MYO16

Summary

MYO16 (myosin XVI, HGNC:29822) is a protein-coding gene on chromosome 13q33.3, encoding Unconventional myosin-XVI (Q9Y6X6). Myosins are actin-based motor molecules with ATPase activity.

This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients.

Source: NCBI Gene 23026 — RefSeq curated summary.

At a glance

• GWAS associations: 31
• Clinical variants (ClinVar): 402 total — 1 likely-pathogenic
• MANE Select transcript: NM_001198950

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29822
Approved symbol	MYO16
Name	myosin XVI
Location	13q33.3
Locus type	gene with protein product
Status	Approved
Aliases	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107
Ensembl gene	ENSG00000041515
Ensembl biotype	protein_coding
OMIM	615479
Entrez	23026

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000251041, ENST00000356711, ENST00000375857, ENST00000457511, ENST00000467639, ENST00000482793

RefSeq mRNA: 2 — MANE Select: NM_001198950 NM_001198950, NM_015011

CCDS: CCDS32008, CCDS73598

Canonical transcript exons

ENST00000457511 — 35 exons

Exon	Start	End
ENSE00000686367	109127282	109127550
ENSE00000686370	109125112	109125358
ENSE00000854097	109164901	109165059
ENSE00000854098	109179542	109179633
ENSE00001092360	108785635	108785743
ENSE00001092363	108793516	108793640
ENSE00001092364	108727440	108727583
ENSE00001263166	108712661	108712731
ENSE00001468617	109206609	109208005
ENSE00001468619	109140264	109141376
ENSE00001468621	109120370	109120466
ENSE00001468622	109100785	109100887
ENSE00001468623	109055390	109055595
ENSE00003703187	109055046	109055126
ENSE00003703193	108957688	108957799
ENSE00003703465	108806679	108806804
ENSE00003703681	108820337	108820412
ENSE00003704231	108961539	108961656
ENSE00003704600	108992376	108992448
ENSE00003705419	108866177	108866242
ENSE00003705462	108883059	108883186
ENSE00003706137	108910003	108910150
ENSE00003706145	108964761	108964902
ENSE00003706190	108844343	108844493
ENSE00003706622	108855443	108855553
ENSE00003707014	108962424	108962495
ENSE00003707496	109008897	109009049
ENSE00003707785	108823125	108823278
ENSE00003709124	108888372	108888477
ENSE00003709140	109052300	109052475
ENSE00003709237	109046916	109046991
ENSE00003709771	108898016	108898133
ENSE00003711295	109019711	109019911
ENSE00003716368	108665886	108666149
ENSE00003744648	108629611	108629872

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 82.19.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6143 / max 129.1023, expressed in 109 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
135995	0.1509	47
135993	0.1055	48
135987	0.0716	7
135989	0.0567	15
135991	0.0510	24
135990	0.0498	18
135996	0.0448	16
135988	0.0423	11
135992	0.0311	13
135994	0.0106	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	82.19	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.28	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.99	gold quality
entorhinal cortex	UBERON:0002728	79.04	gold quality
endothelial cell	CL:0000115	78.08	silver quality
middle temporal gyrus	UBERON:0002771	78.03	silver quality
Brodmann (1909) area 23	UBERON:0013554	76.56	silver quality
ganglionic eminence	UBERON:0004023	76.03	gold quality
heart right ventricle	UBERON:0002080	73.91	silver quality
primary visual cortex	UBERON:0002436	71.86	gold quality
Brodmann (1909) area 10	UBERON:0013541	71.79	silver quality
secondary oocyte	CL:0000655	71.67	gold quality
orbitofrontal cortex	UBERON:0004167	71.63	silver quality
superior frontal gyrus	UBERON:0002661	71.62	gold quality
prefrontal cortex	UBERON:0000451	71.26	gold quality
ventricular zone	UBERON:0003053	71.07	gold quality
Brodmann (1909) area 46	UBERON:0006483	70.82	silver quality
postcentral gyrus	UBERON:0002581	70.01	silver quality
temporal lobe	UBERON:0001871	69.47	gold quality
neocortex	UBERON:0001950	69.39	gold quality
frontal cortex	UBERON:0001870	69.33	gold quality
CA1 field of hippocampus	UBERON:0003881	69.19	silver quality
cerebral cortex	UBERON:0000956	69.01	gold quality
frontal pole	UBERON:0002795	68.86	gold quality
buccal mucosa cell	CL:0002336	68.38	silver quality
parietal lobe	UBERON:0001872	68.35	silver quality
paraflocculus	UBERON:0005351	68.35	gold quality
cervix squamous epithelium	UBERON:0006922	67.89	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	67.86	gold quality
occipital lobe	UBERON:0002021	67.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.61
E-HCAD-30	no	361.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

