ACYP2

Summary

ACYP2 (acylphosphatase 2, HGNC:180) is a protein-coding gene on chromosome 2p16.2, encoding Acylphosphatase-2 (P14621). Its physiological role is not yet clear.

Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 98 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 122 total — 1 pathogenic
• MANE Select transcript: NM_138448

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:180
Approved symbol	ACYP2
Name	acylphosphatase 2
Location	2p16.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170634
Ensembl biotype	protein_coding
OMIM	102595
Entrez	98

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000303536, ENST00000394666, ENST00000406041, ENST00000422521, ENST00000458030, ENST00000494922, ENST00000606082, ENST00000606865, ENST00000607452

RefSeq mRNA: 5 — MANE Select: NM_138448 NM_001320586, NM_001320587, NM_001320589, NM_001320590, NM_138448

CCDS: CCDS1850, CCDS82452, CCDS92753, CCDS92754

Canonical transcript exons

ENST00000394666 — 4 exons

Exon	Start	End
ENSE00001305732	54304688	54305300
ENSE00001629617	54115615	54115756
ENSE00003695915	54138639	54138748
ENSE00003697986	54135453	54135469

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 98.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.7206 / max 325.6449, expressed in 1810 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
20245	17.0289	1732
20239	7.0668	1732
20243	3.5256	1530
20242	0.8955	574
20240	0.5364	209
20244	0.4375	187
20249	0.1339	65
20248	0.0961	55

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pons	UBERON:0000988	98.44	gold quality
biceps brachii	UBERON:0001507	98.06	gold quality
diaphragm	UBERON:0001103	98.05	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.94	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.79	gold quality
vastus lateralis	UBERON:0001379	97.75	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.75	gold quality
body of tongue	UBERON:0011876	97.68	gold quality
gastrocnemius	UBERON:0001388	97.58	gold quality
quadriceps femoris	UBERON:0001377	97.56	gold quality
skeletal muscle tissue	UBERON:0001134	97.54	gold quality
spinal cord	UBERON:0002240	97.54	gold quality
superior vestibular nucleus	UBERON:0007227	97.40	gold quality
muscle organ	UBERON:0001630	97.25	gold quality
gluteal muscle	UBERON:0002000	97.21	gold quality
putamen	UBERON:0001874	97.17	gold quality
muscle of leg	UBERON:0001383	97.08	gold quality
nucleus accumbens	UBERON:0001882	97.08	gold quality
inferior vagus X ganglion	UBERON:0005363	97.07	gold quality
subthalamic nucleus	UBERON:0001906	97.02	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.93	gold quality
caudate nucleus	UBERON:0001873	96.88	gold quality
substantia nigra	UBERON:0002038	96.80	gold quality
medial globus pallidus	UBERON:0002477	96.77	gold quality
amygdala	UBERON:0001876	96.73	gold quality
midbrain	UBERON:0001891	96.73	gold quality
globus pallidus	UBERON:0001875	96.72	gold quality
triceps brachii	UBERON:0001509	96.62	gold quality
hypothalamus	UBERON:0001898	96.51	gold quality
deltoid	UBERON:0001476	96.31	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.03

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

34 targeting ACYP2, 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-5011-5P	100.00	83.46	5820
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-522-3P	98.91	68.56	1817
HSA-MIR-224-3P	98.91	68.42	1815
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-487A-5P	98.85	69.37	993
HSA-MIR-487B-5P	98.85	69.48	987
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-6728-3P	98.63	67.63	1534

Literature-anchored findings (GeneRIF, showing 32)

• Mutational analysis of acylphosphatase suggests the importance of topology and contact order in protein folding. (PMID:10542090)
• effects of 40 single point mutations on the conversion of the denatured form of the alpha/beta protein acylphosphatase (AcP) into insoluble aggregates (PMID:11799398)
• studies of aggregates formed from human muscle acylphosphatase and disaggregation suggests that amyloid formation occurs in discrete steps whose reversibility is increasingly difficult, and dependent on the size of the aggregates (PMID:15670608)
• Most of the conserved glycine residues in this protein could have been maintained during evolution because of their ability to inhibit amyloid aggregation. (PMID:16084386)
• extensive mutational analysis of aggregation and disaggregation of amyloid-like protofibrils of muscle acylphosphatase (PMID:18809411)
• The study used a stopped-flow device coupled to turbidometry detection to monitor the rapid conversion of human muscle acylphosphatase into oligomers with varying heparan sulfate and protein concentrations. (PMID:22522822)
• Enhanced stability is observed upon modifications of a loop region in the enzyme acylphosphatase and is achieved despite significant enthalpy losses. (PMID:23754389)
• The ACYP2 risk variant strongly predisposed these patients to precipitous hearing loss and was related to ototoxicity severity. (PMID:25665007)
• These findings suggest a minor role of the single nucleotide polymorphisms of ACYP2 investigated as genetic determinants of chronic oxaliplatin-induced peripheral neurotoxicity. (PMID:25858589)
• Results shown that the previously reported association of an ACYP2 variant with cisplatin-induced hearing loss in pediatric brain tumor patients could be replicated in an independent cohort of patients with osteosarcoma. Therefor, the ACYP2 variant should be considered a predictor of cisplatin-induced hearing loss in patients with osteosarcoma or other solid tumors (PMID:26928270)
• Data show that the acylphosphatase 2 (ACYP2) gene polymorphism significantly decreased the risk of high altitude pulmonary edema (HAPE). (PMID:27552709)
• the genetic polymorphisms of ACYP2 and TSPYL6 are associated with increased risk of developing ischemic stroke (PMID:27686078)
• Findings indicate significant associations between single nucleotide oolymorphism (SNPs) in the acylphosphatase 2 (ACYP2) gene and breast cancer (BC) risk in a Han Chinese population. (PMID:27894080)
• three SNPs in ACYP2 (rs1682111, rs11896604 and rs843720) associate with lung cancer in the Chinese Han population. (PMID:27974682)
• Genetic polymorphisms in the telomere length-related gene ACYP2 are associated with the risk of colorectal cancer in a Chinese Han population. (PMID:28039478)
• Rs6713088, rs843752, and rs17045754 associated with high-altitude pulmonary edema risk (PMID:28353602)
• Our results indicate that ACYP2 polymorphisms may influence the GC risk and may serve as a new precursory biomarker in the northwest Chinese Han population. (PMID:28415712)
• ACYP2 gene may be associated with an increased risk of esophageal carcinoma in Chinese Han populations. Future studies to address the biological function of this polymorphism in the development of esophageal carcinoma are warranted. (PMID:28424424)
• Results found an association between the ACYP2 rs1872328 polymorphism and cisplatin-induced ototoxicity. (PMID:28445188)
• Minor allele of rs1682111 and rs10439478 within acylphosphatase 2 gene and its interaction were associated with increased breast cancer in Chinese Han women. (PMID:29033240)
• This study has provided the first evidence for the role of ACYP2 rs1872328 in cisplatin-induced ototoxicity in patients with testicular cancer. (PMID:29358504)
• Traditional genome-wide association studies have identified single-nucleotide polymorphisms in ACYP2 and WFS1 associated with cisplatin-induced hearing loss. (PMID:30305294)
• rs6713088, rs843711 and rs11896604 of ACY2 gene were correlated with an increased risk of Gastrointestinal cancer. (PMID:31070019)
• ACYP2 rs1682111 was associated with the risk of cancer. ACYP2 gene high expression was found to be associated with better overall survial for all liver patients. (PMID:31124313)
• rs1682111 variant was significantly associated with a decreased laryngeal squamous cell carcinoma (LSCC)susceptibility. Polymorphisms of rs10439478, rs11125529, rs12615793, rs843711, rs11896604, rs17045754 were significantly associated with an increased LSCC risk (p < 0.05). The results of haplotype analysis indicated that “TTCTCG” and “TTCTAA” in block 1 and “TG” in block 2 showed risk factor for development of LSCC. (PMID:31140742)
• findings suggested that polymorphisms (rs843720 and rs12615793) of ACYP2 may be pivotal in the development of IgAN (PMID:31291640)
• ACYP2 polymorphisms are associated with the risk of renal cell cancer. (PMID:31487124)
• ACYP2 contributes to malignant progression of glioma through promoting Ca(2+) efflux and subsequently activating c-Myc and STAT3 signals. (PMID:32517717)
• The influence of TERC, TERT and ACYP2 genes polymorphisms on plasma telomerase concentration, telomeres length and T2DM. (PMID:32937184)
• Telomere Length and Male Fertility. (PMID:33921254)
• Study of the effect of ACYP2 single nucleotide polymorphisms rs843711 and rs843706 in Egyptian patients with hepatocellular carcinoma. (PMID:38615271)
• Transcription factor 7 like 2 gene polymorphism and advanced glycation end products as risk factors for diabetic nephropathy. (PMID:38985530)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	acyp2	ENSDARG00000086271
mus_musculus	Acyp2	ENSMUSG00000060923
rattus_norvegicus	Acyp2	ENSRNOG00000042419

Paralogs (1): ACYP1 (ENSG00000119640)

Protein

Protein identifiers

Acylphosphatase-2 — P14621 (reviewed: P14621)

Alternative names: Acylphosphatase, muscle type isozyme, Acylphosphate phosphohydrolase 2

All UniProt accessions (9): P14621, A0A140VJD7, E9PF46, F8WA34, U3KPX1, U3KPX8, U3KQ09, U3KQ94, U3KQL2

UniProt curated annotations — full annotation on UniProt →

Function. Its physiological role is not yet clear.

Similarity. Belongs to the acylphosphatase family.

RefSeq proteins (5): NP_001307515, NP_001307516, NP_001307518, NP_001307519, NP_612457* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001792	Acylphosphatase-like_dom	Domain
IPR017968	Acylphosphatase_CS	Conserved_site
IPR020456	Acylphosphatase	Family
IPR036046	Acylphosphatase-like_dom_sf	Homologous_superfamily

Pfam: PF00708

Enzyme classification (BRENDA):

• EC 3.6.1.7 — acylphosphatase (BRENDA: 24 organisms, 135 substrates, 92 inhibitors, 58 Km, 22 kcat entries)

Substrate kinetics (BRENDA)

7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
BENZOYL PHOSPHATE	0.12–2.1	33
ACETYL PHOSPHATE	1.08–8.53	6
1,3-DIPHOSPHOGLYCERATE	0.12–1.6	4
NA+/K+-ATPASE PHOSPHOENZYME INTERMEDIATE	0.0001	4
CARBAMOYL PHOSPHATE	4.2–5.42	2
BENZOYLPHOSPHATE	0.8	1
CA2+-ATPASE PHOSPHOENZYME INTERMEDIATE	—	1

Catalyzed reactions (Rhea), 1 shown:

• an acyl phosphate + H2O = a carboxylate + phosphate + H(+) (RHEA:14965)

UniProt features (7 total): active site 2, modified residue 2, initiator methionine 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P14621-F1	95.94	0.94

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 24; 42

Post-translational modifications (2): 2, 93

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 177 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, CHANDRAN_METASTASIS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, COATES_MACROPHAGE_M1_VS_M2_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, SCHLOSSER_SERUM_RESPONSE_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, NADLER_HYPERGLYCEMIA_AT_OBESITY, MODULE_48, DANG_BOUND_BY_MYC, MODULE_95, BURTON_ADIPOGENESIS_6, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_CDC25_DN, TGGAAA_NFAT_Q4_01, CHIANG_LIVER_CANCER_SUBCLASS_PROLIFERATION_DN

GO Biological Process (1): phosphate-containing compound metabolic process (GO:0006796)

GO Molecular Function (4): acylphosphatase activity (GO:0003998), identical protein binding (GO:0042802), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (1): mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metabolic process	1
pyrophosphatase activity	1
protein binding	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

516 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACYP2	ZNF208	O43345	782
ACYP2	TSPYL6	Q8N831	696
ACYP2	RTEL1	Q9NZ71	670
ACYP2	ZNF676	Q8N7Q3	667
ACYP2	STN1	Q9H668	666
ACYP2	NDUFAB1	O14561	641
ACYP2	CTC1	Q2NKJ3	604
ACYP2	TPMT	P51580	588
ACYP2	DHX35	Q9H5Z1	571
ACYP2	PXK	Q7Z7A4	544
ACYP2	SLC16A5	O15375	511
ACYP2	DCAF4	Q8WV16	507
ACYP2	MPHOSPH6	Q99547	480
ACYP2	TERT	O14746	480
ACYP2	ZNF311	Q5JNZ3	418

IntAct

12 interactions, top by confidence:

A	B	Type	Score
ACYP2	ACYP2	psi-mi:“MI:0407”(direct interaction)	0.680
ACYP2	SULT2B1	psi-mi:“MI:0915”(physical association)	0.560
CREBZF	ACYP2	psi-mi:“MI:0915”(physical association)	0.560
SULT2B1	ACYP2	psi-mi:“MI:0915”(physical association)	0.560
ACYP2	CREBZF	psi-mi:“MI:0915”(physical association)	0.560
WFDC2	TPM3	psi-mi:“MI:0914”(association)	0.350
ACYP2	OGA	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): SULT2B1 (Two-hybrid), CREBZF (Two-hybrid), ACYP2 (Affinity Capture-MS), ACYP2 (Affinity Capture-MS), ACYP2 (Affinity Capture-RNA), GFPT2 (Affinity Capture-MS), MGEA5 (Affinity Capture-MS), CARM1 (Affinity Capture-MS), BCS1L (Affinity Capture-MS), ACYP2 (Affinity Capture-MS), ACYP2 (Affinity Capture-MS), ACYP2 (Affinity Capture-MS), ACYP2 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0U1WZ18, A0A1S4A695, A3QK15, B9N1F9, E0CSI1, O15305, O23653, O35621, P00818, P00819, P00820, P00821, P00860, P07031, P07032, P07033, P07311, P09057, P11926, P14019, P14620, P14621, P24540, P27117, P27118, P27119, P27120, P35744, P35745, P41500, P56375, P56376, P78330, Q1W374, Q1W377, Q28FK7, Q3T186, Q5EBE1, Q5RB83, Q5VST6

Diamond homologs: A0B3Q5, A0LI66, A1KAG5, A1RU25, A1RZ22, A1S579, A1SPV1, A1TZV5, A1VW83, A1WDC8, A1WUX3, A3MU96, A4JK94, A4WHP6, A4YHE5, A5D1R6, A5FQM9, A5G1Y9, A5GA97, A5UQ40, A5VFP2, A6UH73, A6VA18, A7H8A3, A7Z2E2, A8F4E8, A8FAY5, A8I5S8, A8MC09, A9FGA8, A9KH12, A9WAI7, B0C8Q6, O35031, P14621, P84142, Q07L15, Q0ABB1, Q0B602, Q0BUL9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	96
Likely benign	9
Benign	11

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
442274	GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1	Pathogenic

SpliceAI

2561 predictions. Top by Δscore:

Variant	Effect	Δscore
2:54115745:G:GT	donor_gain	1.0000
2:54115755:GG:G	donor_gain	1.0000
2:54115756:GG:G	donor_gain	1.0000
2:54138621:T:A	acceptor_gain	1.0000
2:54138631:T:TA	acceptor_gain	1.0000
2:54138635:ACAG:A	acceptor_loss	1.0000
2:54138637:A:AG	acceptor_gain	1.0000
2:54138638:G:GG	acceptor_gain	1.0000
2:54138638:GT:G	acceptor_gain	1.0000
2:54138638:GTA:G	acceptor_gain	1.0000
2:54138638:GTAT:G	acceptor_gain	1.0000
2:54138746:CATGT:C	donor_loss	1.0000
2:54138748:TGT:T	donor_loss	1.0000
2:54138749:G:GC	donor_loss	1.0000
2:54138749:G:GG	donor_gain	1.0000
2:54138750:T:A	donor_loss	1.0000
2:54138751:G:GT	donor_loss	1.0000
2:54149329:GCAT:G	donor_gain	1.0000
2:54115754:AGGG:A	donor_loss	0.9900
2:54115757:G:T	donor_gain	0.9900
2:54115758:T:A	donor_loss	0.9900
2:54115944:G:GT	donor_gain	0.9900
2:54115964:G:T	donor_gain	0.9900
2:54135196:GGA:G	donor_gain	0.9900
2:54138634:A:AG	acceptor_gain	0.9900
2:54138635:A:G	acceptor_gain	0.9900
2:54138638:GTATA:G	acceptor_gain	0.9900
2:54138746:CAT:C	donor_gain	0.9900
2:54138752:AGTAG:A	donor_loss	0.9900
2:54149333:G:GG	donor_gain	0.9900

