KIF22 Gene (Kinesin Family Member 22)
KIF22: A microtubule-based motor protein involved in chromosome segregation and implicated in skeletal dysplasia and cancer.
Gene Information Card
| Symbol | KIF22 |
|---|---|
| Full Name | Kinesin Family Member 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 3835 ncbi.nlm.nih.gov/gene/3835 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q14807 |
| OMIM ID | 603213 |
| HGNC ID | 6391 |
| Aliases | KID, KNSL4, OBP-1, OBP1 |
Description
KIF22 (Kinesin Family Member 22) encodes a kinesin-like motor protein that functions as a microtubule-dependent molecular motor. It is involved in chromosome segregation during mitosis and in the transport of organelles. Mutations in KIF22 are associated with autosomal dominant spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) and KIF22-related intellectual disability (KID syndrome). The protein contains an N-terminal motor domain and a C-terminal tail domain that mediates cargo binding.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) | Missense mutations in the motor domain disrupt microtubule binding and ATPase activity, impairing mitotic spindle function. | OMIM #603546; PMID: 25683121 |
| KIF22-related intellectual disability (KID syndrome) | De novo missense mutations (e.g., p.Arg329Cys) alter protein conformation and reduce microtubule affinity, leading to neuronal migration defects. | ClinVar; PMID: 25683121 |
| Neoplasms (various) | Overexpression or mutation may contribute to aneuploidy and tumor progression via defective chromosome segregation. | COSMIC; PMID: 21947003 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebral cortex) | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | High expression in cervical cancer cell line |
| HEK293 | 10.5 | Moderate expression in embryonic kidney cells |
| K562 | 7.8 | Moderate expression in leukemia cell line |
| MCF7 | 5.2 | Low expression in breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.985C>T (p.Arg329Cys) | Missense | Germline (de novo) | Reduced microtubule binding; associated with KID syndrome |
| c.986G>A (p.Arg329His) | Missense | Germline (de novo) | Similar effect as p.Arg329Cys; SEMDJL phenotype |
| c.1100G>A (p.Arg367Gln) | Missense | Somatic (COSMIC) | Unknown functional effect; reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Not clearly established; most pathogenic missense mutations are not null alleles.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Proposed mechanism for SEMDJL and KID syndrome mutations, as mutant KIF22 interferes with wild-type motor function in microtubule binding.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • chromosome segregation |
| • mitotic spindle organization | • intracellular transport |
Pathways
• Kinesin-mediated transport
• Mitotic spindle assembly and chromosome segregation
Protein Summary
KIF22 is a 725-amino acid kinesin motor protein that uses ATP hydrolysis to move along microtubules. It plays a critical role in mitotic chromosome positioning and spindle dynamics. The protein is highly expressed in testis and brain. Pathogenic missense mutations cluster in the motor domain and impair microtubule interaction, leading to skeletal and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF22 Knockout HEK293 Cell Line | EDJ-KQ3496 | Human | 3835 | Details Get a Quote |
| KIF22 Knockout A-549 Cell Line | EDJ-KQ25296 | Human | 3835 | Details Get a Quote |
| KIF22 Knockout HCT 116 Cell Line | EDJ-KQ25297 | Human | 3835 | Details Get a Quote |
| KIF22 Knockout HeLa Cell Line | EDJ-KQ25298 | Human | 3835 | Details Get a Quote |