61 targeting MYO16, 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-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785

Literature-anchored findings (GeneRIF, showing 3)

• This study suggest that common variation within MYO16 may contribute to the genetic liability to schizophrenia. (PMID:24141571)
• KIRREL3 interacting proteins MAP1B and MYO16 are potential candidates for intellectual disability and autism spectrum disorder. (PMID:25902260)
• Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus. (PMID:34850884)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo16	ENSDARG00000078582
mus_musculus	Myo16	ENSMUSG00000039057
rattus_norvegicus	Myo16	ENSRNOG00000016483

Paralogs (44): MYH13 (ENSG00000006788), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Unconventional myosin-XVI — Q9Y6X6 (reviewed: Q9Y6X6)

Alternative names: Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 3, Unconventional myosin-16

All UniProt accessions (2): Q9Y6X6, F8W883

UniProt curated annotations — full annotation on UniProt →

Function. Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. May be involved in targeting of the catalytic subunit of protein phosphatase 1 during brain development. Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis.

Subunit / interactions. Binds PPP1CA and/or PPP1CC. Binds F-actin in an ATP-sensitive manner. Interacts with ACOT9, ARHGAP26 and PIK3R2. Interacts with components of the WAVE1 complex, CYFIP1 and NCKAP1; this interaction mediates PI3K-WAVE1 association and actin cytoskeleton remodeling. Interacts with KIRREL3.

Subcellular location. Cytoplasm.

Post-translational modifications. Phosphorylated on tyrosine residues by FYN upon stimulation with CNTN5.

Similarity. In the N-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. In the C-terminal section; belongs to the NYAP family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9Y6X6-1	1	yes
Q9Y6X6-2	2
Q9Y6X6-3	3
Q9Y6X6-4	4

RefSeq proteins (2): NP_001185879, NP_055826 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR029353	NYAP_C	Domain
IPR036042	MYSc_Myo16	Domain
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR039482	NYAP_N	Domain
IPR052838	Myosin-XVI	Family

Pfam: PF00063, PF12796, PF15439, PF15452

UniProt features (44 total): region of interest 9, compositionally biased region 9, sequence variant 8, repeat 7, splice variant 5, sequence conflict 2, domain 2, chain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6X6-F1	63.10	0.19

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): 497–504

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 105 (showing top): GOBP_HINDBRAIN_DEVELOPMENT, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_NEUROGENESIS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_CELL_CYCLE, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GOBP_MITOTIC_CELL_CYCLE, GOBP_HEAD_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION

GO Biological Process (5): negative regulation of cell population proliferation (GO:0008285), cerebellum development (GO:0021549), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), neuron projection morphogenesis (GO:0048812), negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)

GO Molecular Function (8): cytoskeletal motor activity (GO:0003774), ATP binding (GO:0005524), protein phosphatase binding (GO:0019903), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), actin binding (GO:0003779), protein binding (GO:0005515), protein-containing complex binding (GO:0044877)

