TSPAN33
gene geneOn this page
Also known as MGC50844Penumbra
Summary
TSPAN33 (tetraspanin 33, HGNC:28743) is a protein-coding gene on chromosome 7q32.1, encoding Tetraspanin-33 (Q86UF1). Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10.
Enables enzyme binding activity. Involved in pore complex assembly; protein localization to plasma membrane; and protein maturation. Located in plasma membrane. Part of pore complex.
Source: NCBI Gene 340348 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 33 total
- MANE Select transcript:
NM_178562
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28743 |
| Approved symbol | TSPAN33 |
| Name | tetraspanin 33 |
| Location | 7q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC50844, Penumbra |
| Ensembl gene | ENSG00000158457 |
| Ensembl biotype | protein_coding |
| OMIM | 610120 |
| Entrez | 340348 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000486685, ENST00000496963, ENST00000498745, ENST00000614309, ENST00000903575, ENST00000903576, ENST00000935290, ENST00000935291, ENST00000935292, ENST00000940895
RefSeq mRNA: 1 — MANE Select: NM_178562
NM_178562
CCDS: CCDS5810
Canonical transcript exons
ENST00000486685 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003694296 | 129167399 | 129167560 |
| ENSE00003717721 | 129166778 | 129166906 |
| ENSE00003728682 | 129167773 | 129169699 |
| ENSE00003728821 | 129162833 | 129162907 |
| ENSE00003732312 | 129162394 | 129162521 |
| ENSE00003740423 | 129144707 | 129145082 |
| ENSE00003744277 | 129164474 | 129164569 |
| ENSE00003751992 | 129161679 | 129161736 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 98.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6630 / max 209.6333, expressed in 1101 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 204691 | 9.2075 | 1092 |
| 204692 | 0.2463 | 112 |
| 204693 | 0.2093 | 107 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 98.84 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 97.18 | gold quality |
| renal medulla | UBERON:0000362 | 96.62 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.48 | gold quality |
| kidney | UBERON:0002113 | 95.00 | gold quality |
| cortex of kidney | UBERON:0001225 | 94.87 | gold quality |
| parotid gland | UBERON:0001831 | 93.86 | gold quality |
| monocyte | CL:0000576 | 93.84 | gold quality |
| leukocyte | CL:0000738 | 93.54 | gold quality |
| lymph node | UBERON:0000029 | 92.55 | gold quality |
| caput epididymis | UBERON:0004358 | 91.76 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.57 | gold quality |
| metanephros | UBERON:0000081 | 91.39 | gold quality |
| vermiform appendix | UBERON:0001154 | 91.03 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.00 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.44 | silver quality |
| medial globus pallidus | UBERON:0002477 | 90.18 | gold quality |
| caecum | UBERON:0001153 | 89.98 | gold quality |
| upper arm skin | UBERON:0004263 | 89.71 | silver quality |
| liver | UBERON:0002107 | 89.61 | gold quality |
| globus pallidus | UBERON:0001875 | 88.82 | gold quality |
| body of pancreas | UBERON:0001150 | 88.77 | gold quality |
| tonsil | UBERON:0002372 | 88.67 | gold quality |
| hypothalamus | UBERON:0001898 | 88.58 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.53 | gold quality |
| pituitary gland | UBERON:0000007 | 88.35 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 87.70 | gold quality |
| adult organism | UBERON:0007023 | 87.61 | gold quality |
| spleen | UBERON:0002106 | 87.60 | gold quality |
| pancreas | UBERON:0001264 | 87.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.02 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
79 targeting TSPAN33, 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-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| 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-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
Literature-anchored findings (GeneRIF, showing 5)
- TSPAN33 is overexpressed in activated and malignant B cells. (PMID:24211713)
- The results suggest that TSPAN33 represents a new control element in the development of inflammation by macrophages that could constitute a potential therapeutic target. (PMID:27574297)
- Data show that tetraspanin 33 (tspan33) is an early activation marker, and that disintegrin and metalloproteinase domain-containing protein 10 (ADAM10) protein expression does not correlate with Tspan33 expression in B cells. (PMID:28449222)
- Tetraspanin 33 (TSPAN33) regulates endocytosis and migration of human B lymphocytes by affecting the tension of the plasma membrane. (PMID:31958362)
- Cooperative binding of the tandem WW domains of PLEKHA7 to PDZD11 promotes conformation-dependent interaction with tetraspanin 33. (PMID:32371390)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tspan33a | ENSDARG00000004497 |
| mus_musculus | Tspan33 | ENSMUSG00000001763 |
| rattus_norvegicus | Tspan33 | ENSRNOG00000007900 |
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), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)
Protein
Protein identifiers
Tetraspanin-33 — Q86UF1 (reviewed: Q86UF1)
Alternative names: Penumbra, Proerythroblast new membrane
All UniProt accessions (1): Q86UF1
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. Plays an important role in normal erythropoiesis. It has a role in the differentiation of erythroid progenitors. Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity. Mediates docking of ADAM10 to zonula adherens by interacting with ADAM10 and, in a PDZD11-dependent manner, with the zonula adherens protein PLEKHA7.
