USP24

gene
On this page

Also known as KIAA1057

Summary

USP24 (ubiquitin specific peptidase 24, HGNC:12623) is a protein-coding gene on chromosome 1p32.3, encoding Ubiquitin carboxyl-terminal hydrolase 24 (Q9UPU5). Ubiquitin-specific protease that regulates cell survival in various contexts through modulating the protein stability of some of its substrates including DDB2, MCL1 or TP53.

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).

Source: NCBI Gene 23358 — RefSeq curated summary.

At a glance

  • GWAS associations: 7
  • Clinical variants (ClinVar): 291 total — 1 likely-pathogenic
  • Druggable target: yes
  • MANE Select transcript: NM_015306

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:12623
Approved symbolUSP24
Nameubiquitin specific peptidase 24
Location1p32.3
Locus typegene with protein product
StatusApproved
AliasesKIAA1057
Ensembl geneENSG00000162402
Ensembl biotypeprotein_coding
OMIM610569
Entrez23358

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000294383, ENST00000472566, ENST00000480962, ENST00000482197, ENST00000484447, ENST00000512504, ENST00000634589, ENST00000927917, ENST00000927918

RefSeq mRNA: 1 — MANE Select: NM_015306 NM_015306

CCDS: CCDS44154

Canonical transcript exons

ENST00000294383 — 68 exons

ExonStartEnd
ENSE000010648195507723555077300
ENSE000010648285509393755094087
ENSE000011394395507545755075523
ENSE000011394575507853855078651
ENSE000011394655507953855079659
ENSE000011394765508132255081424
ENSE000011395045508594255086038
ENSE000011395105508962755089740
ENSE000011395165509202355092126
ENSE000011395225509282155092916
ENSE000011395355509525555095396
ENSE000011395445509649855096622
ENSE000011395555509695255097172
ENSE000011395655509759855097717
ENSE000011395725509794355098084
ENSE000011395805509847655098558
ENSE000011395855509977155099869
ENSE000011395905510083955100964
ENSE000011395995510158455101703
ENSE000011566745510387655104020
ENSE000013708285521479055215364
ENSE000013829485517796755178132
ENSE000014154425510614655106263
ENSE000014339505510723955107430
ENSE000014344625511018555110246
ENSE000014547645512059655120756
ENSE000014547655512143655121506
ENSE000014547665512344755123602
ENSE000014547675512446955124628
ENSE000014547685512532055125548
ENSE000014547695512566355125758
ENSE000014547705512947755129574
ENSE000014547715513254555132700
ENSE000014547725513407055134163
ENSE000014547735513432855134413
ENSE000014547745513751555137688
ENSE000014547755513780655137904
ENSE000014547765513860855138718
ENSE000014547775513894455139010
ENSE000014547785514161655141731
ENSE000014547795514274255142795
ENSE000014547805514297955143119
ENSE000014547815514412755144203
ENSE000014547865515387055153917
ENSE000014547885515437155154466
ENSE000016011735516219955162264
ENSE000016131195517637655176443
ENSE000016234895515961155159685
ENSE000016298565514846355148570
ENSE000016397615514692955147060
ENSE000016598755517237755172520
ENSE000016875165515887855159036
ENSE000017016985515411955154280
ENSE000017063815517155655171678
ENSE000017280655514764955147798
ENSE000017443605515725655157370
ENSE000017473355516588555165950
ENSE000017566175516656855166603
ENSE000017808135515694855157051
ENSE000018035925514599855146109
ENSE000018057185515467155154778
ENSE000018476415506635955069107
ENSE000034810755507278655072861
ENSE000035299985507181455071924
ENSE000035713095508327255083364
ENSE000035753735507231755072403
ENSE000036482715508377255083888
ENSE000036811275507382855073906

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 95.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.1843 / max 265.8441, expressed in 1779 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1249112.34301774
124920.8413383

