KIF6

Summary

KIF6 (kinesin family member 6, HGNC:21202) is a protein-coding gene on chromosome 6p21.2, encoding Kinesin-like protein KIF6 (Q6ZMV9).

This gene encodes a member of a family of molecular motors which are involved in intracellular transport of protein complexes, membrane organelles, and messenger ribonucleic acid along microtubules. Kinesins function as homodimeric molecules with two N-terminal head domains that move along microtubules and two C-terminal tail domains that interact with the transported cargo, either directly or indirectly, through adapter molecules. This gene is ubiquitously expressed in coronary arteries and other vascular tissue. A naturally occurring mutation in this gene is associated with coronary heart disease.

Source: NCBI Gene 221458 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 138 total
• Druggable target: yes
• MANE Select transcript: NM_145027

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21202
Approved symbol	KIF6
Name	kinesin family member 6
Location	6p21.2
Locus type	gene with protein product
Status	Approved
Aliases	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418
Ensembl gene	ENSG00000164627
Ensembl biotype	protein_coding
OMIM	613919
Entrez	221458

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000229913, ENST00000287152, ENST00000394362, ENST00000441975, ENST00000458470, ENST00000465719, ENST00000482238, ENST00000538893

RefSeq mRNA: 5 — MANE Select: NM_145027 NM_001289020, NM_001289021, NM_001289024, NM_001351566, NM_145027

CCDS: CCDS4844, CCDS75449

Canonical transcript exons

ENST00000287152 — 23 exons

Exon	Start	End
ENSE00001086070	39357277	39357374
ENSE00001086071	39362434	39362518
ENSE00001086072	39360395	39360530
ENSE00001122395	39345700	39345789
ENSE00001122428	39385622	39385672
ENSE00001122435	39419948	39420003
ENSE00001375864	39343709	39343815
ENSE00001623788	39329990	39336548
ENSE00001901553	39346476	39346526
ENSE00002431827	39431053	39431161
ENSE00002450312	39544555	39544693
ENSE00002474610	39540003	39540221
ENSE00003513774	39725245	39725408
ENSE00003579485	39720702	39720811
ENSE00003646297	39714692	39714766
ENSE00003715397	39584898	39584984
ENSE00003719013	39634849	39634958
ENSE00003736329	39613189	39613318
ENSE00003743156	39596054	39596260
ENSE00003743437	39586261	39586404
ENSE00003749485	39639610	39639757
ENSE00003752724	39545583	39545688
ENSE00003753482	39578056	39578159

Expression profiles

Bgee: expression breadth ubiquitous, 190 present calls, max score 85.50.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8917 / max 64.7895, expressed in 597 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73492	1.0863	421
73486	0.2713	138
73490	0.2641	67
73487	0.1930	101
73491	0.0572	27
73489	0.0199	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	85.50	gold quality
corpus callosum	UBERON:0002336	83.08	gold quality
sperm	CL:0000019	81.71	silver quality
bronchial epithelial cell	CL:0002328	80.97	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	80.20	gold quality
bronchus	UBERON:0002185	80.10	gold quality
oocyte	CL:0000023	80.07	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	79.22	gold quality
spinal cord	UBERON:0002240	78.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.08	gold quality
substantia nigra	UBERON:0002038	77.23	gold quality
medial globus pallidus	UBERON:0002477	77.22	gold quality
secondary oocyte	CL:0000655	76.99	gold quality
globus pallidus	UBERON:0001875	76.34	gold quality
midbrain	UBERON:0001891	76.00	gold quality
hypothalamus	UBERON:0001898	75.40	gold quality
caudate nucleus	UBERON:0001873	72.40	gold quality
putamen	UBERON:0001874	72.29	gold quality
amygdala	UBERON:0001876	72.06	gold quality
Ammon’s horn	UBERON:0001954	72.01	gold quality
nasal cavity epithelium	UBERON:0005384	71.08	gold quality
nucleus accumbens	UBERON:0001882	70.77	gold quality
subthalamic nucleus	UBERON:0001906	70.77	silver quality
lateral globus pallidus	UBERON:0002476	70.42	gold quality
kidney epithelium	UBERON:0004819	69.79	gold quality
calcaneal tendon	UBERON:0003701	69.03	gold quality
inferior vagus X ganglion	UBERON:0005363	68.93	gold quality
pancreatic ductal cell	CL:0002079	68.85	silver quality
temporal lobe	UBERON:0001871	68.77	gold quality
mucosa of paranasal sinus	UBERON:0005030	68.52	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.77
E-ENAD-27	no	4.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting KIF6, 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-3163	100.00	77.23	8605
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-21-5P	99.46	70.54	1035
HSA-MIR-3911	99.38	66.95	1087
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-324-3P	99.26	66.31	1034
HSA-MIR-590-5P	99.25	70.76	930
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-224-3P	98.91	68.42	1815
HSA-MIR-522-3P	98.91	68.56	1817
HSA-MIR-6776-5P	98.54	67.43	1304
HSA-MIR-5008-5P	98.42	65.87	1019

