KIF14: A Kinesin Family Member with Roles in Cell Division and Cancer
Comprehensive genomic and functional overview of KIF14, a mitotic kinesin implicated in ciliopathies and tumorigenesis.
Gene Information Card
| Symbol | KIF14 |
|---|---|
| Full Name | kinesin family member 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 9928 ncbi.nlm.nih.gov/gene/9928 |
| Ensembl ID | ENSG00000118193 |
| UniProt ID | Q15058 |
| OMIM ID | 611279 |
| HGNC ID | 19181 |
| Aliases | KIAA0042, MKS12 |
Description
KIF14 (kinesin family member 14) encodes a microtubule-based motor protein belonging to the kinesin-3 family. It is essential for cytokinesis, mitotic spindle assembly, and chromosome segregation. KIF14 interacts with citron kinase and localizes to the central spindle and midbody. Loss-of-function mutations cause Meckel syndrome type 12 (MKS12), a severe ciliopathy. Overexpression of KIF14 is observed in multiple cancers and is associated with poor prognosis, likely due to chromosomal instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meckel syndrome 12 (MKS12) | Loss-of-function mutations in KIF14 disrupt ciliary function and cytokinesis, leading to developmental defects. | OMIM #611279; ClinVar |
| Breast cancer | KIF14 overexpression promotes proliferation and chromosomal instability. | COSMIC; PMID: 22952446 |
| Lung cancer | Upregulation of KIF14 correlates with poor survival and increased tumor growth. | COSMIC; PMID: 23382250 |
| Ovarian cancer | High KIF14 expression linked to aggressive disease and chemoresistance. | COSMIC; PMID: 25670057 |
| Hepatocellular carcinoma | KIF14 overexpression drives cell cycle progression and metastasis. | COSMIC; PMID: 26908320 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Bone marrow | 22.1 | Medium |
| Lymph node | 18.5 | Medium |
| Brain | 5.3 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.6 | Cervical cancer cell line; high expression |
| A549 | 28.4 | Lung cancer cell line; moderate-high |
| MCF7 | 22.1 | Breast cancer cell line; moderate |
| HEK293 | 12.3 | Embryonic kidney; low-moderate |
| K562 | 45.0 | Leukemia cell line; high |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function; associated with MKS12 |
| c.1090G>A (p.Gly364Arg) | Missense | Rare | Likely damaging; reported in ciliopathy |
| c.1843C>T (p.Arg615Trp) | Missense | Rare | Uncertain significance |
| c.3280G>A (p.Glu1094Lys) | Missense | Rare | Reported in COSMIC; potential gain of function in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg76*) lead to truncated protein, loss of motor activity, and cause Meckel syndrome 12.
Gain of Function (GOF)
Overexpression and certain missense variants (e.g., p.Glu1094Lys) may enhance microtubule binding or processivity, contributing to cancer cell proliferation.
Dominant Negative (DN)
Not clearly established; some missense variants may interfere with wild-type KIF14 function in cytokinesis.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • ATP binding (GO:0005524) |
| • microtubule binding (GO:0008017) | • microtubule (GO:0005874) |
| • cytokinesis (GO:0000910) | • cell division (GO:0051301) |
| • mitotic nuclear division (GO:0007067) | • cell projection organization (GO:0030030) |
Pathways
• Kinesin-mediated transport
• Cell cycle
• mitotic
• Cytokinesis
Protein Summary
KIF14 is a 1,648-amino acid kinesin-3 family motor protein with an N-terminal motor domain, a central coiled-coil stalk, and a C-terminal tail. It moves along microtubules toward the plus end, transporting cargoes essential for cytokinesis and ciliogenesis. The protein localizes to the central spindle and midbody during mitosis, interacting with citron kinase to ensure proper abscission. In cilia, KIF14 is required for intraflagellar transport and Hedgehog signaling. Dysregulation leads to ciliopathy or cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF14 Knockout HEK293 Cell Line | EDJ-KQ6827 | Human | 9928 | Details Get a Quote |
| KIF14 Knockout A-549 Cell Line | EDJ-KQ30001 | Human | 9928 | Details Get a Quote |
| KIF14 Knockout HCT 116 Cell Line | EDJ-KQ31363 | Human | 9928 | Details Get a Quote |
| KIF14 Knockout HeLa Cell Line | EDJ-KQ31364 | Human | 9928 | Details Get a Quote |
