TSPAN14
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Also known as DC-TM4F2MGC11352
Summary
TSPAN14 (tetraspanin 14, HGNC:23303) is a protein-coding gene on chromosome 10q23.1, encoding Tetraspanin-14 (Q8NG11). Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10.
Enables enzyme binding activity. Involved in positive regulation of Notch signaling pathway; protein localization to plasma membrane; and protein maturation. Located in plasma membrane.
Source: NCBI Gene 81619 — RefSeq curated summary.
At a glance
- GWAS associations: 31
- Clinical variants (ClinVar): 46 total
- MANE Select transcript:
NM_030927
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23303 |
| Approved symbol | TSPAN14 |
| Name | tetraspanin 14 |
| Location | 10q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DC-TM4F2, MGC11352 |
| Ensembl gene | ENSG00000108219 |
| Ensembl biotype | protein_coding |
| Entrez | 81619 |
Gene structure
Transcript identifiers
Ensembl transcripts: 69 — 67 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000265450, ENST00000341863, ENST00000372156, ENST00000372157, ENST00000372158, ENST00000372164, ENST00000429989, ENST00000469149, ENST00000481124, ENST00000714437, ENST00000714438, ENST00000714439, ENST00000714440, ENST00000714441, ENST00000714442, ENST00000714443, ENST00000714444, ENST00000714445, ENST00000910475, ENST00000910476, ENST00000910477, ENST00000910478, ENST00000910479, ENST00000910480, ENST00000910481, ENST00000910482, ENST00000910483, ENST00000910484, ENST00000910485, ENST00000910486, ENST00000910487, ENST00000910488, ENST00000910489, ENST00000910490, ENST00000910491, ENST00000910492, ENST00000910493, ENST00000910494, ENST00000910495, ENST00000910496, ENST00000910497, ENST00000910498, ENST00000910499, ENST00000910500, ENST00000910501, ENST00000910502, ENST00000910503, ENST00000910504, ENST00000910505, ENST00000910506, ENST00000910507, ENST00000910508, ENST00000910509, ENST00000910510, ENST00000910511, ENST00000940593, ENST00000940594, ENST00000940595, ENST00000940596, ENST00000940597, ENST00000964935, ENST00000964936, ENST00000964937, ENST00000964938, ENST00000964939, ENST00000964940, ENST00000964941, ENST00000964942, ENST00000964943
RefSeq mRNA: 9 — MANE Select: NM_030927
NM_001128309, NM_001351266, NM_001351267, NM_001351268, NM_001351269, NM_001351270, NM_001351271, NM_001351272, NM_030927
CCDS: CCDS44448, CCDS7369
Canonical transcript exons
ENST00000429989 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000986156 | 80509301 | 80509471 |
| ENSE00000986157 | 80512144 | 80512269 |
| ENSE00000986158 | 80514019 | 80514063 |
| ENSE00000986159 | 80516204 | 80516323 |
| ENSE00003484216 | 80504728 | 80504778 |
| ENSE00003554777 | 80507228 | 80507374 |
| ENSE00003597471 | 80489217 | 80489314 |
| ENSE00004024000 | 80454310 | 80454371 |
| ENSE00004024006 | 80517905 | 80522631 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 97.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.8725 / max 325.8575, expressed in 1822 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 105869 | 41.2285 | 1819 |
| 105867 | 4.4116 | 1639 |
| 105882 | 2.1226 | 1065 |
| 105866 | 0.7848 | 490 |
| 105868 | 0.6635 | 409 |
| 105864 | 0.5619 | 156 |
| 105865 | 0.5046 | 257 |
| 105871 | 0.4441 | 167 |
| 105875 | 0.3135 | 130 |
| 105873 | 0.2646 | 95 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 97.67 | gold quality |
| right lung | UBERON:0002167 | 97.58 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.91 | gold quality |
| granulocyte | CL:0000094 | 96.86 | gold quality |
| tibial nerve | UBERON:0001323 | 96.74 | gold quality |
| omental fat pad | UBERON:0010414 | 96.42 | gold quality |
| peritoneum | UBERON:0002358 | 96.39 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.31 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.31 | gold quality |
| monocyte | CL:0000576 | 96.27 | gold quality |
| leukocyte | CL:0000738 | 96.27 | gold quality |
| mononuclear cell | CL:0000842 | 96.16 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.14 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 96.12 | gold quality |
