KIF24
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Also known as bA571F15.4FLJ10933FLJ43884
Summary
KIF24 (kinesin family member 24, HGNC:19916) is a protein-coding gene on chromosome 9p13.3, encoding Kinesin-like protein KIF24 (Q5T7B8). Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles.
This gene encodes a member of the kinesin superfamily of microtubule-based motor proteins which are involved in the intracellular transport of membranous organelles, protein complexes, and mRNAs. They also play critical roles in mitosis, morphogenesis, and signal transduction. The encoded protein contains an N-terminal sterile alpha motif (SAM) domain and an ATP-binding kinesin motor domain. It binds centriolar coiled coil protein 110 and centrosomal protein 97 and localizes to the mother centriole to regulate ciliogenesis by controlling microtubule polymerization.
Source: NCBI Gene 347240 — RefSeq curated summary.
At a glance
- Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 224 total — 2 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_194313
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19916 |
| Approved symbol | KIF24 |
| Name | kinesin family member 24 |
| Location | 9p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bA571F15.4, FLJ10933, FLJ43884 |
| Ensembl gene | ENSG00000186638 |
| Ensembl biotype | protein_coding |
| OMIM | 613747 |
| Entrez | 347240 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000379174, ENST00000402558, ENST00000684219, ENST00000911288, ENST00000911290, ENST00000911291
RefSeq mRNA: 1 — MANE Select: NM_194313
NM_194313
CCDS: CCDS6551
Canonical transcript exons
ENST00000402558 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001379669 | 34255072 | 34255165 |
| ENSE00001388363 | 34255735 | 34257981 |
| ENSE00001597400 | 34290174 | 34290389 |
| ENSE00001606085 | 34269257 | 34269362 |
| ENSE00001617010 | 34271809 | 34271930 |
| ENSE00001662467 | 34259596 | 34259705 |
| ENSE00001682992 | 34263101 | 34263172 |
| ENSE00001701045 | 34306252 | 34306441 |
| ENSE00001769105 | 34297017 | 34297114 |
| ENSE00001787244 | 34286617 | 34286704 |
| ENSE00002323872 | 34310724 | 34311371 |
| ENSE00003919348 | 34252380 | 34254520 |
| ENSE00003919747 | 34329106 | 34329268 |
Expression profiles
Bgee: expression breadth ubiquitous, 129 present calls, max score 83.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8508 / max 76.2733, expressed in 1145 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 100493 | 3.8508 | 1145 |
Top tissues by expression
132 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.73 | gold quality |
| ventricular zone | UBERON:0003053 | 80.91 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.75 | gold quality |
| testis | UBERON:0000473 | 75.83 | gold quality |
| right testis | UBERON:0004534 | 75.40 | gold quality |
| left testis | UBERON:0004533 | 75.28 | gold quality |
| right uterine tube | UBERON:0001302 | 73.82 | gold quality |
| ganglionic eminence | UBERON:0004023 | 73.47 | gold quality |
| stromal cell of endometrium | CL:0002255 | 70.61 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 68.69 | gold quality |
| bone marrow cell | CL:0002092 | 66.74 | silver quality |
| bone marrow | UBERON:0002371 | 66.32 | gold quality |
| fallopian tube | UBERON:0003889 | 63.50 | gold quality |
| placenta | UBERON:0001987 | 61.87 | gold quality |
| endometrium | UBERON:0001295 | 61.26 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 61.00 | gold quality |
| vermiform appendix | UBERON:0001154 | 60.80 | gold quality |
| rectum | UBERON:0001052 | 60.74 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 60.55 | gold quality |
