TAOK1 Chromosome 17
TAO kinase 1
Upload your DNA to see your personal genotypes for variants in TAOK1.
What This Gene Does
Enables alpha-tubulin binding activity; beta-tubulin binding activity; and kinase activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; negative regulation of microtubule depolymerization; and positive regulation of MAPK cascade. Located in several cellular components, including microtubule cytoskeleton; nuclear body; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Mitogen-activated protein kinase kinase kinases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000160551
Associated Conditions (12)
See cases
Neurodevelopmental disorder
Developmental delay with or without intellectual impairment or behavioral abnormalities
Inborn genetic diseases
DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
Global developmental delay
TAOK1-related disorder
Neurodevelopmental delay
Global developmental delay with or without impaired intellectual development
Macroglossia
Short 5th finger
Abnormality of the face
Key Variants
RS1347078601
Conflicting classifications of pathogenicity
See cases, Neurodevelopmental disorder, Developmental delay with or without intellectual impairment or behavioral abnormalities
Health Risk
RS2508206186
Conflicting classifications of pathogenicity
Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
Health Risk
RS1191085308
Likely pathogenic
Health Risk
RS2030976698
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2030989355
Likely pathogenic
Inborn genetic diseases, DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES, Inborn genetic diseases
Health Risk
RS2150772064
Likely pathogenic
Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
Health Risk
RS2153024257
Likely pathogenic
Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
Health Risk
RS2153026918
Likely pathogenic
Global developmental delay, Developmental delay with or without intellectual impairment or behavioral abnormalities, Global developmental delay
Health Risk
RS2153026921
Likely pathogenic
Health Risk
RS2153029219
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2508195100
Likely pathogenic
Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
Health Risk
RS2508195156
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1347078601 | Health Risk | Conflicting classifications of pathogenicity | See cases, Neurodevelopmental disorder, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508206186 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS1191085308 | Health Risk | Likely pathogenic | — |
| RS2030976698 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2030989355 | Health Risk | Likely pathogenic | Inborn genetic diseases, DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES, Inborn genetic diseases |
| RS2150772064 | Health Risk | Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2153024257 | Health Risk | Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2153026918 | Health Risk | Likely pathogenic | Global developmental delay, Developmental delay with or without intellectual impairment or behavioral abnormalities, Global developmental delay |
| RS2153026921 | Health Risk | Likely pathogenic | — |
| RS2153029219 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2508195100 | Health Risk | Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508195156 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2508205699 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2508210940 | Health Risk | Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508210953 | Health Risk | Likely pathogenic | TAOK1-related disorder, TAOK1-related disorder |
| RS2508226327 | Health Risk | Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508226400 | Health Risk | Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508257270 | Health Risk | Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508269341 | Health Risk | Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508290977 | Health Risk | Likely pathogenic | TAOK1-related disorder, TAOK1-related disorder |
| RS2508304150 | Health Risk | Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS758340709 | Health Risk | Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS1026063439 | Health Risk | Pathogenic | — |
| RS1359582686 | Health Risk | Pathogenic | TAOK1-related disorder, TAOK1-related disorder |
| RS2031080312 | Health Risk | Pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2031936282 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2150772043 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2150772089 | Health Risk | Pathogenic | — |
| RS2150774757 | Health Risk | Pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2150774814 | Health Risk | Pathogenic | — |
| RS2150774822 | Health Risk | Pathogenic | — |
| RS2153029597 | Health Risk | Pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2153030392 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2508137778 | Health Risk | Pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508268796 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2508291267 | Health Risk | Pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508356671 | Health Risk | Pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS533275090 | Health Risk | Pathogenic | TAOK1-related disorder, TAOK1-related disorder |
| RS865873514 | Health Risk | Pathogenic | — |
| RS1481295744 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental delay with or without intellectual impairment or behavioral abnormalities, Inborn genetic diseases |
| RS2030687889 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2031934299 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Developmental delay with or without intellectual impairment or behavioral abnormalities, Neurodevelopmental disorder |
| RS2153028697 | Health Risk | Pathogenic/Likely pathogenic | Macroglossia, Global developmental delay, Short 5th finger |
| RS2153028699 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508268872 | Health Risk | Pathogenic/Likely pathogenic | TAOK1-related disorder, Inborn genetic diseases, Developmental delay with or without intellectual impairment or behavioral abnormalities |