TSPAN4
gene geneOn this page
Also known as NAG-2TSPAN-4TETRASPAN
Summary
TSPAN4 (tetraspanin 4, HGNC:11859) is a protein-coding gene on chromosome 11p15.5, encoding Tetraspanin-4 (O14817). Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling.
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. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified.
Source: NCBI Gene 7106 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 60 total
- MANE Select transcript:
NM_003271
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11859 |
| Approved symbol | TSPAN4 |
| Name | tetraspanin 4 |
| Location | 11p15.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NAG-2, TSPAN-4, TETRASPAN |
| Ensembl gene | ENSG00000214063 |
| Ensembl biotype | protein_coding |
| OMIM | 602644 |
| Entrez | 7106 |
Gene structure
Transcript identifiers
Ensembl transcripts: 76 — 70 protein_coding, 6 retained_intron
ENST00000346501, ENST00000397396, ENST00000397397, ENST00000397404, ENST00000397406, ENST00000397408, ENST00000397411, ENST00000409531, ENST00000409543, ENST00000464987, ENST00000468468, ENST00000494815, ENST00000524895, ENST00000525201, ENST00000525334, ENST00000526055, ENST00000527644, ENST00000529566, ENST00000530404, ENST00000532375, ENST00000894461, ENST00000894462, ENST00000894463, ENST00000894464, ENST00000894465, ENST00000894466, ENST00000894467, ENST00000894468, ENST00000894469, ENST00000894470, ENST00000894471, ENST00000894472, ENST00000894473, ENST00000894474, ENST00000894475, ENST00000894476, ENST00000894477, ENST00000894478, ENST00000894479, ENST00000894480, ENST00000894481, ENST00000894482, ENST00000894483, ENST00000894484, ENST00000894485, ENST00000894486, ENST00000894487, ENST00000894488, ENST00000894489, ENST00000912168, ENST00000912169, ENST00000912170, ENST00000912171, ENST00000912172, ENST00000912173, ENST00000912174, ENST00000912175, ENST00000912176, ENST00000912177, ENST00000912178, ENST00000912179, ENST00000971873, ENST00000971874, ENST00000971875, ENST00000971876, ENST00000971877, ENST00000971878, ENST00000971879, ENST00000971880, ENST00000971881, ENST00000971882, ENST00000971883, ENST00000971884, ENST00000971885, ENST00000971886, ENST00000971887
RefSeq mRNA: 7 — MANE Select: NM_003271
NM_001025234, NM_001025235, NM_001025236, NM_001025237, NM_001025238, NM_001025239, NM_003271
CCDS: CCDS41589, CCDS7721
Canonical transcript exons
ENST00000397397 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001301323 | 847201 | 847300 |
| ENSE00002189838 | 842852 | 842915 |
| ENSE00003537950 | 864437 | 864511 |
| ENSE00003545594 | 865694 | 865825 |
| ENSE00003548838 | 866562 | 867111 |
| ENSE00003566913 | 865918 | 866001 |
| ENSE00003585196 | 865513 | 865614 |
| ENSE00003640300 | 850288 | 850367 |
| ENSE00003787171 | 862550 | 862741 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 98.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.0147 / max 579.0660, expressed in 1804 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 112322 | 27.2501 | 1782 |
| 112325 | 18.8587 | 1418 |
| 112324 | 7.1223 | 1431 |
| 112326 | 2.6097 | 1013 |
| 112323 | 2.5145 | 1124 |
| 112329 | 1.7509 | 559 |
| 112321 | 0.5401 | 312 |
| 112328 | 0.3683 | 188 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 98.88 | gold quality |
| right lung | UBERON:0002167 | 97.92 | gold quality |
| omental fat pad | UBERON:0010414 | 97.77 | gold quality |
| peritoneum | UBERON:0002358 | 97.71 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 97.51 | gold quality |
| left uterine tube | UBERON:0001303 | 97.40 | gold quality |
| right ovary | UBERON:0002118 | 97.38 | gold quality |
| endocervix | UBERON:0000458 | 97.36 | gold quality |
| left ovary | UBERON:0002119 | 97.35 | gold quality |
| body of uterus | UBERON:0009853 | 97.32 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 97.28 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.20 | gold quality |
| tibial nerve | UBERON:0001323 | 97.06 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.03 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.95 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.92 | gold quality |
| right coronary artery | UBERON:0001625 | 96.86 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.72 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.29 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.28 | gold quality |
| adipose tissue | UBERON:0001013 | 96.27 | gold quality |
| thyroid gland | UBERON:0002046 | 96.25 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.23 | gold quality |
| lower esophagus | UBERON:0013473 | 96.22 | gold quality |
| spleen | UBERON:0002106 | 96.05 | gold quality |
| connective tissue | UBERON:0002384 | 95.73 | gold quality |
| ectocervix | UBERON:0012249 | 95.69 | gold quality |
| apex of heart | UBERON:0002098 | 95.53 | gold quality |
