PRSS23
geneOn this page
Also known as SPUVESIG13
Summary
PRSS23 (serine protease 23, HGNC:14370) is a protein-coding gene on chromosome 11q14.2, encoding Serine protease 23 (O95084).
This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 11098 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 147 total — 4 pathogenic, 5 likely-pathogenic
- MANE Select transcript:
NM_007173
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14370 |
| Approved symbol | PRSS23 |
| Name | serine protease 23 |
| Location | 11q14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SPUVE, SIG13 |
| Ensembl gene | ENSG00000150687 |
| Ensembl biotype | protein_coding |
| OMIM | 618376 |
| Entrez | 11098 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 8 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000280258, ENST00000527521, ENST00000528769, ENST00000531475, ENST00000531521, ENST00000532234, ENST00000532572, ENST00000533880, ENST00000533902, ENST00000893185, ENST00000893186, ENST00000915854, ENST00000965678, ENST00000965679
RefSeq mRNA: 3 — MANE Select: NM_007173
NM_001293179, NM_001293180, NM_007173
CCDS: CCDS8278
Canonical transcript exons
ENST00000280258 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001315190 | 86807631 | 86811233 |
| ENSE00002145691 | 86800542 | 86800651 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 99.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 213.4842 / max 2359.2879, expressed in 1593 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 116127 | 200.8979 | 1587 |
| 116126 | 11.9869 | 1384 |
| 116128 | 0.4406 | 264 |
| 116125 | 0.1587 | 31 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nasal cavity epithelium | UBERON:0005384 | 99.65 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 99.13 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 99.06 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.00 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.88 | gold quality |
| endometrium epithelium | UBERON:0004811 | 98.86 | gold quality |
| right coronary artery | UBERON:0001625 | 98.81 | gold quality |
| saphenous vein | UBERON:0007318 | 98.50 | gold quality |
| decidua | UBERON:0002450 | 98.41 | gold quality |
| urethra | UBERON:0000057 | 98.40 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 98.21 | gold quality |
| bronchus | UBERON:0002185 | 98.20 | gold quality |
| bronchial epithelial cell | CL:0002328 | 98.08 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.96 | gold quality |
| trachea | UBERON:0003126 | 97.90 | gold quality |
| gall bladder | UBERON:0002110 | 97.77 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 97.73 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 97.72 | gold quality |
| nasopharynx | UBERON:0001728 | 97.70 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.46 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.27 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.24 | gold quality |
| popliteal artery | UBERON:0002250 | 97.16 | gold quality |
| tibial artery | UBERON:0007610 | 97.15 | gold quality |
| aorta | UBERON:0000947 | 97.14 | gold quality |
| ascending aorta | UBERON:0001496 | 97.13 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.13 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.06 | gold quality |
| right lung | UBERON:0002167 | 97.02 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.95 | gold quality |
Single-cell (SCXA)
Detected in 28 experiment(s), a significant marker in 26.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-9 | yes | 2293.42 |
| E-MTAB-10553 | yes | 2233.17 |
| E-CURD-126 | yes | 2216.61 |
| E-MTAB-7051 | yes | 2062.00 |
| E-GEOD-134144 | yes | 1600.82 |
| E-MTAB-6308 | yes | 1470.57 |
| E-CURD-114 | yes | 1312.73 |
| E-GEOD-114530 | yes | 1164.57 |
| E-MTAB-8142 | yes | 1162.54 |
| E-GEOD-124472 | yes | 946.05 |
| E-MTAB-7052 | yes | 934.13 |
| E-GEOD-135922 | yes | 867.13 |
| E-MTAB-3929 | yes | 666.47 |
| E-MTAB-6701 | yes | 122.51 |
| E-HCAD-1 | yes | 49.45 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1
miRNA regulators (miRDB)
98 targeting PRSS23, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
Literature-anchored findings (GeneRIF, showing 4)
- PRSS23 might be a critical component of estrogen-mediated cell proliferation of ERalpha-positive breast cancer cells. (PMID:22291950)
- PRSS23 knockdown could suppress tumor growth of gastric cancer in vitro and in vivo through inhibiting EIF2 signaling, and EIF4E maybe a potential target of PRSS23. PRSS23 could serve as a potential target for gastric cancer therapy, and also a biomarker for the prediction of prognosis of gastric cancer. (PMID:30769097)
- Exosomal microRNA-1246 from human umbilical cord mesenchymal stem cells potentiates myocardial angiogenesis in chronic heart failure. (PMID:34270841)
- Serine protease PRSS23 drives gastric cancer by enhancing tumor associated macrophage infiltration via FGF2. (PMID:36189305)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Prss23 | ENSMUSG00000039405 |
| rattus_norvegicus | Prss23 | ENSRNOG00000017307 |
Paralogs (1): PRSS35 (ENSG00000146250)
Protein
Protein identifiers
Serine protease 23 — O95084 (reviewed: O95084)
Alternative names: Putative secreted protein Zsig13
All UniProt accessions (4): O95084, E9PIB7, E9PMX2, E9PRR2
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Secreted.
Similarity. Belongs to the peptidase S1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95084-1 | 1 | yes |
| O95084-2 | 2 |
RefSeq proteins (3): NP_001280108, NP_001280109, NP_009104* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001254 | Trypsin_dom | Domain |
| IPR009003 | Peptidase_S1_PA | Homologous_superfamily |
| IPR018114 | TRYPSIN_HIS | Active_site |
| IPR043504 | ||
| IPR050966 | Glutamyl_endopeptidase | Family |
Pfam: PF00089
UniProt features (10 total): active site 3, glycosylation site 2, signal peptide 1, chain 1, modified residue 1, disulfide bond 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95084-F1 | 82.18 | 0.56 |
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 (3): 175 (charge relay system); 240 (charge relay system); 316 (charge relay system)
Post-translational modifications (1): 109
Disulfide bonds (1): 160–176
Glycosylation sites (2): 93, 207
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-8957275 | Post-translational protein phosphorylation |
MSigDB gene sets: 277 (showing top):
MODULE_172, MODULE_52, BERENJENO_ROCK_SIGNALING_NOT_VIA_RHOA_DN, LEE_NEURAL_CREST_STEM_CELL_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, TSENG_IRS1_TARGETS_UP, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, DITTMER_PTHLH_TARGETS_UP, KYNG_DNA_DAMAGE_DN, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_2NM_UP
GO Biological Process (1): proteolysis (GO:0006508)
GO Molecular Function (5): serine-type endopeptidase activity (GO:0004252), protein binding (GO:0005515), peptidase activity (GO:0008233), serine-type peptidase activity (GO:0008236), hydrolase activity (GO:0016787)
GO Cellular Component (4): nucleus (GO:0005634), endoplasmic reticulum lumen (GO:0005788), extracellular exosome (GO:0070062), extracellular region (GO:0005576)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein metabolic process | 1 |
| endopeptidase activity | 1 |
| serine-type peptidase activity | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| serine hydrolase activity | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
858 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRSS23 | FAM20A | Q96MK3 | 553 |
| PRSS23 | WFDC2 | Q14508 | 547 |
| PRSS23 | ODF2L | Q9ULJ1 | 497 |
| PRSS23 | MXRA8 | Q9BRK3 | 452 |
| PRSS23 | SERPINA11 | Q86U17 | 440 |
| PRSS23 | FAM181B | A6NEQ2 | 434 |
| PRSS23 | SERPINA3 | P01011 | 422 |
| PRSS23 | F2RL3 | Q96RI0 | 419 |
| PRSS23 | SERPINA10 | Q9UK55 | 419 |
| PRSS23 | SERPINA9 | Q86WD7 | 419 |
| PRSS23 | SERPINA4 | P29622 | 407 |
| PRSS23 | SERPINA12 | Q8IW75 | 401 |
| PRSS23 | WFS1 | O76024 | 396 |
| PRSS23 | SERPINA6 | P08185 | 396 |
| PRSS23 | COL6A2 | P12110 | 393 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRSS23 | SEC11C | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLRG2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.530 |
| PRSS23 | COL5A1 | psi-mi:“MI:0914”(association) | 0.530 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| PRSS23 | H1-0 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Ppp2r1a | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| Cep152 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| Nup98 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| Snw1 | AKR7A2 | psi-mi:“MI:0914”(association) | 0.350 |
| CTR9 | POLR2B | psi-mi:“MI:0914”(association) | 0.350 |
| Rbm8a | GOSR1 | psi-mi:“MI:0914”(association) | 0.350 |
| Ube2i | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| Nfyc | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| TENT5A | GOLGA8R | psi-mi:“MI:0914”(association) | 0.350 |
| BAX | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| NOP9 | ENDOV | psi-mi:“MI:0914”(association) | 0.350 |
| SRPRA | PKD2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCL3 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF7 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| CRLF1 | PRSS23 | psi-mi:“MI:0914”(association) | 0.350 |
| PRSS23 | HBD | psi-mi:“MI:0914”(association) | 0.350 |
