KIF5B Chromosome 10
Kinesin family member 5B
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What This Gene Does
Enables identical protein binding activity; microtubule binding activity; and microtubule motor activity. Involved in several processes, including natural killer cell mediated cytotoxicity; positive regulation of protein localization to plasma membrane; and vesicle transport along microtubule. Located in several cellular components, including centriolar satellite; cytosol; and nuclear membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
10p11.22
Ensembl
ENSG00000170759
Associated Conditions (16)
KIF5B-related developmental disorder
6 conditions
Attention deficit hyperactivity disorder
Global developmental delay
Brain atrophy
Seizure
Hypoplasia of the corpus callosum
Feeding difficulties
Intellectual disability
Severe muscular hypotonia
Fatigable weakness of swallowing muscles
Hypertrophic cardiomyopathy
Primary dilated cardiomyopathy
Skeletal myopathy
Ophthalmoplegia
Multiple joint contractures
Key Variants
RS2491866364
Conflicting classifications of pathogenicity
KIF5B-related developmental disorder, 6 conditions, KIF5B-related developmental disorder
Health Risk
RS1114167297
Likely pathogenic
Attention deficit hyperactivity disorder, Global developmental delay, Brain atrophy
Health Risk
RS2491871660
Pathogenic
Feeding difficulties, Intellectual disability, Severe muscular hypotonia
Health Risk
RS1841455410
Pathogenic/Likely pathogenic
Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Skeletal myopathy
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2491866364 | Health Risk | Conflicting classifications of pathogenicity | KIF5B-related developmental disorder, 6 conditions, KIF5B-related developmental disorder |
| RS1114167297 | Health Risk | Likely pathogenic | Attention deficit hyperactivity disorder, Global developmental delay, Brain atrophy |
| RS2491871660 | Health Risk | Pathogenic | Feeding difficulties, Intellectual disability, Severe muscular hypotonia |
| RS1841455410 | Health Risk | Pathogenic/Likely pathogenic | Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Skeletal myopathy |