UBE3D
gene geneOn this page
Also known as DKFZp434A1520H10BHYJR141W
Summary
UBE3D (ubiquitin protein ligase E3D, HGNC:21381) is a protein-coding gene on chromosome 6q14.1, encoding E3 ubiquitin-protein ligase E3D (Q7Z6J8). E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. It is a selective cancer dependency (DepMap: 11.5% of cell lines).
Enables cyclin binding activity; ubiquitin protein ligase activity; and ubiquitin-like protein conjugating enzyme binding activity. Involved in protein autoubiquitination; protein monoubiquitination; and protein polyubiquitination. Part of ubiquitin ligase complex. Is active in cytosol.
Source: NCBI Gene 90025 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 73 total
- Cancer dependency (DepMap): dependent in 11.5% of screened cell lines
- MANE Select transcript:
NM_198920
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21381 |
| Approved symbol | UBE3D |
| Name | ubiquitin protein ligase E3D |
| Location | 6q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp434A1520, H10BH, YJR141W |
| Ensembl gene | ENSG00000118420 |
| Ensembl biotype | protein_coding |
| OMIM | 612495 |
| Entrez | 90025 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 5 nonsense_mediated_decay, 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000237186, ENST00000369746, ENST00000369747, ENST00000430071, ENST00000503942, ENST00000505226, ENST00000509102, ENST00000626828, ENST00000910309, ENST00000917834, ENST00000917835
RefSeq mRNA: 6 — MANE Select: NM_198920
NM_001304437, NM_001350602, NM_001350603, NM_001350604, NM_001410933, NM_198920
CCDS: CCDS34491, CCDS93953
Canonical transcript exons
ENST00000369747 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002050287 | 83065642 | 83065841 |
| ENSE00003475133 | 83057826 | 83058022 |
| ENSE00003489455 | 82957312 | 82957450 |
| ENSE00003502521 | 82892390 | 82893042 |
| ENSE00003568689 | 83018973 | 83019136 |
| ENSE00003617859 | 83044428 | 83044659 |
| ENSE00003624043 | 83054148 | 83054238 |
| ENSE00003633480 | 83023969 | 83024038 |
| ENSE00003650429 | 83038416 | 83038485 |
| ENSE00003692750 | 83022453 | 83022561 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 93.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6539 / max 233.9773, expressed in 1681 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 74549 | 7.1123 | 1654 |
| 74548 | 1.4711 | 515 |
| 74547 | 0.0705 | 31 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 93.20 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.92 | gold quality |
| bronchial epithelial cell | CL:0002328 | 83.61 | gold quality |
| bronchus | UBERON:0002185 | 82.27 | gold quality |
| right uterine tube | UBERON:0001302 | 81.67 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 79.44 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.64 | gold quality |
| caudate nucleus | UBERON:0001873 | 78.18 | gold quality |
| hypothalamus | UBERON:0001898 | 77.81 | gold quality |
| oviduct epithelium | UBERON:0004804 | 77.81 | gold quality |
| putamen | UBERON:0001874 | 77.15 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 77.10 | gold quality |
| islet of Langerhans | UBERON:0000006 | 76.77 | gold quality |
| cortical plate | UBERON:0005343 | 76.47 | gold quality |
| calcaneal tendon | UBERON:0003701 | 75.95 | gold quality |
| colonic epithelium | UBERON:0000397 | 75.94 | gold quality |
| right frontal lobe | UBERON:0002810 | 75.78 | gold quality |
| fallopian tube | UBERON:0003889 | 75.60 | gold quality |
| nucleus accumbens | UBERON:0001882 | 75.57 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 75.53 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 75.31 | gold quality |
| prefrontal cortex | UBERON:0000451 | 75.30 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 75.20 | gold quality |
| body of pancreas | UBERON:0001150 | 75.11 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 75.10 | gold quality |
| pancreas | UBERON:0001264 | 75.00 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 74.95 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 74.54 | gold quality |
