NEK9 Chromosome 14
NIMA related kinase 9
Upload your DNA to see your personal genotypes for variants in NEK9.
What This Gene Does
This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
NIMA related kinase family
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119638
Associated Conditions (11)
Arthrogryposis
Perthes disease
and upward gaze palsy
Uterine corpus endometrial carcinoma
NEK9-related disorder
NEK9-related lethal skeletal dysplasia
Malignant tumor of urinary bladder
Lung cancer
Goldberg-Shprintzen syndrome
Nevus comedonicus syndrome
Inborn genetic diseases
Key Variants
RS111316318
Conflicting classifications of pathogenicity
Arthrogryposis, Perthes disease, and upward gaze palsy
Health Risk
RS146787666
Conflicting classifications of pathogenicity
NEK9-related disorder, NEK9-related lethal skeletal dysplasia, Malignant tumor of urinary bladder
Health Risk
RS61746426
Conflicting classifications of pathogenicity
Arthrogryposis, Perthes disease, and upward gaze palsy
Health Risk
RS1057518379
Likely pathogenic
Health Risk
RS1223686470
Likely pathogenic
Health Risk
RS1327520738
Likely pathogenic
Arthrogryposis, Perthes disease, and upward gaze palsy
Health Risk
RS1362564667
Likely pathogenic
Arthrogryposis, Perthes disease, and upward gaze palsy
Health Risk
RS1402196530
Likely pathogenic
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
RS1895020933
Likely pathogenic
Health Risk
RS2139820216
Likely pathogenic
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
RS2503501853
Likely pathogenic
Arthrogryposis, Perthes disease, and upward gaze palsy
Health Risk
RS2503528457
Likely pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111316318 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, Perthes disease, and upward gaze palsy |
| RS146787666 | Health Risk | Conflicting classifications of pathogenicity | NEK9-related disorder, NEK9-related lethal skeletal dysplasia, Malignant tumor of urinary bladder |
| RS61746426 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, Perthes disease, and upward gaze palsy |
| RS1057518379 | Health Risk | Likely pathogenic | — |
| RS1223686470 | Health Risk | Likely pathogenic | — |
| RS1327520738 | Health Risk | Likely pathogenic | Arthrogryposis, Perthes disease, and upward gaze palsy |
| RS1362564667 | Health Risk | Likely pathogenic | Arthrogryposis, Perthes disease, and upward gaze palsy |
| RS1402196530 | Health Risk | Likely pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS1895020933 | Health Risk | Likely pathogenic | — |
| RS2139820216 | Health Risk | Likely pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS2503501853 | Health Risk | Likely pathogenic | Arthrogryposis, Perthes disease, and upward gaze palsy |
| RS2503528457 | Health Risk | Likely pathogenic | — |
| RS1237535497 | Health Risk | Pathogenic | — |
| RS1555352529 | Health Risk | Pathogenic | Nevus comedonicus syndrome, Nevus comedonicus syndrome |
| RS2503459108 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS753437319 | Health Risk | Pathogenic | — |
| RS757011098 | Health Risk | Pathogenic | NEK9-related lethal skeletal dysplasia, NEK9-related lethal skeletal dysplasia |
| RS764694597 | Health Risk | Pathogenic | — |
| RS775453859 | Health Risk | Pathogenic | — |
| RS778413122 | Health Risk | Pathogenic | — |
| RS879253775 | Health Risk | Pathogenic | Nevus comedonicus syndrome, Nevus comedonicus syndrome |
| RS901508820 | Health Risk | Pathogenic | — |