Subunit / interactions. Homodimer; disulfide-linked. Interacts (via extracellular domain) with ADAM10 (via extracellular domain). Interacts (via cytoplasmic domain) with PLEKHA7 (via WW domains); the interaction is dependent on PDZD11 being bound to PLEKHA7 and facilitates the docking of ADAM10 to zonula adherens.
Subcellular location. Cell membrane. Cell junction. Adherens junction. Cytoplasm.
Tissue specificity. Predominantly expressed in erythroblasts.
Similarity. Belongs to the tetraspanin (TM4SF) family.
RefSeq proteins (1): NP_848657* (*=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 (15 total): topological domain 5, disulfide bond 4, transmembrane region 4, chain 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UF1-F1 | 89.41 | 0.78 |
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): 156–224, 157–189, 173–183, 190–203
Glycosylation sites (1): 172
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-977225 | Amyloid fiber formation |
MSigDB gene sets: 162 (showing top):
CCAWYNNGAAR_UNKNOWN, AREB6_03, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOCC_CELL_SURFACE, CAGCTG_AP4_Q5, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_PROTEIN_MATURATION, MYOD_01, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, chr7q32
GO Biological Process (3): pore complex assembly (GO:0046931), 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 (9): endoplasmic reticulum lumen (GO:0005788), plasma membrane (GO:0005886), adherens junction (GO:0005912), cell surface (GO:0009986), pore complex (GO:0046930), tetraspanin-enriched microdomain (GO:0097197), cytoplasm (GO:0005737), membrane (GO:0016020), anchoring junction (GO:0070161)
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 | 4 |
| protein-containing complex assembly | 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 |
| membrane | 1 |
| cell periphery | 1 |
| cell-cell junction | 1 |
| membrane protein complex | 1 |
| plasma membrane | 1 |
| intracellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
476 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSPAN33 | ADAM10 | O14672 | 907 |
| TSPAN33 | PDZD11 | Q5EBL8 | 665 |
| TSPAN33 | PLPPR3 | Q6T4P5 | 529 |
| TSPAN33 | TSPAN32 | Q96QS1 | 475 |
| TSPAN33 | TSPAN3 | O60637 | 459 |
| TSPAN33 | NT5M | Q9NPB1 | 451 |
| TSPAN33 | TM6SF1 | Q9BZW5 | 447 |
| TSPAN33 | PLEKHA7 | Q6IQ23 | 446 |
| TSPAN33 | TSPAN31 | Q12999 | 397 |
| TSPAN33 | CD9 | P21926 | 377 |
| TSPAN33 | EGFL7 | Q9UHF1 | 376 |
| TSPAN33 | H2BC21 | Q16778 | 374 |
| TSPAN33 | TSPAN13 | O95857 | 369 |
| TSPAN33 | SLC5A6 | Q9Y289 | 365 |
| TSPAN33 | TMEM182 | Q6ZP80 | 362 |
IntAct
91 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ADAM10 | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.620 |
| TSPAN33 | ADAM10 | psi-mi:“MI:0915”(physical association) | 0.620 |
| ADAM10 | TSPAN33 | psi-mi:“MI:0403”(colocalization) | 0.620 |
| TSPAN33 | TMEM106C | psi-mi:“MI:0915”(physical association) | 0.600 |
| TSPAN33 | LHFPL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | DARS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | MTIF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | MFF | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM209A | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | TMEM45B | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEMP1 | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAD2 | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GORAB | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN7 | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | SIT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COQ9 | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPINT1 | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJA8 | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLEKHO1 | TSPAN33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | GPR152 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | RELL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | SLC35C2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | CISD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN33 | SHISA4 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (71): ADAM10 (Affinity Capture-Western), MSN (Affinity Capture-MS), PDZD11 (Affinity Capture-MS), PLEKHA7 (Affinity Capture-MS), PLEKHA7 (Affinity Capture-MS), PDZD11 (Affinity Capture-MS), EZR (Affinity Capture-MS), MSN (Affinity Capture-MS), TSPAN33 (Two-hybrid), TSPAN33 (Two-hybrid), TSPAN33 (Two-hybrid), TSPAN33 (Two-hybrid), TSPAN33 (Two-hybrid), TSPAN33 (Two-hybrid), TSPAN33 (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: F7BWT7, O95858, P62079, P62080, Q0VC33, Q17QJ5, Q1JQA4, Q3SYV5, Q4V8E0, Q58DN3, Q5RH71, Q68VK5, Q6GQF5, Q86UF1, Q8NG11, Q8QZY6, Q8R3S2, Q96FV3, Q9D7W4, A0A8M2B5N2, A0A8V0ZLT4, A1L157, B5X3I6, O43657, O60635, O60636, O70352, O95859, O97703, P19075, P19397, P21926, P24485, P27701, P28648, P30409, P30932, P31053, P35762, P40237