| right adrenal gland | UBERON:0001233 | 60.31 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 60.30 | gold quality |
| lymph node | UBERON:0000029 | 59.63 | gold quality |
| colonic epithelium | UBERON:0000397 | 59.59 | gold quality |
| tonsil | UBERON:0002372 | 59.55 | gold quality |
| gastrocnemius | UBERON:0001388 | 59.54 | gold quality |
| muscle tissue | UBERON:0002385 | 59.53 | gold quality |
| muscle of leg | UBERON:0001383 | 59.22 | gold quality |
| nucleus accumbens | UBERON:0001882 | 59.07 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 58.79 | gold quality |
| esophagus mucosa | UBERON:0002469 | 58.52 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.08 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
115 targeting KIF24, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
Literature-anchored findings (GeneRIF, showing 4)
- KIF24 rs17350674 polymorphism likely acts as a risk factor for sporadic Lobar Degeneration (PMID:20670673)
- Study found that loss of Kif24 leads to the disappearance of CP110 from mother centrioles in cycling cells able to form cilia; thus, identifying a centriolar kinesin that specifically remodels a subset of microtubules, thereby regulating cilia assembly. (PMID:21620453)
- Kif24 is a physiological substrate of Nek2, which regulates cilia disassembly through a concerted mechanism involving Kif24-mediated microtubule depolymerization. (PMID:26290419)
- Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. (PMID:35748595)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Kif24 | ENSMUSG00000028438 |
| rattus_norvegicus | Kif24 | ENSRNOG00000012735 |
| drosophila_melanogaster | Klp10A | FBGN0030268 |
| drosophila_melanogaster | Klp59C | FBGN0034824 |
| drosophila_melanogaster | Klp59D | FBGN0034827 |
| caenorhabditis_elegans | WBGENE00002219 |
Paralogs (41): KIF1B (ENSG00000054523), KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), KIF3C (ENSG00000084731), KIF9 (ENSG00000088727), KIF16B (ENSG00000089177), KIF4A (ENSG00000090889), KIF3B (ENSG00000101350), KIF20A (ENSG00000112984), KIF21B (ENSG00000116852), KIF17 (ENSG00000117245), KIF14 (ENSG00000118193), KIF18A (ENSG00000121621), KIF25 (ENSG00000125337), KIF1C (ENSG00000129250), KIF1A (ENSG00000130294), KIF3A (ENSG00000131437), KIF12 (ENSG00000136883), KIF13A (ENSG00000137177), KIF23 (ENSG00000137807), KIF11 (ENSG00000138160), CENPE (ENSG00000138778), KIF21A (ENSG00000139116), KIFC3 (ENSG00000140859), KIF2B (ENSG00000141200), KIF2C (ENSG00000142945), KIF5A (ENSG00000155980), KIF26B (ENSG00000162849), KIF15 (ENSG00000163808), KIF6 (ENSG00000164627), KIF27 (ENSG00000165115), KIF7 (ENSG00000166813), KIFC2 (ENSG00000167702), KIF5C (ENSG00000168280), KIF5B (ENSG00000170759), KIF18B (ENSG00000186185), KIF19 (ENSG00000196169), KIF13B (ENSG00000197892), KIF4B (ENSG00000226650)
Protein
Protein identifiers
Kinesin-like protein KIF24 — Q5T7B8 (reviewed: Q5T7B8)
All UniProt accessions (2): A0A804HHR8, Q5T7B8
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles. Mediates depolymerization of microtubules of centriolar origin, possibly to suppress aberrant cilia formation. Following activation by NEK2 involved in disassembly of primary cilium during G2/M phase but does not disassemble fully formed ciliary axonemes. As cilium assembly and disassembly is proposed to coexist in a dynamic equilibrium may suppress nascent cilium assembly and, potentially, ciliar re-assembly in cells that have already disassembled their cilia ensuring the completion of cilium removal in the later stages of the cell cycle. Plays an important role in recruiting MPHOSPH9, a negative regulator of cilia formation to the distal end of mother centriole.
