TSPAN5
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Also known as Tspan-5NET-4
Summary
TSPAN5 (tetraspanin 5, HGNC:17753) is a protein-coding gene on chromosome 4q23, encoding Tetraspanin-5 (P62079). Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10.
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility.
Source: NCBI Gene 10098 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 29 total
- MANE Select transcript:
NM_005723
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17753 |
| Approved symbol | TSPAN5 |
| Name | tetraspanin 5 |
| Location | 4q23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Tspan-5, NET-4 |
| Ensembl gene | ENSG00000168785 |
| Ensembl biotype | protein_coding |
| OMIM | 613136 |
| Entrez | 10098 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 12 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000305798, ENST00000505184, ENST00000507167, ENST00000508798, ENST00000509168, ENST00000511651, ENST00000511753, ENST00000511800, ENST00000515287, ENST00000515440, ENST00000852740, ENST00000852741, ENST00000852742, ENST00000935828, ENST00000935829, ENST00000935830, ENST00000935831, ENST00000951778
RefSeq mRNA: 1 — MANE Select: NM_005723
NM_005723
CCDS: CCDS3646
Canonical transcript exons
ENST00000305798 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001232858 | 98658146 | 98658611 |
| ENSE00003484879 | 98476189 | 98476305 |
| ENSE00003513334 | 98486738 | 98486884 |
| ENSE00003546857 | 98478685 | 98478810 |
| ENSE00003578154 | 98476413 | 98476460 |
| ENSE00003590360 | 98507678 | 98507728 |
| ENSE00003647635 | 98470367 | 98472587 |
| ENSE00003648638 | 98482005 | 98482175 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 99.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.7186 / max 447.4683, expressed in 1513 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 53221 | 21.5488 | 1512 |
| 53219 | 0.9856 | 390 |
| 53220 | 0.8526 | 534 |
| 53222 | 0.1179 | 50 |
| 53218 | 0.1078 | 32 |
| 53223 | 0.1058 | 20 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.10 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.67 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 98.65 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.30 | gold quality |
| ventricular zone | UBERON:0003053 | 98.11 | gold quality |
| paraflocculus | UBERON:0005351 | 97.56 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.12 | gold quality |
| pons | UBERON:0000988 | 97.03 | gold quality |
| frontal pole | UBERON:0002795 | 96.63 | gold quality |
| corpus callosum | UBERON:0002336 | 96.46 | gold quality |
| oocyte | CL:0000023 | 96.39 | gold quality |
| cerebellum | UBERON:0002037 | 96.39 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.39 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.34 | gold quality |
| primary visual cortex | UBERON:0002436 | 96.33 | gold quality |
| occipital lobe | UBERON:0002021 | 96.04 | gold quality |
| cortical plate | UBERON:0005343 | 95.77 | gold quality |
| buccal mucosa cell | CL:0002336 | 95.76 | gold quality |
| endothelial cell | CL:0000115 | 95.75 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.64 | gold quality |
| parietal lobe | UBERON:0001872 | 95.55 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.44 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.34 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.18 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.11 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.94 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.59 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.36 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.25 | gold quality |
| frontal cortex | UBERON:0001870 | 94.14 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10042 | yes | 27.17 |
| E-CURD-119 | yes | 22.85 |
| E-MTAB-9221 | yes | 13.86 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
115 targeting TSPAN5, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
Literature-anchored findings (GeneRIF, showing 9)
- Tspan5 may serve as a prognostic biomarker for predicting outcome of gastric cancer patients. Tspan5 functions as a tumour suppressor in stomach to control the tumour growth. (PMID:27223087)
