |
| RS1596766963 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities |
| RS2037399601 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities |
| RS2141939548 | Health Risk | Likely pathogenic | — |
| RS2547945307 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities |
| RS2547945615 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities |
| RS770703007 | Health Risk | Likely pathogenic | MAPK8IP3-related disorder, Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA |
| RS2548090655 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder with or without variable brain abnormalities |
| RS755287045 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1567203083 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Neurodevelopmental disorder |
| RS1567214097 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, Inborn genetic diseases |