PSCA
geneOn this page
Also known as lncPSCA
Summary
PSCA (prostate stem cell antigen, HGNC:9500) is a protein-coding gene on chromosome 8q24.3, encoding Prostate stem cell antigen (O43653). May be involved in the regulation of cell proliferation.
This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 8000 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 28 total
- Druggable target: yes
- MANE Select transcript:
NM_005672
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9500 |
| Approved symbol | PSCA |
| Name | prostate stem cell antigen |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | lncPSCA |
| Ensembl gene | ENSG00000167653 |
| Ensembl biotype | protein_coding |
| OMIM | 602470 |
| Entrez | 8000 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000301258, ENST00000505305, ENST00000510969, ENST00000513264, ENST00000918921, ENST00000966863
RefSeq mRNA: 1 — MANE Select: NM_005672
NM_005672
CCDS: CCDS47925
Canonical transcript exons
ENST00000301258 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001115318 | 142681921 | 142682725 |
| ENSE00002074308 | 142680495 | 142680563 |
| ENSE00003610878 | 142681327 | 142681434 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 99.50.
FANTOM5 (CAGE): breadth broad, TPM avg 8.6594 / max 2413.6191, expressed in 852 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 91354 | 6.8540 | 248 |
| 91350 | 0.9044 | 396 |
| 91349 | 0.5349 | 294 |
| 91352 | 0.1429 | 51 |
| 91351 | 0.1353 | 47 |
| 91353 | 0.0879 | 36 |
Top tissues by expression
154 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.50 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.45 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.15 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.79 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 93.90 | gold quality |
| body of stomach | UBERON:0001161 | 93.46 | gold quality |
| stomach | UBERON:0000945 | 92.76 | gold quality |
| urinary bladder | UBERON:0001255 | 90.67 | gold quality |
| prostate gland | UBERON:0002367 | 90.53 | gold quality |
| vagina | UBERON:0000996 | 88.28 | gold quality |
| trachea | UBERON:0003126 | 86.86 | gold quality |
| fundus of stomach | UBERON:0001160 | 86.42 | gold quality |
| skin of leg | UBERON:0001511 | 79.75 | gold quality |
| right lung | UBERON:0002167 | 79.69 | gold quality |
| gall bladder | UBERON:0002110 | 79.25 | gold quality |
| zone of skin | UBERON:0000014 | 78.69 | gold quality |
| skin of abdomen | UBERON:0001416 | 77.83 | gold quality |
| esophagus | UBERON:0001043 | 77.53 | gold quality |
| minor salivary gland | UBERON:0001830 | 75.80 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 75.41 | gold quality |
| tonsil | UBERON:0002372 | 74.84 | gold quality |
| placenta | UBERON:0001987 | 73.95 | gold quality |
| ectocervix | UBERON:0012249 | 73.02 | gold quality |
| right uterine tube | UBERON:0001302 | 72.56 | gold quality |
| duodenum | UBERON:0002114 | 72.04 | gold quality |
| uterine cervix | UBERON:0000002 | 70.63 | gold quality |
| metanephros cortex | UBERON:0010533 | 70.32 | gold quality |
| thymus | UBERON:0002370 | 69.47 | silver quality |
| layer of synovial tissue | UBERON:0007616 | 69.32 | gold quality |
| endocervix | UBERON:0000458 | 69.31 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 57.20 |
| E-HCAD-10 | yes | 16.38 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR, YY1
miRNA regulators (miRDB)
21 targeting PSCA, 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-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-4290 | 98.51 | 65.17 | 907 |
| HSA-MIR-6748-3P | 97.20 | 65.66 | 836 |
| HSA-MIR-6508-3P | 96.73 | 65.48 | 576 |
| HSA-MIR-552-3P | 96.68 | 64.12 | 1026 |
| HSA-MIR-6823-5P | 96.26 | 65.69 | 919 |
Literature-anchored findings (GeneRIF, showing 40)
- This transgenic system helps define the range of cellular changes associated with altered expression of PSCA, shows that transcriptional control is a major component regulating PSCA levels. (PMID:11752398)