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
sural nerveUBERON:001548895.80gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451194.96gold quality
biceps brachiiUBERON:000150794.84gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450294.71gold quality
gastrocnemiusUBERON:000138894.66gold quality
muscle of legUBERON:000138394.37gold quality
hindlimb stylopod muscleUBERON:000425294.03gold quality
subcutaneous adipose tissueUBERON:000219093.92gold quality
cerebellar hemisphereUBERON:000224593.82gold quality
right hemisphere of cerebellumUBERON:001489093.77gold quality
calcaneal tendonUBERON:000370193.76gold quality
cerebellar cortexUBERON:000212993.72gold quality
colonic epitheliumUBERON:000039793.54gold quality
cerebellumUBERON:000203793.26gold quality
tibial nerveUBERON:000132393.05gold quality
muscle organUBERON:000163092.94gold quality
skeletal muscle organUBERON:001489292.94gold quality
skin of legUBERON:000151192.68gold quality
skin of abdomenUBERON:000141692.46gold quality
granulocyteCL:000009492.42gold quality
mucosa of stomachUBERON:000119992.33gold quality
ventricular zoneUBERON:000305392.17gold quality
adipose tissueUBERON:000101392.14gold quality
right lungUBERON:000216792.03gold quality
adrenal tissueUBERON:001830392.00gold quality
connective tissueUBERON:000238491.95gold quality
left ovaryUBERON:000211991.54gold quality
zone of skinUBERON:000001491.08gold quality
body of uterusUBERON:000985390.92gold quality
right ovaryUBERON:000211890.78gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-CURD-119yes50.98
E-ANND-3yes10.14

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB

miRNA regulators (miRDB)

204 targeting USP24, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-340-5P100.0072.504437
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-3163100.0077.238605
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-3064-3P100.0070.091254
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-428299.9975.366408
HSA-MIR-450099.9972.722367
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-34A-5P99.9971.211784
HSA-MIR-449A99.9971.051776
HSA-MIR-1213699.9872.815713
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7F-5P99.9872.561784
HSA-LET-7G-5P99.9872.371784
HSA-LET-7I-5P99.9872.371788
HSA-MIR-98-5P99.9872.331787
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-499A-5P99.9870.791323
HSA-MIR-103A-3P99.9869.141595
HSA-MIR-10799.9869.141595
HSA-MIR-548AN99.9770.912817

Literature-anchored findings (GeneRIF, showing 16)

  • Data suggest that genetic variants in USP24 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)
  • The present study is the first to report a lack of association between SNPs of USP24 and parkinson disease in Han Chinese patients. Other (PMID:22923019)
  • The knockdown of USP24 in two human cell lines decreased the steady-state levels of DDB2, indicating that USP24-mediated DDB2 deubiquitination prevents DDB2 degradation. (PMID:23159851)
  • These results suggested that USP24 expression is tightly regulated at its transcription level and NFkappaB plays an important role in this process. (PMID:24286619)
  • USP24 deubiquitinase regulates the DNA damage response by directly targeting the p53 tumor suppressor. (PMID:25578727)
  • the novel compound EOAI3402143 dose-dependently inhibited Usp9x and Usp24 activity, increased tumor cell apoptosis, and fully blocked or regressed myeloma tumors in mice. (PMID:25814533)
  • Data show that ubiquitin-specific peptidase 24 (USP24) is highly expressed in cell lines with enhanced malignancy and in late-stage lung cancer clinical samples. (PMID:26568301)
  • USP24 level was decreased during the early stage of cancer and the mitotic stage of the cell cycle to regulate its substrates p300, Bax, E2F4 and securin, resulting in decreased cell apoptosis and increased cell cycle progression and, thus, cancer formation. (PMID:27991932)
  • Data indicate that ubiquitin specific peptidase 24 (USP24) promotes Interleukin-6 (IL-6) expression, which might be beneficial for cancer therapy. (PMID:30266897)
  • The PARK10 gene USP24 is a negative regulator of autophagy and ULK1 protein stability. (PMID:30957634)
  • USP24 stabilizes bromodomain containing proteins to promote lung cancer malignancy. (PMID:33257797)
  • USP24 Is a Cancer-Associated Ubiquitin Hydrolase, Novel Tumor Suppressor, and Chromosome Instability Gene Deleted in Neuroblastoma. (PMID:33355202)
  • USP24-GSDMB complex promotes bladder cancer proliferation via activation of the STAT3 pathway. (PMID:34326684)
  • MiR-21-5p promotes sorafenib resistance and hepatocellular carcinoma progression by regulating SIRT7 ubiquitination through USP24. (PMID:37187452)
  • USP24 promotes hepatocellular carcinoma tumorigenesis through deubiquitinating and stabilizing TRAF2. (PMID:39127151)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusUsp24ENSMUSG00000028514
rattus_norvegicusUsp24ENSRNOG00000005802

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), USP1 (ENSG00000162607), USP49 (ENSG00000164663), USP38 (ENSG00000170185), USP50 (ENSG00000170236), USP47 (ENSG00000170242), USP32 (ENSG00000170832)

