TSPAN9
gene geneOn this page
Also known as NET-5
Summary
TSPAN9 (tetraspanin 9, HGNC:21640) is a protein-coding gene on chromosome 12p13.33-p13.32, encoding Tetraspanin-9 (O75954).
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. Alternatively spliced transcripts encoding the same protein have been identified.
Source: NCBI Gene 10867 — RefSeq curated summary.
At a glance
- GWAS associations: 35
- Clinical variants (ClinVar): 47 total
- MANE Select transcript:
NM_006675
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21640 |
| Approved symbol | TSPAN9 |
| Name | tetraspanin 9 |
| Location | 12p13.33-p13.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NET-5 |
| Ensembl gene | ENSG00000011105 |
| Ensembl biotype | protein_coding |
| OMIM | 613137 |
| Entrez | 10867 |
Gene structure
Transcript identifiers
Ensembl transcripts: 31 — 27 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000011898, ENST00000407263, ENST00000431374, ENST00000444315, ENST00000492305, ENST00000537971, ENST00000539631, ENST00000640568, ENST00000649909, ENST00000865933, ENST00000865934, ENST00000865935, ENST00000865936, ENST00000865937, ENST00000865938, ENST00000865939, ENST00000865940, ENST00000865941, ENST00000865942, ENST00000865943, ENST00000865944, ENST00000865945, ENST00000865946, ENST00000865947, ENST00000865948, ENST00000865949, ENST00000865950, ENST00000865951, ENST00000865952, ENST00000971277, ENST00000971278
RefSeq mRNA: 2 — MANE Select: NM_006675
NM_001168320, NM_006675
CCDS: CCDS8520
Canonical transcript exons
ENST00000011898 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000713721 | 3281198 | 3281329 |
| ENSE00000713723 | 3281734 | 3281817 |
| ENSE00001158633 | 3201177 | 3201256 |
| ENSE00001265639 | 3083653 | 3083719 |
| ENSE00002214365 | 3283045 | 3286559 |
| ENSE00003464188 | 3278421 | 3278612 |
| ENSE00003506448 | 3278992 | 3279066 |
| ENSE00003602209 | 3280382 | 3280483 |
| ENSE00003848960 | 3077379 | 3077453 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 97.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.9020 / max 382.7136, expressed in 1523 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 123476 | 10.0469 | 1500 |
| 123477 | 1.7911 | 827 |
| 123479 | 1.5378 | 453 |
| 123486 | 0.3960 | 242 |
| 123483 | 0.1185 | 79 |
| 123482 | 0.0118 | 4 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 97.53 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.51 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.39 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.25 | gold quality |
| cerebellum | UBERON:0002037 | 96.63 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.90 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.82 | gold quality |
| cardiac ventricle | UBERON:0002082 | 95.72 | gold quality |
| cardiac atrium | UBERON:0002081 | 95.34 | gold quality |
| heart | UBERON:0000948 | 94.67 | gold quality |
| right lung | UBERON:0002167 | 93.91 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.85 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.65 | gold quality |
| vena cava | UBERON:0004087 | 93.24 | gold quality |
| gall bladder | UBERON:0002110 | 92.98 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.94 | gold quality |
| heart right ventricle | UBERON:0002080 | 91.70 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 91.57 | gold quality |
| body of uterus | UBERON:0009853 | 91.25 | gold quality |
| right ovary | UBERON:0002118 | 91.17 | gold quality |
| left ovary | UBERON:0002119 | 91.06 | gold quality |
| liver | UBERON:0002107 | 91.02 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.59 | gold quality |
| upper lobe of lung | UBERON:0008948 | 90.31 | gold quality |
| endocervix | UBERON:0000458 | 89.88 | gold quality |
| right coronary artery | UBERON:0001625 | 89.70 | gold quality |
| myocardium | UBERON:0002349 | 89.68 | gold quality |
| renal medulla | UBERON:0000362 | 89.57 | gold quality |
| left uterine tube | UBERON:0001303 | 89.50 | gold quality |
| tibial artery | UBERON:0007610 | 89.47 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.13 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXO3
miRNA regulators (miRDB)
152 targeting TSPAN9, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
Literature-anchored findings (GeneRIF, showing 5)
- Findings suggest a role for Tspan9 in regulating platelet function in concert with other platelet tetraspanins and their associated proteins. (PMID:18795891)
- tetraspanin CD9 has a role in determining vascular smooth muscle cell injury phenotypes (PMID:18799160)
- TSPAN9 is an endosomal tetraspanin whose depletion has a pronounced effect on the entry of several viruses that fuse in the early endosome. (PMID:26865714)
- The proliferation, migration and invasion of human gastric cancer SGC7901 cells were significantly inhibited by overexpression of Tspan9. (PMID:27177197)
- expression of the membrane protein TSPAN9 regulates gastric cancer cell migration and invasion by inhibiting the FAK-RAS-ERK1/2 signaling pathway. The extracellular secretory protein EMILIN1 can increase this tumor suppressive effect by promoting the expression of TSPAN9. (PMID:31242895)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tspan9a | ENSDARG00000025299 |
| danio_rerio | tspan9b | ENSDARG00000045706 |
| mus_musculus | Tspan9 | ENSMUSG00000030352 |
| rattus_norvegicus | Tspan9 | ENSRNOG00000051620 |
Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), 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), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)
Protein
Protein identifiers
Tetraspanin-9 — O75954 (reviewed: O75954)
Alternative names: Tetraspan NET-5
All UniProt accessions (5): O75954, A0A1W2PQ04, A0A3B3IST1, B5MD23, E9PHL0
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Found in a complex with GP6.