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PLEKHA7 | “up-regulates activity” | TSPAN33 | binding |
| TSPAN33 | “up-regulates activity” | ADAM10 | binding |
| PDZD11 | “up-regulates activity” | TSPAN33 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1235 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:129145078:TCTGG:T | donor_gain | 1.0000 |
| 7:129145080:TGG:T | donor_gain | 1.0000 |
| 7:129145081:GG:G | donor_gain | 1.0000 |
| 7:129145081:GGG:G | donor_gain | 1.0000 |
| 7:129145082:GG:G | donor_gain | 1.0000 |
| 7:129145082:GGTG:G | donor_loss | 1.0000 |
| 7:129145083:G:GG | donor_gain | 1.0000 |
| 7:129145084:T:A | donor_loss | 1.0000 |
| 7:129161677:AGGT:A | acceptor_gain | 1.0000 |
| 7:129161678:GGTG:G | acceptor_gain | 1.0000 |
| 7:129161733:GCAG:G | donor_gain | 1.0000 |
| 7:129161736:GGTG:G | donor_loss | 1.0000 |
| 7:129161737:G:GG | donor_gain | 1.0000 |
| 7:129161737:GTG:G | donor_loss | 1.0000 |
| 7:129161738:T:A | donor_loss | 1.0000 |
| 7:129162392:A:AG | acceptor_gain | 1.0000 |
| 7:129162393:G:GT | acceptor_gain | 1.0000 |
| 7:129162393:GAA:G | acceptor_gain | 1.0000 |
| 7:129162518:GACG:G | donor_gain | 1.0000 |
| 7:129162520:CGGT:C | donor_loss | 1.0000 |
| 7:129162522:G:C | donor_loss | 1.0000 |
| 7:129162522:G:GG | donor_gain | 1.0000 |
| 7:129162523:T:G | donor_loss | 1.0000 |
| 7:129164462:T:G | acceptor_gain | 1.0000 |
| 7:129164462:T:TA | acceptor_gain | 1.0000 |
| 7:129164468:C:CA | acceptor_gain | 1.0000 |
| 7:129164472:AG:A | acceptor_gain | 1.0000 |
| 7:129164473:GG:G | acceptor_gain | 1.0000 |
| 7:129164473:GGCTC:G | acceptor_gain | 1.0000 |
| 7:129164567:AAGG:A | donor_loss | 1.0000 |
AlphaMissense
1856 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:129166813:G:C | W165C | 1.000 |
| 7:129166813:G:T | W165C | 1.000 |
| 7:129166811:T:A | W165R | 0.999 |
| 7:129166811:T:C | W165R | 0.999 |
| 7:129166788:G:A | C157Y | 0.998 |
| 7:129166829:T:C | F171L | 0.998 |
| 7:129166831:C:A | F171L | 0.998 |
| 7:129166831:C:G | F171L | 0.998 |
| 7:129166884:G:A | C189Y | 0.998 |
| 7:129166886:T:A | C190S | 0.998 |
| 7:129166887:G:C | C190S | 0.998 |
| 7:129162487:G:A | G85E | 0.997 |
| 7:129162496:G:C | R88P | 0.997 |
| 7:129166785:G:A | C156Y | 0.997 |
| 7:129166787:T:A | C157S | 0.997 |
| 7:129166788:G:C | C157S | 0.997 |
| 7:129166789:T:G | C157W | 0.997 |
| 7:129166791:G:A | G158E | 0.997 |
| 7:129166822:C:A | N168K | 0.997 |
| 7:129166822:C:G | N168K | 0.997 |
| 7:129166883:T:C | C189R | 0.997 |
| 7:129166885:T:G | C189W | 0.997 |
| 7:129166888:C:G | C190W | 0.997 |
| 7:129167417:T:A | C203S | 0.997 |
| 7:129167418:G:C | C203S | 0.997 |
| 7:129162486:G:T | G85W | 0.996 |
| 7:129164547:T:C | L146P | 0.996 |
| 7:129166784:T:A | C156S | 0.996 |
| 7:129166784:T:C | C156R | 0.996 |
| 7:129166785:G:C | C156S | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000094104 (7:129165418 T>C), RS1000308064 (7:129155077 A>C,T), RS1000423534 (7:129165761 T>G), RS1000943825 (7:129146528 C>T), RS1001009703 (7:129146216 T>C), RS1001110429 (7:129144366 G>A,T), RS1001447617 (7:129145687 G>A,C,T), RS1001478121 (7:129145465 G>A,T), RS1001613944 (7:129149429 A>G), RS1001730102 (7:129149174 T>C), RS1001916118 (7:129163579 A>G), RS1002013264 (7:129147758 G>A,C), RS1002124815 (7:129153717 G>A), RS1002152013 (7:129155366 A>G), RS1002212093 (7:129160331 A>C,G)
Disease associations
OMIM: gene MIM:610120 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001728_11 | Ulcerative colitis | 4.000000e-14 |
| GCST007876_104 | Estimated glomerular filtration rate | 8.000000e-10 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 5 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Aflatoxin B1 | increases expression, increases methylation, affects expression | 3 |
| Cisplatin | increases expression, affects cotreatment | 2 |
| Tretinoin | decreases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| pentanal | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Benzene | decreases expression | 1 |
| Cadmium | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Dichloroacetic Acid | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
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.