GO Cellular Component (5): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), plasma membrane (GO:0005886), myosin complex (GO:0016459), perinuclear region of cytoplasm (GO:0048471)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
metencephalon development	1
anatomical structure development	1
intracellular signaling cassette	1
neuron projection development	1
plasma membrane bounded cell projection morphogenesis	1
G1/S transition of mitotic cell cycle	1
negative regulation of mitotic cell cycle phase transition	1
negative regulation of cell cycle G1/S phase transition	1
regulation of G1/S transition of mitotic cell cycle	1
molecular_function	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
phosphatase binding	1
actin binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
cytoskeletal protein binding	1
nuclear lumen	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
actin cytoskeleton	1
protein-containing complex	1
cytoplasm	1

Protein interactions and networks

STRING

914 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO16	PRAMEF25	A6NGN4	595
MYO16	ISLR	O14498	512
MYO16	FRMD3	A2A2Y4	478
MYO16	NYAP1	Q6ZVC0	476
MYO16	ANLN	Q9NQW6	432
MYO16	NYAP2	Q9P242	428
MYO16	PPP1CA	P08129	413
MYO16	COL5A2	P05997	388
MYO16	EFEMP2	O95967	387
MYO16	COL18A1	P39060	384
MYO16	NOL10	Q9BSC4	378
MYO16	CPVL	Q9H3G5	368
MYO16	COL3A1	P02461	367
MYO16	COL1A2	P02464	366
MYO16	A0A2R8YEI5	A0A2R8YEI5	333

IntAct

13 interactions, top by confidence:

A	B	Type	Score
KIRREL3	MYO16	psi-mi:“MI:0915”(physical association)	0.540
KIRREL3	MYO16	psi-mi:“MI:0403”(colocalization)	0.540
PIK3R1	MYO16	psi-mi:“MI:0915”(physical association)	0.400
MYO16	NCKAP1	psi-mi:“MI:0915”(physical association)	0.400
MYO16	CYFIP1	psi-mi:“MI:0915”(physical association)	0.400
MYO16	ARHGAP26	psi-mi:“MI:0915”(physical association)	0.400
ACOT9	MYO16	psi-mi:“MI:0915”(physical association)	0.400
NRXN1	MYO16	psi-mi:“MI:0915”(physical association)	0.370
ESR2	PSMD11	psi-mi:“MI:0914”(association)	0.350
FYN	MYO16	psi-mi:“MI:0915”(physical association)	0.000
TRAF3IP1	MYO16	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): NCKAP1 (Affinity Capture-Western), CYFIP2 (Affinity Capture-Western), CYFIP1 (Reconstituted Complex), NCKAP1 (Reconstituted Complex), PIK3R1 (Reconstituted Complex), ARHGAP26 (Affinity Capture-Western), ACOT9 (Affinity Capture-Western), MYO16 (Proximity Label-MS), MYO16 (Affinity Capture-MS), MYO16 (Affinity Capture-Western), MYO16 (Affinity Capture-Western), TTN (Cross-Linking-MS (XL-MS)), MYO16 (Two-hybrid)

ESM2 similar proteins: A5PF48, A6H750, A7E2Y1, A8WFU8, D3ZJP6, F8VQB6, O14830, O35385, O74805, P70096, P79114, P91443, P97479, Q01989, Q02108, Q13402, Q14680, Q17LW0, Q1EG27, Q29P71, Q4KWH5, Q4ZHS0, Q569U0, Q5DU14, Q5I0E8, Q5SV80, Q5XI51, Q61846, Q622K8, Q62909, Q6P3R1, Q6PIF6, Q7ZYL5, Q8C0N1, Q8K3H5, Q8N1T3, Q8N4N8, Q8NEV4, Q8WXR4, Q922S8

Diamond homologs: A0MP03, A2AQP0, A5PF48, A7E2Y1, B2RTY4, D3ZJP6, E7EZG2, F4HWY6, F4HXP9, F4I460, F4I507, F4I5Q6, F4IRU3, F4IUG9, F4IVR7, F4JIU4, F4JM19, F4K0A6, F4K5J1, F8VQB6, K7U9N8, O43795, O74805, O88329, O94477, P02564, P05659, P08799, P10676, P11055, P12844, P12847, P12883, P13541, P14105, P19524, P21271, P24733, P32492, P34092