- two TspanC8-specific motifs in the large extracellular domain of Tspan5 that are important for ADAM10 interaction and exit from the endoplasmic reticulum. One of the anti-Tspan5 mAbs does not recognize Tspan5 associated with ADAM10, providing a convenient way to measure the fraction of Tspan5 not associated with ADAM10. (PMID:28428248)
- Endothelial Tspan5- and Tspan17-ADAM10 complexes may regulate inflammation by maintaining normal VE-cadherin expression and promoting T lymphocyte transmigration. (PMID:28600292)
- intensity in villi in tubal pregnancy was significantly higher than that in normal intrauterine pregnancy (PMID:29908376)
- TSPAN5 Enriched Microdomains Provide a Platform for Dendritic Spine Maturation through Neuroligin-1 Clustering. (PMID:31665629)
- Data show that gene tetraspanin-5 (TSPAN5) is the target of miR-155 in breast cancer (BC). (PMID:32096299)
- TSPAN5 influences serotonin and kynurenine: pharmacogenomic mechanisms related to alcohol use disorder and acamprosate treatment response. (PMID:32753686)
- Tspan5 promotes epithelial-mesenchymal transition and tumour metastasis of hepatocellular carcinoma by activating Notch signalling. (PMID:33955149)
- The relationship between expression of Tspan5 mRNA in maternal-fetal interface and tubal pregnancy. (PMID:38422804)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tspan5 | ENSMUSG00000028152 |
| rattus_norvegicus | Tspan5 | ENSRNOG00000015913 |
Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), CD37 (ENSG00000104894), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), TSPAN14 (ENSG00000108219), CD81 (ENSG00000110651), TSPAN11 (ENSG00000110900), PRPH2 (ENSG00000112619), UPK1B (ENSG00000114638), TSPAN1 (ENSG00000117472), TSPAN8 (ENSG00000127324), TSPAN16 (ENSG00000130167), TSPAN2 (ENSG00000134198), CD63 (ENSG00000135404), TSPAN31 (ENSG00000135452), TSPAN3 (ENSG00000140391), CD53 (ENSG00000143119), ROM1 (ENSG00000149489), TSPAN7 (ENSG00000156298), TSPAN18 (ENSG00000157570), TSPAN33 (ENSG00000158457), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)
Protein
Protein identifiers
Tetraspanin-5 — P62079 (reviewed: P62079)
Alternative names: Tetraspan NET-4, Transmembrane 4 superfamily member 9
All UniProt accessions (7): B7Z317, D6R9N6, D6RAR1, D6RBT5, D6RGZ7, P62079, H0Y8W4
UniProt curated annotations — full annotation on UniProt →
Function. Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10. This interaction is required for ADAM10 exit from the endoplasmic reticulum and for enzymatic maturation and trafficking to the cell surface as well as substrate specificity. Different TspanC8/ADAM10 complexes have distinct substrates. Promotes ADAM10-mediated cleavage of CD44. Seems to regulate VE-cadherin expression in endothelial cells probably through interaction with ADAM10, promoting leukocyte transmigration.
Subunit / interactions. Interacts with ADAM10; the interaction influences ADAM10 substrate specificity, endocytosis and turnover.
Subcellular location. Cell membrane.
Post-translational modifications. Palmitoylated.
Similarity. Belongs to the tetraspanin (TM4SF) family.
RefSeq proteins (1): NP_005714* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000301 | Tetraspanin_animals | Family |
| IPR008952 | Tetraspanin_EC2_sf | Homologous_superfamily |
| IPR018499 | Tetraspanin/Peripherin | Family |
| IPR018503 | Tetraspanin_CS | Conserved_site |
Pfam: PF00335
UniProt features (19 total): topological domain 5, glycosylation site 4, disulfide bond 4, transmembrane region 4, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P62079-F1 | 89.48 | 0.76 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (4): 153–221, 154–186, 170–180, 187–200
Glycosylation sites (4): 49, 169, 174, 232
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-977225 | Amyloid fiber formation |
MSigDB gene sets: 260 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_POSITIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, CEBPB_01, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GNF2_ANK1, PATIL_LIVER_CANCER, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, GOBP_PROTEIN_MATURATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, BILD_E2F3_ONCOGENIC_SIGNATURE
GO Biological Process (5): positive regulation of Notch signaling pathway (GO:0045747), regulation of membrane protein ectodomain proteolysis (GO:0051043), protein maturation (GO:0051604), protein localization to plasma membrane (GO:0072659), intracellular protein localization (GO:0008104)