Subunit / interactions. Interacts with CCP110, CEP97, TALPID3. Interacts with MPHOSPH9.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T7B8-1 | 1 | yes |
| Q5T7B8-2 | 2 | |
| Q5T7B8-3 | 3 | |
| Q5T7B8-4 | 4 |
RefSeq proteins (1): NP_919289* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001660 | SAM | Domain |
| IPR001752 | Kinesin_motor_dom | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR019821 | Kinesin_motor_CS | Conserved_site |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR027640 | Kinesin-like_fam | Family |
| IPR036961 | Kinesin_motor_dom_sf | Homologous_superfamily |
Pfam: PF00225, PF00536
UniProt features (45 total): region of interest 11, modified residue 10, compositionally biased region 7, sequence variant 6, splice variant 4, mutagenesis site 3, domain 2, chain 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T7B8-F1 | 52.18 | 0.18 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 313–320
Post-translational modifications (10): 102, 112, 478, 584, 621, 622, 646, 826, 829, 1012
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 263–264 | impairs ability to suppress cilia formation. |
| 483–485 | impairs ability to suppress cilia formation. |
| 621–622 | reduces phosphorylation by nek2 and abolishes ability to suppress cilia formation. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| R-HSA-1852241 | Organelle biogenesis and maintenance |
| R-HSA-5617833 | Cilium Assembly |
MSigDB gene sets: 111 (showing top):
GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_MICROTUBULE_DEPOLYMERIZATION, GOBP_CILIUM_ORGANIZATION, chr9p13, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_PROTEIN_DEPOLYMERIZATION, FISCHER_DREAM_TARGETS
GO Biological Process (5): microtubule-based movement (GO:0007018), microtubule depolymerization (GO:0007019), cilium assembly (GO:0060271), negative regulation of cilium assembly (GO:1902018), cell projection organization (GO:0030030)
GO Molecular Function (6): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), identical protein binding (GO:0042802), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (7): centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), microtubule (GO:0005874), protein-containing complex (GO:0032991), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Assembly of the 9+0 primary cilium | 1 |
| Organelle biogenesis and maintenance | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule organizing center | 2 |
| intracellular membraneless organelle | 2 |
| cellular anatomical structure | 2 |
| microtubule-based process | 1 |
| microtubule polymerization or depolymerization | 1 |
| protein depolymerization | 1 |
| supramolecular fiber organization | 1 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| cilium assembly | 1 |
| negative regulation of plasma membrane bounded cell projection assembly | 1 |
| regulation of cilium assembly | 1 |
| negative regulation of organelle assembly | 1 |
| cellular component organization | 1 |
| cytoskeletal motor activity | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| ATP-dependent activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| tubulin binding | 1 |
| protein binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| centriole | 1 |
| cytoplasm | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| cellular_component | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1330 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIF24 | CCP110 | O43303 | 886 |
| KIF24 | CEP97 | Q8IW35 | 861 |
| KIF24 | CEP290 | O15078 | 677 |
| KIF24 | TTBK2 | Q6IQ55 | 606 |
| KIF24 | NEK2 | P51955 | 599 |
| KIF24 | CEP164 | Q9UPV0 | 572 |
| KIF24 | HDAC6 | Q9UBN7 | 556 |
| KIF24 | UBAP1 | Q9NZ09 | 528 |
| KIF24 | KIAA0586 | Q9BVV6 | 507 |
| KIF24 | CEP104 | O60308 | 501 |
| KIF24 | CEP83 | Q9Y592 | 481 |
| KIF24 | SPATA9 | Q9BWV2 | 459 |
| KIF24 | ARL13B | Q3SXY8 | 459 |