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	293
Likely benign	47
Benign	45

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
625282	NM_001198950.3(MYO16):c.1477C>T (p.Pro493Ser)	Likely pathogenic

SpliceAI

8332 predictions. Top by Δscore:

Variant	Effect	Δscore
13:108666146:GAAG:G	donor_gain	1.0000
13:108712659:A:AG	acceptor_gain	1.0000
13:108712660:G:GA	acceptor_gain	1.0000
13:108727436:TTAGT:T	acceptor_loss	1.0000
13:108727438:A:AG	acceptor_gain	1.0000
13:108727438:AGT:A	acceptor_gain	1.0000
13:108727438:AGTGT:A	acceptor_gain	1.0000
13:108727439:G:GT	acceptor_gain	1.0000
13:108727439:GT:G	acceptor_gain	1.0000
13:108727439:GTG:G	acceptor_gain	1.0000
13:108727439:GTGT:G	acceptor_gain	1.0000
13:108727439:GTGTG:G	acceptor_gain	1.0000
13:108727579:TATTA:T	donor_gain	1.0000
13:108727580:ATTA:A	donor_gain	1.0000
13:108727581:TTA:T	donor_gain	1.0000
13:108727581:TTAG:T	donor_loss	1.0000
13:108727582:TA:T	donor_gain	1.0000
13:108727583:AG:A	donor_loss	1.0000
13:108727584:GTAA:G	donor_gain	1.0000
13:108727585:TA:T	donor_loss	1.0000
13:108727586:AAGT:A	donor_loss	1.0000
13:108727587:AGT:A	donor_loss	1.0000
13:108727588:G:GG	donor_gain	1.0000
13:108785630:TCTA:T	acceptor_loss	1.0000
13:108785631:CTA:C	acceptor_loss	1.0000
13:108785632:TAGG:T	acceptor_loss	1.0000
13:108785633:A:AC	acceptor_loss	1.0000
13:108785634:GGCT:G	acceptor_gain	1.0000
13:108785741:ATGG:A	donor_loss	1.0000
13:108785744:G:GG	donor_gain	1.0000

AlphaMissense

12373 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:109127471:G:C	R1302S	0.998
13:109127471:G:T	R1302S	0.998
13:108855531:G:C	R424P	0.997
13:109055511:T:C	L1062P	0.997
13:108665955:T:C	L11P	0.996
13:108665993:C:A	R24S	0.996
13:108727521:T:A	W127R	0.996
13:108727521:T:C	W127R	0.996
13:108806788:C:A	A262E	0.996
13:108806790:G:C	A263P	0.996
13:108806791:C:A	A263D	0.996
13:108823158:T:C	L304P	0.996
13:109125123:T:C	F1161L	0.996
13:109125125:T:A	F1161L	0.996
13:109125125:T:G	F1161L	0.996
13:109125133:G:C	R1164P	0.996
13:109127460:A:G	K1299E	0.996
13:109127462:G:C	K1299N	0.996
13:109127462:G:T	K1299N	0.996
13:109127470:G:T	R1302M	0.996
13:109127490:A:C	S1309R	0.996
13:109127492:T:A	S1309R	0.996
13:109127492:T:G	S1309R	0.996
13:108665946:T:C	L8P	0.995
13:108665979:T:C	L19P	0.995
13:108823131:C:A	A295D	0.995
13:108855530:C:A	R424S	0.995
13:109140287:A:C	S1337R	0.995
13:109140289:C:A	S1337R	0.995
13:109140289:C:G	S1337R	0.995