- Here we describe the identification of a compact cell-specific and androgen-responsive enhancer between 2.7 and 3 kb upstream of the transcription start site. The enhancer functions autonomously when positioned immediately adjacent to a minimal promoter. (PMID:12351697)
- PSCA is expressed in an intermediate subpopulation of PrEC in transition from a basal to a terminally differentiated secretory phenotype (PMID:12496358)
- Data suggest that PSCA is a promising tumor marker and potential therapeutic target for patients with metastatic prostate cancer. (PMID:15814638)
- Significantly higher prostate stem cell antigen copy number was associated with pancreatic cancer (PMID:16957968)
- The chimeric alpha-PSCA-beta2/CD3zeta-TCR might now be used for arming human cytotoxic T-cells for further studies towards a clinical treatment of prostate cancer. (PMID:17492652)
- data identify prostate stem cell antigen(PSCA) mRNA in initial prostatic intraepithelial neoplasia (PIN) as a significant predictor of subsequent prostate cancer (PMID:17503471)
- Increased levels of IgG antibodies against the prostate stem cell antigen in the plasma is associated with pancreatic cancer (PMID:17549363)
- Result shows PSCA contains the cleavage site of the ER signal peptidase and the resulting cleavage products fail to bind to HLA-A(*)0201 and are not recognized by T lymphocytes. (PMID:17853904)
- This prospective study identifies PSCA mRNA in BPH as a significant predictor of cancer development after TURP (PMID:18076024)
- Overexpression of prostate stem cell antigen (PSCA) is associated with development of gestational trophoblastic neoplasia in hydatidiform mole. (PMID:18184265)
- combination of prostate stem cell antigen enhancer and uroplakin II promoter is feasible in constructing bladder cancer-specific vectors (PMID:18440837)
- Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer (PMID:18488030)
- the expression of PSCA correlates with relevant clinical benchmarks, such as Gleason score and metastasis. (PMID:18838214)
- The expressions of PSCA and Claudin-4 are upregulated in the pancreatic carcinomas. (PMID:19180924)
- Prostate stem cell antigen and prostate-specific membrane antigen are both highly expressed in lymph node and bone metastases of prostate cancer. (PMID:19343734)
- This prospective study identifies PSCA mRNA in preoperatively negative prostatic biopsies as a significant predictor of subsequent cancer after TURP. (PMID:19462463)
- Genetic variations in prostate stem cell antigen is associated with gastric cancer. (PMID:19554573)
- Prostate stem cell antigen polymorphisms are associated with stomach cancer. (PMID:19582881)
- Genetic variation in PSCA confers susceptibility to urinary bladder cancer. (PMID:19648920)
- Suggest that PSCA is a marker associated with neoplastic transformation of prostate cells, both in cystoprostatectomies with incidental prostate carcinoma and radical prostatectomies. (PMID:19822092)
- The expression of PSCA can be related to the development of pancreatic cancer, but not to the clinicopathological factors of the tumor. (PMID:19861285)
- rs2294008 polymorphism of PSCA gene may play a role in bladder cancer carcinogenesis. (PMID:20083643)
- Prostate stem cell antigen is highly expressed in non-small cell lung cancer and may be functionally important for this fatal disease. (PMID:20085909)
- PSCA gene polymorphisms may be associated with gastric cancer in Tibetans. (PMID:20230293)
- Correlation between the level of PSCA expression and tumor growth and suggest a role of PSCA in counteracting the natural immune response.in bladder cancer. (PMID:20374648)
- REVIEW: PSCA seems to be a Jekyll and Hyde molecule that plays differential roles, tumor promoting or suppressing, depending on the cellular context. (PMID:20501618)
- We report the first analysis of PSCA, PIWIL1, and TBX2 expression in EAC. Our findings suggest that PSCA and TBX2 might be candidate targets for cancer therapy. (PMID:20502058)