| KIF24 | CIMAP3 | Q8TCI5 | 452 |
| KIF24 | PLK1 | P53350 | 449 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEP97 | CCP110 | psi-mi:“MI:0914”(association) | 0.950 |
| KIF24 | CCP110 | psi-mi:“MI:0914”(association) | 0.810 |
| KIF24 | CCP110 | psi-mi:“MI:0915”(physical association) | 0.810 |
| KIF24 | CEP97 | psi-mi:“MI:0915”(physical association) | 0.810 |
| CCP110 | KIF24 | psi-mi:“MI:0914”(association) | 0.810 |
| CEP76 | CEP290 | psi-mi:“MI:0914”(association) | 0.740 |
| CEP97 | CEP290 | psi-mi:“MI:0914”(association) | 0.740 |
| KIF24 | NEK2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| NEK2 | KIF24 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.620 |
| NEK2 | KIF24 | psi-mi:“MI:0403”(colocalization) | 0.620 |
| KIAA0586 | CCP110 | psi-mi:“MI:0914”(association) | 0.560 |
| KIF24 | KIF24 | psi-mi:“MI:0915”(physical association) | 0.540 |
| KIF24 | KIF24 | psi-mi:“MI:1126”(self interaction) | 0.540 |
| Cdk1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Plk1 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (48): KIF24 (Two-hybrid), JAK1 (Affinity Capture-MS), CEP97 (Affinity Capture-MS), DOT1L (Affinity Capture-MS), RPS19BP1 (Affinity Capture-MS), KIF24 (Affinity Capture-MS), KIF24 (Affinity Capture-MS), KIF24 (Affinity Capture-MS), KIF24 (Affinity Capture-RNA), KIF24 (Two-hybrid), KIF24 (Two-hybrid), KIF24 (Two-hybrid), KIF24 (Two-hybrid), KIF24 (Two-hybrid), KIF24 (Two-hybrid)
ESM2 similar proteins: A0JM98, A1L1H3, A4Q9E8, A4Q9F0, A4Q9F6, A6NNM8, A7MBJ2, A8CVX7, D3ZF42, O54928, O75159, O88866, P51957, P57058, P59110, Q08D35, Q0P4M4, Q14679, Q29RN6, Q5NC05, Q5QJC4, Q5R978, Q5RHD1, Q5SUS0, Q5T7B8, Q63679, Q68UT7, Q6EEF3, Q6EMB2, Q6GQJ2, Q6IE81, Q6IE82, Q6IRU7, Q6NWW5, Q6P1H6, Q6P7W0, Q6PCM1, Q6PJP8, Q6ZPI0, Q7TP65
Diamond homologs: A0A068FIK2, A1ZAJ2, A6H750, A8BKD1, B7EJ91, B7ZNG0, B9EY52, B9F2Y7, B9F7C8, B9FMJ3, E2RTQ2, F1M4A4, F4ICA0, F4IIS5, F4K0J3, L0N7N1, O00139, O14343, O15066, O23826, O35071, O35787, O43896, O45935, O59751, O60282, O95239, P21613, P23678, P28740, P28741, P33173, P33174, P33176, P46863, P46867, P46874, P53086, P70096, P82266
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NEK2 | “up-regulates activity” | KIF24 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
224 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 174 |
| Likely benign | 18 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1217223 | NM_194313.4(KIF24):c.1565A>G (p.Asn522Ser) | Pathogenic |
| 1328460 | GRCh37/hg19 9p13.3(chr9:34196100-34261664)x1 | Pathogenic |
SpliceAI
2642 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:34255070:A:AC | donor_gain | 1.0000 |
| 9:34255071:C:CT | donor_gain | 1.0000 |
| 9:34255071:CA:C | donor_gain | 1.0000 |
| 9:34259593:T:TG | donor_loss | 1.0000 |
| 9:34259594:A:AC | donor_gain | 1.0000 |
| 9:34259594:AC:A | donor_gain | 1.0000 |
| 9:34259595:C:CG | donor_gain | 1.0000 |
| 9:34259595:CC:C | donor_gain | 1.0000 |
| 9:34259595:CCG:C | donor_gain | 1.0000 |
| 9:34259595:CCGG:C | donor_gain | 1.0000 |
| 9:34259595:CCGGT:C | donor_gain | 1.0000 |
| 9:34259701:AGGAC:A | acceptor_gain | 1.0000 |
| 9:34259702:GGAC:G | acceptor_gain | 1.0000 |
| 9:34259703:GAC:G | acceptor_gain | 1.0000 |
| 9:34259704:AC:A | acceptor_gain | 1.0000 |
| 9:34259705:CC:C | acceptor_gain | 1.0000 |
| 9:34259705:CCTG:C | acceptor_loss | 1.0000 |
| 9:34259706:C:A | acceptor_loss | 1.0000 |
| 9:34259706:C:CC | acceptor_gain | 1.0000 |
| 9:34259707:T:A | acceptor_loss | 1.0000 |
| 9:34259711:C:CT | acceptor_gain | 1.0000 |
| 9:34259711:C:T | acceptor_gain | 1.0000 |
| 9:34259712:A:T | acceptor_gain | 1.0000 |
| 9:34259716:C:CT | acceptor_gain | 1.0000 |
| 9:34259717:A:T | acceptor_gain | 1.0000 |
| 9:34269255:A:AC | donor_gain | 1.0000 |
| 9:34269256:C:CC | donor_gain | 1.0000 |
| 9:34269256:CAG:C | donor_gain | 1.0000 |
| 9:34271803:GCTCA:G | donor_loss | 1.0000 |
