UGT2B11
gene geneOn this page
Summary
UGT2B11 (UDP glucuronosyltransferase family 2 member B11, HGNC:12545) is a protein-coding gene on chromosome 4q13.2, encoding UDP-glucuronosyltransferase 2B11 (O75310). UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.
Enables glucuronosyltransferase activity. Involved in estrogen metabolic process. Predicted to be located in endoplasmic reticulum membrane.
Source: NCBI Gene 10720 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 26 total
- Druggable target: yes
- MANE Select transcript:
NM_001073
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12545 |
| Approved symbol | UGT2B11 |
| Name | UDP glucuronosyltransferase family 2 member B11 |
| Location | 4q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000213759 |
| Ensembl biotype | protein_coding |
| OMIM | 603064 |
| Entrez | 10720 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron
ENST00000446444, ENST00000513315
RefSeq mRNA: 1 — MANE Select: NM_001073
NM_001073
CCDS: CCDS3527
Canonical transcript exons
ENST00000446444 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001487511 | 69199951 | 69200719 |
| ENSE00001641198 | 69214002 | 69214748 |
| ENSE00002448993 | 69212573 | 69212721 |
| ENSE00002467428 | 69204430 | 69204649 |
| ENSE00002516239 | 69208351 | 69208482 |
| ENSE00002534262 | 69205480 | 69205567 |
Expression profiles
Bgee: expression breadth broad, 56 present calls, max score 81.85.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0982 / max 13.9594, expressed in 30 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52353 | 0.0982 | 30 |
Top tissues by expression
117 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.85 | gold quality |
| liver | UBERON:0002107 | 78.98 | gold quality |
| gall bladder | UBERON:0002110 | 78.83 | gold quality |
| right lobe of liver | UBERON:0001114 | 78.65 | gold quality |
| metanephros cortex | UBERON:0010533 | 64.13 | gold quality |
| cortex of kidney | UBERON:0001225 | 63.45 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 63.40 | gold quality |
| kidney | UBERON:0002113 | 62.51 | gold quality |
| monocyte | CL:0000576 | 58.09 | gold quality |
| islet of Langerhans | UBERON:0000006 | 57.57 | gold quality |
| duodenum | UBERON:0002114 | 56.68 | gold quality |
| leukocyte | CL:0000738 | 55.92 | gold quality |
| body of pancreas | UBERON:0001150 | 54.72 | gold quality |
| pancreas | UBERON:0001264 | 54.56 | gold quality |
| endometrium | UBERON:0001295 | 51.05 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 48.31 | gold quality |
| thyroid gland | UBERON:0002046 | 48.28 | gold quality |
| bone marrow | UBERON:0002371 | 46.78 | gold quality |
| adrenal tissue | UBERON:0018303 | 46.53 | gold quality |
| bone marrow cell | CL:0002092 | 46.09 | silver quality |
| blood | UBERON:0000178 | 45.97 | gold quality |
| tonsil | UBERON:0002372 | 45.81 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 45.00 | gold quality |
| vermiform appendix | UBERON:0001154 | 44.24 | gold quality |
| urinary bladder | UBERON:0001255 | 44.22 | gold quality |
| cortical plate | UBERON:0005343 | 43.73 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 43.71 | gold quality |
| transverse colon | UBERON:0001157 | 43.43 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 43.20 | gold quality |