Literature-anchored findings (GeneRIF, showing 32)

• In both the CARE and the WOSCOPS trials, carriers of the KIF6 719Arg allele had an increased risk of coronary events, and pravastatin treatment substantially reduced that risk. (PMID:18222353)
• Confirming and extending previous reports, carriers of the 719Arg allele of KIF6 have 34% higher risk of myocardial infarction and 24% higher risk of CHD compared with noncarriers among 25,283 women from the WHS. (PMID:18222354)
• Carriers of 719Arg receive significantly greater benefit from intensive statin therapy than do noncarriers, a superior benefit that appears to be due to a mechanism distinct from lipid or CRP lowering. (PMID:18222355)
• The KIF6 719Arg variant has been associated with an increased risk of coronary disease and an increased response to statin therapy. (PMID:18510970)
• a relationship between the presence of endothelial colony-forming cells and Arg/Arg genotype in KIF6 in patients with acute myocardial infarction. (PMID:20044086)
• Elderly carriers of the KIF6 719Arg variant with prior vascular disease received significant benefit from pravastatin therapy. (PMID:20215968)
• pravastatin therapy significantly and substantially reduced primary end point events in carriers of the KIF6 719Arg allele but not in noncarriers. (PMID:20403483)
• the role of polymorphic marker Thr719Arg of kinesin 6 gene in development of ischemic heart disease, myocardial infarction, and in efficacy of therapy with statins (Review) (PMID:20659029)
• review of data supporting association between KIF6 polymorphism and coronary heart disease (CHD) and association between KIF6 polymorphism and event reduction by statin therapy; discuss putative biologic role of this kinesin in the cause of CHD [review] (PMID:20854963)
• three highly linked SNPs in the KIF6 region were identified that predict differential reduction of coronary events from statin therapy. (PMID:20886236)
• Carriers of the KIF6 719Arg allele were not at increased risk of non-fatal myocardial infarction. (PMID:20927332)
• Kinesin-like protein-6 tryptophan719arginine polymorphism is not associated with risk of clinical coronary artery disease in this large replication study. (PMID:20933357)
• A combination of KIF6 719Arg carrier status and C-reactive protein levels modestly improves the prediction of risk of myocardial infarction among white men. (PMID:21406102)
• Use of KIF6 genotyping to guide statin therapy is not warranted in this heart protection trial, since no impact is found on KIF6 genotype, vascular risk or statin response. (PMID:21458191)
• Carriers of the KIF6 719Arg allele were not at increased risk of CAD/non-fatal MI in a case-control study of Indians (Indo-Europeans) living in Western India. (PMID:21810021)
• In patients with type 2 diabetes mellitus on hemodialysis, KIF6 Trp719Arg genotypes were not associated with adverse cardiovascular outcomes during follow-up or with the efficacy of atorvastatin therapy. (PMID:21871624)
• Discovered influence of polymorphic marker Trp719Arg of KIF6 gene on individual response to therapy with 10 mg/day of atorvastatin. (PMID:21943003)
• Assessment of KIF6 genotype is not useful in predicting low density lipoprotein cholesterol lowering response to pravastatin, and heart disease risk reduction in the elderly. (PMID:22192511)
• In a meta-analysis involving 144,931 participants, the KIF6 719Arg allele was not associated with the relative risk of cardiovascular disease (PMID:22216121)
• These data suggest that decreased availability of functional KLF6 contributes to clinical prostate cancer progression. (PMID:22819534)
• KIF6 719Arg allele was not an independent risk factor for angiographic coronary artery disease(CAD)susceptibility in northern China Han populations; it was associated with a significantly higher TG level, which may indicate increased myocardial infarction risk in angiographic CAD patients (PMID:23001387)
• Our case-control study suggests that Trp719Arg of KIF6 gene is associated with coronary heart disease in female Han Chinese through a post hoc analysis. (PMID:23236363)
• KIF6 719Arg allele may increase the risk of T2DM and T2DM + CHD only in Han Chinese men by modulating lipid metabolism. (PMID:25629058)
• KIF6 polymorphism rs20455 had a significant association with Coronary Heart Disease; statin therapy was more effective in rs20455 carriers than non-carriers (PMID:26443250)
• The absence of Trp719Arg polymorphism association with coronary artery disease (CAD) and CAD in stratified myocardial infarction cases indicates that the polymorphism is not associated with an increased risk among CAD patients from the Eastern Province of Saudi Arabia (PMID:26997531)
• The Trp719Arg polymorphism of the KIF6 gene is an important risk factor for developing myocardial infarction and that allele 719Arg may have a protective association to present coronary heart disease in all populations [review; meta-analysis] (PMID:28096762)
• his represents the first study implicating KIF6 variants with obesity in men, and point to the possible involvement of this genetic locus in the known gender-related differences in coronary artery disease. (PMID:29295555)
• The result suggests that KIF6 rs20455 polymorphism may not be associated with coronary heart disease susceptibility. (Meta-analysis) (PMID:29304815)
• Are KIF6 and APOE polymorphisms associated with power and endurance athletes? (PMID:32867607)
• Impact of 719Trp>Arg Polymorphism of KIF 6 Gene on Contrast Induced Nephropathy in Patients Undergoing Coronary Angiography or Percutaneous Coronary Intervention. (PMID:35342690)
• KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic Dissection. (PMID:36833179)
• Motor protein Kif6 regulates cilia motility and polarity in brain ependymal cells. (PMID:38235522)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kif6	ENSDARG00000053240
mus_musculus	Kif6	ENSMUSG00000023999
rattus_norvegicus	Kif6	ENSRNOG00000011453

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), 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 KIF6 — Q6ZMV9 (reviewed: Q6ZMV9)

All UniProt accessions (5): Q6ZMV9, F6VGH2, H0Y718, Q2MDE8, Q5JRK0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cytoskeleton.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6ZMV9-1	1	yes
Q6ZMV9-2	2
Q6ZMV9-3	3
Q6ZMV9-4	4

RefSeq proteins (5): NP_001275949, NP_001275950, NP_001275953, NP_001338495, NP_659464* (*=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
IPR056524	KIF6/9_C	Domain

Pfam: PF00225, PF23735

UniProt features (19 total): splice variant 4, sequence conflict 4, sequence variant 3, coiled-coil region 3, chain 1, domain 1, region of interest 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZMV9-F1	71.56	0.20

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

8 pathways

ID	Pathway
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189	Kinesins
R-HSA-109582	Hemostasis
R-HSA-199991	Membrane Trafficking
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: 70 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOCC_KINESIN_COMPLEX, TGACCTY_ERR1_Q2, DARWICHE_PAPILLOMA_PROGRESSION_RISK, REACTOME_MEMBRANE_TRAFFICKING, COUP_01, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, HNF4_DR1_Q3, PPAR_DR1_Q2, CYTAGCAAY_UNKNOWN, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_CYTOSKELETAL_PROTEIN_BINDING, COUP_DR1_Q6, GOMF_MICROTUBULE_MOTOR_ACTIVITY

GO Biological Process (1): microtubule-based movement (GO:0007018)

GO Molecular Function (6): 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 (4): cytoplasm (GO:0005737), kinesin complex (GO:0005871), microtubule (GO:0005874), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Golgi-to-ER retrograde transport	1
Factors involved in megakaryocyte development and platelet production	1
Vesicle-mediated transport	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
ATP-dependent activity	2
microtubule-based process	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
cellular anatomical structure	1
microtubule associated complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1094 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF6	TAS2R50	P59544	583
KIF6	CLMN	Q96JQ2	447
KIF6	SLCO1B1	Q9Y6L6	445
KIF6	BNC2	Q6ZN30	432
KIF6	TMEM184C	Q9NVA4	427
KIF6	RAI14	Q9P0K7	425
KIF6	POC5	Q8NA72	419
KIF6	ZC3HC1	Q86WB0	417
KIF6	PSRC1	Q6PGN9	397
KIF6	FBN2	P35556	387
KIF6	ACBD6	Q9BR61	379
KIF6	PTK7	Q13308	377
KIF6	PHACTR1	Q9C0D0	375
KIF6	HMGCR	P04035	373
KIF6	KCNJ2	P48049	372

