KIF11 Chromosome 10
Kinesin family member 11
Upload your DNA to see your personal genotypes for variants in KIF11.
What This Gene Does
This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
10q23.33
Ensembl
ENSG00000138160
Associated Conditions (20)
Microcephaly with or without chorioretinopathy
lymphedema
or intellectual disability
Inborn genetic diseases
Exudative vitreoretinopathy 1
CTCF-related neurodevelopmental disorder
Optic atrophy
Retinal dystrophy
Hereditary ataxia
Retinal dysplasia
Microcephaly
Lymphedema
Neurodevelopmental disorder
KIF11-related disorder
Malignant tumor of urinary bladder
Retinitis pigmentosa
Microcephaly and chorioretinopathy 1
lymphedema or intellectual disability (MCLID)
Syndromic retinitis pigmentosa
Neurodevelopmental delay
Key Variants
RS1235363221
Conflicting classifications of pathogenicity
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Health Risk
RS1249211050
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140534766
Conflicting classifications of pathogenicity
Health Risk
RS1554861545
Conflicting classifications of pathogenicity
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Health Risk
RS1564704121
Conflicting classifications of pathogenicity
Health Risk
RS1589597598
Conflicting classifications of pathogenicity
CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
Health Risk
RS1844616530
Conflicting classifications of pathogenicity
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Health Risk
RS1844763810
Conflicting classifications of pathogenicity
Health Risk
RS189734472
Conflicting classifications of pathogenicity
Health Risk
RS200410468
Conflicting classifications of pathogenicity
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Health Risk
RS201865099
Conflicting classifications of pathogenicity
Hereditary ataxia, Hereditary ataxia
Health Risk
RS374124829
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (168)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786205900 | Health Risk | Pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
| RS797045649 | Health Risk | Pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
| RS797045650 | Health Risk | Pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
| RS797045651 | Health Risk | Pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
| RS886041462 | Health Risk | Pathogenic | — |
| RS886041477 | Health Risk | Pathogenic | — |
| RS1214257415 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1227480400 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
| RS1554858130 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1589590737 | Health Risk | Pathogenic/Likely pathogenic | Syndromic retinitis pigmentosa, Microcephaly with or without chorioretinopathy, lymphedema |
| RS1589600660 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1844462368 | Health Risk | Pathogenic/Likely pathogenic | KIF11-related disorder, KIF11-related disorder |
| RS1844845643 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
| RS1844907904 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
| RS1844909478 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2135892544 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2135905068 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, Microcephaly with or without chorioretinopathy, lymphedema |
| RS2492482259 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |