USP31
gene geneOn this page
Also known as KIAA1203
Summary
USP31 (ubiquitin specific peptidase 31, HGNC:20060) is a protein-coding gene on chromosome 16p12.2, encoding Ubiquitin carboxyl-terminal hydrolase 31 (Q70CQ4). Deubiquitinase that recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin.
Enables cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination and proteolysis. Located in nucleus.
Source: NCBI Gene 57478 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 231 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_020718
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20060 |
| Approved symbol | USP31 |
| Name | ubiquitin specific peptidase 31 |
| Location | 16p12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1203 |
| Ensembl gene | ENSG00000103404 |
| Ensembl biotype | protein_coding |
| OMIM | 619536 |
| Entrez | 57478 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000219689, ENST00000563525, ENST00000567975, ENST00000953487
RefSeq mRNA: 2 — MANE Select: NM_020718
NM_001387221, NM_020718
CCDS: CCDS10607
Canonical transcript exons
ENST00000219689 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000677549 | 23079946 | 23080171 |
| ENSE00000677550 | 23073722 | 23073880 |
| ENSE00001318477 | 23061406 | 23069616 |
| ENSE00001365379 | 23087092 | 23087186 |
| ENSE00001366994 | 23102319 | 23102463 |
| ENSE00001367898 | 23108046 | 23108183 |
| ENSE00001371775 | 23090624 | 23090804 |
| ENSE00001375975 | 23105441 | 23105576 |
| ENSE00001383579 | 23148638 | 23149452 |
| ENSE00001385008 | 23087724 | 23087835 |
| ENSE00001386630 | 23106399 | 23106487 |
| ENSE00001711660 | 23106213 | 23106305 |
| ENSE00003581647 | 23072045 | 23072197 |
| ENSE00003718345 | 23082438 | 23082557 |
| ENSE00003727403 | 23085585 | 23085662 |
| ENSE00003732583 | 23084860 | 23084989 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 96.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8098 / max 92.8446, expressed in 1723 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156768 | 8.8098 | 1723 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| inferior vagus X ganglion | UBERON:0005363 | 96.34 | gold quality |
| secondary oocyte | CL:0000655 | 95.68 | gold quality |
| cauda epididymis | UBERON:0004360 | 93.84 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 93.66 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 93.02 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 92.91 | gold quality |
| adult organism | UBERON:0007023 | 92.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.55 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 92.15 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 92.02 | gold quality |
| nipple | UBERON:0002030 | 91.84 | gold quality |
| medulla oblongata | UBERON:0001896 | 91.79 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.19 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 91.15 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 91.06 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.95 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 90.85 | gold quality |
| parietal lobe | UBERON:0001872 | 90.37 | gold quality |
| ventral tegmental area | UBERON:0002691 | 90.32 | gold quality |
| tibialis anterior | UBERON:0001385 | 89.73 | silver quality |
| heart right ventricle | UBERON:0002080 | 89.62 | gold quality |
| myocardium | UBERON:0002349 | 89.42 | gold quality |
| pons | UBERON:0000988 | 89.36 | gold quality |
| corpus callosum | UBERON:0002336 | 89.28 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 89.07 | gold quality |
| entorhinal cortex | UBERON:0002728 | 88.55 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 88.41 | gold quality |
| endothelial cell | CL:0000115 | 88.35 | gold quality |
| skin of hip | UBERON:0001554 | 88.12 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 87.78 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.85 |
| E-CURD-10 | no | 830.05 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
332 targeting USP31, 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-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
Literature-anchored findings (GeneRIF, showing 2)
- USP31 acetylation at Lys1264 is essential for its activity and cervical cancer cell growth. (PMID:34184746)
- USP31 serves as a potential biomarker for predicting prognosis and immune responses for clear cell renal cell carcinoma via single-cell and bulk RNA-sequencing. (PMID:37699648)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | usp31 | ENSDARG00000074017 |
| mus_musculus | Usp31 | ENSMUSG00000063317 |
| rattus_norvegicus | Usp31 | ENSRNOG00000025793 |
Paralogs (71): USP2 (ENSG00000036672), USP28 (ENSG00000048028), USP36 (ENSG00000055483), USP13 (ENSG00000058056), USP33 (ENSG00000077254), USP40 (ENSG00000085982), USP48 (ENSG00000090686), USP14 (ENSG00000101557), USP11 (ENSG00000102226), USP10 (ENSG00000103194), 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 31 — Q70CQ4 (reviewed: Q70CQ4)
Alternative names: Deubiquitinating enzyme 31, Ubiquitin thioesterase 31, Ubiquitin-specific-processing protease 31
All UniProt accessions (3): Q70CQ4, A0A087WXV9, I3L4X5
UniProt curated annotations — full annotation on UniProt →
Function. Deubiquitinase that recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. May play a role in the regulation of NF-kappa-B signaling pathway by deubiquitinating TRAF2. (Microbial infection) Plays a positive role in foot-and-mouth disease and classical swine fever viral infection. Mechanistically, associates with internal ribosomal entry site (IRES) element within the 5’-untranslated region of viral genomes to promote translation of the virus-encoded polyprotein.
Tissue specificity. Widely expressed.
Post-translational modifications. Acetylated at Lys-1264. Acetylation decreases activity. Deacetylated by SIRT1.
Similarity. Belongs to the peptidase C19 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q70CQ4-1 | 1 | yes |
| Q70CQ4-2 | 2 |
RefSeq proteins (2): NP_001374150, NP_065769* (*=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 |
| IPR050185 | Ub_carboxyl-term_hydrolase | Family |
Pfam: PF00443
UniProt features (43 total): compositionally biased region 17, sequence variant 7, region of interest 6, splice variant 4, sequence conflict 3, active site 2, chain 1, domain 1, modified residue 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q70CQ4-F1 | 58.39 | 0.27 |
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): 137 (nucleophile); 723 (proton acceptor)
Post-translational modifications (1): 1264
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 1264 | significant increases of traf2 polyubiquitination levels. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 184 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, TGACCTY_ERR1_Q2, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, USF_01, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, DOUGLAS_BMI1_TARGETS_UP, CHANG_IMMORTALIZED_BY_HPV31_UP, chr16p12, LIU_SOX4_TARGETS_UP, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, TCANNTGAY_SREBP1_01
GO Biological Process (2): proteolysis (GO:0006508), protein deubiquitination (GO:0016579)
GO Molecular Function (5): cysteine-type deubiquitinase activity (GO:0004843), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787), ubiquitin-like protein peptidase activity (GO:0019783)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| peptidase activity | 2 |
| protein metabolic process | 1 |
| cysteine-type deubiquitinase activity | 1 |
| protein modification by small protein removal | 1 |
| cysteine-type peptidase activity | 1 |
| deubiquitinase activity | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
876 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| USP31 | PTPRQ | Q9UMZ3 | 519 |
| USP31 | FBXO21 | O94952 | 506 |
| USP31 | RBBP6 | Q7Z6E9 | 473 |
| USP31 | ARHGEF33 | A8MVX0 | 447 |
| USP31 | CDH23 | Q9H251 | 421 |
| USP31 | ANO9 | A1A5B4 | 418 |
| USP31 | GCNA | Q96QF7 | 411 |
| USP31 | ANO4 | Q32M45 | 410 |
| USP31 | FGFBP3 | Q8TAT2 | 410 |
| USP31 | ZNF592 | Q92610 | 410 |
| USP31 | RIMKLA | Q8IXN7 | 403 |
| USP31 | FAM90A1 | Q86YD7 | 399 |
| USP31 | ELP4 | Q96EB1 | 398 |
| USP31 | USP30 | Q70CQ3 | 396 |
| USP31 | CDC42BPB | Q9Y5S2 | 391 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| APBB1 | SSPOP | psi-mi:“MI:0914”(association) | 0.350 |
| CTDSPL | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SFN | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAB | E2F8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAE | E2F8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAH | E2F8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAQ | E2F8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAZ | E2F8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAG | E2F8 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (36): USP31 (Affinity Capture-MS), USP31 (Proximity Label-MS), USP31 (Reconstituted Complex), USP31 (Affinity Capture-RNA), USP31 (Proximity Label-MS), USP31 (Proximity Label-MS), USP31 (Proximity Label-MS), USP31 (Proximity Label-MS), USP31 (Proximity Label-MS), USP31 (Proximity Label-MS), USP31 (Proximity Label-MS), USP31 (Proximity Label-MS), SIRT1 (Affinity Capture-Western), USP31 (Proximity Label-MS), USP31 (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, 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.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 13 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 484.5× | 3e-17 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 427.5× | 4e-17 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 427.5× | 4e-17 |
| Activation of BH3-only proteins | 7 | 316.0× | 4e-16 |
| RHO GTPases activate PKNs | 7 | 201.9× | 1e-14 |
| Intrinsic Pathway for Apoptosis | 7 | 186.3× | 2e-14 |
| FOXO-mediated transcription | 5 | 152.7× | 4e-10 |
| SARS-CoV-1-host interactions | 7 | 111.8× | 7e-13 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 5 | 152.6× | 5e-09 |
| intracellular protein localization | 7 | 61.1× | 6e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
231 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 194 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
8780 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:23072166:C:A | W789C | 1.000 |
| 16:23072166:C:G | W789C | 1.000 |
| 16:23072168:A:G | W789R | 1.000 |
| 16:23072168:A:T | W789R | 1.000 |
| 16:23073773:A:C | Y762D | 1.000 |
| 16:23073778:A:G | L760P | 1.000 |
| 16:23073835:T:A | D741V | 1.000 |
| 16:23073851:A:G | W736R | 1.000 |
| 16:23073851:A:T | W736R | 1.000 |
| 16:23073867:G:C | N730K | 1.000 |
| 16:23073867:G:T | N730K | 1.000 |
| 16:23073873:A:C | C728W | 1.000 |
| 16:23073874:C:T | C728Y | 1.000 |
| 16:23079952:A:G | Y724H | 1.000 |
| 16:23079955:G:C | H723D | 1.000 |
| 16:23079957:C:T | G722E | 1.000 |
| 16:23079977:G:C | H715Q | 1.000 |
| 16:23079977:G:T | H715Q | 1.000 |
| 16:23079979:G:C | H715D | 1.000 |
| 16:23079990:G:T | A711D | 1.000 |
| 16:23080137:A:T | V662D | 1.000 |
| 16:23082444:A:C | F648L | 1.000 |
| 16:23082444:A:T | F648L | 1.000 |
| 16:23082445:A:G | F648S | 1.000 |
| 16:23082446:A:G | F648L | 1.000 |
| 16:23082447:T:A | R647S | 1.000 |
| 16:23082447:T:G | R647S | 1.000 |
| 16:23082448:C:G | R647T | 1.000 |
| 16:23082450:C:A | K646N | 1.000 |
| 16:23082450:C:G | K646N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000056244 (16:23091365 C>T), RS1000098619 (16:23079136 T>C,G), RS1000130111 (16:23130120 C>G), RS1000158027 (16:23121509 C>T), RS1000170636 (16:23068337 C>T), RS1000186807 (16:23150671 T>C), RS1000207550 (16:23133265 G>A), RS1000284011 (16:23096843 T>C,G), RS1000335931 (16:23103057 T>A), RS1000361927 (16:23104091 C>A,T), RS1000367090 (16:23102797 T>C), RS1000398015 (16:23144503 A>G), RS1000410289 (16:23073561 T>G), RS1000441233 (16:23064287 C>G,T), RS1000500706 (16:23129747 T>C)
Disease associations
OMIM: gene MIM:619536 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): sensorineural hearing loss disorder (MONDO:0020678)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
GWAS associations
0 associations (top):
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 |
|---|---|---|
| FR900359 | increases phosphorylation | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-butenal | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Lead | decreases expression | 1 |
| Manganese | increases abundance, decreases expression | 1 |
| Silver | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases 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_TW86 | HAP1 USP31 (-) 1 | Cancer cell line | Male |
| CVCL_TW87 | HAP1 USP31 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
