KIF12: Kinesin Family Member 12
A kinesin motor protein involved in ciliary transport and associated with ciliopathies and cancer.
Gene Information Card
| Symbol | KIF12 |
|---|---|
| Full Name | kinesin family member 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q32 |
| NCBI Gene ID | 113220 ncbi.nlm.nih.gov/gene/113220 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q96FK6 |
| OMIM ID | 611278 |
| HGNC ID | 29586 |
| Aliases | FLJ10718, MGC138290 |
Description
KIF12 (kinesin family member 12) encodes a member of the kinesin superfamily of microtubule-based motor proteins. KIF12 is involved in intraflagellar transport (IFT) and is essential for the formation and maintenance of primary cilia. Mutations in KIF12 are associated with nephronophthisis-related ciliopathies and have been implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis | Loss of KIF12 function disrupts ciliary transport in renal epithelial cells, leading to cyst formation and fibrosis. | OMIM #611278; PMID: 32041962 |
| Ciliopathy (general) | Defective ciliary assembly and signaling due to impaired IFT. | UniProt; PMID: 27768893 |
| Hepatocellular carcinoma | Altered KIF12 expression may contribute to tumor progression via ciliary dysfunction. | COSMIC; PMID: 31570889 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 8.2 | Medium |
| Liver | 6.5 | Medium |
| Testis | 4.1 | Low |
| Brain | 2.3 | Low |
| Heart | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.9 | Embryonic kidney cells |
| HepG2 | 6.1 | Hepatocellular carcinoma cells |
| A549 | 3.4 | Lung carcinoma cells |
| K562 | 1.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function; truncation of motor domain |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Likely damaging; affects ATP binding |
| c.1012_1013del (p.Leu338fs) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg42*, p.Leu338fs) cause loss of motor activity and ciliary transport defects.
Gain of Function (GOF)
No gain-of-function mutations reported in KIF12.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg166Gln) may act as dominant-negative by disrupting motor function without complete loss.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • ATP binding (GO:0005524) |
| • microtubule-based movement (GO:0007018) | • intraciliary transport (GO:0035721) |
| • cilium assembly (GO:0060271) |
Pathways
• Intraflagellar transport (IFT)
• Ciliary assembly and disassembly
• Hedgehog signaling (ciliary-dependent)
Protein Summary
KIF12 is a kinesin motor protein that moves along microtubules using ATP hydrolysis. It is a component of the intraflagellar transport (IFT) machinery, essential for the bidirectional movement of cargo within cilia. The protein contains an N-terminal motor domain and a C-terminal tail domain. Defects in KIF12 lead to impaired ciliary function, resulting in nephronophthisis and other ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF12 Knockout HEK293 Cell Line | EDJ-KQ7413 | Human | 113220 | Details Get a Quote |
| KIF12 Knockout A-549 Cell Line | EDJ-KQ32589 | Human | 113220 | Details Get a Quote |
| KIF12 Knockout HCT 116 Cell Line | EDJ-KQ32590 | Human | 113220 | Details Get a Quote |
| KIF12 Knockout HeLa Cell Line | EDJ-KQ57905 | Human | 113220 | Details Get a Quote |
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