USP38

Summary

USP38 (ubiquitin specific peptidase 38, HGNC:20067) is a protein-coding gene on chromosome 4q31.21, encoding Ubiquitin carboxyl-terminal hydrolase 38 (Q8NB14). Deubiquitinating enzyme that plays a role in various cellular processes, including DNA repair, cell cycle regulation, and immune response.

Enables cysteine-type deubiquitinase activity and protein sequestering activity. Involved in negative regulation of innate immune response; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and protein K33-linked deubiquitination. Is active in cytoplasm.

Source: NCBI Gene 84640 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 147 total
• MANE Select transcript: NM_032557

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20067
Approved symbol	USP38
Name	ubiquitin specific peptidase 38
Location	4q31.21
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1891, HP43.8KD
Ensembl gene	ENSG00000170185
Ensembl biotype	protein_coding
OMIM	618322
Entrez	84640

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron

ENST00000307017, ENST00000510377, ENST00000511739, ENST00000682469, ENST00000682486, ENST00000683224, ENST00000684346, ENST00000684586, ENST00000684615, ENST00000919754, ENST00000958020

RefSeq mRNA: 4 — MANE Select: NM_032557 NM_001290325, NM_001290326, NM_001410848, NM_032557

CCDS: CCDS3758, CCDS77964, CCDS93639

Canonical transcript exons

ENST00000307017 — 10 exons

Exon	Start	End
ENSE00001133933	143203408	143203566
ENSE00001190934	143197823	143197924
ENSE00001190937	143195716	143195845
ENSE00001219762	143187826	143187961
ENSE00001219780	143184917	143186132
ENSE00003500958	143213581	143214943
ENSE00003584311	143206033	143206226
ENSE00003592026	143209564	143209657
ENSE00003593035	143212318	143212424
ENSE00003630362	143220295	143223874

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 96.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.5967 / max 186.3070, expressed in 1798 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
49826	11.7926	1785
49825	4.8389	1523
49828	0.6871	432
49827	0.2781	126

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vastus lateralis	UBERON:0001379	96.30	gold quality
epithelial cell of pancreas	CL:0000083	96.08	gold quality
amniotic fluid	UBERON:0000173	95.78	gold quality
biceps brachii	UBERON:0001507	95.63	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	95.31	gold quality
quadriceps femoris	UBERON:0001377	95.27	gold quality
deltoid	UBERON:0001476	95.18	gold quality
palpebral conjunctiva	UBERON:0001812	94.74	gold quality
skeletal muscle tissue	UBERON:0001134	94.06	gold quality
tibialis anterior	UBERON:0001385	93.87	gold quality
eye	UBERON:0000970	93.77	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	93.64	gold quality
muscle tissue	UBERON:0002385	92.16	gold quality
germinal epithelium of ovary	UBERON:0001304	91.73	gold quality
jejunal mucosa	UBERON:0000399	91.68	gold quality
skeletal muscle organ	UBERON:0014892	91.27	gold quality
corpus epididymis	UBERON:0004359	91.09	gold quality
esophagus squamous epithelium	UBERON:0006920	91.08	gold quality
pigmented layer of retina	UBERON:0001782	90.87	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.62	gold quality
gastrocnemius	UBERON:0001388	90.53	gold quality
mucosa of sigmoid colon	UBERON:0004993	90.30	gold quality
muscle of leg	UBERON:0001383	90.29	gold quality
colonic mucosa	UBERON:0000317	89.96	gold quality
visceral pleura	UBERON:0002401	89.64	gold quality
jejunum	UBERON:0002115	89.52	gold quality
gingival epithelium	UBERON:0001949	89.26	gold quality
left ventricle myocardium	UBERON:0006566	89.12	gold quality
cardiac muscle of right atrium	UBERON:0003379	89.04	silver quality
pancreatic ductal cell	CL:0002079	88.89	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	8.40