| skin of leg | UBERON:0001511 | 95.94 | gold quality |
| upper lobe of lung | UBERON:0008948 | 95.85 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.33 | gold quality |
| apex of heart | UBERON:0002098 | 95.15 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.10 | gold quality |
| ectocervix | UBERON:0012249 | 95.09 | gold quality |
| pericardium | UBERON:0002407 | 95.03 | gold quality |
| blood | UBERON:0000178 | 94.90 | gold quality |
| lymph node | UBERON:0000029 | 94.78 | gold quality |
| endocervix | UBERON:0000458 | 94.68 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.65 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.54 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.45 | gold quality |
| adipose tissue | UBERON:0001013 | 94.44 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.43 | gold quality |
| zone of skin | UBERON:0000014 | 94.19 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 23.87 |
| E-HCAD-9 | yes | 15.75 |
| E-MTAB-9067 | yes | 13.01 |
| E-MTAB-2983 | no | 239.61 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
117 targeting TSPAN14, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
Literature-anchored findings (GeneRIF, showing 2)
- genetic alterations of TSPAN14, SLC2A13 and PHF20 could play a role in non-small-cell lung cancer promotion (PMID:19473719)
- Data suggest that large extracellular loop of Tspan14 mediates interaction with ADAM10, promotes ADAM10 maturation/trafficking to cell surface, and affects ADAM10 substrate specificity; ADAM10/Tspan14 interact in platelets/vascular endothelial cells. (PMID:26668317)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tspan14 | ENSDARG00000055938 |
| mus_musculus | Tspan14 | ENSMUSG00000037824 |
| rattus_norvegicus | Tspan14 | ENSRNOG00000010813 |
Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), CD37 (ENSG00000104894), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), 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-14 — Q8NG11 (reviewed: Q8NG11)
Alternative names: DC-TM4F2, Transmembrane 4 superfamily member 14
All UniProt accessions (5): Q8NG11, A0AAQ5BI32, A0AAQ5BI33, A6NEP9, H7BXY6
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. Negatively regulates ADAM10-mediated cleavage of GP6. Promotes ADAM10-mediated cleavage of CDH5.
Subunit / interactions. Interacts with ADAM10; the interaction promotes ADAM10 maturation and cell surface expression.
Subcellular location. Cell membrane.
Similarity. Belongs to the tetraspanin (TM4SF) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NG11-1 | 1 | yes |
| Q8NG11-2 | 2 | |
| Q8NG11-3 | 3 |
RefSeq proteins (9): NP_001121781, NP_001338195, NP_001338196, NP_001338197, NP_001338198, NP_001338199, NP_001338200, NP_001338201, NP_112189* (*=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 (20 total): topological domain 5, disulfide bond 4, transmembrane region 4, splice variant 2, sequence conflict 2, chain 1, region of interest 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NG11-F1 | 87.89 | 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.
Disulfide bonds (4): 153–221, 154–186, 170–180, 187–200
Glycosylation sites (1): 169
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-977225 | Amyloid fiber formation |
MSigDB gene sets: 207 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GOBP_POSITIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GOCC_CELL_SURFACE, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, RICKMAN_METASTASIS_DN, GOBP_PROTEIN_MATURATION, GOBP_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, CCCAGAG_MIR326, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, GOBP_LOCALIZATION_WITHIN_MEMBRANE, ACEVEDO_LIVER_CANCER_UP, CTAWWWATA_RSRFC4_Q2, AGCATTA_MIR155
GO Biological Process (4): positive regulation of Notch signaling pathway (GO:0045747), 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 (7): endoplasmic reticulum lumen (GO:0005788), plasma membrane (GO:0005886), cell surface (GO:0009986), specific granule membrane (GO:0035579), tertiary granule membrane (GO:0070821), tetraspanin-enriched microdomain (GO:0097197), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| secretory granule membrane | 2 |