IntAct

7 interactions, top by confidence:

A	B	Type	Score
KIF6	APPBP2	psi-mi:“MI:0915”(physical association)	0.620
PB2	KIF6	psi-mi:“MI:0915”(physical association)	0.370
KIF6	ACADS	psi-mi:“MI:0914”(association)	0.350
MDC1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (17): HEATR5A (Affinity Capture-MS), SNX16 (Affinity Capture-MS), FEZ2 (Affinity Capture-MS), KIF6 (Two-hybrid), SNX16 (Affinity Capture-MS), HEATR5A (Affinity Capture-MS), FEZ2 (Affinity Capture-MS), MLLT10 (Affinity Capture-MS), ACADS (Affinity Capture-MS), KIF6 (Affinity Capture-MS), SNX16 (Affinity Capture-MS), ACADS (Affinity Capture-MS), HEATR5A (Affinity Capture-MS), FEZ2 (Affinity Capture-MS), KIF6 (Positive Genetic)

ESM2 similar proteins: A2A2Y4, A2VDD2, A7MBL8, B2RQE8, B9EJ86, D4A1F2, E9Q4Z2, E9Q5G3, F1MF74, F1ND48, F1QDI9, G9CGD6, O00763, O08874, O94851, O95630, P0C928, P78563, Q0P4Q4, Q0VGY8, Q16513, Q2TBH6, Q3B8D7, Q498D5, Q4U2V3, Q5R803, Q62698, Q66IC8, Q6F6B3, Q6P9H4, Q6ZMV9, Q76N33, Q7ZU92, Q7ZYZ7, Q8BHD4, Q8BML1, Q8BPM2, Q8IVH8, Q8IZC4, Q8K394

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	114
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4852 predictions. Top by Δscore:

Variant	Effect	Δscore
6:39343707:A:AC	donor_gain	1.0000
6:39343708:C:CC	donor_gain	1.0000
6:39343708:CATTG:C	donor_gain	1.0000
6:39360389:CCATA:C	donor_loss	1.0000
6:39360390:CATA:C	donor_loss	1.0000
6:39360391:ATAC:A	donor_loss	1.0000
6:39360392:TAC:T	donor_loss	1.0000
6:39360393:A:AT	donor_loss	1.0000
6:39360394:C:T	donor_loss	1.0000
6:39360527:ATACC:A	acceptor_loss	1.0000
6:39360528:TAC:T	acceptor_gain	1.0000
6:39360528:TACCT:T	acceptor_loss	1.0000
6:39360530:CCT:C	acceptor_loss	1.0000
6:39360531:CTG:C	acceptor_loss	1.0000
6:39360532:T:A	acceptor_loss	1.0000
6:39362446:T:TA	donor_gain	1.0000
6:39431047:CCTTA:C	donor_loss	1.0000
6:39431048:CTTA:C	donor_loss	1.0000
6:39431049:TTACC:T	donor_loss	1.0000
6:39431050:TAC:T	donor_loss	1.0000
6:39431051:A:AG	donor_loss	1.0000
6:39431052:CCT:C	donor_gain	1.0000
6:39544591:G:C	donor_gain	1.0000
6:39544690:GTTT:G	acceptor_gain	1.0000
6:39544690:GTTTC:G	acceptor_loss	1.0000
6:39544691:TTT:T	acceptor_gain	1.0000
6:39544692:TT:T	acceptor_gain	1.0000
6:39544693:TC:T	acceptor_loss	1.0000
6:39544694:C:CC	acceptor_gain	1.0000
6:39544695:T:G	acceptor_loss	1.0000

AlphaMissense

5402 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:39596070:A:G	L277P	1.000
6:39596148:A:G	L251P	1.000
6:39596148:A:T	L251Q	1.000
6:39639719:C:T	G97E	1.000
6:39639720:C:A	G97W	1.000
6:39584953:C:G	R341P	0.999
6:39584959:G:T	A339E	0.999
6:39584960:C:G	A339P	0.999
6:39584961:A:C	F338L	0.999
6:39584961:A:T	F338L	0.999
6:39584963:A:G	F338L	0.999
6:39586324:A:C	S309R	0.999
6:39586324:A:T	S309R	0.999
6:39586326:T:G	S309R	0.999
6:39586334:A:G	L306P	0.999
6:39586353:A:G	S300P	0.999
6:39586358:C:G	R298T	0.999
6:39586362:A:C	Y297D	0.999
6:39586395:C:G	A286P	0.999
6:39596070:A:T	L277Q	0.999
6:39596078:G:C	N274K	0.999
6:39596078:G:T	N274K	0.999
6:39596142:C:T	G253D	0.999
6:39596143:C:G	G253R	0.999
6:39596145:G:T	A252D	0.999
6:39596151:T:C	D250G	0.999
6:39596151:T:G	D250A	0.999
6:39596152:C:G	D250H	0.999
6:39596154:A:T	V249D	0.999
6:39596157:A:G	L248P	0.999