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

269 targeting USP38, 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-340-5P	100.00	72.50	4437
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-5696	99.98	72.36	4487
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-568	99.98	69.86	2084
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642

Literature-anchored findings (GeneRIF, showing 9)

• Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies. (PMID:31723061)
• The Deubiquitinase USP38 Promotes NHEJ Repair through Regulation of HDAC1 Activity and Regulates Cancer Cell Response to Genotoxic Insults. (PMID:31874856)
• The deubiquitinase USP38 promotes cell proliferation through stabilizing c-Myc. (PMID:34102342)
• USP38 might be a new therapeutic target for glioma via regulation of cancer cell metastasis. (PMID:35114776)
• Reciprocal regulation of IL-33 receptor-mediated inflammatory response and pulmonary fibrosis by TRAF6 and USP38. (PMID:35238669)
• USP38 inhibits colorectal cancer cell proliferation and migration via downregulating HMX3 ubiquitylation. (PMID:36204976)
• USP38 regulates inflammatory cardiac remodeling after myocardial infarction. (PMID:37903290)
• USP38 promotes deubiquitination of K11-linked polyubiquitination of HIF1alpha at Lys769 to enhance hypoxia signaling. (PMID:38072059)
• Ubiquitin specific peptidase 38 epigenetically regulates KLF transcription factor 5 to augment malignant progression of lung adenocarcinoma. (PMID:38409551)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	usp38	ENSDARG00000075798
mus_musculus	Usp38	ENSMUSG00000038250
rattus_norvegicus	Usp38	ENSRNOG00000026880

Paralogs (71): USP2 (ENSG00000036672), USP28 (ENSG00000048028), USP36 (ENSG00000055483), USP13 (ENSG00000058056), USP33 (ENSG00000077254), USP40 (ENSG00000085982), 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), USP50 (ENSG00000170236), USP47 (ENSG00000170242), USP32 (ENSG00000170832)

Protein

Protein identifiers

Ubiquitin carboxyl-terminal hydrolase 38 — Q8NB14 (reviewed: Q8NB14)

Alternative names: Deubiquitinating enzyme 38, HP43.8KD, Ubiquitin thioesterase 38, Ubiquitin-specific-processing protease 38

All UniProt accessions (5): Q8NB14, A0A804HIS3, A0A804HIT0, A0A804HL80, H0Y9H5

UniProt curated annotations — full annotation on UniProt →

Function. Deubiquitinating enzyme that plays a role in various cellular processes, including DNA repair, cell cycle regulation, and immune response. Plays a role in the inhibition of type I interferon signaling by mediating the ‘Lys-33’ to ‘Lys-48’ ubiquitination transition of TBK1 leading to its degradation. Cleaves the ubiquitin chain from the histone demethylase LSD1/KDM1A and prevents it from degradation by the 26S proteasome, thus maintaining LSD1 protein level in cells. Plays a role in the DNA damage response by regulating the deacetylase activity of HDAC1. Mechanistically, removes the ‘Lys-63’-linked ubiquitin chain promoting the deacetylase activity of HDAC1 in response to DNA damage. Also acts as a specific deubiquitinase of histone deacetylase 3/HDAC3 and cleaves its ‘Lys-63’-linked ubiquitin chains to lower its histone deacetylase activity. Regulates MYC levels and cell proliferation via antagonizing ubiquitin E3 ligase FBXW7 thereby preventing MYC ‘Lys-48’-linked ubiquitination and degradation. Participates in antiviral response by removing both ‘Lys-48’-linked and ‘Lys-63’-linked polyubiquitination of Zika virus envelope protein E. Constitutively associated with IL-33R/IL1RL1, deconjugates its ‘Lys-27’-linked polyubiquitination resulting in its autophagic degradation.

Subunit / interactions. Interacts with isoform 1 of FBXW7; this interaction prevents FBXW7-mediated degradation of MYC.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Highly expressed in skeletal muscle. Expressed in adrenal gland.