| fallopian tube | UBERON:0003889 | 40.99 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.24 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
6 targeting UGT2B11, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-548AV-3P | 99.43 | 68.50 | 1721 |
| HSA-MIR-2355-3P | 96.84 | 68.54 | 909 |
Literature-anchored findings (GeneRIF, showing 2)
- significant expression of UGT2B11 was detected in the liver, breast and kidney, and was clearly different from the distribution of UGT2B28 (PMID:21679149)
- CYP3A4, CYP3A7, UGT2B11 and UGT2B15 genes are significantly downregulated in melanosis coli. (PMID:26238215)
Cross-species orthologs
107 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ugt5d1 | ENSDARG00000002394 |
| danio_rerio | ugt5c2 | ENSDARG00000006372 |
| danio_rerio | ugt5a1 | ENSDARG00000016479 |
| danio_rerio | ugt5g1 | ENSDARG00000032862 |
| danio_rerio | ugt5g2 | ENSDARG00000043901 |
| danio_rerio | ugt5f1 | ENSDARG00000054835 |
| danio_rerio | ugt5e1 | ENSDARG00000058048 |
| danio_rerio | ugt5c3 | ENSDARG00000061439 |
| danio_rerio | ugt5c1 | ENSDARG00000061444 |
| danio_rerio | si:ch73-334d15.1 | ENSDARG00000061672 |
| danio_rerio | ugt2a7 | ENSDARG00000091624 |
| danio_rerio | ugt5b4 | ENSDARG00000091916 |
| danio_rerio | ugt2b1 | ENSDARG00000093043 |
| danio_rerio | ugt5a2 | ENSDARG00000093640 |
| danio_rerio | ugt5b3 | ENSDARG00000099276 |
| danio_rerio | ugt5b2 | ENSDARG00000101495 |
| danio_rerio | ugt5b5 | ENSDARG00000104203 |
| danio_rerio | ugt5b1 | ENSDARG00000104995 |
| danio_rerio | ugt2b3 | ENSDARG00000109611 |
| danio_rerio | ENSDARG00000110614 | |
| danio_rerio | ENSDARG00000113218 | |
| danio_rerio | ugt2b5 | ENSDARG00000116986 |
| drosophila_melanogaster | Ugt36A1 | FBGN0015663 |
| drosophila_melanogaster | Ugt35B1 | FBGN0026314 |
| drosophila_melanogaster | Ugt35A1 | FBGN0026315 |
| drosophila_melanogaster | Ugt37C1 | FBGN0026754 |
| drosophila_melanogaster | Ugt37B1 | FBGN0026755 |
| drosophila_melanogaster | Ugt37A1 | FBGN0026756 |
| drosophila_melanogaster | Ugt36E1 | FBGN0027070 |
| drosophila_melanogaster | Ugt49B1 | FBGN0027073 |
| drosophila_melanogaster | Ugt36F1 | FBGN0027074 |
| drosophila_melanogaster | Ugt307A1 | FBGN0031887 |
| drosophila_melanogaster | Ugt36D1 | FBGN0032713 |
| drosophila_melanogaster | Ugt49C1 | FBGN0034605 |
| drosophila_melanogaster | Ugt316A1 | FBGN0036842 |
| drosophila_melanogaster | Ugt37A2 | FBGN0038082 |
| drosophila_melanogaster | Ugt37A3 | FBGN0038083 |
| drosophila_melanogaster | Ugt49B2 | FBGN0038886 |
| drosophila_melanogaster | Ugt303B3 | FBGN0039085 |
| drosophila_melanogaster | Ugt303B1 | FBGN0039086 |
| drosophila_melanogaster | Ugt303B2 | FBGN0039087 |
| drosophila_melanogaster | Ugt304A1 | FBGN0040250 |
| drosophila_melanogaster | Ugt302K1 | FBGN0040251 |
| drosophila_melanogaster | Ugt303A1 | FBGN0040252 |
| drosophila_melanogaster | Ugt35E1 | FBGN0040253 |
| drosophila_melanogaster | Ugt35E2 | FBGN0040255 |
| drosophila_melanogaster | Ugt302E1 | FBGN0040257 |
| drosophila_melanogaster | Ugt302C1 | FBGN0040259 |
| drosophila_melanogaster | Ugt37D1 | FBGN0040260 |
| drosophila_melanogaster | Ugt37E1 | FBGN0040261 |
| drosophila_melanogaster | Ugt37C2 | FBGN0040262 |
| drosophila_melanogaster | Ugt305A1 | FBGN0042179 |
| drosophila_melanogaster | Ugt35D1 | FBGN0051002 |
| caenorhabditis_elegans | WBGENE00007072 | |
| caenorhabditis_elegans | WBGENE00007073 | |
| caenorhabditis_elegans | WBGENE00007402 | |
| caenorhabditis_elegans | WBGENE00007422 | |
| caenorhabditis_elegans | WBGENE00007455 | |
| caenorhabditis_elegans | WBGENE00007885 | |
| caenorhabditis_elegans | WBGENE00007946 | |
| caenorhabditis_elegans | WBGENE00008097 | |
| caenorhabditis_elegans | WBGENE00008486 | |
| caenorhabditis_elegans | WBGENE00009255 | |
| caenorhabditis_elegans | WBGENE00010904 | |
| caenorhabditis_elegans | WBGENE00011006 | |
| caenorhabditis_elegans | WBGENE00011340 | |
| caenorhabditis_elegans | WBGENE00011452 | |
| caenorhabditis_elegans | WBGENE00011453 | |
| caenorhabditis_elegans | WBGENE00012788 | |
| caenorhabditis_elegans | WBGENE00013900 | |
| caenorhabditis_elegans | WBGENE00013905 | |
| caenorhabditis_elegans | WBGENE00013906 | |
| caenorhabditis_elegans | WBGENE00015141 | |
| caenorhabditis_elegans | WBGENE00015369 | |
| caenorhabditis_elegans | WBGENE00015371 | |
| caenorhabditis_elegans | WBGENE00015449 | |
| caenorhabditis_elegans | WBGENE00015577 | |
| caenorhabditis_elegans | ugt-28 | WBGENE00015693 |
| caenorhabditis_elegans | ugt-27 | WBGENE00015694 |
| caenorhabditis_elegans | ugt-26 | WBGENE00015695 |
| caenorhabditis_elegans | WBGENE00015739 | |
| caenorhabditis_elegans | WBGENE00015965 | |
| caenorhabditis_elegans | WBGENE00016013 | |
| caenorhabditis_elegans | WBGENE00017315 | |
| caenorhabditis_elegans | WBGENE00017329 | |
| caenorhabditis_elegans | WBGENE00017331 | |
| caenorhabditis_elegans | WBGENE00017332 | |
| caenorhabditis_elegans | WBGENE00017333 | |
| caenorhabditis_elegans | WBGENE00017334 | |
| caenorhabditis_elegans | WBGENE00017336 | |
| caenorhabditis_elegans | WBGENE00017959 | |
| caenorhabditis_elegans | WBGENE00018206 | |
| caenorhabditis_elegans | WBGENE00018543 | |
| caenorhabditis_elegans | WBGENE00018931 | |
| caenorhabditis_elegans | WBGENE00019232 | |
| caenorhabditis_elegans | WBGENE00019233 | |
| caenorhabditis_elegans | WBGENE00019234 | |
| caenorhabditis_elegans | WBGENE00019235 | |
| caenorhabditis_elegans | WBGENE00019515 | |
| caenorhabditis_elegans | WBGENE00019516 | |
| caenorhabditis_elegans | WBGENE00020587 | |
| caenorhabditis_elegans | WBGENE00020592 | |
| caenorhabditis_elegans | WBGENE00020593 | |
| caenorhabditis_elegans | WBGENE00020594 | |
| caenorhabditis_elegans | WBGENE00021709 | |
| caenorhabditis_elegans | WBGENE00044282 | |
| caenorhabditis_elegans | WBGENE00044286 |
Paralogs (21): UGT2B10 (ENSG00000109181), UGT2A3 (ENSG00000135220), UGT2B28 (ENSG00000135226), UGT3A1 (ENSG00000145626), UGT2B4 (ENSG00000156096), UGT1A6 (ENSG00000167165), UGT3A2 (ENSG00000168671), UGT2B7 (ENSG00000171234), UGT2A1 (ENSG00000173610), UGT8 (ENSG00000174607), UGT2B15 (ENSG00000196620), UGT2B17 (ENSG00000197888), UGT1A9 (ENSG00000241119), UGT1A1 (ENSG00000241635), UGT1A8 (ENSG00000242366), UGT1A10 (ENSG00000242515), UGT1A7 (ENSG00000244122), UGT1A4 (ENSG00000244474), UGT2A2 (ENSG00000271271), UGT1A3 (ENSG00000288702), UGT1A5 (ENSG00000288705)
Protein
Protein identifiers
UDP-glucuronosyltransferase 2B11 — O75310 (reviewed: O75310)
All UniProt accessions (1): O75310
UniProt curated annotations — full annotation on UniProt →
Function. UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.