- prostate stem cell antigen is a marker associated with neoplastic transformation of prostate cells (PMID:20955382)
- Genetic variant in PSCA is associated with diffuse-type gastric cancer. (PMID:21064099)
- The rs2294008 polymorphism in prostate stem cell antigen increases the risk of noncardia gastric cancer and its precursors in white individuals but protects against proximal cancers. (PMID:21070776)
- Data show that the T allele of PSCA rs2294008 is associated with increased risk of gastric cancer. (PMID:21268123)
- Data indicate that RNA silencing of PSCA can inhibit the proliferation and invasiveness properties of prostate cancer PC-3M cells, which may provide a promising therapeutic strategy for prostate cancer. (PMID:21429770)
- Men with the rs1045531 AA genotype of PSCA were at higher risk for prostate cancer. On haplotype analysis CCCAGGTACGG and CGA haplotype carriers showed a significant association with prostate cancer risk (PMID:21497359)
- prostate stem cell antigen is a novel glioma-associated antigen (PMID:21503583)
- This study showed that rs2294008 in the PSCA gene was associated with increased risks of gastric cancer in a Korean population, suggests that rs2294008 might play an important role in gastric carcinogenesis. (PMID:21538581)
- Data indicate that PSA, PSMA, hK2, PSCA, DD3, and their combinations, combined analysis of PSA and/or hK2 expression in pelvic lymph nodes could predict biochemical recurrence free survival (BRFS) following radical prostatectomy (RP). (PMID:21600799)
- results confirm the association between variation in the promoter region of PSCA and GC risk in Caucasians and also indicate that the rs2294008 variant is a similar risk factor for both the diffuse and intestinal-types of GC. (PMID:21681742)
- Integrin alpha(nu) beta(3), NTRS1 and PSCA mRNA expression increased with tumorigenic potential, but mRNA expression levels for these proteins do not translate directly to equivalent expression levels of membrane bound protein. (PMID:21748756)
- PSCA might play an important role in lymph node metastasis in PSCA might play an important role in lymph node metastasis in the breast. Expression of PSCA was correlated with lymph nodes metastasis. (PMID:21914346)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Psca | ENSMUSG00000022598 |
| rattus_norvegicus | Psca | ENSRNOG00000061376 |
Paralogs (2): LY6E (ENSG00000160932), GPIHBP1 (ENSG00000277494)
Protein
Protein identifiers
Prostate stem cell antigen — O43653 (reviewed: O43653)
All UniProt accessions (2): O43653, H0YAA6
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in the regulation of cell proliferation. Has a cell-proliferation inhibition activity in vitro. May act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits nicotine-induced signaling probably implicating alpha-3:beta-2- or alpha-7-containing nAChRs.
Subunit / interactions. Interacts with CHRNA4.
Subcellular location. Cell membrane.
Tissue specificity. Highly expressed in prostate (basal, secretory and neuroendocrine epithelium cells). Also found in bladder (transitional epithelium), placenta (trophoblasts), stomach (neuroendocrine cells), colon (neuroendocrine cells) and kidney (collecting ducts). Overexpressed in prostate cancers and expression is correlated with tumor stage, grade and androgen-independence. Highly expressed in prostate cancer bone metastases. Expressed in gastric epithelial cells, mainly in the isthmus (at protein level). Not detected in normal intestinal epithelium (at protein level). Expressed in brain cortex; expression is significantly increased in the front cortex of Alzheimer disease patients.
Post-translational modifications. N-glycosylated.
Induction. Down-regulated in gastric cancer cells.
Polymorphism. Genetic variations in PSCA may influence susceptibility to some cancers. A polymorphism gives rise to an upstream methionine which produces a longer protein of 123 residues associated with various cancers including diffuse-type gastric cancer and urinary bladder cancer.