Similarity. Belongs to the peptidase C19 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NB14-1	1	yes
Q8NB14-2	2

RefSeq proteins (4): NP_001277254, NP_001277255, NP_001397777, NP_115946* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001394	Peptidase_C19_UCH	Domain
IPR018200	USP_CS	Conserved_site
IPR028889	USP	Domain
IPR033840	USP38	Domain
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily
IPR049407	Usp38-like_N	Domain
IPR050164	Peptidase_C19	Family

Pfam: PF00443, PF21246

UniProt features (39 total): helix 28, mutagenesis site 3, active site 2, sequence conflict 2, chain 1, domain 1, turn 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4RXX	X-RAY DIFFRACTION	2.06

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NB14-F1	77.16	0.57

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): 454 (nucleophile); 857 (proton acceptor)

Mutagenesis-validated functional residues (3):

Position	Phenotype
454	loss of binding to lsd1/kdm1a.
454	loss of deubiquitinating activity; when associated with a-857.
857	loss of deubiquitinating activity; when associated with a-454.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 229 (showing top): HORIUCHI_WTAP_TARGETS_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GTGCCTT_MIR506, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS

GO Biological Process (11): ubiquitin-dependent protein catabolic process (GO:0006511), regulation of protein stability (GO:0031647), negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435), negative regulation of innate immune response (GO:0045824), protein K33-linked deubiquitination (GO:1990168), G1/S transition of mitotic cell cycle (GO:0000082), proteolysis (GO:0006508), protein deubiquitination (GO:0016579), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein K48-linked ubiquitination (GO:0070936), antiviral innate immune response (GO:0140374)

GO Molecular Function (5): cysteine-type deubiquitinase activity (GO:0004843), protein binding (GO:0005515), 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
innate immune response	2
cellular anatomical structure	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
regulation of biological quality	1
regulation of proteasomal ubiquitin-dependent protein catabolic process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
negative regulation of proteasomal protein catabolic process	1
negative regulation of ubiquitin-dependent protein catabolic process	1
negative regulation of response to biotic stimulus	1
negative regulation of defense response	1
negative regulation of response to external stimulus	1
regulation of innate immune response	1
negative regulation of immune response	1
protein deubiquitination	1
mitotic cell cycle	1
mitotic cell cycle phase transition	1
cell cycle G1/S phase transition	1
protein metabolic process	1
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
protein polyubiquitination	1
defense response to virus	1
cysteine-type peptidase activity	1
deubiquitinase activity	1
binding	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

1316 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
USP38	DTX4	Q9Y2E6	692
USP38	TBK1	Q9UHD2	570
USP38	USP39	Q53GS9	563
USP38	USP13	Q92995	555
USP38	PAN2	Q504Q3	545
USP38	FREM3	P0C091	542
USP38	TANK	Q92844	527
USP38	UCHL3	P15374	510
USP38	USP5	P45974	494
USP38	USP26	Q9BXU7	488
USP38	USP49	Q70CQ1	487
USP38	USP54	Q70EL1	486
USP38	INPP4B	O15327	485
USP38	MYSM1	Q5VVJ2	461
USP38	JOSD1	Q15040	460

IntAct

22 interactions, top by confidence:

A	B	Type	Score
USP38	PRKCA	psi-mi:“MI:0915”(physical association)	0.560
USP38	YWHAG	psi-mi:“MI:0915”(physical association)	0.560
USP38	SETDB1	psi-mi:“MI:0915”(physical association)	0.560
USP38	KAT5	psi-mi:“MI:0915”(physical association)	0.560
LMO3	USP38	psi-mi:“MI:0915”(physical association)	0.560
USP38	AHSG	psi-mi:“MI:0914”(association)	0.530
USP38	TRIM16	psi-mi:“MI:0915”(physical association)	0.400
USP38		psi-mi:“MI:0914”(association)	0.350
SEM1	PSMD9	psi-mi:“MI:0914”(association)	0.350
VAV2	USP38	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (48): HIST1H1D (Affinity Capture-MS), ADAR (Affinity Capture-MS), AHSG (Affinity Capture-MS), GNB5 (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), AHSG (Affinity Capture-MS), ADAR (Affinity Capture-MS), USP38 (Reconstituted Complex), USP38 (Affinity Capture-RNA), USP38 (Affinity Capture-MS), USP38 (Affinity Capture-Western), USP38 (PCA), LDHA (Affinity Capture-MS), RPS27A (Affinity Capture-MS), KRT6B (Affinity Capture-MS)