| coronary artery | UBERON:0001621 | 95.29 | gold quality |
| left coronary artery | UBERON:0001626 | 95.25 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 59.01 |
| E-MTAB-8410 | yes | 56.94 |
| E-ANND-3 | yes | 19.01 |
| E-HCAD-1 | yes | 17.11 |
| E-CURD-112 | yes | 13.99 |
| E-HCAD-13 | yes | 11.65 |
| E-MTAB-6678 | yes | 11.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting TSPAN4, 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-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-1178-3P | 98.57 | 67.09 | 890 |
| HSA-MIR-216B-3P | 98.55 | 67.19 | 1223 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-342-3P | 96.44 | 67.48 | 1344 |
Literature-anchored findings (GeneRIF, showing 4)
- TM4SF4/il-TMP has the potential to be biomarker in a hepatocellular carcinoma and plays a crucial role in promotion of cancer cell proliferation (PMID:22236579)
- Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children. (PMID:34355505)
- Identification of TSPAN4 as Novel Histamine H4 Receptor Interactor. (PMID:34439793)
- TSPAN4 and migrasomes in atherosclerosis regression correlated to myocardial infarction and pan-cancer progression. (PMID:36513632)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tspan4a | ENSDARG00000089354 |
| mus_musculus | Tspan4 | ENSMUSG00000025511 |
| rattus_norvegicus | Tspan4 | ENSRNOG00000029810 |
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), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN19 (ENSG00000231738)
Protein
Protein identifiers
Tetraspanin-4 — O14817 (reviewed: O14817)
Alternative names: Novel antigen 2, Transmembrane 4 superfamily member 7
All UniProt accessions (8): A8MVV6, E9PMX4, E9PN41, E9PPX8, E9PSH3, O14817, J3KNL1, J3KQ42
UniProt curated annotations — full annotation on UniProt →
Function. Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Plays an essential role in migrasome formation and migration on retracting fibers at the rear end of migrating cells. Migrasomes are cellular organelles that form as large vesicle-like structures on retraction fibers of migrating cells. Mechanistically, acts as a membrane curvature sensor and participates in stabilizing the migrasome structure in a late stage of biogenesis. May also play a regulatory role for the histamine H4 receptor/HRH4 without affecting histamine binding to HRH4 or signaling.
Subunit / interactions. Forms a complex with integrins. Interacts with HRH4.
Subcellular location. Cell membrane.
Tissue specificity. Expressed in multiple tissues but is absent in brain, lymphoid cells, and platelets.
Similarity. Belongs to the tetraspanin (TM4SF) family.
RefSeq proteins (7): NP_001020405, NP_001020406, NP_001020407, NP_001020408, NP_001020409, NP_001020410, NP_003262* (*=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 (13 total): topological domain 5, transmembrane region 4, glycosylation site 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14817-F1 | 89.95 | 0.69 |
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 (2): 152, 161
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 217 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, MODULE_64, FOXO4_01, GGGTGGRR_PAX4_03, USF_C, YU_MYC_TARGETS_UP, UEDA_PERIFERAL_CLOCK, ACATTCC_MIR1_MIR206, TGACATY_UNKNOWN, ABBUD_LIF_SIGNALING_1_UP, GOMF_SIGNALING_RECEPTOR_BINDING, ZAMORA_NOS2_TARGETS_DN, FOXO4_02
GO Biological Process (1): protein-containing complex assembly (GO:0065003)
GO Molecular Function (3): antigen binding (GO:0003823), integrin binding (GO:0005178), protein binding (GO:0005515)
GO Cellular Component (4): plasma membrane (GO:0005886), focal adhesion (GO:0005925), vesicle (GO:0031982), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cellular component assembly | 1 |
| protein-containing complex organization | 1 |
| signaling receptor binding | 1 |
| protein-containing complex binding | 1 |
| cell adhesion molecule binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-substrate junction | 1 |
| membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
756 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSPAN4 | GDF15 | P78360 | 880 |
| TSPAN4 | CHD7 | Q9P2D1 | 649 |
| TSPAN4 | SERPINA7 | P05543 | 643 |
| TSPAN4 | ADCY10 | Q96PN6 | 637 |
| TSPAN4 | NISCH | Q9Y2I1 | 573 |
| TSPAN4 | CD81 | P18582 | 571 |
| TSPAN4 | TMEM8B | A6NDV4 | 571 |
| TSPAN4 | ITGB1 | P05556 | 508 |
| TSPAN4 | CCDC136 | Q96JN2 | 507 |
| TSPAN4 | ASPDH | A6ND91 | 488 |
| TSPAN4 | CD9 | P21926 | 487 |
| TSPAN4 | ITGA6 | P23229 | 441 |
| TSPAN4 | TSPAN31 | Q12999 | 439 |
| TSPAN4 | CTIF | O43310 | 425 |
| TSPAN4 | B4E171 | B4E171 | 416 |
IntAct
128 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NOTCH2NLA | TSPAN4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TSPAN4 | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.670 |
