KIF3C
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Summary
KIF3C (kinesin family member 3C, HGNC:6321) is a protein-coding gene on chromosome 2p23.3, encoding Kinesin-like protein KIF3C (O14782). Microtubule-based anterograde translocator for membranous organelles.
Predicted to enable ATP hydrolysis activity; microtubule binding activity; and microtubule motor activity. Predicted to be involved in microtubule-based movement. Predicted to be located in microtubule cytoskeleton; neuronal cell body; and neuronal ribonucleoprotein granule. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm and microtubule.
Source: NCBI Gene 3797 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 114 total
- Druggable target: yes
- MANE Select transcript:
NM_002254
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6321 |
| Approved symbol | KIF3C |
| Name | kinesin family member 3C |
| Location | 2p23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000084731 |
| Ensembl biotype | protein_coding |
| OMIM | 602845 |
| Entrez | 3797 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 3 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000264712, ENST00000405914, ENST00000417737, ENST00000455394, ENST00000475453, ENST00000488341, ENST00000496378, ENST00000852054
RefSeq mRNA: 1 — MANE Select: NM_002254
NM_002254
CCDS: CCDS1719
Canonical transcript exons
ENST00000264712 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000962985 | 25951789 | 25951905 |
| ENSE00001753692 | 25980373 | 25982497 |
| ENSE00003500686 | 25929305 | 25929477 |
| ENSE00003513476 | 25929955 | 25930063 |
| ENSE00003545553 | 25956343 | 25956444 |
| ENSE00003555909 | 25926598 | 25929071 |
| ENSE00003623752 | 25955541 | 25955663 |
| ENSE00003685467 | 25954267 | 25954385 |
Expression profiles
Bgee: expression breadth ubiquitous, 208 present calls, max score 98.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3177 / max 349.0110, expressed in 1647 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27406 | 5.9108 | 1470 |
| 27410 | 5.4671 | 1426 |
| 27405 | 0.4847 | 198 |
| 27407 | 0.4551 | 231 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 98.99 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.44 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 97.19 | gold quality |
| pons | UBERON:0000988 | 97.11 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.07 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.01 | gold quality |
| frontal cortex | UBERON:0001870 | 96.33 | gold quality |
| frontal pole | UBERON:0002795 | 96.14 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.85 | gold quality |
| neocortex | UBERON:0001950 | 95.78 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.75 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.57 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.55 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 95.52 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.51 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 95.46 | gold quality |
| parietal lobe | UBERON:0001872 | 95.23 | gold quality |
| cerebral cortex | UBERON:0000956 | 95.21 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.60 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.52 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 94.50 | gold quality |
| entorhinal cortex | UBERON:0002728 | 94.43 | gold quality |
| telencephalon | UBERON:0001893 | 93.93 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.91 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.88 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.65 | gold quality |
| cerebellum | UBERON:0002037 | 93.55 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.46 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.45 | gold quality |
| temporal lobe | UBERON:0001871 | 93.44 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.87 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
148 targeting KIF3C, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
Literature-anchored findings (GeneRIF, showing 6)
- FMRP acts also as a molecular adaptor between RNA granules and the neurospecific kinesin KIF3C. (PMID:17881655)
- Results suggest that high expression of KIF3C in breast cancer may be associated with tumor progression and metastasis. (PMID:26272184)
- KIF3C is associated with favorable prognosis in glioma patients and may be regulated by PI3K/AKT/mTOR pathway. (PMID:32020481)
- KIF3C Promotes Proliferation, Migration, and Invasion of Glioma Cells by Activating the PI3K/AKT Pathway and Inducing EMT. (PMID:33150178)
- Kinesin family member 3C (KIF3C) is a novel non-small cell lung cancer (NSCLC) oncogene whose expression is modulated by microRNA-150-5p (miR-150-5p) and microRNA-186-3p (miR-186-3p). (PMID:34193018)
- Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis. (PMID:37752101)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kif3ca | ENSDARG00000017162 |
| danio_rerio | kif3cb | ENSDARG00000079500 |
| mus_musculus | Kif3c | ENSMUSG00000020668 |
| rattus_norvegicus | Kif3c | ENSRNOG00000011394 |
| drosophila_melanogaster | Klp68D | FBGN0004381 |
| caenorhabditis_elegans | WBGENE00002222 |
Paralogs (41): KIF1B (ENSG00000054523), KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), 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), KIF24 (ENSG00000186638), KIF19 (ENSG00000196169), KIF13B (ENSG00000197892), KIF4B (ENSG00000226650)
Protein
Protein identifiers
Kinesin-like protein KIF3C — O14782 (reviewed: O14782)
All UniProt accessions (4): O14782, A2RU78, F8WAR6, F8WER6
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule-based anterograde translocator for membranous organelles.
