TSPAN15
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Also known as NET-7
Summary
TSPAN15 (tetraspanin 15, HGNC:23298) is a protein-coding gene on chromosome 10q22.1, encoding Tetraspanin-15 (O95858). 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. The use of alternate polyadenylation sites has been found for this gene.
Source: NCBI Gene 23555 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 66 total
- MANE Select transcript:
NM_012339
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23298 |
| Approved symbol | TSPAN15 |
| Name | tetraspanin 15 |
| Location | 10q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NET-7 |
| Ensembl gene | ENSG00000099282 |
| Ensembl biotype | protein_coding |
| OMIM | 613140 |
| Entrez | 23555 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 14 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron
ENST00000373290, ENST00000452130, ENST00000459981, ENST00000470508, ENST00000475069, ENST00000478112, ENST00000486093, ENST00000490083, ENST00000858299, ENST00000858300, ENST00000858301, ENST00000858302, ENST00000858303, ENST00000858304, ENST00000954128, ENST00000954129, ENST00000954130, ENST00000954131, ENST00000954132, ENST00000954133
RefSeq mRNA: 2 — MANE Select: NM_012339
NM_001351263, NM_012339
CCDS: CCDS7294
Canonical transcript exons
ENST00000373290 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000638708 | 69483691 | 69483876 |
| ENSE00001186450 | 69506829 | 69507666 |
| ENSE00001886704 | 69451465 | 69451690 |
| ENSE00003500682 | 69485141 | 69485215 |
| ENSE00003526702 | 69506124 | 69506240 |
| ENSE00003579638 | 69504438 | 69504485 |
| ENSE00003679864 | 69495594 | 69495689 |
| ENSE00003685116 | 69498280 | 69498396 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 96.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.2448 / max 298.1186, expressed in 1343 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 105348 | 21.0821 | 1342 |
| 105349 | 1.0767 | 402 |
| 105350 | 0.0859 | 49 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibial nerve | UBERON:0001323 | 96.89 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.73 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.43 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.36 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.31 | gold quality |
| rectum | UBERON:0001052 | 96.24 | gold quality |
| spinal cord | UBERON:0002240 | 95.91 | gold quality |
| transverse colon | UBERON:0001157 | 95.87 | gold quality |
| body of stomach | UBERON:0001161 | 95.75 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.17 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.99 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.55 | gold quality |
| stomach | UBERON:0000945 | 94.46 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.43 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.35 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.35 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.27 | gold quality |
| lower esophagus | UBERON:0013473 | 94.27 | gold quality |
| corpus callosum | UBERON:0002336 | 94.13 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 93.97 | gold quality |
| omental fat pad | UBERON:0010414 | 93.93 | gold quality |
| fundus of stomach | UBERON:0001160 | 93.91 | gold quality |
| peritoneum | UBERON:0002358 | 93.90 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 93.87 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.69 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 93.61 | gold quality |
| colon | UBERON:0001155 | 93.60 | gold quality |
| gall bladder | UBERON:0002110 | 93.45 | gold quality |
| sural nerve | UBERON:0015488 | 93.39 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.24 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-11 | yes | 26.97 |
| E-MTAB-5061 | yes | 26.24 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): F2RL1
miRNA regulators (miRDB)
20 targeting TSPAN15, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-642A-5P | 99.51 | 65.10 | 1152 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-31-5P | 98.58 | 68.35 | 1239 |
| HSA-MIR-4665-5P | 97.91 | 67.69 | 1536 |
| HSA-MIR-558 | 97.50 | 67.16 | 977 |
| HSA-MIR-6890-3P | 97.50 | 65.71 | 997 |
| HSA-MIR-6857-3P | 96.70 | 65.43 | 915 |
| HSA-MIR-4296 | 96.35 | 63.55 | 1233 |
| HSA-MIR-4749-5P | 92.16 | 62.26 | 179 |
| HSA-MIR-4706 | 89.76 | 60.23 | 156 |
Literature-anchored findings (GeneRIF, showing 6)
- Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism. (PMID:25772935)
- TSPAN15 interacts with BTRC to promote oesophageal squamous cell carcinoma metastasis via activating NF-kappaB signaling. (PMID:29650964)
- Tspan15 is a new stemness-related marker in hepatocellular carcinoma which exhibits high potential of tumor growth and recurrence. (PMID:31390680)
- Overexpression of Tspan15 positively regulates development of OSCC. (PMID:31518558)
- The tetraspanin Tspan15 is an essential subunit of an ADAM10 scissor complex. (PMID:32111735)
- Crystal structure of the Tspan15 LEL domain reveals a conserved ADAM10 binding site. (PMID:34739841)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tspan15 | ENSDARG00000039455 |
| mus_musculus | Tspan15 | ENSMUSG00000037031 |
| rattus_norvegicus | Tspan15 | ENSRNOG00000046204 |
Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), 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), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)
Protein
Protein identifiers
Tetraspanin-15 — O95858 (reviewed: O95858)
Alternative names: Tetraspan NET-7, Transmembrane 4 superfamily member 15
All UniProt accessions (2): O95858, H7C285
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 CDH2. Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity.
