KIFC3

gene
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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

FieldValue
HGNC IDHGNC:6326
Approved symbolKIFC3
Namekinesin family member C3
Location16q21
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000140859
Ensembl biotypeprotein_coding
OMIM604535
Entrez3801

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

ExonStartEnd
ENSE000009453655777119857771437
ENSE000009453665777052757770700
ENSE000009453675776980857769955
ENSE000009453685776959557769725
ENSE000009453695776687457766985
ENSE000009453705776545957765640
ENSE000009453725776214057762270
ENSE000009453735776141357761536
ENSE000017493345775912557759153
ENSE000019286845780237057802491
ENSE000026100805777154357771686
ENSE000034603125776104257761171
ENSE000034722695775972857759836
ENSE000034832125775821757758909
ENSE000034901935776028257760416
ENSE000035774085776072657760955
ENSE000035864885779807257798282
ENSE000036132345777222357772288
ENSE000036436575776414357764247
ENSE000037857735779499957795141

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 IDTPM avgSamples expressed
1575598.56991499
1575480.6171337
1575600.2871109
1575560.2117121
1575570.151676
1575710.090530
1575580.070627
1575650.069428
1575520.063130
1575550.058341

Top tissues by expression

270 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
metanephros cortexUBERON:001053399.12gold quality
right lobe of thyroid glandUBERON:000111997.95gold quality
left lobe of thyroid glandUBERON:000112097.41gold quality
sural nerveUBERON:001548897.16gold quality
body of pancreasUBERON:000115097.13gold quality
right testisUBERON:000453496.60gold quality
left testisUBERON:000453396.45gold quality
skin of legUBERON:000151196.09gold quality
thyroid glandUBERON:000204696.09gold quality
apex of heartUBERON:000209896.00gold quality
right lobe of liverUBERON:000111495.55gold quality
upper lobe of left lungUBERON:000895295.25gold quality
skin of abdomenUBERON:000141695.17gold quality
lower esophagus mucosaUBERON:003583494.80gold quality
tibial nerveUBERON:000132394.26gold quality
upper lobe of lungUBERON:000894893.89gold quality
right lungUBERON:000216793.52gold quality
renal medullaUBERON:000036293.40gold quality
C1 segment of cervical spinal cordUBERON:000646993.12gold quality
pancreasUBERON:000126493.04gold quality
heart left ventricleUBERON:000208492.91gold quality
testisUBERON:000047392.88gold quality
cardiac ventricleUBERON:000208292.48gold quality
adenohypophysisUBERON:000219692.46gold quality
ascending aortaUBERON:000149692.36gold quality
stromal cell of endometriumCL:000225592.29gold quality
thoracic aortaUBERON:000151592.14gold quality
right atrium auricular regionUBERON:000663192.05gold quality
small intestine Peyer’s patchUBERON:000345491.95gold quality
cortical plateUBERON:000534391.58gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes8.80

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3121-3P99.8271.963630
HSA-MIR-2116-5P99.3269.341273
HSA-MIR-148A-5P99.3068.271141
HSA-MIR-4667-3P99.2665.451608
HSA-MIR-5584-3P99.2368.791351
HSA-MIR-6815-3P99.1368.981530
HSA-MIR-4755-3P98.7765.591915
HSA-MIR-2115-5P98.6668.071191
HSA-MIR-6868-3P98.6369.642259
HSA-MIR-1237-3P98.5567.651423
HSA-MIR-876-5P97.9968.491345
HSA-MIR-3085-5P97.7265.43544
HSA-MIR-770397.6467.00965
HSA-MIR-316796.8167.091236
HSA-MIR-3194-5P96.8064.901027
HSA-MIR-6734-5P95.7065.56950

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

OrganismSymbolGene ID
danio_reriokifc3ENSDARG00000054978
mus_musculusKifc3ENSMUSG00000031788
rattus_norvegicusKifc3ENSRNOG00000014087
caenorhabditis_elegansWBGENE00002216

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 KIFC3Q9BVG8 (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 IDNamesCanonical?
Q9BVG8-31yes
Q9BVG8-22
Q9BVG8-43
Q9BVG8-54
Q9BVG8-65

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)

IDNameType
IPR001752Kinesin_motor_domDomain
IPR019821Kinesin_motor_CSConserved_site
IPR027417P-loop_NTPaseHomologous_superfamily
IPR027640Kinesin-like_famFamily
IPR036961Kinesin_motor_dom_sfHomologous_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.