| CDH5 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PRSS23 | SEC11C | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (68): ACTB (Affinity Capture-MS), LRP2 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS), PRSS23 (Affinity Capture-MS)
ESM2 similar proteins: A4VCL2, O19112, O62589, O73797, O75072, O75339, O95084, P13721, P18292, P19221, P30432, P79701, Q08629, Q09101, Q0VBN2, Q0WQD2, Q1LZE9, Q1WK23, Q1WK24, Q4G148, Q5E9X7, Q5K027, Q5R212, Q5R537, Q5XIL2, Q5XV99, Q60HG0, Q62288, Q66K08, Q6AY61, Q701R0, Q701R1, Q701R2, Q8C0F9, Q8CBQ5, Q8GWW4, Q8GZ81, Q8IZU8, Q8N3Z0, Q8R507
Diamond homologs: O19045, O46644, O95084, Q1LZE9, Q1WK23, Q1WK24, Q5E9X7, Q5R212, Q63207, Q6AY61, Q8C0F9, Q8N3Z0, Q9D6X6, P08217
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 | 4 |
| Likely pathogenic | 5 |
| Uncertain significance | 107 |
| Likely benign | 6 |
| Benign | 21 |
Top pathogenic / likely-pathogenic (9)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1076601 | NM_012193.4(FZD4):c.1510_1528del (p.Trp504fs) | Pathogenic |
| 2858425 | NM_012193.4(FZD4):c.647del (p.Lys216fs) | Pathogenic |
| 523865 | NM_012193.4(FZD4):c.666G>A (p.Trp222Ter) | Pathogenic |
| 5486 | NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) | Pathogenic |
| 2735717 | NM_012193.4(FZD4):c.314T>C (p.Met105Thr) | Likely pathogenic |
| 3382395 | NM_012193.4(FZD4):c.1051G>C (p.Ala351Pro) | Likely pathogenic |
| 4293656 | NM_012193.4(FZD4):c.1512G>A (p.Trp504Ter) | Likely pathogenic |
| 450699 | NM_012193.4(FZD4):c.1218TGC[1] (p.Ala408del) | Likely pathogenic |
| 929303 | NM_012193.4(FZD4):c.615del (p.Tyr206fs) | Likely pathogenic |
SpliceAI
551 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:86800342:G:T | donor_gain | 1.0000 |
| 11:86800405:G:T | donor_gain | 0.9900 |
| 11:86952450:A:C | acceptor_gain | 0.9900 |
| 11:86807630:GAACA:G | acceptor_gain | 0.9800 |
| 11:86952449:C:CT | acceptor_gain | 0.9800 |
| 11:86800650:GG:G | donor_gain | 0.9700 |
| 11:86800651:GG:G | donor_gain | 0.9700 |
| 11:86952471:C:CC | acceptor_gain | 0.9700 |
| 11:86800341:G:GT | donor_gain | 0.9600 |
| 11:86800648:GCGG:G | donor_gain | 0.9600 |
| 11:86800649:CGGGT:C | donor_loss | 0.9600 |
| 11:86800650:GGGTG:G | donor_loss | 0.9600 |
| 11:86800652:G:A | donor_loss | 0.9600 |
| 11:86800653:T:A | donor_loss | 0.9600 |
| 11:86800654:G:GC | donor_loss | 0.9600 |
| 11:86800655:AGTG:A | donor_loss | 0.9600 |
| 11:86800342:G:GT | donor_gain | 0.9500 |
| 11:86800652:G:GG | donor_gain | 0.9500 |
| 11:86800405:G:GT | donor_gain | 0.9400 |
| 11:86807629:A:AG | acceptor_gain | 0.9300 |
| 11:86807630:G:GG | acceptor_gain | 0.9300 |
| 11:86952468:GAA:G | acceptor_gain | 0.9300 |
| 11:86800418:GTT:G | donor_gain | 0.9200 |
| 11:86800419:TTT:T | donor_gain | 0.9200 |
| 11:86952443:T:TC | acceptor_gain | 0.9200 |
| 11:86804650:GTT:G | acceptor_gain | 0.9100 |
| 11:86952262:TCATC:T | donor_gain | 0.9100 |
| 11:86952467:AGAA:A | acceptor_gain | 0.9100 |
| 11:86800357:GCCC:G | donor_gain | 0.9000 |
| 11:86952441:C:CT | acceptor_gain | 0.9000 |
AlphaMissense
2496 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:86808050:G:C | R136T | 1.000 |
| 11:86808050:G:T | R136M | 1.000 |
| 11:86808091:T:C | F150L | 1.000 |
| 11:86808092:T:G | F150C | 1.000 |
| 11:86808093:C:A | F150L | 1.000 |
| 11:86808093:C:G | F150L | 1.000 |
| 11:86808121:T:A | C160S | 1.000 |
| 11:86808121:T:C | C160R | 1.000 |
| 11:86808122:G:A | C160Y | 1.000 |
| 11:86808122:G:C | C160S | 1.000 |
| 11:86808122:G:T | C160F | 1.000 |
| 11:86808123:C:G | C160W | 1.000 |
| 11:86808127:G:C | G162R | 1.000 |
| 11:86808128:G:A | G162D | 1.000 |
| 11:86808152:T:A | V170D | 1.000 |
| 11:86808155:T:A | L171H | 1.000 |
| 11:86808155:T:C | L171P | 1.000 |
| 11:86808164:C:A | A174D | 1.000 |
| 11:86808169:T:A | C176S | 1.000 |
| 11:86808169:T:C | C176R | 1.000 |
| 11:86808170:G:A | C176Y | 1.000 |
| 11:86808170:G:C | C176S | 1.000 |
| 11:86808170:G:T | C176F | 1.000 |
| 11:86808171:C:G | C176W | 1.000 |
| 11:86808221:G:A | G193D | 1.000 |
| 11:86808340:T:A | W233R | 1.000 |