| 9:34271804:CTCA:C | donor_loss | 1.0000 |
AlphaMissense
9002 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:34259596:C:G | R542P | 0.999 |
| 9:34263122:G:C | F498L | 0.999 |
| 9:34263122:G:T | F498L | 0.999 |
| 9:34263124:A:G | F498L | 0.999 |
| 9:34263154:C:G | A488P | 0.999 |
| 9:34263156:C:G | R487P | 0.999 |
| 9:34263167:C:A | K483N | 0.999 |
| 9:34263167:C:G | K483N | 0.999 |
| 9:34263171:A:G | L482P | 0.999 |
| 9:34269261:A:G | L480P | 0.999 |
| 9:34269264:A:G | L479P | 0.999 |
| 9:34269266:A:C | S478R | 0.999 |
| 9:34269266:A:T | S478R | 0.999 |
| 9:34269268:T:G | S478R | 0.999 |
| 9:34269345:A:G | L452S | 0.999 |
| 9:34306379:C:G | R229P | 0.999 |
| 9:34306382:A:T | V228D | 0.999 |
| 9:34259602:G:T | A540D | 0.998 |
| 9:34259608:C:G | R538P | 0.998 |
| 9:34259620:A:G | L534P | 0.998 |
| 9:34259659:G:T | A521D | 0.998 |
| 9:34259701:A:G | L507P | 0.998 |
| 9:34263113:G:C | S501R | 0.998 |
| 9:34263113:G:T | S501R | 0.998 |
| 9:34263115:T:G | S501R | 0.998 |
| 9:34263120:C:A | R499M | 0.998 |
| 9:34263120:C:G | R499T | 0.998 |
| 9:34269276:A:T | I475K | 0.998 |
| 9:34269335:A:C | S455R | 0.998 |
| 9:34269335:A:T | S455R | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000015497 (9:34326798 G>A), RS1000029224 (9:34287586 A>C), RS1000100338 (9:34278461 C>A), RS1000120988 (9:34285584 C>A,T), RS1000156318 (9:34327218 G>A), RS1000162852 (9:34285188 TTAA>T), RS1000203599 (9:34291375 C>T), RS1000272276 (9:34333381 C>G,T), RS1000272854 (9:34307958 T>C), RS1000362392 (9:34297500 C>T), RS1000383992 (9:34270905 C>G), RS1000409862 (9:34332807 A>C), RS1000425278 (9:34284851 C>T), RS1000480790 (9:34331370 T>C), RS1000518675 (9:34289736 T>C)
Disease associations
OMIM: gene MIM:613747 | disease phenotypes: MIM:613091
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| schizophrenia | No Known Disease Relationship | Unknown |
Mondo (3): asphyxiating thoracic dystrophy 3 (MONDO:0013127), peripheral neuropathy (MONDO:0005244), schizophrenia (MONDO:0005090)
Orphanet (4): Jeune syndrome (Orphanet:474), Short rib-polydactyly syndrome, Majewski type (Orphanet:93269), Short rib-polydactyly syndrome, Saldino-Noonan type (Orphanet:93270), Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008789_7 | Adolescent idiopathic scoliosis | 2.000000e-09 |
| GCST010136_34 | Fruit consumption | 4.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008111 | diet measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C537602 | Short rib-polydactyly syndrome, Verma-Naumoff type (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3879840 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | decreases expression, decreases methylation | 3 |
| sodium arsenite | increases abundance, increases expression, affects cotreatment, decreases expression | 2 |
| (+)-JQ1 compound | decreases expression, affects cotreatment | 2 |
| Cisplatin | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| propionaldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| coumarin | affects phosphorylation | 1 |
| polyhexamethyleneguanidine | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| abrine | increases expression | 1 |
| mirdametinib | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Troglitazone | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Oxygen | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Testosterone | decreases expression, affects cotreatment | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3860194 | Binding | Inhibition of basal ATPase activity of human Kif24 at 200 uM by pyruvate kinase/lactate dehydrogenase-linked assay | Depsidones from Lichens as Natural Product Inhibitors of M-Phase Phosphoprotein 1, a Human Kinesin Required for Cytokinesis. — J Nat Prod |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9HZ | Ubigene HEK293 KIF24 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