89 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01655212 | PHASE3 | TERMINATED | Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial |
| NCT02005822 | PHASE3 | COMPLETED | Congenital Cytomegalovirus: Efficacy of Antiviral Treatment |
| NCT03374514 | PHASE3 | UNKNOWN | Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery |
| NCT02497690 | PHASE2 | COMPLETED | Effectiveness of Therapy Via Telemedicine Following Cochlear Implants |
| NCT03107871 | PHASE2 | ACTIVE_NOT_RECRUITING | Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants |
| NCT04120116 | PHASE2 | COMPLETED | FX-322 in Adults With Stable Sensorineural Hearing Loss |
| NCT05061758 | PHASE2 | WITHDRAWN | A Trial of LY3056480 in Patients With SNLH |
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| NCT02693704 | PHASE2/PHASE3 | COMPLETED | Evaluation of a Binaural Spatialization Method for Hearing Aids |
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| NCT02616172 | PHASE1/PHASE2 | SUSPENDED | Autologous Bone Marrow Harvest and Transplant for Sensorineural Hearing Loss |
| NCT03616223 | PHASE1/PHASE2 | COMPLETED | FX-322 in Sensorineural Hearing Loss |
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| NCT04462198 | PHASE1/PHASE2 | COMPLETED | Phase I/IIa Study Evaluating Safety and Efficacy of an Intratympanic Dose of PIPE-505 in Subjects With Hearing Loss |
| NCT07032038 | PHASE1/PHASE2 | NOT_YET_RECRUITING | First In Human Randomised Trial of Rincell-1 in Adults With a Cochlear Implant |
| NCT06025097 | EARLY_PHASE1 | COMPLETED | Intra-Tympanic Steroid With PRP Combination in Sensorineural Hearing Loss and Tinnitus. |
| NCT06707389 | EARLY_PHASE1 | NOT_YET_RECRUITING | Autologous Blood Monocyte Vesicles for the Treatment of Sudden Deafness |
| NCT07472023 | EARLY_PHASE1 | ENROLLING_BY_INVITATION | Regenerative Medicine and Stem Cell-Based Interventions for Inner Ear Trauma, Tinnitus, and Sensorineural Hearing Loss |
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| NCT00023049 | Not specified | COMPLETED | Genetic Analysis of Hereditary Disorders of Hearing and Balance |
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| NCT00589511 | Not specified | COMPLETED | Nucleus Freedom Cochlear Implant System Pediatric Post-approval Study |
| NCT00678899 | Not specified | COMPLETED | Evaluation of the Nucleus Hybrid™ L24 Cochlear Implant System |
| NCT00787189 | Not specified | COMPLETED | Study of Low Level Laser Therapy and Word Recognition in Hearing Impaired Individuals |
| NCT01184248 | Not specified | COMPLETED | The Effect of Sound Stimulation on Pure-tone Hearing Threshold |
| NCT01434446 | Not specified | COMPLETED | The Effect of Sound Stimulation on Hearing Ability |
| NCT01749592 | Not specified | COMPLETED | Single-sided Deafness and Cochlear Implants |
| NCT01781039 | Not specified | COMPLETED | Investigation of Anatomical Correlates of Speech Discrimination |
| NCT02082431 | Not specified | COMPLETED | Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss. |
| NCT02093806 | Not specified | UNKNOWN | Clinical Applications of Round Window Imaging Anatomy in Cochlear Implant Surgery |
| NCT02252601 | Not specified | UNKNOWN | Evaluation of the High Frequency Digit Triplet Test in Cystic Fibrosis |
| NCT02584361 | Not specified | UNKNOWN | Cochlear Implant and Vestibular Function. |
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| NCT02689349 | Not specified | COMPLETED | Esteem New Subject Enrollment Post Approval Study |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): sensorineural hearing loss disorder