ESM2 similar proteins: A0JM59, A2BGT0, A5PJS6, A5PMR2, A5PN09, A6QNM7, A7Z056, B1AY15, B1WBD7, D2HBJ8, E1C213, E7F6T8, E9QG68, O88974, P52479, Q0V9G5, Q14694, Q15047, Q1RMU2, Q28CN3, Q2KJ09, Q2NL57, Q3KR59, Q5R5Z6, Q5RED8, Q5REG5, Q5XGZ2, Q5ZJN4, Q66H62, Q6NTR6, Q6P549, Q70CQ3, Q70CQ4, Q70EK9, Q7ZUM8, Q7ZXR7, Q80TQ2, Q8BW70, Q8C0R0, Q8C2S0

Diamond homologs: A0A0R4IB93, A0JM59, A1CIL1, A1CW53, A2XDG4, A3AF13, A5PN09, A6QNM7, A7Z056, B1WBD7, B2GUZ1, B8NSV5, D3ZJ96, F6Z5C0, O22207, O60079, O94966, Q0CT11, Q0E2F9, Q0VA64, Q13107, Q2HJE4, Q2UUG8, Q3UJD6, Q3V0C5, Q4VSI4, Q5I043, Q5R5Z6, Q5RCD3, Q5ZM45, Q60MK8, Q6A4J8, Q6J1Y9, Q6PAW2, Q6U7I1, Q6ZQ93, Q70CQ2, Q76LT8, Q7JKC3, Q84WU2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	125
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1371 predictions. Top by Δscore:

Variant	Effect	Δscore
4:143186133:G:GC	donor_loss	1.0000
4:143187812:A:AG	acceptor_gain	1.0000
4:143187812:AATT:A	acceptor_gain	1.0000
4:143187813:A:G	acceptor_gain	1.0000
4:143187813:ATT:A	acceptor_gain	1.0000
4:143187815:T:TA	acceptor_gain	1.0000
4:143195708:A:AG	acceptor_gain	1.0000
4:143195709:A:G	acceptor_gain	1.0000
4:143195712:TCAG:T	acceptor_loss	1.0000
4:143195714:A:AG	acceptor_gain	1.0000
4:143195714:AGA:A	acceptor_loss	1.0000
4:143195714:AGAAT:A	acceptor_gain	1.0000
4:143195715:G:GA	acceptor_gain	1.0000
4:143195715:GA:G	acceptor_gain	1.0000
4:143195715:GAA:G	acceptor_gain	1.0000
4:143195715:GAAT:G	acceptor_gain	1.0000
4:143195715:GAATG:G	acceptor_gain	1.0000
4:143195841:AACTG:A	donor_gain	1.0000
4:143195842:ACTG:A	donor_gain	1.0000
4:143195843:CTG:C	donor_gain	1.0000
4:143195843:CTGG:C	donor_loss	1.0000
4:143195846:G:C	donor_loss	1.0000
4:143195846:G:GG	donor_gain	1.0000
4:143195847:T:A	donor_loss	1.0000
4:143197817:TTGAA:T	acceptor_loss	1.0000
4:143197818:TGAAG:T	acceptor_loss	1.0000
4:143197819:GAA:G	acceptor_loss	1.0000
4:143197820:AAGGT:A	acceptor_loss	1.0000
4:143197821:A:T	acceptor_loss	1.0000
4:143197923:TGGT:T	donor_loss	1.0000