600 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00000374 | PHASE4 | COMPLETED | Treatment for First-Episode Schizophrenia |
| NCT00001656 | PHASE4 | COMPLETED | Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders |
| NCT00007774 | PHASE4 | COMPLETED | To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia |
| NCT00014001 | PHASE4 | COMPLETED | CATIE- Schizophrenia Trial |
| NCT00018668 | PHASE4 | COMPLETED | Antipsychotic Response in Schizophrenia |
| NCT00034801 | PHASE4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia |
| NCT00034905 | PHASE4 | COMPLETED | A Comparison of Seroquel vs. Risperidone in Schizophrenia |
| NCT00036088 | PHASE4 | COMPLETED | Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia |
| NCT00044187 | PHASE4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044655 | PHASE4 | COMPLETED | Switching Medication to Treat Schizophrenia |
| NCT00048828 | PHASE4 | COMPLETED | Treating Drug-Resistant Childhood Schizophrenia |
| NCT00053703 | PHASE4 | COMPLETED | Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) |
| NCT00056498 | PHASE4 | COMPLETED | Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine |
| NCT00061802 | PHASE4 | COMPLETED | Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder |
| NCT00080327 | PHASE4 | COMPLETED | Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia |
| NCT00088049 | PHASE4 | COMPLETED | Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia |
| NCT00090012 | PHASE4 | COMPLETED | Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00100776 | PHASE4 | COMPLETED | Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder |
| NCT00103571 | PHASE4 | COMPLETED | Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia |
| NCT00108368 | PHASE4 | COMPLETED | The Effects of Risperidone and Olanzapine on Thinking |
| NCT00114595 | PHASE4 | COMPLETED | Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia |
| NCT00130923 | PHASE4 | COMPLETED | Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder |
| NCT00137020 | PHASE4 | COMPLETED | Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder |
| NCT00140166 | PHASE4 | COMPLETED | Treatment of Acute Schizophrenia With Vitamin Therapy |
| NCT00145847 | PHASE4 | COMPLETED | Naltrexone Treatment of Alcohol Abuse in Schizophrenia |
| NCT00148564 | PHASE4 | COMPLETED | Energy Homeostasis Under Treatment With Atypical Antipsychotics |
| NCT00156715 | PHASE4 | COMPLETED | Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder |
| NCT00158223 | PHASE4 | COMPLETED | Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia |
| NCT00159081 | PHASE4 | COMPLETED | One Year Drug Treatment in First-Episode Schizophrenia |
| NCT00159120 | PHASE4 | COMPLETED | Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia |
| NCT00159133 | PHASE4 | COMPLETED | Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia |
| NCT00159757 | PHASE4 | TERMINATED | 12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients |
| NCT00167817 | PHASE4 | COMPLETED | Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study |
| NCT00169026 | PHASE4 | TERMINATED | Alcoholism and Schizophrenia: Effects of Clozapine |
| NCT00169039 | PHASE4 | TERMINATED | Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia |
| NCT00169065 | PHASE4 | COMPLETED | Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia |
| NCT00169091 | PHASE4 | TERMINATED | Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia |
| NCT00176423 | PHASE4 | COMPLETED | Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia |
| NCT00176436 | PHASE4 | COMPLETED | Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients |
| NCT00177008 | PHASE4 | COMPLETED | Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety |
Related Atlas pages
- Associated diseases: schizophrenia
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): adolescent idiopathic scoliosis, asphyxiating thoracic dystrophy 3, peripheral neuropathy