Subunit / interactions. Interacts with ADAM10; the interaction influences ADAM10 substrate specificity, endocytosis and turnover.
Subcellular location. Cell membrane. Late endosome membrane.
Post-translational modifications. Palmitoylated.
Similarity. Belongs to the tetraspanin (TM4SF) family.
RefSeq proteins (2): NP_001338192, NP_036471* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000301 | Tetraspanin_animals | Family |
| IPR008952 | Tetraspanin_EC2_sf | Homologous_superfamily |
| IPR018499 | Tetraspanin/Peripherin | Family |
Pfam: PF00335
UniProt features (41 total): helix 10, topological domain 5, turn 5, disulfide bond 4, mutagenesis site 4, transmembrane region 4, strand 4, glycosylation site 3, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7RDB | X-RAY DIFFRACTION | 2.52 |
| 8ESV | ELECTRON MICROSCOPY | 3.3 |
| 7RD5 | X-RAY DIFFRACTION | 3.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95858-F1 | 88.14 | 0.75 |
Antibody-complex structures (SAbDab): 2 — 7RD5, 8ESV
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): 154–219, 155–185, 171–179, 186–198
Glycosylation sites (3): 118, 189, 230
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 166–169 | alsmost abolishes interaction with adam10. decreases maturation of adam10 and cdh2/n-cadherin cleavage. |
| 193–196 | no effect on interaction with adam10. decreases maturation of adam10. no effect on cdh2/n-cadherin cleavage. |
| 204–206 | no effect on interaction with adam10. no effect on maturation of adam10. no effect on cdh2/n-cadherin cleavage. |
| 288–291 | strongly reduces palmitoylation levels. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-977225 | Amyloid fiber formation |
MSigDB gene sets: 122 (showing top):
GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOCC_CELL_SURFACE, CHANDRAN_METASTASIS_DN, GOBP_NEGATIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_PROTEIN_MATURATION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_MEMBRANE_PROTEIN_ECTODOMAIN_PROTEOLYSIS, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GOBP_MEMBRANE_PROTEIN_ECTODOMAIN_PROTEOLYSIS, AIGNER_ZEB1_TARGETS, GOBP_MEMBRANE_PROTEIN_PROTEOLYSIS
GO Biological Process (4): negative regulation of Notch signaling pathway (GO:0045746), regulation of membrane protein ectodomain proteolysis (GO:0051043), protein maturation (GO:0051604), protein localization to plasma membrane (GO:0072659)
GO Molecular Function (2): enzyme binding (GO:0019899), protein binding (GO:0005515)
GO Cellular Component (10): endoplasmic reticulum lumen (GO:0005788), cytosol (GO:0005829), plasma membrane (GO:0005886), cell surface (GO:0009986), nuclear body (GO:0016604), cell junction (GO:0030054), late endosome membrane (GO:0031902), tetraspanin-enriched microdomain (GO:0097197), endosome (GO:0005768), 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 | 5 |
| Notch signaling pathway | 1 |
| regulation of Notch signaling pathway | 1 |
| negative 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 |
| protein binding | 1 |
| binding | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
| plasma membrane | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
576 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSPAN15 | ADAM10 | O14672 | 802 |
| TSPAN15 | SLC44A2 | Q8IWA5 | 662 |
| TSPAN15 | TSPAN12 | O95859 | 615 |
| TSPAN15 | PTGFRN | Q9P2B2 | 596 |
| TSPAN15 | CD9 | P21926 | 592 |
| TSPAN15 | ITGB1 | P05556 | 553 |
| TSPAN15 | BTRC | Q9Y297 | 511 |
| TSPAN15 | TSPAN13 | O95857 | 500 |
| TSPAN15 | FGG | P02679 | 492 |
| TSPAN15 | CD44 | P16070 | 474 |
| TSPAN15 | B3GNT3 | Q9Y2A9 | 465 |
| TSPAN15 | TSPAN31 | Q12999 | 443 |
| TSPAN15 | GP6 | Q9HCN6 | 407 |
| TSPAN15 | PROCR | Q9UNN8 | 395 |
| TSPAN15 | CD81 | P18582 | 395 |
IntAct
