USP32
gene geneOn this page
Also known as NY-REN-60USP10
Summary
USP32 (ubiquitin specific peptidase 32, HGNC:19143) is a protein-coding gene on chromosome 17q23.3, encoding Ubiquitin carboxyl-terminal hydrolase 32 (Q8NFA0). Deubiquitinase that can remove conjugated ubiquitin from target proteins, such as RAB7A and LAMTOR1.
Enables cysteine-type deubiquitinase activity. Involved in positive regulation of TORC1 signaling. Located in cytosol. Is active in Golgi apparatus.
Source: NCBI Gene 84669 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 186 total
- Druggable target: yes
- MANE Select transcript:
NM_032582
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19143 |
| Approved symbol | USP32 |
| Name | ubiquitin specific peptidase 32 |
| Location | 17q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NY-REN-60, USP10 |
| Ensembl gene | ENSG00000170832 |
| Ensembl biotype | protein_coding |
| OMIM | 607740 |
| Entrez | 84669 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 10 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000300896, ENST00000393003, ENST00000585720, ENST00000586238, ENST00000586881, ENST00000587651, ENST00000588898, ENST00000589335, ENST00000589552, ENST00000589761, ENST00000590133, ENST00000590297, ENST00000591768, ENST00000592339, ENST00000593071, ENST00000923223
RefSeq mRNA: 1 — MANE Select: NM_032582
NM_032582
CCDS: CCDS32697
Canonical transcript exons
ENST00000300896 — 34 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001112928 | 60288523 | 60288682 |
| ENSE00001112933 | 60271350 | 60271481 |
| ENSE00001112935 | 60265976 | 60266091 |
| ENSE00001112936 | 60269450 | 60269557 |
| ENSE00001112938 | 60265412 | 60265474 |
| ENSE00001112943 | 60181324 | 60181748 |
| ENSE00001206983 | 60209370 | 60209543 |
| ENSE00001231039 | 60252381 | 60252442 |
| ENSE00001231200 | 60226039 | 60226231 |
| ENSE00001305865 | 60236138 | 60236240 |
| ENSE00002235197 | 60214620 | 60214774 |
| ENSE00002260262 | 60219670 | 60219787 |
| ENSE00002330307 | 60205447 | 60205658 |
| ENSE00002349779 | 60192844 | 60192930 |
| ENSE00002355844 | 60208654 | 60208828 |
| ENSE00002370017 | 60208059 | 60208210 |
| ENSE00002371009 | 60183165 | 60183453 |
| ENSE00002373920 | 60180545 | 60180637 |
| ENSE00002377614 | 60198260 | 60198444 |
| ENSE00002381312 | 60212024 | 60212098 |
| ENSE00002392397 | 60185460 | 60185651 |
| ENSE00002392724 | 60190563 | 60190683 |
| ENSE00002398386 | 60207021 | 60207132 |
| ENSE00002403606 | 60211376 | 60211514 |
| ENSE00002429622 | 60211013 | 60211118 |
| ENSE00002823319 | 60391882 | 60392133 |
| ENSE00002928473 | 60177327 | 60179428 |
| ENSE00003550114 | 60345481 | 60345608 |
| ENSE00003620914 | 60301599 | 60301704 |
| ENSE00003646149 | 60223411 | 60223586 |
| ENSE00003667080 | 60222409 | 60222549 |
| ENSE00003759855 | 60255175 | 60255258 |
| ENSE00003790606 | 60294683 | 60294801 |
| ENSE00003790954 | 60213581 | 60213662 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 96.94.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.0948 / max 275.5939, expressed in 1800 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 167375 | 9.0303 | 1706 |
| 167373 | 3.4854 | 1386 |
| 167372 | 2.5288 | 1198 |
| 167371 | 0.8777 | 437 |
| 167378 | 0.8535 | 310 |
| 167374 | 0.5667 | 271 |
| 167377 | 0.3188 | 161 |
| 167380 | 0.1932 | 75 |
| 167376 | 0.0936 | 25 |
| 167379 | 0.0778 | 26 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 96.94 | gold quality |
| right testis | UBERON:0004534 | 96.69 | gold quality |
| sural nerve | UBERON:0015488 | 95.57 | gold quality |
| testis | UBERON:0000473 | 94.90 | gold quality |
| sperm | CL:0000019 | 93.73 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.40 | gold quality |
| blood | UBERON:0000178 | 93.16 | gold quality |
| monocyte | CL:0000576 | 92.20 | gold quality |
| mononuclear cell | CL:0000842 | 92.00 | gold quality |
| male germ cell | CL:0000015 | 91.90 | gold quality |
| leukocyte | CL:0000738 | 91.73 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.62 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.08 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.36 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.12 | gold quality |
| muscle of leg | UBERON:0001383 | 89.79 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.15 | gold quality |
| tendon | UBERON:0000043 | 89.15 | gold quality |
| medial globus pallidus | UBERON:0002477 | 88.88 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.83 | gold quality |
| corpus callosum | UBERON:0002336 | 88.67 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 88.59 | silver quality |
| stromal cell of endometrium | CL:0002255 | 88.40 | gold quality |
| cortical plate | UBERON:0005343 | 88.11 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 87.85 | gold quality |
| bone marrow cell | CL:0002092 | 87.84 | gold quality |
| right lung | UBERON:0002167 | 87.39 | gold quality |
| bone marrow | UBERON:0002371 | 87.06 | gold quality |
| colonic epithelium | UBERON:0000397 | 87.00 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.89 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.16 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
218 targeting USP32, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| 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 |
Literature-anchored findings (GeneRIF, showing 11)
- USP32 is overexpressed in breast cancer. (PMID:20549504)
- USP32 silencing arrested cell cycle progression at G0/G1 phase via decreasing CDK4/Cyclin D1 complex and elevating p21. (PMID:28597490)
- the small GTPase Rab7-the logistical centerpiece of late endosome biology-is a substrate of USP32. (PMID:30926795)
- USP32 promotes tumorigenesis and chemoresistance in gastric carcinoma via upregulation of SMAD2. (PMID:32226309)
- Ubiquitin specific peptidase 32 acts as an oncogene in epithelial ovarian cancer by deubiquitylating farnesyl-diphosphate farnesyltransferase 1. (PMID:33744759)
- USP32 confers cancer cell resistance to YM155 via promoting ER-associated degradation of solute carrier protein SLC35F2. (PMID:34815782)
- Identification of ubiquitin-specific protease 32 as an oncogene in glioblastoma and the underlying mechanisms. (PMID:35440702)
- Deubiquitylation of Rab35 by USP32 promotes the transmission of imatinib resistance by enhancing exosome secretion in gastrointestinal stromal tumours. (PMID:36725886)
- Roles of the hsa_circ_0013880/USP32/Rap1b axis in the proliferation and apoptosis of acute myeloid leukemia cells. (PMID:36951484)
- High USP32 expression contributes to cancer progression and is correlated with immune infiltrates in hepatocellular carcinoma. (PMID:37957631)
- Furin Egress from the TGN is Regulated by Membrane-Associated RING-CH Finger (MARCHF) Proteins and Ubiquitin-Specific Protease 32 (USP32) via Nondegradable K33-Polyubiquitination. (PMID:39031635)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | usp32 | ENSDARG00000061895 |
| mus_musculus | Usp32 | ENSMUSG00000000804 |
| rattus_norvegicus | Usp32 | ENSRNOG00000027711 |
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), USP38 (ENSG00000170185), USP50 (ENSG00000170236), USP47 (ENSG00000170242)
Protein
Protein identifiers
Ubiquitin carboxyl-terminal hydrolase 32 — Q8NFA0 (reviewed: Q8NFA0)
Alternative names: Deubiquitinating enzyme 32, Renal carcinoma antigen NY-REN-60, Ubiquitin thioesterase 32, Ubiquitin-specific-processing protease 32
All UniProt accessions (9): Q8NFA0, K7EII4, K7EKK3, K7EKZ1, K7EL53, K7EN13, K7ENU6, K7EPL4, K7EQL6
UniProt curated annotations — full annotation on UniProt →
Function. Deubiquitinase that can remove conjugated ubiquitin from target proteins, such as RAB7A and LAMTOR1. Acts as a positive regulator of the mTORC1 signaling by mediating deubiquitination of LAMTOR1, thereby promoting the association between LAMTOR1 and the lysosomal V-ATPase complex and subsequent activation of the mTORC1 complex.
Subcellular location. Golgi apparatus membrane.
Similarity. Belongs to the peptidase C19 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NFA0-1 | 1 | yes |
| Q8NFA0-2 | 2 |
RefSeq proteins (1): NP_115971* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001394 | Peptidase_C19_UCH | Domain |
| IPR002048 | EF_hand_dom | Domain |
| IPR006615 | Pept_C19_DUSP | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018200 | USP_CS | Conserved_site |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR028135 | Ub_USP-typ | Domain |
| IPR028889 | USP | Domain |
| IPR035927 | DUSP-like_sf | Homologous_superfamily |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR050185 | Ub_carboxyl-term_hydrolase | Family |
| IPR057368 | USP32_N | Domain |
Pfam: PF00443, PF06337, PF13202, PF14836, PF25265
UniProt features (37 total): binding site 9, modified residue 7, domain 5, sequence variant 4, active site 2, splice variant 2, sequence conflict 2, region of interest 2, chain 1, propeptide 1, lipid moiety-binding region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NFA0-F1 | 73.78 | 0.42 |
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): 743 (nucleophile); 1526 (proton acceptor)
Ligand- & substrate-binding residues (9): 241; 243; 245; 247; 252; 277; 279; 281; 288
Post-translational modifications (8): 1173, 1350, 1372, 1376, 1454, 1588, 1601, 1601
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 449 (showing top):
GGGACCA_MIR133A_MIR133B, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_RESPONSE_TO_PEPTIDE, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_DNA_DAMAGE_TOLERANCE, WONG_PROTEASOME_GENE_MODULE, CACCAGC_MIR138, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY
GO Biological Process (3): proteolysis (GO:0006508), protein deubiquitination (GO:0016579), positive regulation of TORC1 signaling (GO:1904263)
GO Molecular Function (8): cysteine-type deubiquitinase activity (GO:0004843), calcium ion binding (GO:0005509), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787), metal ion binding (GO:0046872), deubiquitinase activity (GO:0101005)
GO Cellular Component (6): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cytoplasm (GO:0005737), endomembrane system (GO:0012505), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 2 |
| protein metabolic process | 1 |
| cysteine-type deubiquitinase activity | 1 |
| protein modification by small protein removal | 1 |
| positive regulation of TOR signaling | 1 |
| TORC1 signaling | 1 |
| regulation of TORC1 signaling | 1 |
| cysteine-type peptidase activity | 1 |
| deubiquitinase activity | 1 |
| metal ion binding | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| ubiquitin-like protein peptidase activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1434 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| USP32 | TBC1D3 | Q8IZP1 | 916 |
| USP32 | TBC1D3B | A6NDS4 | 747 |
| USP32 | APPBP2 | Q92624 | 546 |
| USP32 | CHCT1 | Q86WR6 | 518 |
| USP32 | USP28 | Q96RU2 | 503 |
| USP32 | ATXN3 | P54252 | 488 |
| USP32 | TMEM167A | Q8TBQ9 | 484 |
| USP32 | USP48 | Q86UV5 | 482 |
| USP32 | BCAS3 | Q9H6U6 | 479 |
| USP32 | USP14 | P54578 | 475 |
| USP32 | CYLD | Q9NQC7 | 470 |
| USP32 | JOSD1 | Q15040 | 465 |
| USP32 | MYSM1 | Q5VVJ2 | 461 |
| USP32 | USP39 | Q53GS9 | 458 |
| USP32 | USP9X | Q93008 | 455 |
IntAct
71 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| N | EIF2AK2 | psi-mi:“MI:0914”(association) | 0.820 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| USP32 | NME4 | psi-mi:“MI:0914”(association) | 0.560 |
| USP32 | NME4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ALDH3B1 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| MANSC1 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| FDFT1 | USP32 | psi-mi:“MI:0914”(association) | 0.530 |
| CD83 | BTAF1 | psi-mi:“MI:0914”(association) | 0.530 |
| TPCN2 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB6B | SBF1 | psi-mi:“MI:0914”(association) | 0.530 |
| ENTPD7 | PGK2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
| CTLA4 | B4GALT5 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNE3 | RIOK3 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC31A1 | PRORP | psi-mi:“MI:0914”(association) | 0.530 |
| USP32 | ZDHHC17 | psi-mi:“MI:0915”(physical association) | 0.510 |
| Dlg4 | USP32 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| HSCB | USP32 | psi-mi:“MI:0915”(physical association) | 0.370 |
| USP32 | PCNA | psi-mi:“MI:0915”(physical association) | 0.370 |
| Pcna | SIVA1 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNCRIP | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| BAG6 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| SORT1 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| RAP1B | KLC1 | psi-mi:“MI:0914”(association) | 0.350 |