| CYSRT1 | TSPAN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | NOTCH2NLC | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | NR4A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | LCE2D | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | CREB5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | CLEC2D | psi-mi:“MI:0915”(physical association) | 0.560 |
| FCHO1 | TSPAN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | LCE3A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | CATSPER1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | LCE3D | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | LCE4A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| PHLDA1 | TSPAN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | GNE | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | LCE3C | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | KRTAP9-2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | HOXA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | KRTAP9-3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | GRN | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | GUCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | CHRD | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | FRS3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VGLL3 | TSPAN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (58): NOTCH2NL (Two-hybrid), TSPAN4 (Two-hybrid), TSPAN4 (Affinity Capture-RNA), TSPAN4 (Affinity Capture-RNA), TSPAN4 (Two-hybrid), TSPAN4 (Two-hybrid), TSPAN4 (Two-hybrid), TSPAN4 (Two-hybrid), TSPAN4 (Two-hybrid), TSPAN4 (Two-hybrid), TSPAN4 (Two-hybrid), TSPAN4 (Two-hybrid), TSPAN4 (Two-hybrid), TSPAN4 (Two-hybrid), TSPAN4 (Two-hybrid)
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.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 40 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 |
|---|---|---|---|
| Keratinization | 13 | 25.9× | 2e-14 |
| Formation of the cornified envelope | 7 | 22.0× | 3e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| keratinization | 8 | 52.0× | 4e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1977 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:842412:AC:A | donor_gain | 1.0000 |
| 11:842412:ACC:A | donor_gain | 1.0000 |
| 11:842413:CC:C | donor_gain | 1.0000 |
| 11:842413:CCC:C | donor_gain | 1.0000 |
| 11:842413:CCCCT:C | donor_gain | 1.0000 |
| 11:850366:GG:G | donor_gain | 1.0000 |
| 11:850367:GG:G | donor_gain | 1.0000 |
| 11:862537:T:TA | acceptor_gain | 1.0000 |
| 11:862540:T:A | acceptor_gain | 1.0000 |
| 11:862548:AGCTG:A | acceptor_gain | 1.0000 |
| 11:862549:GCTGG:G | acceptor_gain | 1.0000 |
| 11:862641:C:A | acceptor_gain | 1.0000 |
| 11:862741:TG:T | donor_loss | 1.0000 |
| 11:862742:G:GG | donor_gain | 1.0000 |
| 11:862742:GTGA:G | donor_loss | 1.0000 |
| 11:864434:CA:C | acceptor_loss | 1.0000 |
| 11:864435:A:AG | acceptor_gain | 1.0000 |
| 11:864435:AGTTC:A | acceptor_loss | 1.0000 |
| 11:864436:G:GA | acceptor_gain | 1.0000 |
| 11:864436:GTT:G | acceptor_gain | 1.0000 |
| 11:864509:AAGG:A | donor_loss | 1.0000 |
| 11:864510:AGGT:A | donor_loss | 1.0000 |
| 11:864511:GGTA:G | donor_loss | 1.0000 |
| 11:865511:A:AG | acceptor_gain | 1.0000 |
| 11:865511:AGATT:A | acceptor_gain | 1.0000 |
| 11:865512:G:GA | acceptor_gain | 1.0000 |
| 11:865512:GA:G | acceptor_gain | 1.0000 |
| 11:865512:GAT:G | acceptor_gain | 1.0000 |
| 11:865512:GATT:G | acceptor_gain | 1.0000 |
| 11:865512:GATTG:G | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000141388 (11:852064 G>A,T), RS1000218968 (11:845084 C>G,T), RS1000285576 (11:861438 C>T), RS1000390673 (11:847480 G>A,T), RS1000441734 (11:843285 G>T), RS1000639494 (11:863458 C>A,T), RS1000695966 (11:844245 G>A), RS1000920457 (11:852944 G>A,C), RS1000934032 (11:855855 C>T), RS1000977106 (11:861181 A>C), RS1000987371 (11:844421 C>G), RS1000994924 (11:857638 C>G,T), RS1001029418 (11:860949 C>T), RS1001167936 (11:862519 T>C), RS1001175730 (11:846884 C>T)
Disease associations
OMIM: gene MIM:602644 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90012857_13 | Falling risk | 2.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 6 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 4 |
| Tobacco Smoke Pollution | decreases expression, increases methylation | 3 |
| Tretinoin | decreases expression, increases expression | 3 |
| Particulate Matter | decreases reaction, increases abundance, decreases expression | 3 |
| Arsenic | increases abundance, increases expression, affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Smoke | increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| entinostat | increases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| dorsomorphin | 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 | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XU79 | HAP1 TSPAN4 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.