| Notch signaling pathway | 1 |
| regulation of Notch signaling pathway | 1 |
| positive regulation of signal transduction | 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 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| specific granule | 1 |
| tertiary granule | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
730 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSPAN14 | ADAM10 | O14672 | 906 |
| TSPAN14 | DYDC1 | Q8WWB3 | 634 |
| TSPAN14 | DYDC2 | Q96IM9 | 611 |
| TSPAN14 | SH2D4B | Q5SQS7 | 583 |
| TSPAN14 | PTK2B | Q14289 | 539 |
| TSPAN14 | CD81 | P18582 | 517 |
| TSPAN14 | SERPINA1 | P01009 | 494 |
| TSPAN14 | CD9 | P21926 | 492 |
| TSPAN14 | SHC1 | P29353 | 488 |
| TSPAN14 | SOS1 | Q07889 | 482 |
| TSPAN14 | SQSTM1 | Q13501 | 468 |
| TSPAN14 | TSC2 | P49815 | 465 |
| TSPAN14 | CCSER2 | Q9H7U1 | 457 |
| TSPAN14 | RICTOR | Q6R327 | 455 |
| TSPAN14 | SMIM15 | Q7Z3B0 | 447 |
IntAct
29 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 |
| TSPAN14 | ADAM10 | psi-mi:“MI:0914”(association) | 0.740 |
| ADAM10 | TSPAN14 | psi-mi:“MI:0915”(physical association) | 0.740 |
| TSPAN14 | ADAM10 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ADAM10 | TSPAN14 | psi-mi:“MI:0403”(colocalization) | 0.740 |
| CD151 | ADAM10 | psi-mi:“MI:0914”(association) | 0.530 |
| ADAM10 | TSPAN14 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATP13A2 | TSPAN14 | 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 |
| CD81 | STX3 | psi-mi:“MI:0914”(association) | 0.350 |
| CD81 | PVR | psi-mi:“MI:0914”(association) | 0.350 |
| CD81 | CD276 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| ATP2B2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSC22D3 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| CSDE1 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (16): ADAM10 (Affinity Capture-Western), TSPAN14 (Affinity Capture-MS), TSPAN14 (Affinity Capture-MS), TSPAN14 (Proximity Label-MS), TSPAN14 (Affinity Capture-MS), TSPAN14 (Affinity Capture-MS), TSPAN14 (Proximity Label-MS), TSPAN14 (Affinity Capture-MS), TSPAN14 (Co-fractionation), TSPAN14 (Co-fractionation), TSPAN14 (Co-fractionation), TSPAN14 (Co-fractionation), UFL1 (Co-fractionation), TSPAN14 (Affinity Capture-RNA), TSPAN14 (Affinity Capture-RNA)
ESM2 similar proteins: A0A1B0GVX0, A2ADU8, A2ADU9, A2Y075, A6QP72, O82232, P34655, P55017, P55018, P56508, P59158, P68178, P68179, Q0DKW8, Q0VBW2, Q22701, Q3ZCB2, Q53GD3, Q54RZ2, Q5REK4, Q5RJI2, Q5TYP8, Q66I68, Q6DK93, Q6DK99, Q6E1M8, Q6E213, Q6GMG8, Q6GZQ0, Q6NUC1, Q6P828, Q6PCW6, Q6ZPD8, Q8H5T6, Q8NG11, Q8QZY6, Q8S5M8, Q91VA1, Q9ARD5, Q9BYD5
Diamond homologs: F7BWT7, O95858, P62079, P62080, Q0VC33, Q17QJ5, Q1JQA4, Q3SYV5, Q4V8E0, Q58DN3, Q5RH71, Q68VK5, Q6GQF5, Q86UF1, Q8NG11, Q8QZY6, Q8R3S2, Q96FV3, Q9D7W4, A0A8V0ZLT4, A1L157, B0BM39, B3VSC2, O35566, O60636, O70352, O75954, O95859, O97703, P19075, P21926, P30409, P30932, P31053, P35762, P40237, P40239, P40240, P40241, P48509
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1929 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:80507370:ACTTT:A | donor_gain | 1.0000 |
| 10:80507371:CTTT:C | donor_gain | 1.0000 |
| 10:80507372:TTT:T | donor_gain | 1.0000 |
| 10:80507372:TTTGT:T | donor_loss | 1.0000 |
| 10:80507373:TT:T | donor_gain | 1.0000 |
| 10:80507373:TTGTG:T | donor_loss | 1.0000 |
| 10:80507374:TGTG:T | donor_loss | 1.0000 |
| 10:80507375:G:GG | donor_gain | 1.0000 |
| 10:80507375:GTGA:G | donor_loss | 1.0000 |
| 10:80507376:T:A | donor_loss | 1.0000 |
| 10:80507377:G:GG | donor_loss | 1.0000 |
| 10:80509299:A:AG | acceptor_gain | 1.0000 |
| 10:80509299:A:C | acceptor_loss | 1.0000 |
| 10:80509300:G:GA | acceptor_gain | 1.0000 |
| 10:80509300:GT:G | acceptor_gain | 1.0000 |
| 10:80509300:GTT:G | acceptor_gain | 1.0000 |
| 10:80509300:GTTC:G | acceptor_gain | 1.0000 |
| 10:80509300:GTTCT:G | acceptor_gain | 1.0000 |