Protein

Protein identifiers

Ubiquitin carboxyl-terminal hydrolase 24Q9UPU5 (reviewed: Q9UPU5)

Alternative names: Deubiquitinating enzyme 24, Ubiquitin thioesterase 24, Ubiquitin-specific-processing protease 24

All UniProt accessions (3): A0A0U1RQI9, A0A0U1RRH2, Q9UPU5

UniProt curated annotations — full annotation on UniProt →

Function. Ubiquitin-specific protease that regulates cell survival in various contexts through modulating the protein stability of some of its substrates including DDB2, MCL1 or TP53. Plays a positive role on ferritinophagy where ferritin is degraded in lysosomes and releases free iron.

Subunit / interactions. (Microbial infection) Interacts with human cytomegalovirus protein UL38.

Similarity. Belongs to the peptidase C19 family.

RefSeq proteins (1): NP_056121* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001394Peptidase_C19_UCHDomain
IPR009060UBA-like_sfHomologous_superfamily
IPR015940UBADomain
IPR016024ARM-type_foldHomologous_superfamily
IPR018200USP_CSConserved_site
IPR028889USPDomain
IPR029071Ubiquitin-like_domsfHomologous_superfamily
IPR033382USP24_UBADomain
IPR038765Papain-like_cys_pep_sfHomologous_superfamily
IPR047061UBP24_UblDomain
IPR050164Peptidase_C19Family
IPR055176UBP24/USP9X/USP9Y_UBLDomain
IPR056850ARM_UBP34_24_USP9X_YDomain

Pfam: PF00443, PF22900, PF25010

UniProt features (36 total): modified residue 11, region of interest 6, compositionally biased region 5, sequence conflict 5, sequence variant 4, domain 2, active site 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9UPU5-F176.150.19

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): 1698 (nucleophile); 1970 (proton acceptor)

Post-translational modifications (11): 63, 88, 942, 1141, 1285, 1943, 2047, 2077, 2561, 2565, 2604

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-5689880Ub-specific processing proteases

MSigDB gene sets: 198 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_PROTEOLYSIS, WILSON_PROTEASES_AT_TUMOR_BONE_INTERFACE_UP, DAZARD_UV_RESPONSE_CLUSTER_G6, GOMF_PEPTIDASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_PEPTIDASE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MORF_CDC16

GO Biological Process (3): proteolysis (GO:0006508), protein deubiquitination (GO:0016579), regulation of protein stability (GO:0031647)

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), nucleoplasm (GO:0005654), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Deubiquitination1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
protein metabolic process1
cysteine-type deubiquitinase activity1
protein modification by small protein removal1
regulation of biological quality1
cysteine-type peptidase activity1
deubiquitinase activity1
binding1
hydrolase activity1
catalytic activity, acting on a protein1
peptidase activity1
catalytic activity1
intracellular membrane-bounded organelle1
nuclear lumen1
cytoplasm1

Protein interactions and networks

STRING

1234 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
USP24CDCP2Q5VXM1890
USP24DDB2Q92466820
USP24HIVEP3Q5T1R4799
USP24ELAVL4P26378790
USP24EIF2B3Q9NR50773
USP24USP13Q92995667
USP24ZUP1Q96AP4590
USP24USP5P45974587
USP24USP14P54578545
USP24OTUB1Q96FW1481
USP24BSNDQ8WZ55473
USP24OTUD5Q96G74462
USP24DDB1Q16531449
USP24USP1O94782446
USP24UCHL3P15374428

IntAct

115 interactions, top by confidence:

ABTypeScore
CNOT2CNOT1psi-mi:“MI:0914”(association)0.740
HIF1ANGMDSpsi-mi:“MI:0914”(association)0.640
USP24psi-mi:“MI:0915”(physical association)0.560
HTTUSP24psi-mi:“MI:0915”(physical association)0.560
NCS1NMT2psi-mi:“MI:0914”(association)0.530
SUV39H1MAGEC1psi-mi:“MI:0914”(association)0.530

BioGRID (153): USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Co-fractionation), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), TP53 (Biochemical Activity), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS)