| 11:86808340:T:C | W233R | 1.000 |
| 11:86808342:G:C | W233C | 1.000 |
| 11:86808342:G:T | W233C | 1.000 |
| 11:86808380:A:T | D246V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001306 (11:86842740 A>C,G), RS1000021698 (11:86875295 C>A,T), RS1000033568 (11:86837357 A>G,T), RS1000097327 (11:86791958 G>A), RS1000128536 (11:86800721 A>T), RS1000162222 (11:86857294 C>A,G), RS1000168492 (11:86820423 G>A), RS1000170107 (11:86940968 G>C), RS1000202493 (11:86873933 T>A), RS1000227263 (11:86894687 G>A), RS1000240633 (11:86890343 C>A,T), RS1000284752 (11:86912878 T>C), RS1000309800 (11:86823722 G>A,C), RS1000330994 (11:86846990 A>T), RS1000361602 (11:86823822 C>T)
Disease associations
OMIM: gene MIM:618376 | disease phenotypes: MIM:133780
GenCC curated gene-disease
Mondo (1): exudative vitreoretinopathy 1 (MONDO:0007589)
Orphanet (2): Familial exudative vitreoretinopathy (Orphanet:891), Retinopathy of prematurity (Orphanet:90050)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004183_16 | Lung function (FEV1) | 9.000000e-09 |
| GCST005580_252 | Intraocular pressure | 2.000000e-10 |
| GCST005580_268 | Intraocular pressure | 4.000000e-10 |
| GCST006288_186 | Heel bone mineral density | 3.000000e-07 |
| GCST006288_425 | Heel bone mineral density | 8.000000e-06 |
| GCST006288_46 | Heel bone mineral density | 1.000000e-11 |
| GCST006412_6 | Intraocular pressure | 6.000000e-10 |
| GCST006979_411 | Heel bone mineral density | 9.000000e-61 |
| GCST007430_118 | Peak expiratory flow | 5.000000e-10 |
| GCST007431_162 | Lung function (FEV1/FVC) | 5.000000e-20 |
| GCST007432_144 | FEV1 | 2.000000e-13 |
| GCST007692_67 | Chronic obstructive pulmonary disease | 7.000000e-10 |
| GCST008062_79 | Blood urea nitrogen levels | 6.000000e-13 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004314 | forced expiratory volume |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0009718 | peak expiratory flow |
| EFO:0004713 | FEV/FVC ratio |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536382 | Exudative vitreoretinopathy 1 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs10898563 | FZD4, PRSS23 | 0.00 | 0 |
CTD chemical–gene interactions
103 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | increases reaction, decreases reaction, affects cotreatment, decreases expression, increases expression | 12 |
| Valproic Acid | decreases expression, increases expression, affects cotreatment | 8 |
| bisphenol A | decreases reaction, affects expression, increases expression, affects cotreatment, increases methylation (+1 more) | 5 |
| Benzo(a)pyrene | affects methylation, increases expression | 5 |
| methylmercuric chloride | decreases expression, affects cotreatment | 4 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment, increases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Ethinyl Estradiol | decreases expression, affects expression | 3 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, affects expression, increases expression | 3 |
| Tobacco Smoke Pollution | decreases expression, decreases methylation | 3 |
| Genistein | decreases reaction, increases expression, decreases expression | 3 |
| sodium arsenite | increases abundance, increases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| belinostat | decreases expression, affects cotreatment | 2 |
| Resveratrol | affects cotreatment, increases expression, decreases expression | 2 |
| Fulvestrant | affects cotreatment, increases methylation, decreases expression | 2 |
| Vorinostat | affects cotreatment, decreases expression | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Copper | affects cotreatment, increases expression, affects binding | 2 |
| Doxorubicin | increases expression | 2 |
| Nickel | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Progesterone | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2CA | Abcam HeLa PRSS23 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chronic obstructive pulmonary disease, exudative vitreoretinopathy 1