AlphaMissense

651 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:54115745:G:A	G16E	0.995
2:54138676:G:A	G38D	0.994
2:54138712:G:A	G50D	0.994
2:54304785:T:C	F95L	0.994
2:54304787:T:A	F95L	0.994
2:54304787:T:G	F95L	0.994
2:54138724:G:A	G54E	0.993
2:54115744:G:A	G16R	0.992
2:54115744:G:C	G16R	0.992
2:54138675:G:C	G38R	0.992
2:54115745:G:T	G16V	0.991
2:54138689:T:A	N42K	0.991
2:54138689:T:G	N42K	0.991
2:54304711:G:A	G70E	0.991
2:54138655:C:A	A31D	0.990
2:54138721:A:C	Q53P	0.990
2:54138723:G:A	G54R	0.990
2:54138723:G:C	G54R	0.990
2:54304713:A:C	S71R	0.990
2:54304715:C:A	S71R	0.990
2:54304715:C:G	S71R	0.990
2:54135461:T:C	F23L	0.989
2:54135463:C:A	F23L	0.989
2:54135463:C:G	F23L	0.989
2:54138706:T:A	V48E	0.989
2:54138711:G:C	G50R	0.989
2:54138678:T:A	W39R	0.988
2:54138678:T:C	W39R	0.988
2:54138739:T:A	V59D	0.988
2:54135462:T:C	F23S	0.987

dbSNP variants (sampled 300 via entrez): RS1000000610 (2:53994079 C>A,T), RS1000002880 (2:54123850 G>A,C,T), RS1000007960 (2:54278042 C>T), RS1000021973 (2:54016934 C>A,T), RS1000029589 (2:54072765 G>T), RS1000030514 (2:54257697 A>G), RS1000034673 (2:53981125 C>T), RS1000049475 (2:53976027 C>T), RS1000049804 (2:54139878 A>G,T), RS1000052279 (2:54038820 TAAATA>T), RS1000055797 (2:54028817 G>A,T), RS1000065405 (2:54126594 T>C), RS1000068604 (2:53998441 G>A), RS1000070051 (2:54081564 C>G,T), RS1000071602 (2:54115504 C>T)

Disease associations

OMIM: gene MIM:102595 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST001099_21	Sudden cardiac arrest	4.000000e-08
GCST001936_3	Telomere length	8.000000e-10
GCST003837_13	Chronotype	4.000000e-08
GCST003838_12	Morning vs. evening chronotype	4.000000e-08
GCST006585_2438	Blood protein levels	5.000000e-29
GCST006979_879	Heel bone mineral density	8.000000e-10
GCST007576_117	Chronotype	6.000000e-09
GCST008366_24	Leukocyte telomere length	5.000000e-10
GCST009856_22	Leukocyte telomere length	8.000000e-08
GCST010002_365	Refractive error	3.000000e-34
GCST012488_36	L1-L4 bone mineral density x serum urate levels interaction	8.000000e-07

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004278	sudden cardiac arrest
EFO:0009270	heel bone mineral density
EFO:0008328	chronotype measurement
EFO:0004531	urate measurement
EFO:0007701	spine bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1872328	Toxicity	3	cisplatin	Brain Neoplasms;Hearing Loss;Ototoxicity

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs843748	ACYP2		0.00	0
rs1872328	ACYP2	3	4.75	1	cisplatin

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	5
Benzo(a)pyrene	affects methylation, decreases expression	4
bisphenol A	increases methylation, increases expression	2
Cisplatin	decreases expression, increases response to substance, affects cotreatment	2
Estradiol	affects cotreatment, decreases expression	2
Cadmium Chloride	increases expression	2
methyleugenol	decreases expression	1
oxadiazon	increases expression, affects response to substance, increases activity, affects reaction, decreases reaction	1
arsenite	affects binding, increases reaction	1
N-(1,3-dimethylbutyl)-N’-phenyl-1,4-phenylenediamine	affects response to substance	1
sodium arsenite	increases expression	1
dichloroacetonitrile	affects response to substance	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
NSC 689534	increases expression, affects binding	1
MT19c compound	increases expression	1
bisphenol AF	increases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Atrazine	increases expression	1
Biological Factors	increases expression	1
Copper	affects binding, increases expression	1
Demecolcine	increases expression	1
Doxorubicin	decreases expression	1
Chlordecone	affects response to substance	1
Nickel	decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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