RefSeq proteins (1): NP_005663* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016054 | LY6_UPA_recep-like | Domain |
| IPR035076 | Toxin/TOLIP | Domain |
| IPR045860 | Snake_toxin-like_sf | Homologous_superfamily |
| IPR051110 | Ly-6/neurotoxin-like_GPI-ap | Family |
Pfam: PF00087
UniProt features (14 total): disulfide bond 5, sequence variant 2, signal peptide 1, chain 1, sequence conflict 1, propeptide 1, domain 1, lipid moiety-binding region 1, glycosylation site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9U9N | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43653-F1 | 81.93 | 0.58 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 83
Disulfide bonds (5): 78–83, 14–39, 17–26, 32–57, 61–77
Glycosylation sites (1): 31
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-163125 | Post-translational modification: synthesis of GPI-anchored proteins |
MSigDB gene sets: 149 (showing top):
GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_CELL_CELL_SIGNALING, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, BROWNE_HCMV_INFECTION_48HR_DN, MODULE_379, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_SYNAPTIC_SIGNALING, GOBP_RESPONSE_TO_ACETYLCHOLINE, MODULE_6, GOBP_REGULATION_OF_NEUROTRANSMITTER_RECEPTOR_ACTIVITY
GO Biological Process (3): negative regulation of ERK1 and ERK2 cascade (GO:0070373), acetylcholine receptor signaling pathway (GO:0095500), regulation of neurotransmitter receptor activity (GO:0099601)
GO Molecular Function (2): acetylcholine receptor regulator activity (GO:0030548), acetylcholine receptor binding (GO:0033130)
GO Cellular Component (6): extracellular region (GO:0005576), plasma membrane (GO:0005886), synapse (GO:0045202), extracellular exosome (GO:0070062), side of membrane (GO:0098552), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| acetylcholine receptor activity | 2 |
| membrane | 2 |
| negative regulation of MAPK cascade | 1 |
| ERK1 and ERK2 cascade | 1 |
| regulation of ERK1 and ERK2 cascade | 1 |
| postsynaptic signal transduction | 1 |
| cellular response to acetylcholine | 1 |
| regulation of signaling receptor activity | 1 |
| neurotransmitter receptor activity | 1 |
| neurotransmitter receptor regulator activity | 1 |
| signaling receptor binding | 1 |
| cell periphery | 1 |
| cell junction | 1 |
| extracellular vesicle | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
1266 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PSCA | FOLH1 | Q04609 | 910 |
| PSCA | LY6E | Q16553 | 896 |
| PSCA | KLK3 | P07288 | 777 |
| PSCA | STEAP1 | Q9UHE8 | 751 |
| PSCA | MUC6 | Q6W4X9 | 719 |
| PSCA | MSLN | Q13421 | 703 |
| PSCA | NAT1 | P18440 | 673 |
| PSCA | MUC1 | P13931 | 665 |
| PSCA | CYP2E1 | P05181 | 644 |
| PSCA | LYNX1 | P0DP58 | 605 |
| PSCA | JRK | O75564 | 602 |
| PSCA | CD247 | P20963 | 577 |
| PSCA | KLF6 | Q99612 | 572 |
| PSCA | TYROBP | O43914 | 561 |
| PSCA | SLURP1 | P55000 | 551 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSCA | ITGA6 | psi-mi:“MI:0914”(association) | 0.530 |
| PSCA | CHRNA4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ECE1 | PSCA | psi-mi:“MI:0915”(physical association) | 0.370 |
| TEX101 | GGT3P | psi-mi:“MI:0914”(association) | 0.350 |