Subunit / interactions. Heterodimer of KIF3A and KIF3C.
Subcellular location. Cytoplasm. Cytoskeleton.
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily.
RefSeq proteins (1): NP_002245* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001752 | Kinesin_motor_dom | Domain |
| 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
UniProt features (46 total): strand 13, helix 12, sequence conflict 5, region of interest 4, turn 3, compositionally biased region 3, sequence variant 2, chain 1, domain 1, binding site 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3B6V | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14782-F1 | 70.40 | 0.24 |
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): 97–104
Function
Pathways and Gene Ontology
Reactome pathways
14 pathways
| ID | Pathway |
|---|---|
| R-HSA-2132295 | MHC class II antigen presentation |
| R-HSA-5620924 | Intraflagellar transport |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-983189 | Kinesins |
| R-HSA-109582 | Hemostasis |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-1852241 | Organelle biogenesis and maintenance |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5617833 | Cilium Assembly |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| R-HSA-8856688 | Golgi-to-ER retrograde transport |
| R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
MSigDB gene sets: 194 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GSE45365_NK_CELL_VS_CD8A_DC_DN, RNGTGGGC_UNKNOWN, GNF2_RTN1, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_KINESIN_COMPLEX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, REACTOME_MEMBRANE_TRAFFICKING, GGGTGGRR_PAX4_03, AGTCTTA_MIR499, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, KOYAMA_SEMA3B_TARGETS_UP, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_DN, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GNF2_TM4SF2
GO Biological Process (1): microtubule-based movement (GO:0007018)
GO Molecular Function (7): cytoskeletal motor activity (GO:0003774), microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (7): cytoplasm (GO:0005737), cytosol (GO:0005829), kinesin complex (GO:0005871), microtubule (GO:0005874), cilium (GO:0005929), ciliary tip (GO:0097542), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-10 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Assembly of the 9+0 primary cilium | 1 |
| Golgi-to-ER retrograde transport | 1 |
| Factors involved in megakaryocyte development and platelet production | 1 |
| Immune System | 1 |
| Vesicle-mediated transport | 1 |
| Organelle biogenesis and maintenance | 1 |
| Membrane Trafficking | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Hemostasis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| ATP-dependent activity | 2 |
| microtubule-based process | 1 |
| molecular_function | 1 |
| cytoskeletal motor activity | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| tubulin binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| microtubule associated complex | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cilium | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1276 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIF3C | KIFAP3 | Q92845 | 980 |
| KIF3C | KIF3A | Q9Y496 | 907 |
| KIF3C | ASXL2 | Q76L83 | 774 |
| KIF3C | FMR1 | Q06787 | 711 |
| KIF3C | PLEKHA7 | Q6IQ23 | 703 |
| KIF3C | PDK2 | Q15119 | 638 |
| KIF3C | KLC1 | Q07866 | 611 |
| KIF3C | IFT52 | Q9Y366 | 572 |
| KIF3C | MATN3 | O15232 | 569 |
| KIF3C | DTNB | O60941 | 555 |
| KIF3C | IFT57 | Q9NWB7 | 552 |
| KIF3C | CAMSAP3 | Q9P1Y5 | 552 |
| KIF3C | FXR2 | P51116 | 545 |
| KIF3C | ASXL1 | Q8IXJ9 | 531 |
| KIF3C | FXR1 | P51114 | 522 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIF3A | KIF3C | psi-mi:“MI:0914”(association) | 0.730 |
| KIFAP3 | KIF3C | psi-mi:“MI:0914”(association) | 0.640 |
| KIF3C | MCC | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF3C | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIFBP | KIF3C | psi-mi:“MI:0914”(association) | 0.530 |
| PLEC | KIF3C | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIF3C | ZC3H3 | psi-mi:“MI:0914”(association) | 0.350 |
| CAMK2D | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF3A | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| NCKAP5 | KIF3C | psi-mi:“MI:0914”(association) | 0.350 |
| UL41 | KIF3C | psi-mi:“MI:0914”(association) | 0.350 |
| TTC8 | psi-mi:“MI:0914”(association) | 0.350 | |
| NFIB | psi-mi:“MI:0914”(association) | 0.350 | |
| RPS10-NUDT3 | psi-mi:“MI:0914”(association) | 0.350 | |
| CDH5 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| KIF3C | CDC5L | psi-mi:“MI:0915”(physical association) | 0.000 |
| KIF3C | DISC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| KIF3B | KIF3C | psi-mi:“MI:0915”(physical association) | 0.000 |
| AKAP12 | KIF3C | psi-mi:“MI:0915”(physical association) | 0.000 |
| STK4 | KIF3C | psi-mi:“MI:0915”(physical association) | 0.000 |
| DYRK2 | KIF3C | psi-mi:“MI:0915”(physical association) | 0.000 |
| SAV1 | KIF3C | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (32): KIF3A (Affinity Capture-MS), KIFAP3 (Affinity Capture-MS), ZC3H3 (Affinity Capture-MS), KIF3C (Affinity Capture-MS), KIF3C (Affinity Capture-MS), KIF3C (Affinity Capture-MS), KIF3C (Affinity Capture-MS), KIF3C (Affinity Capture-MS), KIF3C (Affinity Capture-MS), KIF3C (Affinity Capture-MS), KIF3C (Affinity Capture-MS), KIF3C (Affinity Capture-MS), KIF3C (Affinity Capture-RNA), KIF3C (Synthetic Lethality), KIF3C (Affinity Capture-MS)
ESM2 similar proteins: A0JN40, A8BB91, A8BKD1, B1AVY7, B9F2Y7, F1M4A4, F1M5N7, F1QN54, F4K0J3, G5EGS3, O14782, O15066, O35066, O55165, O60333, O75037, O88658, P28741, P33173, P33176, P34540, P35978, P46867, P46871, P46872, P46873, Q10E64, Q12756, Q29DY1, Q2PQA9, Q4R628, Q5JKW1, Q5R4H3, Q5R706, Q60575, Q61768, Q61771, Q6YUL8, Q7Z4S6, Q86Z98
Diamond homologs: A0A068FIK2, A0JN40, A1ZAJ2, A8BB91, A8BKD1, B1AVY7, B7EJ91, B7ZNG0, B9F2Y7, B9GE13, F1M4A4, F1M5N7, F1QN54, F4IIS5, F4J1U4, F4K0J3, G5EGS3, O14343, O14782, O15066, O23826, O35066, O35071, O35787, O43896, O45935, O55165, O60282, O60333, O75037, O88658, O95239, P17210, P21613, P23678, P28738, P28741, P33173, P33174, P33175
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| KIF3C | up-regulates | “Minus-end directed microtubule movement” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
114 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 98 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1617 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:25930059:TACTG:T | acceptor_gain | 1.0000 |
| 2:25930061:CTG:C | acceptor_gain | 1.0000 |
| 2:25930062:TG:T | acceptor_gain | 1.0000 |
| 2:25930064:C:CA | acceptor_loss | 1.0000 |
| 2:25930064:C:CC | acceptor_gain | 1.0000 |
| 2:25951782:GACT:G | donor_loss | 1.0000 |
| 2:25951784:CTCA:C | donor_loss | 1.0000 |
| 2:25951787:A:AC | donor_gain | 1.0000 |
| 2:25951787:A:T | donor_loss | 1.0000 |
| 2:25951787:ACACG:A | donor_gain | 1.0000 |
| 2:25951788:C:CA | donor_gain | 1.0000 |
| 2:25951788:CA:C | donor_gain | 1.0000 |
| 2:25951788:CACG:C | donor_gain | 1.0000 |
| 2:25951788:CACGC:C | donor_gain | 1.0000 |
| 2:25951817:T:TA | donor_gain | 1.0000 |
| 2:25951902:GTAC:G | acceptor_gain | 1.0000 |
| 2:25951903:TAC:T | acceptor_gain | 1.0000 |
| 2:25951903:TACC:T | acceptor_loss | 1.0000 |
| 2:25951904:AC:A | acceptor_gain | 1.0000 |
| 2:25951905:CC:C | acceptor_gain | 1.0000 |
| 2:25951905:CCTGG:C | acceptor_loss | 1.0000 |
| 2:25951906:C:CC | acceptor_gain | 1.0000 |
| 2:25951907:T:G | acceptor_loss | 1.0000 |
| 2:25951913:C:CT | acceptor_gain | 1.0000 |
| 2:25951914:A:T | acceptor_gain | 1.0000 |
| 2:25951918:A:C | acceptor_gain | 1.0000 |
| 2:25954265:A:AC | donor_gain | 1.0000 |
| 2:25954266:C:CC | donor_gain | 1.0000 |
| 2:25954386:C:CC | acceptor_gain | 1.0000 |
| 2:25955537:TCAC:T | donor_loss | 1.0000 |
AlphaMissense
5225 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:25951849:C:G | R649P | 1.000 |
| 2:25951884:G:C | F637L | 1.000 |
| 2:25951884:G:T | F637L | 1.000 |
| 2:25951886:A:G | F637L | 1.000 |
| 2:25951900:A:G | L632P | 1.000 |
| 2:25954276:A:G | L627P | 1.000 |
| 2:25929995:G:T | A692D | 0.999 |
| 2:25930003:G:C | S689R | 0.999 |
| 2:25930003:G:T | S689R | 0.999 |
| 2:25930005:T:G | S689R | 0.999 |
| 2:25930012:C:A | R686S | 0.999 |
| 2:25930012:C:G | R686S | 0.999 |
| 2:25930013:C:G | R686T | 0.999 |
| 2:25951820:A:G | W659R | 0.999 |
| 2:25951820:A:T | W659R | 0.999 |
| 2:25951882:A:T | I638N | 0.999 |
| 2:25951885:A:G | F637S | 0.999 |
| 2:25954270:A:G | L629P | 0.999 |
| 2:25954282:C:G | R625P | 0.999 |
| 2:25954318:C:G | R613P | 0.999 |
| 2:25954372:A:G | L595P | 0.999 |
| 2:25955548:A:G | L588P | 0.999 |
| 2:25980749:A:G | L390P | 0.999 |
| 2:25980842:G:T | A359D | 0.999 |
| 2:25980960:A:G | S320P | 0.999 |
| 2:25981028:A:G | L297S | 0.999 |
| 2:25981034:A:G | L295P | 0.999 |
| 2:25981040:A:G | I293T | 0.999 |
| 2:25981178:A:G | L247P | 0.999 |
| 2:25981193:A:G | L242P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000021171 (2:25984036 T>C), RS1000053052 (2:25952998 G>A), RS1000115549 (2:25961019 T>C), RS1000125946 (2:25952793 G>A,C), RS1000169939 (2:25975431 G>T), RS1000226752 (2:25936630 T>G), RS1000239536 (2:25952540 T>C), RS1000264721 (2:25982888 T>G), RS1000324553 (2:25943620 G>A,T), RS1000397914 (2:25943130 C>T), RS1000412979 (2:25965676 G>A), RS1000529616 (2:25960803 G>A,T), RS1000610918 (2:25967172 TCTG>T,TCTGCTG), RS1000618459 (2:25957584 T>C), RS1000683717 (2:25958824 C>T)
Disease associations
OMIM: gene MIM:602845 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006061_31 | Atrial fibrillation | 3.000000e-14 |
| GCST006061_69 | Atrial fibrillation | 6.000000e-12 |
| GCST006414_112 | Atrial fibrillation | 2.000000e-12 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1075196 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression, increases methylation | 5 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 4 |
| Smoke | decreases expression, increases abundance | 2 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| uranyl acetate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 10-(fluoroethoxyphosphinyl)-N-(biotinamidopentyl)decanamide | affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Calcitriol | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Tamoxifen | affects cotreatment, decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1101863 | Binding | Inhibition of human KIF3C at 1 uM | The discovery and optimization of hexahydro-2H-pyrano[3,2-c]quinolines (HHPQs) as potent and selective inhibitors of the mitotic kinesin-5. — Bioorg Med Chem Lett |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.