PDBMethodResolution (Å)
5WDEX-RAY DIFFRACTION1.85

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BVG8-F174.780.31

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

IDPathway
R-HSA-390471Association 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:

CategoryPathways
Chaperonin-mediated protein folding1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cytoplasm3
intracellular membrane-bounded organelle2
cellular anatomical structure2
cellular process1
microtubule-based process1
organelle organization1
endomembrane system organization1
sensory perception of light stimulus1
adherens junction maintenance1
cell-cell adhesion1
cytoskeletal motor activity1
polypeptide conformation or assembly isomerase activity1
ATP-dependent activity1
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
tubulin binding1
protein binding1
nucleoside phosphate binding1
heterocyclic compound binding1
molecular_function1
binding1
endomembrane system1
centriole1
microtubule organizing center1
microtubule associated complex1
microtubule cytoskeleton1
polymeric cytoskeletal fiber1
adherens junction1
apical junction complex1
cytoskeleton1
vesicle membrane1
cytoplasmic vesicle1
extracellular vesicle1
intracellular anatomical structure1
intracellular membraneless organelle1
cell-cell junction1
intracellular vesicle1
cell junction1

Protein interactions and networks

STRING

1911 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KIFC3CAMSAP3Q9P1Y5976
KIFC3PLEKHA7Q6IQ23955
KIFC3CEP170Q5SW79744
KIFC3CNGB1Q14028700
KIFC3FAM227BQ96M60515
KIFC3CYFIP2Q96F07494
KIFC3CTNNA1P35221493
KIFC3CNGA4Q8IV77470
KIFC3WDR62O43379456
KIFC3MCRS1Q96EZ8451
KIFC3NUFIP1Q9UHK0439
KIFC3DYNC1H1Q14204432
KIFC3CNGA2Q16280428
KIFC3FXR2P51116417
KIFC3NUFIP2Q7Z417416

IntAct

302 interactions, top by confidence:

ABTypeScore
KIFC3CEP170P1psi-mi:“MI:0915”(physical association)0.750
CEP170P1KIFC3psi-mi:“MI:0915”(physical association)0.750
KANSL1KIFC3psi-mi:“MI:0915”(physical association)0.670
RAD51DKIFC3psi-mi:“MI:0915”(physical association)0.670
PSMB1KIFC3psi-mi:“MI:0915”(physical association)0.670
KIFC3PRKAA2psi-mi:“MI:0915”(physical association)0.670
KIFC3ZGPATpsi-mi:“MI:0915”(physical association)0.670
KIFC3SMARCE1psi-mi:“MI:0915”(physical association)0.670
ABI2KIFC3psi-mi:“MI:0915”(physical association)0.670
KIFC3AIRIMpsi-mi:“MI:0915”(physical association)0.670
KIFC3RAD51Dpsi-mi:“MI:0915”(physical association)0.670
ZGPATKIFC3psi-mi:“MI:0915”(physical association)0.670
AIRIMKIFC3psi-mi:“MI:0915”(physical association)0.670
PRKAA2KIFC3psi-mi:“MI:0915”(physical association)0.670
KIFC3ZNF572psi-mi:“MI:0915”(physical association)0.560
NEFLKIFC3psi-mi:“MI:0915”(physical association)0.560
DCXKIFC3psi-mi:“MI:0915”(physical association)0.560
HSBP1KIFC3psi-mi:“MI:0915”(physical association)0.560
USP2KIFC3psi-mi:“MI:0915”(physical association)0.560
KIFC3FCHSD2psi-mi:“MI:0915”(physical association)0.560
SCELKIFC3psi-mi:“MI:0915”(physical association)0.560
MOSKIFC3psi-mi:“MI:0915”(physical association)0.560
KRT6AKIFC3psi-mi:“MI:0915”(physical association)0.560
KRT6BKIFC3psi-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:

PathwayPartnersFoldFDR
Formation of the cornified envelope813.8×4e-05
Keratinization88.7×6e-04

GO biological processes:

GO termPartnersFoldFDR
intermediate filament organization930.1×8e-09
morphogenesis of an epithelium628.7×2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

144 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance115
Likely benign1
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

4396 predictions. Top by Δscore:

VariantEffectΔscore
16:57755837:A:AGacceptor_gain1.0000
16:57755838:C:Gacceptor_gain1.0000
16:57755838:CA:Cacceptor_loss1.0000
16:57755839:A:AGacceptor_gain1.0000
16:57755839:AGAC:Aacceptor_gain1.0000
16:57755840:G:GCacceptor_gain1.0000
16:57755840:GAC:Gacceptor_gain1.0000
16:57755840:GACG:Gacceptor_gain1.0000
16:57755840:GACGT:Gacceptor_gain1.0000
16:57755913:AAAGC:Adonor_gain1.0000
16:57755914:AAGC:Adonor_gain1.0000
16:57755915:AGC:Adonor_gain1.0000
16:57755916:GC:Gdonor_gain1.0000
16:57755916:GCG:Gdonor_gain1.0000
16:57755917:CG:Cdonor_loss1.0000
16:57755918:G:GGdonor_gain1.0000
16:57755990:A:AGacceptor_gain1.0000
16:57755991:G:GGacceptor_gain1.0000
16:57756307:T:Aacceptor_gain1.0000
16:57756313:T:TAacceptor_gain1.0000
16:57756320:T:TAacceptor_gain1.0000
16:57756353:A:Gacceptor_gain1.0000
16:57756354:A:AGacceptor_gain1.0000
16:57756355:G:GAacceptor_gain1.0000
16:57756355:GCTAC:Gacceptor_gain1.0000
16:57756464:G:GTdonor_gain1.0000
16:57756469:AGAG:Adonor_loss1.0000
16:57756472:GG:Gdonor_loss1.0000
16:57756473:GTGA:Gdonor_loss1.0000
16:57756474:T:Adonor_loss1.0000

AlphaMissense

5327 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:57760934:A:GL675S1.000
16:57764177:C:TG528D1.000
16:57760364:G:TA762D0.999
16:57760366:A:CF761L0.999
16:57760366:A:TF761L0.999
16:57760368:A:GF761L0.999
16:57760373:A:GL759P0.999
16:57760856:A:GL701P0.999
16:57760856:A:TL701Q0.999
16:57760864:G:CN698K0.999
16:57760864:G:TN698K0.999
16:57760868:A:TI697N0.999
16:57760878:C:GA694P0.999
16:57760928:C:TG677D0.999
16:57760929:C:AG677C0.999
16:57760929:C:GG677R0.999
16:57760931:G:TA676D0.999
16:57760934:A:CL675W0.999
16:57760936:G:CD674E0.999
16:57760936:G:TD674E0.999
16:57760937:T:AD674V0.999
16:57760937:T:CD674G0.999
16:57760937:T:GD674A0.999
16:57760943:A:GL672P0.999
16:57760949:A:GL670P0.999
16:57761100:G:CH648Q0.999
16:57761100:G:TH648Q0.999
16:57761112:G:CS644R0.999
16:57761112:G:TS644R0.999
16:57761114:T:GS644R0.999

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.

ChemicalActions (top 5)PubMed papers
sodium arseniteincreases abundance, increases expression, affects cotreatment, decreases expression3
Arsenicaffects methylation, affects cotreatment, decreases expression, increases abundance2
Benzo(a)pyreneaffects methylation, increases methylation2
Estradiolincreases expression, decreases expression, affects cotreatment2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Particulate Matteraffects methylation, increases abundance, increases expression2
GSK-J4increases expression1
triphenyl phosphateaffects expression1
titanium dioxidedecreases methylation1
ethyl-p-hydroxybenzoateincreases expression1
methylparabenincreases expression1
aflatoxin B2decreases methylation1
di-n-butylphosphoric acidaffects expression1
CGP 52608increases reaction, affects binding1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
clothianidinincreases expression1
abrineincreases expression1
dorsomorphinaffects cotreatment, increases expression1
Docetaxeldecreases response to substance1
Sunitinibdecreases expression1
Air Pollutantsaffects methylation, increases abundance1
Vehicle Emissionsincreases abundance, increases expression1
Cadmiumdecreases expression1
Caffeinedecreases phosphorylation1
Cisplatindecreases expression1
Thiramincreases expression1
Tobacco Smoke Pollutiondecreases expression1
Triclosanincreases expression1
Vanadatesincreases expression1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1101864BindingInhibition of human KIFC3 at 1 uMThe 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):

CellosaurusNameCategorySex
CVCL_1084BFTC-909Cancer cell lineMale
CVCL_2909G-292 clone A141B1Cancer cell lineFemale
CVCL_B1V9Abcam HeLa KIFC3 KOCancer cell lineFemale
CVCL_YB38BFTC-909 pBabeAR1Cancer cell lineMale
CVCL_YB39BFTC-909 pBabeAR2Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.