Subcellular location. Membrane.
Tissue specificity. Expressed in megakaryocytes and platelets (at protein level).
Post-translational modifications. Glycosylated.
Similarity. Belongs to the tetraspanin (TM4SF) family.
RefSeq proteins (2): NP_001161792, NP_006666* (*=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 (12 total): topological domain 5, transmembrane region 4, chain 1, glycosylation site 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75954-F1 | 89.65 | 0.67 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 180
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 212 (showing top):
GOBP_MYELOID_CELL_HOMEOSTASIS, TGCACTT_MIR519C_MIR519B_MIR519A, GCANCTGNY_MYOD_Q6, GOBP_PLATELET_ACTIVATION, TERAMOTO_OPN_TARGETS_CLUSTER_6, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, BROWNE_HCMV_INFECTION_24HR_UP, ACATTCC_MIR1_MIR206, AACTTT_UNKNOWN, GOBP_REGULATION_OF_MITOCHONDRIAL_MEMBRANE_POTENTIAL, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_HOMOTYPIC_CELL_CELL_ADHESION, GOBP_HEMOSTASIS, AML1_01
GO Biological Process (6): neutrophil homeostasis (GO:0001780), collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063), regulation of mitochondrial membrane potential (GO:0051881), platelet aggregation (GO:0070527), receptor diffusion trapping (GO:0098953), mitocytosis (GO:0160040)
GO Molecular Function (1): signaling receptor binding (GO:0005102)
GO Cellular Component (6): plasma membrane (GO:0005886), focal adhesion (GO:0005925), extracellular matrix (GO:0031012), tetraspanin-enriched microdomain (GO:0097197), migrasome (GO:0140494), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| plasma membrane | 2 |
| cellular anatomical structure | 2 |
| leukocyte homeostasis | 1 |
| myeloid cell homeostasis | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| collagen-activated signaling pathway | 1 |
| regulation of membrane potential | 1 |
| platelet activation | 1 |
| homotypic cell-cell adhesion | 1 |
| localization within membrane | 1 |
| mitochondrion distribution | 1 |
| establishment of mitochondrion localization | 1 |
| migracytosis | 1 |
| protein binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-substrate junction | 1 |
| external encapsulating structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
944 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSPAN9 | TSPAN32 | Q96QS1 | 715 |
| TSPAN9 | ITGB1 | P05556 | 595 |
| TSPAN9 | GP6 | Q9HCN6 | 555 |
| TSPAN9 | CD63 | P08962 | 515 |
| TSPAN9 | CD151 | P48509 | 499 |
| TSPAN9 | CD9 | P21926 | 492 |
| TSPAN9 | VWCE | Q96DN2 | 428 |
| TSPAN9 | B4E171 | B4E171 | 418 |
| TSPAN9 | TSPAN14 | Q8NG11 | 418 |
| TSPAN9 | NRIP2 | Q9BQI9 | 414 |
| TSPAN9 | TSPAN2 | O60636 | 410 |
| TSPAN9 | PRMT8 | Q9NR22 | 409 |
| TSPAN9 | TSPAN10 | Q9H1Z9 | 408 |
| TSPAN9 | RIPOR2 | Q9Y4F9 | 403 |
| TSPAN9 | CRACR2A | Q9BSW2 | 401 |
IntAct
13 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 |
| CD9 | ADAM10 | psi-mi:“MI:0914”(association) | 0.750 |
| EVA1B | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| ADAM10 | TSPAN9 | psi-mi:“MI:0914”(association) | 0.350 |
| EVA1B | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| TSC22D3 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| SYT2 | SMAP | psi-mi:“MI:0914”(association) | 0.350 |
| VSIG1 | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (9): TSPAN9 (Affinity Capture-RNA), TSPAN9 (Affinity Capture-MS), TSPAN9 (Affinity Capture-RNA), TSPAN9 (Affinity Capture-RNA), TSPAN9 (Affinity Capture-MS), TSPAN9 (Affinity Capture-MS), TSPAN9 (Affinity Capture-MS), TSPAN9 (Affinity Capture-RNA), TSPAN9 (Affinity Capture-RNA)
ESM2 similar proteins: B0BM39, B3VSC2, B5X3I6, F7BWT7, O14494, O14817, O35566, O42602, O42603, O43688, O60636, O62772, O75954, O88956, O95857, O95858, P35353, P47866, P48509, P60588, Q01453, Q06AA5, Q13324, Q3SYV5, Q3ZBV0, Q4L208, Q5RAP3, Q5RAZ3, Q5ZJ75, Q60748, Q6DCQ3, Q6GMK6, Q6WL85, Q86UF1, Q8BJU2, Q8K593, Q8R3S2, Q8R4D1, Q90812, Q91ZH7
Diamond homologs: A0A8M2B5N2, A0A8V0ZLT4, B0BM39, B3VSC2, B5X3I6, O14817, O60635, O75954, O97703, P11049, P60033, P60034, Q06AA5, Q11098, Q26499, Q3T0S3, Q4R7W6, Q4V8E0, Q58CY8, Q5RAP3, Q5RC27, Q61470, Q6AYR9, Q6DCQ3, Q6GMK6, Q80WR1, Q8BJU2, Q922J6, Q96SJ8, Q99J59, Q9DCK3, O60636, P19397, P24485, P30932, P35762, P40240, P62079, P62080, Q17QJ5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3797 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:3077449:GCGCG:G | donor_gain | 1.0000 |
| 12:3077452:CGG:C | donor_loss | 1.0000 |
| 12:3077454:G:GG | donor_gain | 1.0000 |
| 12:3077455:T:A | donor_loss | 1.0000 |
| 12:3278609:CAGC:C | donor_gain | 1.0000 |
| 12:3278611:GC:G | donor_gain | 1.0000 |
| 12:3278613:G:GG | donor_gain | 1.0000 |
| 12:3278990:A:AG | acceptor_gain | 1.0000 |
| 12:3278991:G:GA | acceptor_gain | 1.0000 |
| 12:3279063:CAAGG:C | donor_loss | 1.0000 |
| 12:3279064:AAGGT:A | donor_loss | 1.0000 |
| 12:3279066:GGT:G | donor_loss | 1.0000 |
| 12:3279067:GTAAG:G | donor_loss | 1.0000 |
| 12:3279068:T:G | donor_loss | 1.0000 |
| 12:3280372:C:CA | acceptor_gain | 1.0000 |
| 12:3280376:T:TA | acceptor_gain | 1.0000 |
| 12:3280378:GCAGG:G | acceptor_loss | 1.0000 |
| 12:3280379:CA:C | acceptor_loss | 1.0000 |
| 12:3280380:A:AG | acceptor_gain | 1.0000 |
| 12:3280380:AG:A | acceptor_gain | 1.0000 |
| 12:3280380:AGGT:A | acceptor_gain | 1.0000 |
| 12:3280380:AGGTG:A | acceptor_loss | 1.0000 |
| 12:3280381:G:GC | acceptor_gain | 1.0000 |
| 12:3280381:GG:G | acceptor_gain | 1.0000 |
| 12:3280381:GGT:G | acceptor_gain | 1.0000 |
| 12:3280381:GGTG:G | acceptor_gain | 1.0000 |
| 12:3280381:GGTGA:G | acceptor_gain | 1.0000 |
| 12:3280478:GC:G | donor_gain | 1.0000 |
| 12:3280479:C:G | donor_gain | 1.0000 |
| 12:3280482:AGG:A | donor_loss | 1.0000 |
AlphaMissense
1588 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:3281233:G:C | W156C | 0.999 |
| 12:3281233:G:T | W156C | 0.999 |
| 12:3280407:T:C | L119P | 0.998 |
| 12:3281210:G:T | G149C | 0.998 |
| 12:3281231:T:A | W156R | 0.998 |
| 12:3281231:T:C | W156R | 0.998 |
| 12:3280463:T:A | W138R | 0.997 |
| 12:3280463:T:C | W138R | 0.997 |
| 12:3281204:T:C | C147R | 0.997 |
| 12:3278428:G:A | G24D | 0.996 |
| 12:3278442:G:A | G29R | 0.996 |
| 12:3278442:G:C | G29R | 0.996 |
| 12:3278448:G:C | G31R | 0.996 |
| 12:3278538:G:C | G61R | 0.996 |
| 12:3278539:G:A | G61D | 0.996 |
| 12:3278559:G:C | G68R | 0.996 |
| 12:3278578:G:A | G74E | 0.996 |
| 12:3280465:G:C | W138C | 0.996 |
| 12:3280465:G:T | W138C | 0.996 |
| 12:3281204:T:A | C147S | 0.996 |
| 12:3281205:G:C | C147S | 0.996 |
| 12:3281207:T:A | C148S | 0.996 |
| 12:3281208:G:A | C148Y | 0.996 |
| 12:3281208:G:C | C148S | 0.996 |
| 12:3281211:G:A | G149D | 0.996 |
| 12:3281211:G:T | G149V | 0.996 |
| 12:3278449:G:A | G31D | 0.995 |
| 12:3278458:T:C | L34P | 0.995 |
| 12:3278560:G:A | G68D | 0.995 |
| 12:3278568:G:C | G71R | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000025806 (12:3083828 G>A), RS1000032889 (12:3147285 C>T), RS1000034161 (12:3212229 C>T), RS1000044296 (12:3180968 G>A,T), RS1000100527 (12:3190262 A>G), RS1000101937 (12:3217809 C>T), RS1000116956 (12:3080632 G>A), RS1000119236 (12:3157240 C>G,T), RS1000132034 (12:3105943 C>T), RS1000154416 (12:3190016 A>G), RS1000175498 (12:3265925 G>A), RS1000184924 (12:3141906 A>G), RS1000185946 (12:3175644 C>A,T), RS1000203157 (12:3116327 C>T), RS1000204843 (12:3085680 A>C)
Disease associations
OMIM: gene MIM:613137 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
35 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002029_1 | Temporomandibular joint disorder | 8.000000e-06 |
| GCST002337_62 | Amyotrophic lateral sclerosis (sporadic) | 3.000000e-06 |
| GCST003210_6 | Low vWF levels | 1.000000e-07 |
| GCST003372_36 | Glomerular filtration rate (creatinine) | 5.000000e-14 |
| GCST004292_4 | Glomerular filtration rate (creatinine) | 2.000000e-09 |
| GCST004616_90 | Platelet distribution width | 1.000000e-18 |
| GCST005196_60 | Coronary artery disease | 1.000000e-06 |
| GCST005984_36 | Glomerular filtration rate | 7.000000e-10 |
| GCST005985_36 | Creatinine levels | 7.000000e-11 |
| GCST006479_80 | Diverticular disease | 1.000000e-06 |
| GCST006979_881 | Heel bone mineral density | 6.000000e-16 |
| GCST007344_94 | Estimated glomerular filtration rate | 4.000000e-09 |
| GCST007876_94 | Estimated glomerular filtration rate | 5.000000e-20 |
| GCST008058_55 | Estimated glomerular filtration rate | 8.000000e-29 |
| GCST008059_59 | Estimated glomerular filtration rate | 1.000000e-24 |
| GCST008060_27 | Estimated glomerular filtration rate | 9.000000e-06 |
| GCST008506_9 | Stress sensitivity (neuroticism score x major depressive disorder status interaction) | 8.000000e-06 |
| GCST008747_73 | Estimated glomerular filtration rate | 2.000000e-19 |
| GCST008790_44 | Urinary albumin-to-creatinine ratio | 2.000000e-08 |
| GCST009462_113 | Optic disc size | 5.000000e-15 |
| GCST011739_6 | Cutaneous leishmaniasis | 2.000000e-06 |
| GCST012228_545 | Waist-hip index | 2.000000e-11 |
| GCST012230_38 | Waist-to-hip ratio adjusted for BMI | 2.000000e-11 |
| GCST012231_106 | A body shape index | 1.000000e-08 |
| GCST90000025_1013 | Appendicular lean mass | 7.000000e-22 |
| GCST90000025_1014 | Appendicular lean mass | 8.000000e-60 |
| GCST90000025_1015 | Appendicular lean mass | 2.000000e-55 |
| GCST90002398_136 | Neutrophil count | 8.000000e-12 |
| GCST90002401_227 | Platelet distribution width | 4.000000e-46 |
| GCST90002401_228 | Platelet distribution width | 5.000000e-10 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007984 | platelet component distribution width |
| EFO:0009959 | diverticular disease |
| EFO:0009270 | heel bone mineral density |
| EFO:0007660 | neuroticism measurement |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004980 | appendicular lean mass |
| EFO:0004833 | neutrophil count |
| EFO:0004305 | erythrocyte count |
| EFO:0004736 | aspartate aminotransferase measurement |
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 | affects methylation, decreases expression, increases methylation | 4 |
| Estradiol | decreases expression | 3 |
| bisphenol A | decreases expression, decreases methylation, increases expression | 2 |
| Silicon Dioxide | decreases expression, decreases methylation | 2 |
| Valproic Acid | increases methylation, increases expression | 2 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| benzo(e)pyrene | affects methylation, increases methylation | 1 |
| potassium chromate(VI) | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | decreases methylation | 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 | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Cisplatin | 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): cutaneous leishmaniasis, temporomandibular joint disorder