KIFC3
gene geneOn this page
Summary
KIFC3 (kinesin family member C3, HGNC:6326) is a protein-coding gene on chromosome 16q21, encoding Kinesin-like protein KIFC3 (Q9BVG8). Minus-end microtubule-dependent motor protein.
This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 3801 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 144 total
- Druggable target: yes
- MANE Select transcript:
NM_001130100
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6326 |
| Approved symbol | KIFC3 |
| Name | kinesin family member C3 |
| Location | 16q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000140859 |
| Ensembl biotype | protein_coding |
| OMIM | 604535 |
| Entrez | 3801 |
Gene structure
Transcript identifiers
Ensembl transcripts: 51 — 39 protein_coding, 6 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay, 1 TEC
ENST00000379655, ENST00000421376, ENST00000445690, ENST00000465878, ENST00000540079, ENST00000541240, ENST00000543930, ENST00000561524, ENST00000562311, ENST00000562503, ENST00000562903, ENST00000562984, ENST00000563028, ENST00000563266, ENST00000563295, ENST00000564136, ENST00000564204, ENST00000564891, ENST00000565270, ENST00000565351, ENST00000565397, ENST00000565481, ENST00000565684, ENST00000565753, ENST00000565871, ENST00000566648, ENST00000566914, ENST00000566975, ENST00000567059, ENST00000567204, ENST00000567479, ENST00000569112, ENST00000569222, ENST00000569619, ENST00000623271, ENST00000874177, ENST00000874178, ENST00000874179, ENST00000874180, ENST00000874181, ENST00000874182, ENST00000874183, ENST00000874184, ENST00000950445, ENST00000950446, ENST00000950447, ENST00000950448, ENST00000950449, ENST00000950450, ENST00000950451, ENST00000950452
RefSeq mRNA: 9 — MANE Select: NM_001130100
NM_001130099, NM_001130100, NM_001318710, NM_001318711, NM_001318712, NM_001318713, NM_001318714, NM_001318715, NM_005550
CCDS: CCDS10789, CCDS45493, CCDS45494, CCDS81987, CCDS81988, CCDS81989
Canonical transcript exons
ENST00000445690 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000945365 | 57771198 | 57771437 |
| ENSE00000945366 | 57770527 | 57770700 |
| ENSE00000945367 | 57769808 | 57769955 |
| ENSE00000945368 | 57769595 | 57769725 |
| ENSE00000945369 | 57766874 | 57766985 |
| ENSE00000945370 | 57765459 | 57765640 |
| ENSE00000945372 | 57762140 | 57762270 |
| ENSE00000945373 | 57761413 | 57761536 |
| ENSE00001749334 | 57759125 | 57759153 |
| ENSE00001928684 | 57802370 | 57802491 |
| ENSE00002610080 | 57771543 | 57771686 |
| ENSE00003460312 | 57761042 | 57761171 |
| ENSE00003472269 | 57759728 | 57759836 |
| ENSE00003483212 | 57758217 | 57758909 |
| ENSE00003490193 | 57760282 | 57760416 |
| ENSE00003577408 | 57760726 | 57760955 |
| ENSE00003586488 | 57798072 | 57798282 |
| ENSE00003613234 | 57772223 | 57772288 |
| ENSE00003643657 | 57764143 | 57764247 |
| ENSE00003785773 | 57794999 | 57795141 |
Expression profiles
Bgee: expression breadth ubiquitous, 212 present calls, max score 99.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4856 / max 103.4244, expressed in 1651 samples.
FANTOM5 promoters (21 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157559 | 8.5699 | 1499 |
| 157548 | 0.6171 | 337 |
| 157560 | 0.2871 | 109 |
| 157556 | 0.2117 | 121 |
| 157557 | 0.1516 | 76 |
| 157571 | 0.0905 | 30 |
| 157558 | 0.0706 | 27 |
| 157565 | 0.0694 | 28 |
| 157552 | 0.0631 | 30 |
| 157555 | 0.0583 | 41 |
Top tissues by expression
270 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| metanephros cortex | UBERON:0010533 | 99.12 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.95 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.41 | gold quality |
| sural nerve | UBERON:0015488 | 97.16 | gold quality |
| body of pancreas | UBERON:0001150 | 97.13 | gold quality |
| right testis | UBERON:0004534 | 96.60 | gold quality |
| left testis | UBERON:0004533 | 96.45 | gold quality |
| skin of leg | UBERON:0001511 | 96.09 | gold quality |
| thyroid gland | UBERON:0002046 | 96.09 | gold quality |
| apex of heart | UBERON:0002098 | 96.00 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.55 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.25 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.17 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.80 | gold quality |
| tibial nerve | UBERON:0001323 | 94.26 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.89 | gold quality |
| right lung | UBERON:0002167 | 93.52 | gold quality |
| renal medulla | UBERON:0000362 | 93.40 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.12 | gold quality |
| pancreas | UBERON:0001264 | 93.04 | gold quality |
| heart left ventricle | UBERON:0002084 | 92.91 | gold quality |
| testis | UBERON:0000473 | 92.88 | gold quality |
| cardiac ventricle | UBERON:0002082 | 92.48 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.46 | gold quality |
| ascending aorta | UBERON:0001496 | 92.36 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.29 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.14 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.05 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.95 | gold quality |
| cortical plate | UBERON:0005343 | 91.58 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
16 targeting KIFC3, 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-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-2116-5P | 99.32 | 69.34 | 1273 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-2115-5P | 98.66 | 68.07 | 1191 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-1237-3P | 98.55 | 67.65 | 1423 |
| HSA-MIR-876-5P | 97.99 | 68.49 | 1345 |
| HSA-MIR-3085-5P | 97.72 | 65.43 | 544 |
| HSA-MIR-7703 | 97.64 | 67.00 | 965 |
| HSA-MIR-3167 | 96.81 | 67.09 | 1236 |
| HSA-MIR-3194-5P | 96.80 | 64.90 | 1027 |
| HSA-MIR-6734-5P | 95.70 | 65.56 | 950 |
Literature-anchored findings (GeneRIF, showing 8)
- High expression of KIFC3 is associated with docetaxel resistance in breast cancer. (PMID:19789344)
- KifC3 may play a regulatory role in minus-end directed peroxisomal transport for example by blocking the motor function of dynein at peroxisomes. (PMID:23954441)
- KIFC3 may guide free microtubules to their destination at the bridge and/or may slide and crosslink central bridge microtubules in order to stage the cells for abscission. (PMID:24275865)
- Data indicate that E-cadherin ubiquitination consistently increases after depletion of kinesin-like protein KIFC3 or ubiquitin-specific protease USP47. (PMID:25253721)
- Study found that in peripheral blood mononuclear cells the median expression of KIFC3, KIF1B, and KIF5C was much lower than the expression of dynactin subunits DCTN1 and DCTN3, in both sporadic amyotrophic lateral sclerosis and healthy cases (PMID:26954557)
- KIFC3 activity becomes the main driving force of centrosome cohesion to prevent premature spindle formation after linker dissolution as it counteracts the increasing EG5-driven pushing forces (PMID:31481795)
- Microtubule Minus-End Binding Protein CAMSAP2 and Kinesin-14 Motor KIFC3 Control Dendritic Microtubule Organization. (PMID:32084403)
- KIFC3 Regulates the progression and metastasis of gastric cancer via Notch1 pathway. (PMID:36890049)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kifc3 | ENSDARG00000054978 |
| mus_musculus | Kifc3 | ENSMUSG00000031788 |
| rattus_norvegicus | Kifc3 | ENSRNOG00000014087 |
| caenorhabditis_elegans | WBGENE00002216 |
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), 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 KIFC3 — Q9BVG8 (reviewed: Q9BVG8)
All UniProt accessions (18): Q9BVG8, A0A0C4DGM9, B7Z896, F5H3M2, H3BMJ1, H3BMQ3, H3BMR0, H3BMZ5, H3BNZ0, H3BPE2, H3BRQ1, H3BSN2, H3BTE9, H3BTL6, H3BTN1, H3BTU1, H3BUC0, H3BV47
UniProt curated annotations — full annotation on UniProt →
Function. Minus-end microtubule-dependent motor protein. Involved in apically targeted transport. Required for zonula adherens maintenance.