GO Molecular Function (2): enzyme binding (GO:0019899), protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), endoplasmic reticulum lumen (GO:0005788), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| Notch signaling pathway | 1 |
| regulation of Notch signaling pathway | 1 |
| positive regulation of signal transduction | 1 |
| membrane protein ectodomain proteolysis | 1 |
| regulation of proteolysis | 1 |
| regulation of protein catabolic process | 1 |
| gene expression | 1 |
| protein metabolic process | 1 |
| protein localization to membrane | 1 |
| protein localization to cell periphery | 1 |
| macromolecule localization | 1 |
| protein binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
808 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSPAN5 | ADAM10 | O14672 | 871 |
| TSPAN5 | ERICH3 | Q5RHP9 | 738 |
| TSPAN5 | TSPAN31 | Q12999 | 567 |
| TSPAN5 | ITGB1 | P05556 | 560 |
| TSPAN5 | TSPAN13 | O95857 | 535 |
| TSPAN5 | CD9 | P21926 | 467 |
| TSPAN5 | TSPAN32 | Q96QS1 | 451 |
| TSPAN5 | TMEM14C | Q9P0S9 | 450 |
| TSPAN5 | STPG2 | Q8N412 | 411 |
| TSPAN5 | EPHB1 | P54762 | 397 |
| TSPAN5 | RPL28 | P46779 | 386 |
| TSPAN5 | IGSF8 | Q969P0 | 375 |
| TSPAN5 | SLCO2A1 | Q92959 | 374 |
| TSPAN5 | PTGFRN | Q9P2B2 | 363 |
| TSPAN5 | ADAM17 | P78536 | 359 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSPAN15 | ADAM10 | psi-mi:“MI:0914”(association) | 0.840 |
| TSPAN5 | ADAM10 | psi-mi:“MI:0914”(association) | 0.800 |
| ADAM10 | TSPAN5 | psi-mi:“MI:0915”(physical association) | 0.800 |
| TSPAN5 | ADAM10 | psi-mi:“MI:0915”(physical association) | 0.800 |
| ADAM10 | TSPAN5 | psi-mi:“MI:0403”(colocalization) | 0.800 |
| CD9 | ADAM10 | psi-mi:“MI:0914”(association) | 0.750 |
| CD151 | ADAM10 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN5 | SC5D | psi-mi:“MI:0914”(association) | 0.530 |
| ADAM10 | TSPAN5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CREB3 | TSPAN5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ADAM10 | TSPAN9 | psi-mi:“MI:0914”(association) | 0.350 |
| ITGA3 | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN5 | KLHL2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (166): ADAM10 (Affinity Capture-Western), TSPAN5 (Affinity Capture-Western), TMEM248 (Affinity Capture-MS), VKORC1L1 (Affinity Capture-MS), TMEM87A (Affinity Capture-MS), ALG8 (Affinity Capture-MS), GDPD1 (Affinity Capture-MS), THAP11 (Affinity Capture-MS), AGPAT4 (Affinity Capture-MS), AGPAT3 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), KLHL2 (Affinity Capture-MS), TMEM186 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS)
ESM2 similar proteins: C3VMW3, D3ZQJ0, O00501, O54942, O88551, O88552, O95471, O95500, O95832, P56745, P56746, P56747, P56748, P56750, P56856, P56857, P57739, P62079, P62080, Q0VCN0, Q17QJ5, Q2HJ22, Q2KIY2, Q3B7N4, Q3MHK4, Q4KL25, Q58DR6, Q5I0E5, Q5PPI7, Q5QT56, Q68VK5, Q6DHP1, Q6L708, Q765P1, Q8BXA6, Q8N6F1, Q8NG11, Q8QZY6, Q8TAF8, Q95KM6
Diamond homologs: A0A8M2B5N2, A0A8V0ZLT4, B0BM39, B3VSC2, B5X3I6, O14817, O60635, O60636, O75954, P11049, P19397, P24485, P30932, P35762, P40240, P62079, P62080, Q06AA5, Q17QJ5, Q22495, Q2KHY8, Q2KIS9, Q3T0S3, Q4R7W6, Q4V8E0, Q568Y5, Q58CY8, Q58DM3, Q5R9S6, Q5RAP3, Q5RC27, Q61451, Q68VK5, Q6AYR9, Q6DCQ3, Q6GMK6, Q80WR1, Q8BJU2, Q8QZY6, Q8R3G9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2234 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:98476183:TCTTA:T | donor_loss | 1.0000 |
| 4:98476184:CTTAC:C | donor_loss | 1.0000 |
| 4:98476186:TA:T | donor_loss | 1.0000 |
| 4:98476187:A:AG | donor_loss | 1.0000 |
| 4:98476302:CTTC:C | acceptor_gain | 1.0000 |
| 4:98476306:C:CC | acceptor_gain | 1.0000 |
| 4:98476309:C:CT | acceptor_gain | 1.0000 |
| 4:98476311:C:CT | acceptor_gain | 1.0000 |
| 4:98476312:A:T | acceptor_gain | 1.0000 |
| 4:98476411:A:AC | donor_gain | 1.0000 |
| 4:98476412:C:CC | donor_gain | 1.0000 |
| 4:98476412:CTG:C | donor_gain | 1.0000 |
| 4:98476412:CTGGT:C | donor_gain | 1.0000 |
| 4:98476457:CTTC:C | acceptor_gain | 1.0000 |
| 4:98476458:TTC:T | acceptor_gain | 1.0000 |
| 4:98476461:C:CC | acceptor_gain | 1.0000 |
| 4:98476464:G:C | acceptor_gain | 1.0000 |
| 4:98476464:G:GC | acceptor_gain | 1.0000 |
| 4:98478683:A:AC | donor_gain | 1.0000 |
| 4:98478684:C:CC | donor_gain | 1.0000 |
| 4:98478684:CTG:C | donor_gain | 1.0000 |
| 4:98481998:AACTT:A | donor_loss | 1.0000 |
| 4:98481999:ACTT:A | donor_loss | 1.0000 |
| 4:98482000:CTT:C | donor_loss | 1.0000 |
| 4:98482001:TTACA:T | donor_loss | 1.0000 |
| 4:98482002:T:TG | donor_loss | 1.0000 |
| 4:98482003:A:AC | donor_gain | 1.0000 |
| 4:98482003:AC:A | donor_loss | 1.0000 |
| 4:98482004:C:CC | donor_gain | 1.0000 |
| 4:98482004:C:CT | donor_loss | 1.0000 |
AlphaMissense
1788 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:98476438:C:G | C200S | 1.000 |
| 4:98476439:A:T | C200S | 1.000 |
| 4:98478701:C:G | C187S | 1.000 |
| 4:98478702:A:T | C187S | 1.000 |
| 4:98478703:G:C | C186W | 1.000 |
| 4:98478704:C:G | C186S | 1.000 |
| 4:98478704:C:T | C186Y | 1.000 |
| 4:98478705:A:G | C186R | 1.000 |
| 4:98478705:A:T | C186S | 1.000 |
| 4:98478713:G:T | P183Q | 1.000 |
| 4:98478757:G:C | F168L | 1.000 |
| 4:98478757:G:T | F168L | 1.000 |
| 4:98478759:A:G | F168L | 1.000 |
| 4:98478766:A:C | N165K | 1.000 |
| 4:98478766:A:T | N165K | 1.000 |
| 4:98478775:C:A | W162C | 1.000 |
| 4:98478775:C:G | W162C | 1.000 |
| 4:98478776:C:G | W162S | 1.000 |
| 4:98478777:A:G | W162R | 1.000 |
| 4:98478777:A:T | W162R | 1.000 |
| 4:98478797:C:T | G155E | 1.000 |
| 4:98478798:C:A | G155W | 1.000 |
| 4:98478799:A:C | C154W | 1.000 |
| 4:98478800:C:T | C154Y | 1.000 |
| 4:98478804:A:G | C153R | 1.000 |
| 4:98486772:C:T | G82E | 1.000 |
| 4:98476220:G:T | A237D | 0.999 |
| 4:98476267:A:C | C221W | 0.999 |
| 4:98476268:C:G | C221S | 0.999 |
| 4:98476268:C:T | C221Y | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000000966 (4:98627369 A>C), RS1000007692 (4:98579287 A>G), RS1000026033 (4:98605605 A>T), RS1000028380 (4:98489911 C>T), RS1000047421 (4:98573709 G>A), RS1000061963 (4:98658911 A>C), RS1000066983 (4:98610416 T>C), RS1000079768 (4:98471407 G>A), RS1000084797 (4:98518092 GACTT>G), RS10000857 (4:98554123 C>A), RS1000089283 (4:98533431 C>T), RS1000103386 (4:98489651 C>T), RS1000103504 (4:98579020 C>G,T), RS1000119246 (4:98616983 C>G), RS1000128440 (4:98484088 A>C,G)
Disease associations
OMIM: gene MIM:613136 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003091_7 | Depressive episodes in bipolar disorder | 9.000000e-06 |
| GCST003518_99 | Daytime sleep phenotypes | 8.000000e-06 |
| GCST004886_1 | Alcohol consumption | 4.000000e-13 |
| GCST007328_12 | Alcohol consumption (drinks per week) | 2.000000e-18 |
| GCST007328_13 | Alcohol consumption (drinks per week) | 9.000000e-18 |
| GCST007621_1 | Sensation seeking | 1.000000e-07 |
| GCST008259_7 | Alcohol use disorder | 3.000000e-09 |
| GCST011176_25 | Stroke | 4.000000e-07 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007704 | depressive episode measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0006946 | behavioural disinhibition measurement |
| EFO:0009458 | alcohol use disorder measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs11947402 | Other | 4 | citalopram;escitalopram | Depressive Disorder |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs11947402 | TSPAN5 | 4 | -0.50 | 1 | citalopram;escitalopram |
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression, affects cotreatment, decreases expression | 7 |
| Benzo(a)pyrene | increases methylation, affects expression, decreases expression | 5 |
| sodium arsenite | affects methylation, affects cotreatment, increases abundance, increases expression, decreases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Air Pollutants | increases abundance, increases oxidation, affects expression, decreases expression, affects cotreatment | 3 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| Estradiol | increases reaction, affects expression, affects cotreatment, increases expression | 3 |
| bisphenol A | decreases expression, affects cotreatment, increases methylation | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Vorinostat | affects cotreatment, decreases expression | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance, affects expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| cupric chloride | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| licochalcone B | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Calcitriol | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcohol dependence, stroke disorder