ESM2 similar proteins: A0JNG7, A0JPF5, A0JPG1, A2VE70, B0V207, B1AY13, B4F766, F1QFR9, F1R2X6, O17482, O43156, P49021, P50851, Q05DH4, Q0P4Q0, Q15021, Q4S6U8, Q505K2, Q5PNP1, Q5RAW5, Q5SP90, Q5SSW2, Q5W0V3, Q5ZLW3, Q6DCP6, Q6IN85, Q6INN7, Q6NRP2, Q6P2K6, Q7RTS9, Q80TR8, Q80YR2, Q86V87, Q8CDM8, Q8CHY3, Q8IV36, Q8IY22, Q8K2Z4, Q8NFP9, Q8R1F6

Diamond homologs: A0A0R4IB93, A0JM59, A5PMR2, A5PN09, A6NNY8, A6QNM7, A7Z056, B1AY13, B1WBD7, D2HBJ8, D6RBM5, E1C213, E7F6T8, E9Q9U0, F6Z5C0, F8VPU6, F8VPZ3, M9PD06, O00507, O22207, O60079, O74442, O94269, O94966, O96612, P0C7I0, P0C8Z3, P0CAQ1, P35125, P39538, P40453, P51784, P53874, P55824, P70398, Q01988, Q09738, Q0V9G5, Q28CN3, Q2HJE4

SIGNOR signaling

10 interactions.

AEffectBMechanism
USP24up-regulatesDDB2deubiquitination
CDK1“down-regulates quantity by destabilization”USP24phosphorylation
USP24“up-regulates quantity by stabilization”BAXdeubiquitination
USP24“up-regulates quantity by stabilization”EP300deubiquitination
CyclinB/CDK1“down-regulates quantity by destabilization”USP24phosphorylation
ATM“up-regulates activity”USP24phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance218
Likely benign5
Benign5

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
599595NM_015306.3(USP24):c.7448-7C>TLikely pathogenic

SpliceAI

9058 predictions. Top by Δscore:

VariantEffectΔscore
1:55069103:GAACC:Gacceptor_gain1.0000
1:55069104:AACC:Aacceptor_gain1.0000
1:55069105:ACC:Aacceptor_gain1.0000
1:55069106:CC:Cacceptor_gain1.0000
1:55069106:CCC:Cacceptor_gain1.0000
1:55069107:CC:Cacceptor_gain1.0000
1:55069108:C:CCacceptor_gain1.0000
1:55069108:C:Tacceptor_gain1.0000
1:55071808:TTATA:Tdonor_loss1.0000
1:55071809:TATA:Tdonor_loss1.0000
1:55071810:ATAC:Adonor_loss1.0000
1:55071812:ACCTG:Adonor_loss1.0000
1:55071813:CCTG:Cdonor_gain1.0000
1:55071813:CCTGC:Cdonor_loss1.0000
1:55071923:TCCTG:Tacceptor_loss1.0000
1:55071925:CTGC:Cacceptor_loss1.0000
1:55071926:T:Aacceptor_loss1.0000
1:55072311:TCTCA:Tdonor_loss1.0000
1:55072312:CTCA:Cdonor_loss1.0000
1:55072313:TCAC:Tdonor_loss1.0000
1:55072314:CAC:Cdonor_loss1.0000
1:55072315:A:Cdonor_loss1.0000
1:55072316:C:Adonor_loss1.0000
1:55072401:CAT:Cacceptor_gain1.0000
1:55072403:TC:Tacceptor_loss1.0000
1:55072404:C:CCacceptor_gain1.0000
1:55072404:CT:Cacceptor_loss1.0000
1:55072781:GTTA:Gdonor_loss1.0000
1:55072782:TTA:Tdonor_loss1.0000
1:55072783:TA:Tdonor_loss1.0000

AlphaMissense

17204 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:55071903:C:GA2571P1.000
1:55071908:G:TA2569D1.000
1:55071909:C:GA2569P1.000
1:55072321:G:TA2562D1.000
1:55072330:G:AT2559I1.000
1:55072338:A:CF2556L1.000
1:55072338:A:TF2556L1.000
1:55072339:A:CF2556C1.000
1:55072339:A:GF2556S1.000
1:55072340:A:GF2556L1.000
1:55072796:A:GL2531P1.000
1:55072800:A:GW2530R1.000
1:55072800:A:TW2530R1.000
1:55072818:A:GW2524R1.000
1:55072818:A:TW2524R1.000
1:55073851:T:AK2501N1.000
1:55073851:T:GK2501N1.000
1:55073853:T:CK2501E1.000
1:55073865:A:CY2497D1.000
1:55081415:A:GW2329R1.000
1:55081415:A:TW2329R1.000
1:55089724:A:GW2191R1.000
1:55089724:A:TW2191R1.000
1:55095343:A:CY2039D1.000
1:55095348:A:GL2037P1.000
1:55095348:A:TL2037H1.000
1:55095357:G:TA2034D1.000
1:55095364:A:GW2032R1.000
1:55095364:A:TW2032R1.000
1:55096530:C:TG2010E1.000