Subcellular location. Cell junction. Adherens junction. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cytoplasmic vesicle membrane.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BVG8-3 | 1 | yes |
| Q9BVG8-2 | 2 | |
| Q9BVG8-4 | 3 | |
| Q9BVG8-5 | 4 | |
| Q9BVG8-6 | 5 |
RefSeq proteins (9): NP_001123571, NP_001123572, NP_001305639, NP_001305640, NP_001305641, NP_001305642, NP_001305643, NP_001305644, NP_005541 (=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 (49 total): helix 14, strand 12, splice variant 5, sequence conflict 4, modified residue 2, region of interest 2, turn 2, coiled-coil region 2, compositionally biased region 2, chain 1, domain 1, sequence variant 1, binding site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5WDE | X-RAY DIFFRACTION | 1.85 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BVG8-F1 | 74.78 | 0.31 |
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): 528–535
Post-translational modifications (2): 817, 813
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-390471 | Association of TriC/CCT with target proteins during biosynthesis |
MSigDB gene sets: 186 (showing top):
MORF_RAGE, GOCC_KINESIN_COMPLEX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_CELLULAR_COMPONENT_MAINTENANCE, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CELL_CELL_ADHESION, GOBP_EPITHELIAL_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, MORF_FANCG, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOCC_CENTROSOME, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION
GO Biological Process (6): microtubule-based process (GO:0007017), microtubule-based movement (GO:0007018), Golgi organization (GO:0007030), visual perception (GO:0007601), zonula adherens maintenance (GO:0045218), epithelial cell-cell adhesion (GO:0090136)
GO Molecular Function (7): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), identical protein binding (GO:0042802), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), protein binding (GO:0005515)
GO Cellular Component (15): mitochondrion (GO:0005739), Golgi apparatus (GO:0005794), centrosome (GO:0005813), kinesin complex (GO:0005871), microtubule (GO:0005874), zonula adherens (GO:0005915), microtubule cytoskeleton (GO:0015630), cytoplasmic vesicle membrane (GO:0030659), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), adherens junction (GO:0005912), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Chaperonin-mediated protein folding | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| cellular process | 1 |
| microtubule-based process | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| sensory perception of light stimulus | 1 |
| adherens junction maintenance | 1 |
| cell-cell adhesion | 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 |
| molecular_function | 1 |
| binding | 1 |
| endomembrane system | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| microtubule associated complex | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| adherens junction | 1 |
| apical junction complex | 1 |
| cytoskeleton | 1 |
| vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| cell-cell junction | 1 |
| intracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1911 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIFC3 | CAMSAP3 | Q9P1Y5 | 976 |
| KIFC3 | PLEKHA7 | Q6IQ23 | 955 |
| KIFC3 | CEP170 | Q5SW79 | 744 |
| KIFC3 | CNGB1 | Q14028 | 700 |
| KIFC3 | FAM227B | Q96M60 | 515 |
| KIFC3 | CYFIP2 | Q96F07 | 494 |
| KIFC3 | CTNNA1 | P35221 | 493 |
| KIFC3 | CNGA4 | Q8IV77 | 470 |
| KIFC3 | WDR62 | O43379 | 456 |
| KIFC3 | MCRS1 | Q96EZ8 | 451 |
| KIFC3 | NUFIP1 | Q9UHK0 | 439 |
| KIFC3 | DYNC1H1 | Q14204 | 432 |
| KIFC3 | CNGA2 | Q16280 | 428 |
| KIFC3 | FXR2 | P51116 | 417 |
| KIFC3 | NUFIP2 | Q7Z417 | 416 |
IntAct