dbSNP variants (sampled 300 via entrez): RS1000003854 (6:39331311 C>T), RS1000008180 (6:39523602 C>T), RS1000014422 (6:39534542 C>A), RS1000019602 (6:39596936 T>C), RS1000024528 (6:39380497 G>C), RS1000025014 (6:39373490 A>G), RS1000030155 (6:39555110 C>T), RS1000055117 (6:39417771 T>C), RS1000057994 (6:39719381 G>A,C), RS1000058947 (6:39529922 C>T), RS1000058986 (6:39687117 A>C), RS1000084984 (6:39558116 A>T), RS1000087808 (6:39513572 T>A), RS1000091444 (6:39393166 A>C), RS1000102039 (6:39576371 G>A)

Disease associations

OMIM: gene MIM:613919 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST000247_5	Attention deficit hyperactivity disorder symptoms (maternal expressed emotions interaction)	2.000000e-06
GCST001491_12	Immune response to smallpox vaccine (IL-6)	1.000000e-07
GCST001762_654	Obesity-related traits	6.000000e-06
GCST002361_22	Smooth-surface caries	1.000000e-06
GCST005936_2	Supraventricular ectopy	8.000000e-07
GCST009411_15	Optic disc area	2.000000e-06
GCST009416_1	Optic nerve head parameters (multi-trait analysis)	3.000000e-08
GCST009462_37	Optic disc size	1.000000e-13
GCST009464_31	Facial morphology	1.000000e-08
GCST009723_100	Vertical cup-disc ratio (adjusted for vertical disc diameter)	2.000000e-06
GCST009724_6	Vertical cup-disc ratio (multi-trait analysis)	8.000000e-10
GCST010702_24	Subcortical volume (MOSTest)	2.000000e-42
GCST010703_83	Brain morphology (MOSTest)	7.000000e-16
GCST012047_13	Fasting glucose	3.000000e-08
GCST012490_40	Femur bone mineral density x serum urate levels interaction	9.000000e-12
GCST90026416_12	Mild age-related type 2 diabetes	3.000000e-06

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0008342	parental emotion expression measurmement
EFO:0004645	response to vaccine
EFO:0004530	triglyceride measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0009277	supraventricular ectopy
EFO:0006939	cup-to-disc ratio measurement
EFO:0004346	neuroimaging measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3308907 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

4 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs20455	Efficacy	3	simvastatin	Hypercholesterolemia
rs20455	Efficacy	3	rosuvastatin	Hypercholesterolemia
rs20455	Efficacy	3	atorvastatin	Coronary Disease;Hypercholesterolemia;Myocardial Infarction
rs20455	Efficacy	3	pravastatin	Coronary Disease;Myocardial Infarction

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs20455	KIF6	3	5.00	4	simvastatin;atorvastatin;rosuvastatin;pravastatin
rs9462535	KIF6		0.00	0
rs9471077	KIF6		0.00	0

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	7
Arsenic	affects methylation, decreases methylation, increases abundance	2
Benzo(a)pyrene	affects methylation	2
Smoke	decreases expression, increases abundance, increases expression	2
FR900359	increases phosphorylation	1
bisphenol A	decreases methylation	1
trichostatin A	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Atorvastatin	increases response to substance	1
Vorinostat	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Cadmium	decreases expression	1
Formaldehyde	increases expression	1
Malathion	decreases expression	1
Methapyrilene	decreases methylation	1
Tobacco Smoke Pollution	affects expression	1
Aflatoxin B1	increases methylation	1
Metals, Heavy	decreases methylation, increases abundance	1
Cadmium Chloride	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1226593	Binding	Inhibition of RabK6 at 10 uM by puruvate kinsase-lactate dehydrogenase detection system	ATP-competitive inhibitors of the mitotic kinesin KSP that function via an allosteric mechanism. — Nat Chem Biol

Clinical trials (associated diseases)

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