KIF22 Chromosome 16
Kinesin family member 22
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What This Gene Does
The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000079616
Associated Conditions (4)
Spondyloepimetaphyseal dysplasia with multiple dislocations
KIF22-related disorder
See cases
Inborn genetic diseases
Key Variants
RS1013157217
Conflicting classifications of pathogenicity
Health Risk
RS11545431
Conflicting classifications of pathogenicity
Health Risk
RS1267445233
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations
Health Risk
RS1396521687
Conflicting classifications of pathogenicity
Health Risk
RS145879411
Conflicting classifications of pathogenicity
Health Risk
RS148628152
Conflicting classifications of pathogenicity
Health Risk
RS149860938
Conflicting classifications of pathogenicity
KIF22-related disorder, KIF22-related disorder
Health Risk
RS150774671
Conflicting classifications of pathogenicity
Health Risk
RS201572301
Conflicting classifications of pathogenicity
Health Risk
RS201726114
Conflicting classifications of pathogenicity
Health Risk
RS370133905
Conflicting classifications of pathogenicity
Health Risk
RS372337472
Conflicting classifications of pathogenicity
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1013157217 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS11545431 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1267445233 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations |
| RS1396521687 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145879411 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148628152 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149860938 | Health Risk | Conflicting classifications of pathogenicity | KIF22-related disorder, KIF22-related disorder |
| RS150774671 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201572301 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201726114 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370133905 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372337472 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374331057 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375205158 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377591624 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750463562 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754964560 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756641324 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767054899 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS776568168 | Health Risk | Conflicting classifications of pathogenicity | KIF22-related disorder, KIF22-related disorder |
| RS781023894 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS944418938 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1596854441 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations |
| RS193922920 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations |
| RS193922921 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia with multiple dislocations, Inborn genetic diseases, Spondyloepimetaphyseal dysplasia with multiple dislocations |
| RS2142373200 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations |
| RS751762149 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations |
| RS193922922 | Health Risk | Pathogenic/Likely pathogenic | Spondyloepimetaphyseal dysplasia with multiple dislocations, Inborn genetic diseases, See cases |