302 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIFC3 | CEP170P1 | psi-mi:“MI:0915”(physical association) | 0.750 |
| CEP170P1 | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.750 |
| KANSL1 | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RAD51D | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PSMB1 | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KIFC3 | PRKAA2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KIFC3 | ZGPAT | psi-mi:“MI:0915”(physical association) | 0.670 |
| KIFC3 | SMARCE1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ABI2 | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KIFC3 | AIRIM | psi-mi:“MI:0915”(physical association) | 0.670 |
| KIFC3 | RAD51D | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZGPAT | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| AIRIM | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PRKAA2 | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KIFC3 | ZNF572 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEFL | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DCX | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSBP1 | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USP2 | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIFC3 | FCHSD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCEL | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MOS | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT6A | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT6B | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (324): USP47 (Affinity Capture-Western), USP47 (Affinity Capture-MS), KIFC3 (Two-hybrid), KIFC3 (Two-hybrid), KIFC3 (Two-hybrid), KIFC3 (Two-hybrid), KIFC3 (Two-hybrid), KIFC3 (Two-hybrid), KIFC3 (Two-hybrid), KIFC3 (Two-hybrid), KIFC3 (Two-hybrid), KIFC3 (Two-hybrid), KIFC3 (Two-hybrid), KRT5 (Two-hybrid), KRT6A (Two-hybrid)
ESM2 similar proteins: A0A8I3NFE2, A2AP18, A6QP29, A6QPL4, A8WFU8, B1AVH7, B5DFA1, D2H0G5, D7PF45, O15357, O43304, O75038, O75808, Q0GNC1, Q0QWG9, Q14807, Q27J81, Q3V300, Q4R918, Q5I0E8, Q5REP4, Q5VV41, Q5XI63, Q60443, Q60806, Q61152, Q61846, Q69ZT1, Q6DT37, Q6L512, Q6P3R1, Q6P549, Q6ZMV9, Q7ZYL5, Q80UW5, Q8BL80, Q8C7W7, Q99952, Q9BVG8, Q9BW19
Diamond homologs: A2ZRG4, A3BFT0, A8BB91, A8BKD1, B2GU58, B3H6Z8, B7EJ91, B9EUM5, B9F7C8, B9FAF3, B9FL70, B9FTR1, B9G2X9, B9G8P1, F1QN54, F4HZF0, F4I1T9, F4IAR2, F4IBQ9, F4IIS5, F4IJK6, F4IL57, F4J2M6, F4JGP4, F4JX00, F4K4C5, O08672, O15066, O23826, O35231, O43093, O81635, O95239, P17119, P20480, P23678, P28025, P28739, P28741, P33174
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 81 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of the cornified envelope | 8 | 13.8× | 4e-05 |
| Keratinization | 8 | 8.7× | 6e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intermediate filament organization | 9 | 30.1× | 8e-09 |
| morphogenesis of an epithelium | 6 | 28.7× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
144 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 115 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4396 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:57755837:A:AG | acceptor_gain | 1.0000 |
| 16:57755838:C:G | acceptor_gain | 1.0000 |
| 16:57755838:CA:C | acceptor_loss | 1.0000 |
| 16:57755839:A:AG | acceptor_gain | 1.0000 |
| 16:57755839:AGAC:A | acceptor_gain | 1.0000 |
| 16:57755840:G:GC | acceptor_gain | 1.0000 |
| 16:57755840:GAC:G | acceptor_gain | 1.0000 |
| 16:57755840:GACG:G | acceptor_gain | 1.0000 |
| 16:57755840:GACGT:G | acceptor_gain | 1.0000 |
| 16:57755913:AAAGC:A | donor_gain | 1.0000 |
| 16:57755914:AAGC:A | donor_gain | 1.0000 |
| 16:57755915:AGC:A | donor_gain | 1.0000 |
| 16:57755916:GC:G | donor_gain | 1.0000 |
| 16:57755916:GCG:G | donor_gain | 1.0000 |
| 16:57755917:CG:C | donor_loss | 1.0000 |
| 16:57755918:G:GG | donor_gain | 1.0000 |