| CAND1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (155): USP32 (Two-hybrid), USP32 (Affinity Capture-Western), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), USP32 (Affinity Capture-MS), NME4 (Affinity Capture-MS)
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: 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
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
186 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 164 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5209 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:60179429:C:CA | acceptor_loss | 1.0000 |
| 17:60179430:T:C | acceptor_loss | 1.0000 |
| 17:60180549:CAG:C | donor_gain | 1.0000 |
| 17:60180638:C:CC | acceptor_gain | 1.0000 |
| 17:60181319:CTTA:C | donor_loss | 1.0000 |
| 17:60181320:TTACC:T | donor_loss | 1.0000 |
| 17:60181321:TACCG:T | donor_loss | 1.0000 |
| 17:60181322:A:AC | donor_gain | 1.0000 |
| 17:60181322:AC:A | donor_gain | 1.0000 |
| 17:60181322:ACC:A | donor_loss | 1.0000 |
| 17:60181323:C:CA | donor_gain | 1.0000 |
| 17:60181323:CC:C | donor_gain | 1.0000 |
| 17:60181323:CCGA:C | donor_gain | 1.0000 |
| 17:60181323:CCGAA:C | donor_gain | 1.0000 |
| 17:60181367:T:TA | donor_gain | 1.0000 |
| 17:60181745:GAAC:G | acceptor_gain | 1.0000 |
| 17:60181747:ACC:A | acceptor_loss | 1.0000 |
| 17:60181749:C:CC | acceptor_gain | 1.0000 |
| 17:60181749:C:CG | acceptor_loss | 1.0000 |
| 17:60181750:T:A | acceptor_loss | 1.0000 |
| 17:60181756:C:CT | acceptor_gain | 1.0000 |
| 17:60181757:A:T | acceptor_gain | 1.0000 |
| 17:60185518:CA:C | donor_gain | 1.0000 |
| 17:60185557:T:TA | donor_gain | 1.0000 |
| 17:60190557:ACTT:A | donor_loss | 1.0000 |
| 17:60190558:CTT:C | donor_loss | 1.0000 |
| 17:60190559:TTACC:T | donor_loss | 1.0000 |
| 17:60190560:TACCC:T | donor_loss | 1.0000 |
| 17:60190561:A:AC | donor_gain | 1.0000 |
| 17:60190561:A:C | donor_loss | 1.0000 |
AlphaMissense
10612 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:60180558:T:A | D1543V | 1.000 |
| 17:60180558:T:C | D1543G | 1.000 |
| 17:60180558:T:G | D1543A | 1.000 |
| 17:60180559:C:G | D1543H | 1.000 |
| 17:60180560:A:C | N1542K | 1.000 |
| 17:60180560:A:T | N1542K | 1.000 |
| 17:60180574:A:G | W1538R | 1.000 |
| 17:60180574:A:T | W1538R | 1.000 |
| 17:60180610:G:C | H1526D | 1.000 |
| 17:60183392:A:T | V1299D | 1.000 |
| 17:60183414:A:G | W1292R | 1.000 |
| 17:60183414:A:T | W1292R | 1.000 |
| 17:60183433:A:C | F1285L | 1.000 |
| 17:60183433:A:T | F1285L | 1.000 |
| 17:60183435:A:G | F1285L | 1.000 |
| 17:60185493:C:A | K1267N | 1.000 |
| 17:60185493:C:G | K1267N | 1.000 |
| 17:60185518:C:G | C1259S | 1.000 |
| 17:60185519:A:T | C1259S | 1.000 |
| 17:60185526:A:C | C1256W | 1.000 |
| 17:60185527:C:T | C1256Y | 1.000 |
| 17:60185528:A:G | C1256R | 1.000 |
| 17:60185578:A:G | L1239P | 1.000 |
| 17:60190583:A:C | Y1208D | 1.000 |
| 17:60190583:A:G | Y1208H | 1.000 |
| 17:60190585:C:G | R1207P | 1.000 |
| 17:60190586:G:T | R1207S | 1.000 |
| 17:60190588:A:G | L1206P | 1.000 |
| 17:60190588:A:T | L1206H | 1.000 |
| 17:60190590:G:C | H1205Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000010397 (17:60278579 G>C), RS1000013402 (17:60420196 G>T), RS1000033501 (17:60250504 G>A), RS1000042882 (17:60278203 C>T), RS1000053997 (17:60203862 A>G), RS1000065893 (17:60331487 C>G), RS1000068625 (17:60247051 C>T), RS1000093569 (17:60395391 G>C), RS1000110882 (17:60287692 G>A), RS1000112095 (17:60257401 T>C), RS1000146479 (17:60324069 C>A,T), RS1000152784 (17:60305089 G>C), RS1000157025 (17:60290899 A>T), RS1000188343 (17:60402911 G>A), RS1000205069 (17:60305562 T>A)
Disease associations
OMIM: gene MIM:607740 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012198_7 | Interleukin-6 levels | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004810 | interleukin-6 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6195760 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.67 | IC50 | 21.2 | nM | CHEMBL6195038 |
| 5.22 | IC50 | 6027 | nM | CHEMBL6195023 |
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Lead | affects splicing, increases expression | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| afimoxifene | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| cupric oxide | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluorobutanesulfonic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Gallic Acid | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Raloxifene Hydrochloride | decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL6195018 | Binding | Binding affinity to human USP32 in recombinant human protein using Activity assay using Ub-RhoMP (USP32) ( Substrate: fluorogenic ubiquitin-rhodamine-morpholine (UbRhoMP)) | Data for DCP probe Huib32 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_1661 | ZR-75-30 | Cancer cell line | Female |
| CVCL_TW88 | HAP1 USP32 (-) 1 | Cancer cell line | Male |
| CVCL_TW89 | HAP1 USP32 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.