| 10:80509467:AAGCT:A | donor_gain | 1.0000 |
| 10:80509468:AGCT:A | donor_gain | 1.0000 |
| 10:80509468:AGCTG:A | donor_loss | 1.0000 |
| 10:80509469:GCT:G | donor_gain | 1.0000 |
| 10:80509469:GCTG:G | donor_gain | 1.0000 |
| 10:80509470:CT:C | donor_gain | 1.0000 |
| 10:80509471:TG:T | donor_loss | 1.0000 |
| 10:80509472:G:GG | donor_gain | 1.0000 |
| 10:80509472:GTAA:G | donor_loss | 1.0000 |
| 10:80509473:T:G | donor_loss | 1.0000 |
| 10:80512135:T:TA | acceptor_gain | 1.0000 |
| 10:80512136:G:A | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000022393 (10:80470866 A>C), RS1000055194 (10:80492040 G>C,T), RS1000098560 (10:80508899 C>T), RS1000109061 (10:80469498 G>A), RS1000123744 (10:80511339 T>A), RS1000131243 (10:80508711 C>G,T), RS1000144160 (10:80452409 C>T), RS1000183987 (10:80490332 A>G), RS1000189517 (10:80499878 C>A,T), RS1000307851 (10:80494828 C>T), RS1000317445 (10:80496800 C>T), RS1000347922 (10:80457733 C>T), RS1000392614 (10:80482223 A>G), RS1000487144 (10:80453939 A>C,G), RS1000504808 (10:80453107 C>T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
31 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001725_5 | Inflammatory bowel disease | 9.000000e-16 |
| GCST003262_100 | Post bronchodilator FEV1 | 5.000000e-06 |
| GCST003262_1012 | Post bronchodilator FEV1 | 3.000000e-06 |
| GCST003262_122 | Post bronchodilator FEV1 | 4.000000e-07 |
| GCST003262_49 | Post bronchodilator FEV1 | 8.000000e-07 |
| GCST003262_58 | Post bronchodilator FEV1 | 4.000000e-06 |
| GCST003262_668 | Post bronchodilator FEV1 | 2.000000e-06 |
| GCST003262_682 | Post bronchodilator FEV1 | 6.000000e-07 |
| GCST003262_88 | Post bronchodilator FEV1 | 2.000000e-06 |
| GCST004131_69 | Inflammatory bowel disease | 5.000000e-08 |
| GCST004132_36 | Crohn’s disease | 7.000000e-08 |
| GCST005194_134 | Coronary artery disease | 2.000000e-11 |
| GCST005195_92 | Coronary artery disease | 2.000000e-11 |
| GCST005196_34 | Coronary artery disease | 2.000000e-10 |
| GCST005537_191 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 1.000000e-13 |
| GCST005542_5 | Sarcoidosis (non-Lofgren’s syndrome without extrapulmonary manifestations) | 4.000000e-06 |
| GCST006629_29 | Pulse pressure | 1.000000e-14 |
| GCST007692_28 | Chronic obstructive pulmonary disease | 4.000000e-08 |
| GCST008017_8 | Bitter taste perception (6-n-propylthiouracil) in obesity with metabolic syndrome | 8.000000e-06 |
| GCST008058_221 | Estimated glomerular filtration rate | 4.000000e-12 |
| GCST008059_148 | Estimated glomerular filtration rate | 1.000000e-11 |
| GCST008362_118 | Birth weight | 2.000000e-08 |
| GCST010726_40 | Periventricular white matter hyperintensities | 1.000000e-08 |
| GCST010866_144 | Coronary artery disease | 3.000000e-06 |
| GCST011365_103 | Myocardial infarction | 1.000000e-07 |
| GCST011564_2 | Severe coronary stenosis (young age of onset interaction) | 4.000000e-07 |
| GCST012214_8 | Alzheimer’s disease | 4.000000e-06 |
| GCST90002388_567 | Lymphocyte count | 4.000000e-11 |
| GCST90002393_359 | Monocyte count | 4.000000e-13 |
| GCST90002407_302 | White blood cell count | 3.000000e-13 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004314 | forced expiratory volume |
| EFO:0005763 | pulse pressure measurement |
| EFO:0004344 | birth weight |
| EFO:0005665 | white matter hyperintensity measurement |
| EFO:0004847 | age at onset |
| EFO:0004587 | lymphocyte count |
| EFO:0005091 | monocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | increases expression | 2 |
| Valproic Acid | increases methylation, affects expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| dicrotophos | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects expression | 1 |
| quercitrin | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression, affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dexamethasone | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| Selenium | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | 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): coronary stenosis, sarcoidosis