Subcellular location. Microsome membrane. Endoplasmic reticulum membrane.
Tissue specificity. Widely expressed.
Similarity. Belongs to the UDP-glycosyltransferase family.
RefSeq proteins (1): NP_001064* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002213 | UDP_glucos_trans | Family |
| IPR035595 | UDP_glycos_trans_CS | Conserved_site |
| IPR050271 | UDP-glycosyltransferase | Family |
Pfam: PF00201
Enzyme classification (BRENDA):
- EC 2.4.1.17 — glucuronosyltransferase (BRENDA: 32 organisms, 1285 substrates, 660 inhibitors, 855 Km, 6 kcat entries)
Substrate kinetics (BRENDA)
189 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 4-METHYLUMBELLIFERONE | 0.0001–4.204 | 44 |
| MORPHINE | 0.0355–37.4 | 31 |
| 4-NITROPHENOL | 0.0102–2 | 24 |
| PROPOFOL | 0.0072–0.9 | 19 |
| ZIDOVUDINE | 0.508–1.54 | 19 |
| 1-NAPHTHOL | 0.0025–27 | 18 |
| IMIPRAMINE | 0.0072–1.442 | 13 |
| TRANS-4-HYDROXYTAMOXIFEN | 0.0037–0.319 | 13 |
| SCOPOLETIN | 0.061–7.64 | 11 |
| SEROTONIN | 3.7–55.9 | 11 |
| 2-HYDROXYESTRONE | 0.0102–6 | 10 |
| CIS-4-HYDROXYTAMOXIFEN | 0.0074–0.193 | 10 |
| DOPAMINE | 1.89–3.11 | 10 |
| 1-HYDROXYBENZO(A)PYRENE | 0.0113–2.869 | 9 |
| 1-HYDROXYPYRENE | 0.0032–2.326 | 9 |
Catalyzed reactions (Rhea), 1 shown:
- glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+) (RHEA:21032)
UniProt features (5 total): signal peptide 1, chain 1, transmembrane region 1, modified residue 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75310-F1 | 93.28 | 0.86 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 135
Glycosylation sites (1): 315
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-156588 | Glucuronidation |
| R-HSA-9749641 | Aspirin ADME |
MSigDB gene sets: 48 (showing top):
REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_REGULATION_OF_HORMONE_LEVELS, chr4q13, GOBP_LIPID_METABOLIC_PROCESS, KEGG_STARCH_AND_SUCROSE_METABOLISM, KEGG_STEROID_HORMONE_BIOSYNTHESIS, VECCHI_GASTRIC_CANCER_EARLY_DN, GOBP_ESTROGEN_METABOLIC_PROCESS, GOBP_STEROID_METABOLIC_PROCESS, KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, KEGG_DRUG_METABOLISM_OTHER_ENZYMES, REACTOME_GLUCURONIDATION, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_HEXOSYLTRANSFERASE_ACTIVITY
GO Biological Process (2): xenobiotic metabolic process (GO:0006805), estrogen metabolic process (GO:0008210)
GO Molecular Function (5): glucuronosyltransferase activity (GO:0015020), protein binding (GO:0005515), UDP-glycosyltransferase activity (GO:0008194), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Phase II - Conjugation of compounds | 1 |
| Drug ADME | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| steroid metabolic process | 1 |
| hormone metabolic process | 1 |
| UDP-glycosyltransferase activity | 1 |
| hexosyltransferase activity | 1 |
| binding | 1 |
| glycosyltransferase activity | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
778 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UGT2B11 | SLC35A2 | P78381 | 883 |
| UGT2B11 | PPIG | Q13427 | 761 |
| UGT2B11 | CYP3A4 | P05184 | 726 |
| UGT2B11 | SLCO1B1 | Q9Y6L6 | 722 |
| UGT2B11 | SULT1C3 | Q6IMI6 | 632 |
| UGT2B11 | SULT1B1 | O43704 | 631 |
| UGT2B11 | CYP2C9 | P11712 | 629 |