| PSCA | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| PSCA | GPAA1 | psi-mi:“MI:0914”(association) | 0.350 |
ESM2 similar proteins: B3MFC2, B3NSF6, B4QBL6, B5A5T4, B5E022, D3ZTT2, D4A6L0, H3BQJ8, O43653, P12645, P19438, P22444, P23352, P46657, P49002, P50555, P57096, P58658, P58659, Q16553, Q1RMB5, Q28216, Q32LD3, Q505J3, Q568T5, Q5R510, Q5T848, Q66IA6, Q68US5, Q6UWL2, Q6UWN0, Q6UX15, Q6WN34, Q80XH4, Q86Y78, Q8BHE5, Q8BPP5, Q8BVP6, Q8C351, Q8C419
Diamond homologs: O43653, P0DP58, P57096, Q16553, Q6UXB3, Q90986, P0DP60, P0DP62, Q1RMQ4, Q5IS42, Q5IS87, Q64253, Q9DD23, A0JNB3, O94772, P05533, Q4R5M8, Q9WUC3, P0DP57, P0DP61, P55000, Q9Z0K7, A0A346CIB2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
431 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:142681324:CA:C | acceptor_loss | 1.0000 |
| 8:142681435:G:GG | donor_gain | 1.0000 |
| 8:142681461:GCC:G | donor_gain | 1.0000 |
| 8:142680559:GCCAG:G | donor_gain | 0.9900 |
| 8:142680561:CAGG:C | donor_loss | 0.9900 |
| 8:142680562:AGG:A | donor_loss | 0.9900 |
| 8:142680563:GGTGA:G | donor_loss | 0.9900 |
| 8:142680564:G:GA | donor_loss | 0.9900 |
| 8:142681325:A:AG | acceptor_gain | 0.9900 |
| 8:142681325:AG:A | acceptor_gain | 0.9900 |
| 8:142681326:G:GT | acceptor_gain | 0.9900 |
| 8:142681326:GG:G | acceptor_gain | 0.9900 |
| 8:142681326:GGC:G | acceptor_gain | 0.9900 |
| 8:142681326:GGCA:G | acceptor_gain | 0.9900 |
| 8:142681326:GGCAC:G | acceptor_gain | 0.9900 |
| 8:142681409:G:T | donor_gain | 0.9900 |
| 8:142681432:TCC:T | donor_gain | 0.9900 |
| 8:142681409:G:GT | donor_gain | 0.9800 |
| 8:142681433:CC:C | donor_gain | 0.9800 |
| 8:142681915:CCCCA:C | acceptor_loss | 0.9800 |
| 8:142681918:CAG:C | acceptor_loss | 0.9800 |
| 8:142681919:A:G | acceptor_loss | 0.9800 |
| 8:142681319:C:G | acceptor_gain | 0.9600 |
| 8:142681430:CATCC:C | donor_gain | 0.9600 |
| 8:142681433:CCGTG:C | donor_loss | 0.9600 |
| 8:142681434:CG:C | donor_loss | 0.9600 |
| 8:142681436:TGA:T | donor_loss | 0.9600 |
| 8:142681437:G:GA | donor_loss | 0.9600 |
| 8:142681438:A:AA | donor_loss | 0.9600 |
| 8:142681439:G:A | donor_loss | 0.9600 |
AlphaMissense
728 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:142681951:A:T | K55I | 0.996 |
| 8:142681952:A:C | K55N | 0.995 |
| 8:142681952:A:T | K55N | 0.995 |
| 8:142682039:C:A | N84K | 0.977 |
| 8:142682039:C:G | N84K | 0.977 |
| 8:142681341:T:A | C14S | 0.974 |
| 8:142681342:G:C | C14S | 0.974 |
| 8:142681425:G:C | A42P | 0.974 |
| 8:142681951:A:C | K55T | 0.974 |
| 8:142682034:T:A | C83S | 0.973 |
| 8:142682035:G:C | C83S | 0.973 |
| 8:142681953:G:T | G56C | 0.971 |
| 8:142681956:T:A | C57S | 0.971 |
| 8:142681957:G:C | C57S | 0.971 |
| 8:142681377:T:A | C26S | 0.966 |
| 8:142681378:G:C | C26S | 0.966 |
| 8:142681379:C:G | C26W | 0.966 |
| 8:142681416:T:A | C39S | 0.963 |
| 8:142681417:G:C | C39S | 0.963 |
| 8:142681351:G:A | C17Y | 0.961 |
| 8:142681418:C:G | C39W | 0.961 |
| 8:142681950:A:G | K55E | 0.960 |
| 8:142681350:T:A | C17S | 0.958 |
| 8:142681351:G:C | C17S | 0.958 |
| 8:142682035:G:A | C83Y | 0.957 |
| 8:142682038:A:T | N84I | 0.957 |
| 8:142681968:T:A | C61S | 0.954 |
| 8:142681969:G:C | C61S | 0.954 |
| 8:142681377:T:C | C26R | 0.951 |