dbSNP variants (sampled 300 via entrez): RS1000000332 (13:108604465 T>C), RS1000000632 (13:108826547 G>A), RS1000001477 (13:108955352 T>A), RS1000005809 (13:108920063 T>C), RS1000009938 (13:108986266 A>G), RS1000017759 (13:108737062 A>C), RS1000018163 (13:108724468 CTG>C), RS1000018344 (13:108534170 T>C), RS1000018700 (13:109115314 A>G), RS1000023573 (13:109074303 A>G,T), RS1000024564 (13:108910354 T>C), RS1000026038 (13:109117152 G>A,C), RS1000031743 (13:108999355 TC>T), RS1000033411 (13:108718783 A>G), RS1000036096 (13:108712989 A>G)

Disease associations

OMIM: gene MIM:615479 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): prostate cancer (MONDO:0008315)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST001598_4	Blood pressure	7.000000e-07
GCST001713_1	Dental caries	7.000000e-06
GCST001762_871	Obesity-related traits	3.000000e-06
GCST001872_6	Presence of antiphospholipid antibodies	2.000000e-06
GCST001915_32	Alzheimer’s disease (cognitive decline)	2.000000e-08
GCST002719_5	Seasonality	5.000000e-06
GCST003999_6	Nose size	3.000000e-10
GCST004601_171	Red blood cell count	3.000000e-11
GCST004602_171	Mean corpuscular volume	1.000000e-11
GCST004625_140	Monocyte count	9.000000e-11
GCST004630_194	Mean corpuscular hemoglobin	3.000000e-12
GCST005152_11	Colorectal cancer	6.000000e-07
GCST005352_24	Paclitaxel disposition in epithelial ovarian cancer	2.000000e-06
GCST006138_26	Resting-state electroencephalogram vigilance	2.000000e-06
GCST007431_19	Lung function (FEV1/FVC)	3.000000e-14
GCST007576_123	Chronotype	4.000000e-10
GCST007600_61	Alzheimer’s disease	1.000000e-06
GCST009612_1	Triglyceride levels x thiazide or thiazide-like diuretics use interaction	1.000000e-07
GCST009723_6	Vertical cup-disc ratio (adjusted for vertical disc diameter)	9.000000e-13
GCST009724_52	Vertical cup-disc ratio (multi-trait analysis)	2.000000e-12
GCST012145_5	Ferritin levels	3.000000e-06
GCST012490_230	Femur bone mineral density x serum urate levels interaction	3.000000e-10
GCST90002381_590	Eosinophil count	6.000000e-10
GCST90002390_194	Mean corpuscular hemoglobin	3.000000e-20
GCST90002392_414	Mean corpuscular volume	3.000000e-24
GCST90002393_302	Monocyte count	5.000000e-15
GCST90002394_398	Monocyte percentage of white cells	3.000000e-10
GCST90002396_554	Mean reticulocyte volume	2.000000e-18
GCST90002397_64	Mean spheric corpuscular volume	1.000000e-16
GCST90002403_496	Red blood cell count	5.000000e-16

EFO canonical traits (16, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement
EFO:0006876	seasonality measurement
EFO:0004305	erythrocyte count
EFO:0005091	monocyte count
EFO:0004527	mean corpuscular hemoglobin
EFO:0004357	electroencephalogram measurement
EFO:0004713	FEV/FVC ratio
EFO:0008328	chronotype measurement
EFO:0004530	triglyceride measurement
EFO:0006939	cup-to-disc ratio measurement
EFO:0004459	ferritin measurement
EFO:0004531	urate measurement
EFO:0004842	eosinophil count
EFO:0007989	monocyte percentage of leukocytes
EFO:0010701	mean reticulocyte volume
EFO:0009188	Red cell distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
methyleugenol	decreases expression	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	increases methylation	1
coumarin	increases phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
abrine	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Lead	affects expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Methapyrilene	decreases methylation	1
N-Nitrosopyrrolidine	decreases expression	1
Progesterone	increases expression	1
Smoke	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Butyric Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer