USP40

Summary

USP40 (ubiquitin specific peptidase 40, HGNC:20069) is a protein-coding gene on chromosome 2q37.1, encoding Ubiquitin carboxyl-terminal hydrolase 40 (Q9NVE5). Deubiquitinating enzyme that plays a key role in maintaining endothelial cell (EC) barrier integrity and regulating apoptosis and inflammation.

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).

Source: NCBI Gene 55230 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 241 total
• MANE Select transcript: NM_001365479

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20069
Approved symbol	USP40
Name	ubiquitin specific peptidase 40
Location	2q37.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10785
Ensembl gene	ENSG00000085982
Ensembl biotype	protein_coding
OMIM	610570
Entrez	55230

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 11 protein_coding, 6 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000251722, ENST00000409945, ENST00000427112, ENST00000427947, ENST00000430158, ENST00000443711, ENST00000450940, ENST00000452724, ENST00000454354, ENST00000464956, ENST00000473191, ENST00000483216, ENST00000483519, ENST00000484528, ENST00000485943, ENST00000496298, ENST00000678225, ENST00000922699, ENST00000922700, ENST00000922701, ENST00000968991

RefSeq mRNA: 10 — MANE Select: NM_001365479 NM_001365479, NM_001382295, NM_001382296, NM_001382297, NM_001382298, NM_001382299, NM_001382300, NM_001382301, NM_001382303, NM_018218

CCDS: CCDS46547, CCDS92972, CCDS92973

Canonical transcript exons

ENST00000678225 — 32 exons

Exon	Start	End
ENSE00000786902	233493425	233493551
ENSE00000786903	233491167	233491261
ENSE00000839757	233496758	233496832
ENSE00001876842	233566684	233566782
ENSE00002216732	233512569	233512622
ENSE00002251465	233525478	233525562
ENSE00002258616	233524492	233524562
ENSE00002259805	233523170	233523489
ENSE00002260371	233551376	233551519
ENSE00002271153	233549101	233549229
ENSE00002275168	233533479	233533779
ENSE00002307122	233520991	233521114
ENSE00002308189	233519614	233519671
ENSE00002318327	233554380	233554526
ENSE00003468600	233542268	233542363
ENSE00003470094	233511709	233511797
ENSE00003490040	233481203	233481297
ENSE00003504286	233510049	233510135
ENSE00003508694	233562736	233562803
ENSE00003512393	233485767	233485977
ENSE00003514367	233565356	233565573
ENSE00003537635	233556855	233557019
ENSE00003557182	233559811	233559924
ENSE00003562737	233489365	233489483
ENSE00003569326	233498548	233498612
ENSE00003585508	233485531	233485626
ENSE00003607553	233499879	233499915
ENSE00003640070	233527407	233527578
ENSE00003665521	233488239	233488304
ENSE00003669272	233475526	233477503
ENSE00003675547	233529431	233529512
ENSE00003904294	233540662	233540769

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 94.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8414 / max 300.1042, expressed in 1771 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34592	12.6915	1771
34587	0.4250	125
34585	0.3075	98
34586	0.2806	113
34584	0.0834	42
34591	0.0484	13
34588	0.0050	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	94.62	gold quality
right lobe of thyroid gland	UBERON:0001119	93.90	gold quality
left lobe of thyroid gland	UBERON:0001120	93.89	gold quality
right uterine tube	UBERON:0001302	93.50	gold quality
right adrenal gland cortex	UBERON:0035827	93.06	gold quality
calcaneal tendon	UBERON:0003701	93.05	gold quality
thyroid gland	UBERON:0002046	93.01	gold quality
right adrenal gland	UBERON:0001233	92.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.65	gold quality
sural nerve	UBERON:0015488	92.50	gold quality
left ovary	UBERON:0002119	92.33	gold quality
skin of abdomen	UBERON:0001416	91.77	gold quality
metanephros cortex	UBERON:0010533	91.73	gold quality
left adrenal gland	UBERON:0001234	91.72	gold quality
left adrenal gland cortex	UBERON:0035825	91.72	gold quality
right lobe of liver	UBERON:0001114	91.65	gold quality
body of stomach	UBERON:0001161	91.61	gold quality
right ovary	UBERON:0002118	91.61	gold quality
corpus callosum	UBERON:0002336	91.55	gold quality
spinal cord	UBERON:0002240	91.39	gold quality
skin of leg	UBERON:0001511	91.37	gold quality
tibial nerve	UBERON:0001323	91.28	gold quality
adrenal cortex	UBERON:0001235	91.27	gold quality
adenohypophysis	UBERON:0002196	91.07	gold quality
mucosa of stomach	UBERON:0001199	91.05	gold quality
pituitary gland	UBERON:0000007	91.00	gold quality
adrenal gland	UBERON:0002369	91.00	gold quality
body of pancreas	UBERON:0001150	90.98	gold quality
stomach	UBERON:0000945	90.60	gold quality
minor salivary gland	UBERON:0001830	90.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting USP40, 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-4425	100.00	67.59	1049
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954

Literature-anchored findings (GeneRIF, showing 6)

• Da suggest that genetic variants in USP40 affect the risk for late-onset Parkinson disease (PD), which is consistent with the predicted role of the ubiquitination pathway in PD etiology. (PMID:16917932)
• USP24 alone plays a role in PD susceptibility among Taiwanese people >or=60 years of age, or acting synergistically with USP40 and UCHL1 in the total subjects. (PMID:20302855)
• present study is the first to report a lack of association between SNPs of USP40 and parkinson disease in Han Chinese patients. Other (PMID:22923019)
• Our findings show the de-ubiquitinase USP40 regulates the ubiquitination and degradation of CFLARL; and GMEB1 acts as a bridge protein for USP40 and CFLARL. Mechanistically, we found GMEB1 inhibits the activation of CASP8 by modulating ubiquitination and degradation of CFLARL (PMID:31046799)
• USP40 promotes hepatocellular carcinoma cell proliferation, migration and stemness by deubiquitinating and stabilizing Claudin1. (PMID:38308285)
• USP40 promotes hepatocellular carcinoma progression through a YAP/USP40 positive feedback loop. (PMID:38537774)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	usp40	ENSDARG00000071197
mus_musculus	Usp40	ENSMUSG00000005501
rattus_norvegicus	Usp40	ENSRNOG00000018395

Paralogs (71): USP2 (ENSG00000036672), USP28 (ENSG00000048028), USP36 (ENSG00000055483), USP13 (ENSG00000058056), USP33 (ENSG00000077254), USP48 (ENSG00000090686), USP14 (ENSG00000101557), USP11 (ENSG00000102226), USP10 (ENSG00000103194), USP31 (ENSG00000103404), USP42 (ENSG00000106346), USP5 (ENSG00000111667), USP4 (ENSG00000114316), USP9Y (ENSG00000114374), USP34 (ENSG00000115464), USP35 (ENSG00000118369), USP45 (ENSG00000123552), USP22 (ENSG00000124422), USP9X (ENSG00000124486), USP6 (ENSG00000129204), USP29 (ENSG00000131864), USP26 (ENSG00000134588), USP30 (ENSG00000135093), USP15 (ENSG00000135655), USP37 (ENSG00000135913), USP44 (ENSG00000136014), USP20 (ENSG00000136878), USP8 (ENSG00000138592), USP3 (ENSG00000140455), USP21 (ENSG00000143258), USP43 (ENSG00000154914), USP25 (ENSG00000155313), USP16 (ENSG00000156256), USP24 (ENSG00000162402), USP1 (ENSG00000162607), USP49 (ENSG00000164663), USP38 (ENSG00000170185), USP50 (ENSG00000170236), USP47 (ENSG00000170242), USP32 (ENSG00000170832)

Protein

Protein identifiers

Ubiquitin carboxyl-terminal hydrolase 40 — Q9NVE5 (reviewed: Q9NVE5)

Alternative names: Deubiquitinating enzyme 40, Ubiquitin thioesterase 40, Ubiquitin-specific-processing protease 40

All UniProt accessions (7): Q9NVE5, A0A7I2YQ75, C9JK14, H7BZ71, H7C0C4, H7C2T9, H7C307

UniProt curated annotations — full annotation on UniProt →

Function. Deubiquitinating enzyme that plays a key role in maintaining endothelial cell (EC) barrier integrity and regulating apoptosis and inflammation. Stabilizes Claudin-1/CLDN1 by cleaving its polyubiquitin chains, thereby protecting tight junction structure. Prevents EC barrier disruption by inhibiting RhoA activation and reducing phosphorylation of myosin light chain and cofilin. Suppresses EC inflammation by inhibiting NF-kappa-B activation, decreasing ICAM1 expression, and reducing leukocyte adhesion to ECs. Mediates these protective effects in part via deubiquitination and inactivation of heat shock protein 90-beta/HSP90AB1. Targets CFLAR for ‘Lys-48’-linked deubiquitination, stabilizing its protein levels. This interaction is facilitated by the adapter protein GMEB1, which enhances USP40-CFLAR binding. Through CFLAR stabilization, USP40 inhibits pro-caspase-8 activation and protects against apoptosis. Additionally, USP40 stabilizes HINT1, an activator of p53/TP53, thereby maintaining p53/TP53 levels and sustaining the HINT1-p53/TP53 axis.

Subunit / interactions. Interacts with GMEB1; this interaction allows CFLAR deuiquitination.

Subcellular location. Cytoplasm.

Tissue specificity. Broadly expressed.

Similarity. Belongs to the peptidase C19 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NVE5-1	1	yes
Q9NVE5-2	2
Q9NVE5-3	3

RefSeq proteins (10): NP_001352408, NP_001369224, NP_001369225, NP_001369226, NP_001369227, NP_001369228, NP_001369229, NP_001369230, NP_001369232, NP_060688 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001394	Peptidase_C19_UCH	Domain
IPR018200	USP_CS	Conserved_site
IPR028889	USP	Domain
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily
IPR050164	Peptidase_C19	Family
IPR057763	UBL_USP40	Domain

Pfam: PF00443, PF25822

UniProt features (18 total): splice variant 4, sequence variant 3, mutagenesis site 3, compositionally biased region 2, active site 2, chain 1, domain 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVE5-F1	77.18	0.31

Functional residue map

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

Catalytic / active sites (2): 50 (nucleophile); 305 (proton acceptor)

Mutagenesis-validated functional residues (3):

Position	Phenotype
50	complete loss of deubiquitinase activity.
50	complete loss of deubiquitinase activity; when associated with a-305.
305	complete loss of deubiquitinase activity; when associated with s-50.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 75 (showing top): NKX25_02, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, TGGAAA_NFAT_Q4_01, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, YOSHIMURA_MAPK8_TARGETS_UP, GOMF_UBIQUITIN_LIKE_PROTEIN_PEPTIDASE_ACTIVITY, STAT6_01, DIDO1_TARGET_GENES, FOXN3_TARGET_GENES, H1_6_TARGET_GENES, HOXB4_TARGET_GENES

GO Biological Process (4): proteolysis (GO:0006508), protein deubiquitination (GO:0016579), regulation of protein stability (GO:0031647), negative regulation of apoptotic process (GO:0043066)

GO Molecular Function (4): cysteine-type deubiquitinase activity (GO:0004843), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
protein metabolic process	1
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
regulation of biological quality	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
cysteine-type peptidase activity	1
deubiquitinase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

844 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
USP40	USP25	Q9UHP3	583
USP40	VCPIP1	Q96JH7	543
USP40	USP39	Q53GS9	541
USP40	USP3	Q9Y6I4	503
USP40	USP14	P54578	491
USP40	USP5	P45974	490
USP40	USP13	Q92995	482
USP40	CYLD	Q9NQC7	462
USP40	CHST10	O43529	452
USP40	USP38	Q8NB14	452
USP40	KRTAP27-1	Q3LI81	447
USP40	MROH2A	A6NES4	447
USP40	PAN2	Q504Q3	438
USP40	ALG11	Q2TAA5	431
USP40	OTUD6A	Q7L8S5	427

IntAct

3 interactions, top by confidence:

A	B	Type	Score
RRBP1	USP40	psi-mi:“MI:0915”(physical association)	0.400
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (193): USP40 (Reconstituted Complex), USP40 (Affinity Capture-RNA), USP40 (Reconstituted Complex), USP40 (Affinity Capture-Western), GMEB1 (Affinity Capture-Western), USP40 (Affinity Capture-Western), CFLAR (Affinity Capture-Western), USP40 (Affinity Capture-MS), USP40 (Affinity Capture-RNA), AURKA (Affinity Capture-Western), USP40 (Affinity Capture-Western), HINT1 (Affinity Capture-Western), HINT1 (Two-hybrid), PMS2P1 (Two-hybrid), LINC00657 (Two-hybrid)

ESM2 similar proteins: A0A0R4IB93, A1A5P5, A1Z7K9, A2XDG4, A3AF13, A3KMI0, A6QR55, B2GUZ1, D3ZJ96, F6V6I0, F6Z5C0, F8VPZ3, O22207, P29375, P35123, P51784, Q09879, Q13107, Q14149, Q2HJE4, Q30DN6, Q3UXZ9, Q3V0C5, Q5D006, Q5I043, Q5RCD3, Q5ZID5, Q5ZM45, Q62240, Q6NZP1, Q76LT8, Q80U87, Q80Y84, Q86UV5, Q8BWR4, Q8NFA0, Q8R5C8, Q8R5H1, Q93Y01, Q96RU2

Diamond homologs: A1A5G2, E1C1R4, P38187, P50101, Q09879, Q0E2F9, Q24574, Q4VSI4, Q5U252, Q60MK8, Q6A4J8, Q6U7I1, Q7JKC3, Q84WU2, Q8BWR4, Q8BY87, Q8W4N3, Q93009, Q96K76, Q9FPS9, Q9FPT1, Q9NVE5, Q9UTT1, Q9VYQ8, A0A0R4IB93, A1CIL1, A1CW53, A2Q9N1, A4FUN7, A5D9H7, A5PJS6, A5WWB0, A6QR55, B0Y4P5, B2GUZ1, B3LGK1, B8NSV5, C0HB46, D0RB01, E2RK09

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	185
Likely benign	12
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

5636 predictions. Top by Δscore:

Variant	Effect	Δscore
2:233485627:C:CC	acceptor_gain	1.0000
2:233489360:CCTA:C	donor_loss	1.0000
2:233489362:TA:T	donor_loss	1.0000
2:233489363:A:AT	donor_loss	1.0000
2:233489480:TGGC:T	acceptor_gain	1.0000
2:233489484:C:CA	acceptor_loss	1.0000
2:233489484:C:CC	acceptor_gain	1.0000
2:233496751:ATCTT:A	donor_loss	1.0000
2:233496752:TCTTA:T	donor_loss	1.0000
2:233496753:CTTAC:C	donor_loss	1.0000
2:233496754:TTAC:T	donor_loss	1.0000
2:233496755:TA:T	donor_loss	1.0000
2:233496831:TC:T	acceptor_gain	1.0000
2:233496831:TCCTG:T	acceptor_loss	1.0000
2:233496832:CC:C	acceptor_gain	1.0000
2:233496832:CCT:C	acceptor_loss	1.0000
2:233496833:C:CC	acceptor_gain	1.0000
2:233496833:CT:C	acceptor_loss	1.0000
2:233496834:T:A	acceptor_loss	1.0000
2:233497657:T:TC	acceptor_gain	1.0000
2:233498543:CTTA:C	donor_loss	1.0000
2:233498544:TTA:T	donor_loss	1.0000
2:233498546:A:AC	donor_gain	1.0000
2:233498546:A:AT	donor_loss	1.0000
2:233498546:ACTT:A	donor_gain	1.0000
2:233498547:C:CA	donor_gain	1.0000
2:233498547:CT:C	donor_gain	1.0000
2:233498547:CTT:C	donor_gain	1.0000
2:233498547:CTTC:C	donor_gain	1.0000
2:233498547:CTTCT:C	donor_gain	1.0000