| 16:57755990:A:AG | acceptor_gain | 1.0000 |
| 16:57755991:G:GG | acceptor_gain | 1.0000 |
| 16:57756307:T:A | acceptor_gain | 1.0000 |
| 16:57756313:T:TA | acceptor_gain | 1.0000 |
| 16:57756320:T:TA | acceptor_gain | 1.0000 |
| 16:57756353:A:G | acceptor_gain | 1.0000 |
| 16:57756354:A:AG | acceptor_gain | 1.0000 |
| 16:57756355:G:GA | acceptor_gain | 1.0000 |
| 16:57756355:GCTAC:G | acceptor_gain | 1.0000 |
| 16:57756464:G:GT | donor_gain | 1.0000 |
| 16:57756469:AGAG:A | donor_loss | 1.0000 |
| 16:57756472:GG:G | donor_loss | 1.0000 |
| 16:57756473:GTGA:G | donor_loss | 1.0000 |
| 16:57756474:T:A | donor_loss | 1.0000 |
AlphaMissense
5327 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:57760934:A:G | L675S | 1.000 |
| 16:57764177:C:T | G528D | 1.000 |
| 16:57760364:G:T | A762D | 0.999 |
| 16:57760366:A:C | F761L | 0.999 |
| 16:57760366:A:T | F761L | 0.999 |
| 16:57760368:A:G | F761L | 0.999 |
| 16:57760373:A:G | L759P | 0.999 |
| 16:57760856:A:G | L701P | 0.999 |
| 16:57760856:A:T | L701Q | 0.999 |
| 16:57760864:G:C | N698K | 0.999 |
| 16:57760864:G:T | N698K | 0.999 |
| 16:57760868:A:T | I697N | 0.999 |
| 16:57760878:C:G | A694P | 0.999 |
| 16:57760928:C:T | G677D | 0.999 |
| 16:57760929:C:A | G677C | 0.999 |
| 16:57760929:C:G | G677R | 0.999 |
| 16:57760931:G:T | A676D | 0.999 |
| 16:57760934:A:C | L675W | 0.999 |
| 16:57760936:G:C | D674E | 0.999 |
| 16:57760936:G:T | D674E | 0.999 |
| 16:57760937:T:A | D674V | 0.999 |
| 16:57760937:T:C | D674G | 0.999 |
| 16:57760937:T:G | D674A | 0.999 |
| 16:57760943:A:G | L672P | 0.999 |
| 16:57760949:A:G | L670P | 0.999 |
| 16:57761100:G:C | H648Q | 0.999 |
| 16:57761100:G:T | H648Q | 0.999 |
| 16:57761112:G:C | S644R | 0.999 |
| 16:57761112:G:T | S644R | 0.999 |
| 16:57761114:T:G | S644R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000060520 (16:57815296 C>A,G,T), RS1000083313 (16:57795635 C>G,T), RS1000128749 (16:57861340 T>C), RS1000159371 (16:57787440 C>T), RS1000178218 (16:57842401 A>C,G), RS1000293674 (16:57827504 C>G,T), RS1000302266 (16:57770398 G>A,T), RS1000316425 (16:57787235 C>T), RS1000353874 (16:57833532 G>A), RS1000415462 (16:57861588 C>T), RS1000457339 (16:57792483 C>T), RS1000552165 (16:57845536 A>G), RS1000557846 (16:57839311 G>A), RS1000587071 (16:57827702 C>T), RS1000599581 (16:57798342 G>A,C,T)
Disease associations
OMIM: gene MIM:604535 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1075119 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, affects cotreatment, decreases expression | 3 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Estradiol | increases expression, decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Particulate Matter | affects methylation, increases abundance, increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| titanium dioxide | decreases methylation | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| methylparaben | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| clothianidin | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Docetaxel | decreases response to substance | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | affects methylation, increases abundance | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Cadmium | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Vanadates | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1101864 | Binding | Inhibition of human KIFC3 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 |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_1084 | BFTC-909 | Cancer cell line | Male |
| CVCL_2909 | G-292 clone A141B1 | Cancer cell line | Female |
| CVCL_B1V9 | Abcam HeLa KIFC3 KO | Cancer cell line | Female |
| CVCL_YB38 | BFTC-909 pBabeAR1 | Cancer cell line | Male |
| CVCL_YB39 | BFTC-909 pBabeAR2 | Cancer cell line | Male |
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.