| 8:142681343:C:G | C14W | 0.950 |
dbSNP variants (sampled 300 via entrez): RS1000432315 (8:142669360 C>A,T), RS1000484877 (8:142669533 G>A,C), RS1000816882 (8:142668456 T>C), RS1000893130 (8:142674397 C>A), RS1001018207 (8:142679937 G>A), RS1001241839 (8:142674219 T>C), RS1001442316 (8:142670742 T>C), RS1001617237 (8:142676733 T>C), RS1001843625 (8:142675348 T>A), RS1002359563 (8:142675043 C>T), RS1002628374 (8:142677807 G>A), RS1003102228 (8:142682996 A>C), RS1003679885 (8:142672558 A>C), RS1004287517 (8:142669292 G>A), RS1004794190 (8:142673620 G>A,T)
Disease associations
OMIM: gene MIM:602470 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000454_1 | Bladder cancer | 2.000000e-10 |
| GCST000842_8 | Bladder cancer | 4.000000e-11 |
| GCST001433_2 | Duodenal ulcer | 2.000000e-33 |
| GCST002240_6 | Bladder cancer | 3.000000e-15 |
| GCST002990_7 | Gastric adenocarcinoma (histologically verified) | 1.000000e-06 |
| GCST002992_7 | Gastric cancer | 2.000000e-07 |
| GCST003218_4 | Non-cardia gastric cancer | 6.000000e-11 |
| GCST004075_16 | Vertical cup-disc ratio | 3.000000e-06 |
| GCST004075_17 | Vertical cup-disc ratio | 5.000000e-09 |
| GCST005012_24 | Urinary tract infection frequency | 3.000000e-10 |
| GCST008062_37 | Blood urea nitrogen levels | 5.000000e-09 |
| GCST008712_4 | Pepsinogen I/II ratio | 4.000000e-27 |
| GCST008713_1 | Severe gastric atrophy | 2.000000e-13 |
| GCST008714_1 | Gastric atrophy | 4.000000e-11 |
| GCST009462_99 | Optic disc size | 5.000000e-08 |
| GCST009872_2 | Bladder cancer | 5.000000e-06 |
| GCST010956_1 | Gastric cancer | 2.000000e-13 |
| GCST011769_17 | Schizophrenia | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0010149 | pepsinogen I/II ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3712961 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | decreases expression, affects cotreatment, increases expression | 5 |
| bisphenol A | decreases expression, increases expression | 3 |
| sodium arsenite | increases expression, decreases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression, increases reaction, decreases expression | 3 |
| Cadmium Chloride | decreases expression, increases expression | 3 |
| Air Pollutants | increases abundance, affects expression, decreases expression | 2 |
| Smoke | decreases expression, increases expression | 2 |
| Luteolin | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| kaempferol | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| arsenite | decreases methylation | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| myricetin | decreases expression | 1 |
| chrysin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| acyline | decreases expression | 1 |
| bisphenol B | decreases expression | 1 |
| abrine | increases expression | 1 |
| 4-OH-2’,3,3’,4’,5’-pentachlorobiphenyl | decreases reaction, increases expression | 1 |
| bisphenol Z | decreases expression | 1 |
| bisphenol S | decreases expression | 1 |
| bisphenol AF | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2CC | Abcam HeLa PSCA 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 atrophic gastritis, duodenal ulcer, gastric adenocarcinoma, gastric carcinoma, urinary bladder carcinoma