dbSNP variants (sampled 300 via entrez): RS1000016326 (1:55206996 A>C,G), RS1000021167 (1:55180421 A>T), RS1000049358 (1:55072294 C>G,T), RS1000071080 (1:55143885 CAG>C), RS1000104225 (1:55157662 G>A,T), RS1000143625 (1:55131233 T>A), RS1000146437 (1:55066074 C>A,T), RS1000167037 (1:55118086 T>G), RS1000190687 (1:55100032 C>T), RS1000200995 (1:55078481 C>A), RS1000220346 (1:55162782 G>A), RS1000247025 (1:55204160 T>C), RS1000260823 (1:55085059 G>T), RS1000292267 (1:55182297 C>T), RS1000433644 (1:55098968 T>C)

Disease associations

OMIM: gene MIM:610569 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

StudyTraitp-value
GCST001639_11Metabolite levels5.000000e-13
GCST002724_11Airway responsiveness in chronic obstructive pulmonary disease9.000000e-08
GCST002724_7Airway responsiveness in chronic obstructive pulmonary disease5.000000e-07
GCST004136_4Methadone dose in opioid dependence2.000000e-06
GCST008159_82Waist-to-hip ratio adjusted for BMI2.000000e-06
GCST011924_3LDL levels x fish oil supplementation interaction (2df)3.000000e-31
GCST011926_1Total cholesterol levels x fish oil supplementation interaction (2df)2.000000e-20

EFO canonical traits (7, from GWAS)

EFO IDTrait name
EFO:0004723coronary artery calcification
EFO:0006897airway responsiveness measurement
EFO:0007907methadone dose measurement
EFO:0007788BMI-adjusted waist-hip ratio
EFO:0004611low density lipoprotein cholesterol measurement
EFO:0600007fish oil supplement exposure measurement
EFO:0004574total cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5291599 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs17111584USP240.000

ChEMBL bioactivities

1 potent at pChembl≥5 of 3 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
5.60IC502500nMCHEMBL4287357

PubChem BioAssay actives

1 with measured affinity, of 9 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
(E)-2-cyano-3-(3,6-dichloro-2-pyridinyl)-N-[1-[4-(2-morpholin-4-ylethoxy)phenyl]butyl]prop-2-enamide1930830: Inhibition of USP24 (unknown origin)ic502.5000uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
bisphenol Aaffects cotreatment, affects expression, increases abundance, decreases expression, decreases methylation (+1 more)5
Valproic Acidaffects expression, decreases expression3
bisphenol Fincreases expression, affects cotreatment, decreases expression2
trichostatin Aaffects expression, increases expression2
sodium arseniteaffects cotreatment, increases abundance, decreases expression2
Arsenicincreases ubiquitination, affects cotreatment, decreases expression, increases abundance2
Cisplatindecreases expression2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression2
aristolochic acid Idecreases expression1
FR900359affects phosphorylation1
ginger extractaffects cotreatment, affects expression, increases abundance1
2,4,6-tribromophenoldecreases expression1
triphenyl phosphateaffects expression1
decabromobiphenyl etherdecreases expression1
butyraldehydedecreases expression1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
potassium chromate(VI)affects cotreatment, decreases expression1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediaminedecreases expression1
beta-methylcholineaffects expression1
epigallocatechin gallateaffects cotreatment, decreases expression1
CGP 52608affects binding, increases reaction1
bisphenol Bincreases expression1
2,2’,4,4’-tetrabromodiphenyl etherdecreases expression1
hexabrominated diphenyl ether 153decreases expression1
bisphenol Sincreases expression1
jinfukangdecreases expression1
bisphenol AFincreases expression1
Irinotecandecreases expression1
Resveratrolaffects cotreatment, increases expression1
Sunitinibincreases expression1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5234106BindingInhibition of USP24 (unknown origin)Recent advances in the development of ubiquitin-specific-processing protease 7 (USP7) inhibitors. — Eur J Med Chem

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

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

CellosaurusNameCategorySex
CVCL_B3L0Abcam HEK293T USP24 KOTransformed cell lineFemale
CVCL_TW78HAP1 USP24 (-)Cancer cell lineMale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.