90 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSPAN15 | ADAM10 | psi-mi:“MI:0914”(association) | 0.840 |
| ADAM10 | TSPAN15 | psi-mi:“MI:0915”(physical association) | 0.840 |
| TSPAN15 | ADAM10 | psi-mi:“MI:0915”(physical association) | 0.840 |
| ADAM10 | TSPAN15 | psi-mi:“MI:0403”(colocalization) | 0.840 |
| CD9 | ADAM10 | psi-mi:“MI:0914”(association) | 0.750 |
| SYNE4 | TSPAN15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN15 | GYPC | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN15 | STRIT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC7A1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| C3AR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| GYPB | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| FZD10 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN2 | TSPAN3 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| EMC6 | EMC8 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN5 | SC5D | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (302): SYNE4 (Two-hybrid), ADAM10 (Affinity Capture-Western), TSPAN15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS), TSPAN15 (Synthetic Lethality), TSPAN15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS)
ESM2 similar proteins: A0A8M2B5N2, A0A8V0ZLT4, A1L157, F7BWT7, O35566, O60636, O60637, O75841, O95858, P11049, P20274, P21926, P30413, P30932, P31053, P38573, P40239, P40240, P40241, P48509, P54825, P55344, P56563, P61170, P61171, Q1JQA4, Q2KHY8, Q3SZR9, Q3ZBH3, Q566D0, Q58CY8, Q5RE11, Q61470, Q6GQF5, Q6GR34, Q6IP19, Q6PBE5, Q6PFT6, Q7SZ07, Q80WR1
Diamond homologs: F7BWT7, O95858, P62079, P62080, Q0VC33, Q17QJ5, Q1JQA4, Q3SYV5, Q4V8E0, Q58DN3, Q5RH71, Q68VK5, Q6GQF5, Q86UF1, Q8NG11, Q8QZY6, Q8R3S2, Q96FV3, Q9D7W4, O42281, O42282, O42581, O42582, O42583, P15499, P17438, P17810, P23942, P32958, P35906, P48509, P52204, P52205, P61170, P61171, Q03395, Q3ZBH3, Q5PPM7, Q9QZA6, A0A8V0ZLT4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| F2RL1 | “down-regulates quantity by repression” | TSPAN15 | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 97 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 |
|---|---|---|---|
| Class A/1 (Rhodopsin-like receptors) | 8 | 10.4× | 7e-05 |
| GPCR ligand binding | 9 | 10.1× | 5e-05 |
| G alpha (q) signalling events | 9 | 9.1× | 6e-05 |
| Signaling by GPCR | 9 | 6.3× | 6e-04 |
| GPCR downstream signalling | 7 | 5.3× | 1e-02 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| phospholipase C-activating G protein-coupled receptor signaling pathway | 7 | 11.0× | 1e-03 |
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | 7 | 9.4× | 2e-03 |
| G protein-coupled receptor signaling pathway | 12 | 5.2× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1874 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:69451689:GG:G | donor_gain | 1.0000 |
| 10:69451690:GG:G | donor_gain | 1.0000 |
| 10:69483683:T:TA | acceptor_gain | 1.0000 |
| 10:69483686:T:A | acceptor_gain | 1.0000 |
| 10:69483686:TGCA:T | acceptor_loss | 1.0000 |
| 10:69483687:GCA:G | acceptor_loss | 1.0000 |
| 10:69483688:CAG:C | acceptor_loss | 1.0000 |
| 10:69483689:A:AC | acceptor_loss | 1.0000 |
| 10:69483689:A:AG | acceptor_gain | 1.0000 |
| 10:69483689:AGCT:A | acceptor_gain | 1.0000 |
| 10:69483690:G:GA | acceptor_gain | 1.0000 |
| 10:69483690:GC:G | acceptor_gain | 1.0000 |
| 10:69483690:GCT:G | acceptor_gain | 1.0000 |
| 10:69483690:GCTG:G | acceptor_gain | 1.0000 |
| 10:69483690:GCTGA:G | acceptor_gain | 1.0000 |
| 10:69483872:AAGCA:A | donor_gain | 1.0000 |
| 10:69483873:AGCA:A | donor_gain | 1.0000 |
| 10:69483874:GCA:G | donor_gain | 1.0000 |
| 10:69483874:GCAG:G | donor_gain | 1.0000 |
| 10:69483876:AGT:A | donor_loss | 1.0000 |
| 10:69483877:G:GG | donor_gain | 1.0000 |
| 10:69483877:GT:G | donor_loss | 1.0000 |
| 10:69485139:A:AG | acceptor_gain | 1.0000 |
| 10:69485140:G:GG | acceptor_gain | 1.0000 |
| 10:69495593:GACC:G | acceptor_gain | 1.0000 |
| 10:69495686:AAAGG:A | donor_loss | 1.0000 |
| 10:69495687:AAGG:A | donor_loss | 1.0000 |
| 10:69495688:AGG:A | donor_loss | 1.0000 |
| 10:69495690:G:C | donor_loss | 1.0000 |
| 10:69504436:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
1929 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:69498315:G:C | W163C | 1.000 |
| 10:69498315:G:T | W163C | 1.000 |
| 10:69498286:T:C | C154R | 0.999 |
| 10:69498290:G:A | C155Y | 0.999 |
| 10:69498313:T:A | W163R | 0.999 |
| 10:69498313:T:C | W163R | 0.999 |
| 10:69506160:T:C | C219R | 0.999 |
| 10:69506161:G:A | C219Y | 0.999 |
| 10:69483802:G:C | G70R | 0.998 |
| 10:69498286:T:A | C154S | 0.998 |
| 10:69498287:G:C | C154S | 0.998 |
| 10:69498288:C:G | C154W | 0.998 |
| 10:69498289:T:A | C155S | 0.998 |
| 10:69498289:T:C | C155R | 0.998 |
| 10:69498290:G:C | C155S | 0.998 |
| 10:69498291:T:G | C155W | 0.998 |
| 10:69498324:T:A | N166K | 0.998 |
| 10:69498324:T:G | N166K | 0.998 |
| 10:69498379:T:C | C185R | 0.998 |
| 10:69498380:G:A | C185Y | 0.998 |
| 10:69498381:C:G | C185W | 0.998 |
| 10:69498382:T:A | C186S | 0.998 |
| 10:69498383:G:C | C186S | 0.998 |
| 10:69504459:T:A | C198S | 0.998 |
| 10:69504460:G:C | C198S | 0.998 |
| 10:69506157:G:T | G218C | 0.998 |
| 10:69506160:T:A | C219S | 0.998 |
| 10:69506161:G:C | C219S | 0.998 |
| 10:69506162:C:G | C219W | 0.998 |
| 10:69483718:G:C | G42R | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000039404 (10:69536795 A>G), RS1000043368 (10:69493103 A>G), RS1000052664 (10:69548368 A>G), RS1000108204 (10:69542406 A>G), RS1000111684 (10:69453780 C>T), RS1000123409 (10:69454103 A>G), RS1000154766 (10:69496056 G>A,C), RS1000164709 (10:69541918 T>G), RS1000210393 (10:69508396 A>C,T), RS1000212100 (10:69459909 A>G), RS1000214459 (10:69542089 G>A), RS1000283941 (10:69547794 C>T), RS1000290173 (10:69465476 T>A,G), RS1000290393 (10:69463729 G>C), RS1000329910 (10:69503794 C>T)
Disease associations
OMIM: gene MIM:613140 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001694_6 | Response to taxane treatment (paclitaxel) | 6.000000e-07 |
| GCST002808_2 | Venous thromboembolism | 2.000000e-16 |
| GCST003390_9 | Thrombosis | 3.000000e-07 |
| GCST004256_9 | Venous thromboembolism | 2.000000e-07 |
| GCST008839_343 | Height | 8.000000e-09 |
| GCST009030_14 | Venous thromboembolism | 3.000000e-30 |
| GCST009097_6 | Venous thromboembolism | 2.000000e-55 |
| GCST010118_183 | Type 2 diabetes | 2.000000e-11 |
| GCST010396_218 | Gut microbiota (bacterial taxa, hurdle binary method) | 4.000000e-06 |
| GCST90002385_482 | High light scatter reticulocyte count | 1.000000e-17 |
| GCST90002386_403 | High light scatter reticulocyte percentage of red cells | 6.000000e-18 |
| GCST90002387_359 | Immature fraction of reticulocytes | 1.000000e-12 |
| GCST90002405_262 | Reticulocyte count | 5.000000e-15 |
| GCST90002406_301 | Reticulocyte fraction of red cells | 1.000000e-15 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003907 | deep vein thrombosis |
| EFO:0007874 | gut microbiome measurement |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 3 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| lasiocarpine | increases expression | 1 |
| methyleugenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| 2,3,4,5-tetrachlorophenate | affects response to substance | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| entinostat | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Ketoconazole | decreases expression | 1 |
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): pulmonary embolism, stroke disorder, venous thromboembolism