| UGT2B11 | CYP1A2 | P05177 | 629 |
| UGT2B11 | SULT1C4 | O75897 | 621 |
| UGT2B11 | CYP2C19 | P33259 | 616 |
| UGT2B11 | CYP2D6 | P10635 | 591 |
| UGT2B11 | SULT2A1 | Q06520 | 589 |
| UGT2B11 | CYP2B6 | P20813 | 589 |
| UGT2B11 | GSTA1 | P08263 | 551 |
| UGT2B11 | CYP2C8 | P10632 | 535 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UGT2B11 | ASPH | psi-mi:“MI:0915”(physical association) | 0.560 |
| UGT2B11 | TMBIM6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UGT2B28 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| ASPH | UGT2B11 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM6 | UGT2B11 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (6): UGT2B11 (Affinity Capture-MS), UGT2B11 (Two-hybrid), UGT2B11 (Two-hybrid), UGT2B11 (Affinity Capture-MS), UGT2B11 (Affinity Capture-MS), UGT2B11 (Affinity Capture-MS)
ESM2 similar proteins: A0A291PQF1, A0A291PQG3, A0A291PQH4, A8WLF6, O16881, O19103, O75310, P08541, P08542, P09875, P16662, P17717, P18569, P19488, P34317, P36511, P36513, P36537, Q09426, Q10941, Q10944, Q16880, Q18081, Q1LZI1, Q20086, Q21706, Q22180, Q22181, Q22295, Q25489, Q27757, Q3SY77, Q3UP75, Q5RFJ3, Q62789, Q63ZR6, Q64676, Q6K1J1, Q6NUS8, Q6PDD0
Diamond homologs: A0A0A1H7N4, A0A0A1HA03, A0A0C1EH92, A0A0D5ZDC8, A0A0G2EAR7, A0A193AU77, A0A193AUF6, A0A1L7U2E9, A0A224AKZ9, A0A224AM54, A0A291PQF1, A0A2Z5CV93, A0A364KRL8, A0A478EC03, B3VI56, F8WKW0, G2WW48, K4GHR9, K4GHS2, K4GKX2, K7NBW3, O02663, O23401, O60656, O75310, O81498, O97951, P06133, P08430, P08542, P09875, P0DTE4, P0DTE5, P17717, P19224, P20720, P22309, P36510, P36513, P36537
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
862 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:69200499:A:C | donor_gain | 1.0000 |
| 4:69200516:A:AC | donor_gain | 1.0000 |
| 4:69200555:T:TA | donor_gain | 1.0000 |
| 4:69200568:A:AC | donor_gain | 1.0000 |
| 4:69200569:C:CC | donor_gain | 1.0000 |
| 4:69200570:TGG:T | donor_gain | 1.0000 |
| 4:69208345:TCTTA:T | donor_loss | 1.0000 |
| 4:69208346:CTTA:C | donor_loss | 1.0000 |
| 4:69208347:TTA:T | donor_loss | 1.0000 |
| 4:69208348:TACCT:T | donor_loss | 1.0000 |
| 4:69208349:A:T | donor_loss | 1.0000 |
| 4:69212731:A:AC | acceptor_gain | 1.0000 |
| 4:69200495:CAAAA:C | donor_gain | 0.9900 |
| 4:69200545:CCCAA:C | donor_gain | 0.9900 |
| 4:69200549:A:AC | donor_gain | 0.9900 |
| 4:69200569:CTG:C | donor_gain | 0.9900 |
| 4:69200571:GGA:G | donor_gain | 0.9900 |
| 4:69204446:CTGT:C | donor_gain | 0.9900 |
| 4:69208479:TTTC:T | acceptor_gain | 0.9900 |
| 4:69208479:TTTCC:T | acceptor_loss | 0.9900 |
| 4:69208480:TTCCT:T | acceptor_loss | 0.9900 |
| 4:69208481:TCC:T | acceptor_loss | 0.9900 |
| 4:69208482:CCT:C | acceptor_loss | 0.9900 |
| 4:69208483:C:CA | acceptor_loss | 0.9900 |
| 4:69208483:C:CC | acceptor_gain | 0.9900 |
| 4:69208484:T:A | acceptor_loss | 0.9900 |
| 4:69212568:TTTAC:T | donor_loss | 0.9900 |
| 4:69212569:TTAC:T | donor_loss | 0.9900 |
| 4:69212570:TA:T | donor_loss | 0.9900 |
| 4:69212572:C:CT | donor_loss | 0.9900 |
AlphaMissense
3524 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:69205561:A:G | W337R | 0.985 |
| 4:69205561:A:T | W337R | 0.985 |
| 4:69204466:A:G | L425P | 0.975 |