AlphaMissense

6816 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:143195726:T:A	W277R	1.000
4:143195726:T:C	W277R	1.000
4:143195735:T:A	W280R	1.000
4:143195735:T:C	W280R	1.000
4:143195762:T:A	W289R	1.000
4:143195762:T:C	W289R	1.000
4:143206159:G:C	G446R	1.000
4:143206160:G:A	G446D	1.000
4:143206163:T:A	L447H	1.000
4:143206163:T:C	L447P	1.000
4:143206170:C:A	N449K	1.000
4:143206170:C:G	N449K	1.000
4:143206183:T:C	C454R	1.000
4:143206194:C:A	N457K	1.000
4:143206194:C:G	N457K	1.000
4:143206195:A:C	S458R	1.000
4:143206197:T:A	S458R	1.000
4:143206197:T:G	S458R	1.000
4:143209644:T:C	L495P	1.000
4:143212366:T:A	W516R	1.000
4:143212366:T:C	W516R	1.000
4:143212390:G:C	D524H	1.000
4:143212391:A:C	D524A	1.000
4:143212391:A:T	D524V	1.000
4:143212406:T:C	L529P	1.000
4:143212415:T:C	L532P	1.000
4:143213823:T:C	L616P	1.000
4:143214258:T:C	L761P	1.000
4:143214264:T:C	L763P	1.000
4:143214276:G:C	R767T	1.000

dbSNP variants (sampled 300 via entrez): RS1000018269 (4:143188033 A>G), RS10000911 (4:143215040 T>A,G), RS10001113 (4:143215252 T>A,C,G), RS1000148899 (4:143184691 C>G,T), RS1000270738 (4:143213703 C>G,T), RS1000352787 (4:143190062 G>A,C), RS10003936 (4:143208716 G>A), RS1000452919 (4:143188397 A>G), RS1000456959 (4:143221231 T>C), RS1000510897 (4:143193422 C>G,T), RS1000542209 (4:143193720 A>T), RS1000578612 (4:143185370 C>A,T), RS1000660526 (4:143190406 G>A,T), RS1000669324 (4:143199961 C>A,T), RS1000704980 (4:143213935 T>G)

Disease associations

OMIM: gene MIM:618322 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST005929_7	Severity of nausea and vomiting of pregnancy	1.000000e-08
GCST007094_128	Diastolic blood pressure	1.000000e-07
GCST007099_48	Systolic blood pressure	2.000000e-09
GCST007323_83	Risk-taking tendency (4-domain principal component model)	6.000000e-10
GCST007324_25	Adventurousness	2.000000e-09
GCST007928_64	Medication use (diuretics)	8.000000e-11
GCST007929_63	Medication use (calcium channel blockers)	4.000000e-08
GCST007930_41	Medication use (agents acting on the renin-angiotensin system)	2.000000e-11
GCST008747_47	Estimated glomerular filtration rate	1.000000e-08
GCST008971_31	Urate levels	1.000000e-12
GCST008972_12	Urate levels	1.000000e-15
GCST010725_4	Malaria	4.000000e-10
GCST010725_84	Malaria	7.000000e-11
GCST010725_89	Malaria	7.000000e-11

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0009265	nausea and vomiting of pregnancy severity measurement
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0008579	risk-taking behaviour
EFO:0009928	Diuretic use measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, affects cotreatment, increases abundance, increases expression	3
Benzo(a)pyrene	decreases methylation, increases mutagenesis	2
methylmercuric chloride	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
cobaltous chloride	increases expression	1
zinc chromate	increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Formaldehyde	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Urethane	increases expression	1
Valproic Acid	decreases methylation, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1
Particulate Matter	increases abundance, decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TW94	HAP1 USP38 (-) 1	Cancer cell line	Male
CVCL_TW95	HAP1 USP38 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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