AlphaMissense

8166 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:233533508:C:G	R480P	0.998
2:233533512:A:C	Y479D	0.998
2:233551433:C:A	K260N	0.998
2:233551433:C:G	K260N	0.998
2:233551466:A:C	F249L	0.998
2:233551466:A:T	F249L	0.998
2:233551468:A:G	F249L	0.998
2:233556985:C:G	R139P	0.998
2:233559825:A:G	W123R	0.998
2:233559825:A:T	W123R	0.998
2:233533517:A:G	L477S	0.997
2:233533526:G:T	A474D	0.997
2:233533605:A:G	W448R	0.997
2:233533605:A:T	W448R	0.997
2:233549178:G:C	H297D	0.997
2:233549186:A:T	V294D	0.997
2:233556991:A:G	L137P	0.997
2:233559823:C:A	W123C	0.997
2:233559823:C:G	W123C	0.997
2:233540703:A:G	W376R	0.996
2:233540703:A:T	W376R	0.996
2:233551469:T:A	R248S	0.996
2:233551469:T:G	R248S	0.996
2:233551470:C:G	R248T	0.996
2:233556979:A:G	L141P	0.996
2:233559881:A:G	L104P	0.996
2:233565391:A:G	L55P	0.996
2:233554510:A:G	L188P	0.995
2:233559829:A:C	F121L	0.995
2:233559829:A:T	F121L	0.995

dbSNP variants (sampled 300 via entrez): RS1000050197 (2:233565559 A>C,G), RS1000104114 (2:233519615 T>C), RS1000209925 (2:233477119 A>C,G), RS1000211676 (2:233479354 A>G), RS1000236570 (2:233545894 C>T), RS1000264941 (2:233506210 C>A), RS1000279650 (2:233558539 A>G), RS1000339092 (2:233562489 C>G,T), RS1000394612 (2:233552463 C>A), RS1000497079 (2:233524981 A>C,G), RS1000547440 (2:233480300 G>A), RS1000649724 (2:233532215 G>A,C), RS1000672162 (2:233523001 T>C), RS1000735944 (2:233510721 C>G), RS1000773551 (2:233563671 T>C)

Disease associations

OMIM: gene MIM:610570 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST001091_5	Bilirubin levels	8.000000e-08
GCST001438_2	Crohn’s disease	1.000000e-12
GCST003478_1	Hair greying	7.000000e-06
GCST008817_2	Bilirubin levels	2.000000e-105
GCST010048_3	Bilirubin levels	7.000000e-12
GCST010117_1	Bilirubin levels	5.000000e-08
GCST010796_3476	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_3477	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_3478	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_3479	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010796_3519	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_3520	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3521	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_3522	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_3523	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_3524	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_3525	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST012490_333	Femur bone mineral density x serum urate levels interaction	2.000000e-09
GCST012490_467	Femur bone mineral density x serum urate levels interaction	6.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004570	bilirubin measurement
EFO:0004327	electrocardiography
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methacrylaldehyde	affects cotreatment, increases oxidation, decreases expression, increases abundance	2
Acrolein	affects cotreatment, increases oxidation, decreases expression, increases abundance	2
Ozone	increases abundance, affects cotreatment, increases oxidation, decreases expression	2
Valproic Acid	affects cotreatment, increases expression, affects expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	decreases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	increases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
glycidamide	increases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Arsenic	affects methylation	1
Caffeine	decreases phosphorylation	1
Calcitriol	increases expression	1
Carbamazepine	affects expression	1
Coumestrol	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ketoconazole	decreases expression	1
Lead	decreases expression	1
Urethane	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2KM	Abcam HeLa USP40 KO 1	Cancer cell line	Female
CVCL_B2KN	Abcam HeLa USP40 KO 2	Cancer cell line	Female
CVCL_TW97	HAP1 USP40 (-) 1	Cancer cell line	Male
CVCL_TW98	HAP1 USP40 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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