| 4:69204593:C:G | A383P | 0.973 |
| 4:69214288:A:C | F145L | 0.971 |
| 4:69214288:A:T | F145L | 0.971 |
| 4:69214290:A:G | F145L | 0.971 |
| 4:69205485:A:G | L362P | 0.968 |
| 4:69208468:A:C | F295L | 0.967 |
| 4:69208468:A:T | F295L | 0.967 |
| 4:69208470:A:G | F295L | 0.967 |
| 4:69214093:C:A | R210S | 0.967 |
| 4:69214093:C:G | R210S | 0.967 |
| 4:69204625:A:T | I372K | 0.965 |
| 4:69205502:C:A | W356C | 0.965 |
| 4:69205502:C:G | W356C | 0.965 |
| 4:69205504:A:G | W356R | 0.964 |
| 4:69205504:A:T | W356R | 0.964 |
| 4:69214210:A:C | S171R | 0.964 |
| 4:69214210:A:T | S171R | 0.964 |
| 4:69214212:T:G | S171R | 0.964 |
| 4:69200632:A:C | F466L | 0.962 |
| 4:69200632:A:T | F466L | 0.962 |
| 4:69200634:A:G | F466L | 0.962 |
| 4:69214621:G:C | S34R | 0.961 |
| 4:69214621:G:T | S34R | 0.961 |
| 4:69214623:T:G | S34R | 0.961 |
| 4:69205553:A:C | F339L | 0.960 |
| 4:69205553:A:T | F339L | 0.960 |
| 4:69205555:A:G | F339L | 0.960 |
dbSNP variants (sampled 300 via entrez): RS1000261670 (4:69224381 A>G), RS1000294357 (4:69219919 G>A,T), RS10007579 (4:69214990 C>A,G,T), RS10007587 (4:69215010 C>G,T), RS1000891814 (4:69205820 A>T), RS1000900923 (4:69212925 G>A), RS1001057716 (4:69200747 A>G), RS1001127443 (4:69208957 A>G), RS10012181 (4:69215036 A>G), RS1001382133 (4:69210716 C>G,T), RS1001494842 (4:69206598 A>G,T), RS1001510690 (4:69216881 A>G), RS1001643371 (4:69210474 A>G), RS1001721056 (4:69218373 T>C), RS1001981997 (4:69209712 G>A,C)
Disease associations
OMIM: gene MIM:603064 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523985 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Phenobarbital | affects expression, decreases expression, increases expression | 3 |
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| methyleugenol | increases expression | 1 |
| 2-hydroxyestriol | increases glucuronidation | 1 |
| sodium arsenite | decreases expression | 1 |
| 4-phenylphenol | increases glucuronidation | 1 |
| 4-nitrophenol | increases glucuronidation | 1 |
| 4-hydroxyestrone | increases glucuronidation | 1 |
| 2-aminophenol | increases glucuronidation | 1 |
| 1-naphthol | increases glucuronidation | 1 |
| obeticholic acid | increases expression | 1 |
| abrine | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Beclomethasone | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Biological Factors | decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Estriol | increases glucuronidation | 1 |
| Hymecromone | increases glucuronidation | 1 |
| Menthol | increases glucuronidation | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | decreases expression | 1 |
| Okadaic Acid | affects expression | 1 |
| Copper Sulfate | decreases expression | 1 |
ChEMBL screening assays
35 unique, capped per target: 35 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4339708 | ADMET | Drug metabolism in human hepatocytes assessed as UGT-mediated glucuronidation by measuring O-glucuronide formation at 10 uM measured after 4 hrs by LC-MS analysis | Discovery of Imidazo[1,2-a]pyrazines and Pyrazolo[1,5-c]pyrimidines as TARP γ-8 Selective AMPAR Negative Modulators. — ACS Med Chem Lett |
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.