| cerebellar cortex | UBERON:0002129 | 74.39 | gold quality |
| amygdala | UBERON:0001876 | 74.34 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.43 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
43 targeting UBE3D, 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-106A-3P | 99.53 | 67.58 | 995 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-136-5P | 99.50 | 67.26 | 1153 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-4427 | 99.34 | 70.33 | 1854 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-548L | 99.06 | 70.90 | 2560 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-1294 | 98.91 | 69.26 | 1030 |
| HSA-MIR-9986 | 98.91 | 69.28 | 1024 |
| HSA-MIR-382-3P | 98.83 | 67.10 | 1074 |
| HSA-MIR-501-5P | 98.77 | 68.88 | 1328 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 11.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- The carboxyl terminal half of H10BH was able to bind cyclin B and ubiquitinylate cyclin B in vitro. (PMID:15749827)
- A novel missense SNV, rs7739323, is strongly associated with age-related macular degeneration in an East Asian population. (PMID:25872646)
- With the exception of associations of BEGAIN with severe and UBE3D with moderate chronic periodontitis (CP) , no other loci were associated with CP in ARIC or aggressive periodontitis in the German sample. (PMID:26962152)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ube3d | ENSDARG00000026178 |
| mus_musculus | Ube3d | ENSMUSG00000032415 |
| rattus_norvegicus | Ube3d | ENSRNOG00000010802 |
| caenorhabditis_elegans | WBGENE00022168 |
Protein
Protein identifiers
E3 ubiquitin-protein ligase E3D — Q7Z6J8 (reviewed: Q7Z6J8)
Alternative names: HECT-type E3 ubiquitin transferase E3D, UbcH10-binding protein with a HECT-like domain, Ubiquitin-conjugating enzyme E2C-binding protein
All UniProt accessions (6): Q7Z6J8, D6RD24, D6RHY9, H0Y359, J3KMY4, Q4G0X5
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Independently of its E3 ubiquitin-protein ligase activity, acts as an inhibitor of CPSF3 endonuclease activity by blocking CPSF3 active site.
Subunit / interactions. Interacts with UBE2C/UbcH10 (E2 ubiquitin-conjugating enzyme). In vitro, interacts with cyclin-B.
Subcellular location. Cytoplasm.
Post-translational modifications. Ubiquitinated by UBCH10 (E2 ubiquitin-conjugating enzyme).
Domain organisation. The C-terminal half (AA 188-389) is able to bind cyclin-B and shows a self-ubiquitination activity (mono-, poly, or multi-ubiquitination) in a HECT-like sequence dependent manner. The BRAT1-like motif mediates inhibition of the endonuclease activity of CPSF3 by forming hydrogen bond and hydrophobic interactions with the active site of CPSF3: Cys-144 coordinates one of the two active site zinc ions of CPSF3.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (6): NP_001291366, NP_001337531, NP_001337532, NP_001337533, NP_001397862, NP_944602* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019193 | UBQ-conj_enz_E2-bd_prot | Family |
Pfam: PF09814
UniProt features (11 total): sequence conflict 2, region of interest 2, sequence variant 2, initiator methionine 1, chain 1, short sequence motif 1, binding site 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z6J8-F1 | 79.34 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 144
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 122 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_PROTEIN_AUTOUBIQUITINATION, TGIF_01, GOBP_PROTEIN_MONOUBIQUITINATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, STONER_ESOPHAGEAL_CARCINOGENESIS_DN, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, RIGGI_EWING_SARCOMA_PROGENITOR_UP, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS
GO Biological Process (5): protein polyubiquitination (GO:0000209), protein monoubiquitination (GO:0006513), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein autoubiquitination (GO:0051865), protein ubiquitination (GO:0016567)
GO Molecular Function (7): ribonuclease inhibitor activity (GO:0008428), cyclin binding (GO:0030332), ubiquitin conjugating enzyme binding (GO:0031624), ubiquitin-like protein conjugating enzyme binding (GO:0044390), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (4): ubiquitin ligase complex (GO:0000151), nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein ubiquitination | 3 |
| cellular anatomical structure | 2 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| RNA nuclease activity | 1 |
| nuclease inhibitor activity | 1 |
| protein binding | 1 |
| ubiquitin-like protein conjugating enzyme binding | 1 |
| enzyme binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
492 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UBE3D | UBE2C | O00762 | 935 |
| UBE3D | CBLL2 | Q8N7E2 | 589 |
| UBE3D | ARIH2 | O95376 | 524 |
| UBE3D | PUDP | Q08623 | 450 |
| UBE3D | C6orf163 | Q5TEZ5 | 447 |
| UBE3D | CSTF3 | Q12996 | 443 |
| UBE3D | FBXO42 | Q6P3S6 | 428 |
| UBE3D | NOL9 | Q5SY16 | 396 |
| UBE3D | FCF1 | Q9Y324 | 392 |
| UBE3D | CPSF3 | Q9UKF6 | 391 |
| UBE3D | RWDD2A | Q9UIY3 | 386 |
| UBE3D | SNAPC3 | Q92966 | 384 |
| UBE3D | CEP162 | Q5TB80 | 377 |
| UBE3D | ZNF668 | Q96K58 | 377 |
| UBE3D | SMIM8 | Q96KF7 | 373 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCM2 | KRIT1 | psi-mi:“MI:0914”(association) | 0.960 |
| LMO1 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.830 |
| DNAAF2 | UBE3D | psi-mi:“MI:0914”(association) | 0.780 |
| UBE3D | DNAAF2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| DNAAF2 | UBE3D | psi-mi:“MI:0915”(physical association) | 0.780 |
| CPSF3 | CPSF4 | psi-mi:“MI:0914”(association) | 0.640 |
| MAGEA11 | UBE3D | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.550 |
| DEFA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| FKBP6 | EEF2K | psi-mi:“MI:0914”(association) | 0.530 |
| KLHDC2 | PFDN1 | psi-mi:“MI:0914”(association) | 0.530 |
| UBE3D | STIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
| C1QTNF9B | PLOD3 | psi-mi:“MI:0914”(association) | 0.530 |
| UBE3D | PPP5C | psi-mi:“MI:0915”(physical association) | 0.400 |
| CPSF3 | P4HA2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCM2 | KRIT1 | psi-mi:“MI:0914”(association) | 0.350 |
| MEMO1 | TARBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPZB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| TCTN2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| NXPH1 | RAD51C | psi-mi:“MI:0914”(association) | 0.350 |
| LCN9 | C1QL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MEMO1 | HMBOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| LMO1 | LMX1B | psi-mi:“MI:0914”(association) | 0.350 |
| ATG101 | FIBP | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (70): UBE3D (Affinity Capture-MS), UBE3D (Affinity Capture-MS), UBE3D (Affinity Capture-MS), DNAAF2 (Affinity Capture-MS), UBE3D (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), SUFU (Affinity Capture-MS), UBE3D (Affinity Capture-MS), HSP90AB4P (Affinity Capture-MS), UBE3D (Affinity Capture-MS), UBE3D (Affinity Capture-MS), UBE3D (Affinity Capture-MS), STIP1 (Affinity Capture-MS), BORA (Affinity Capture-MS), TUBA4A (Affinity Capture-MS)
ESM2 similar proteins: A1KXW8, A6QL50, E1BGQ2, H0Y354, O94955, P47224, Q08326, Q0IIH8, Q1JQA1, Q1RMS8, Q1RMZ1, Q2TBU5, Q3T1H6, Q4R372, Q4R528, Q4R9C4, Q5F480, Q5F4A1, Q5I0G3, Q5RCQ0, Q5RFG8, Q5TFE4, Q5TYM5, Q641X7, Q6L9T8, Q6PIP5, Q7L622, Q7Z6J8, Q7ZX59, Q86X60, Q8BFZ8, Q8BKW4, Q8BM85, Q8BX13, Q8CEL2, Q8N5C7, Q8N635, Q8NHU2, Q8TCF1, Q8TCJ0
Diamond homologs: Q1JQA1, Q3T1H6, Q5RFG8, Q7Z6J8, Q8BX13
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3605 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:82936951:AGGT:A | donor_gain | 1.0000 |
| 6:83022560:ACC:A | acceptor_loss | 1.0000 |
| 6:83024039:C:CC | acceptor_gain | 1.0000 |
| 6:83040612:ATT:A | donor_gain | 1.0000 |
| 6:83057824:A:AC | donor_gain | 1.0000 |
| 6:83057825:C:CC | donor_gain | 1.0000 |
| 6:83065640:ACC:A | donor_gain | 1.0000 |
| 6:83065641:CCC:C | donor_gain | 1.0000 |
| 6:82893962:AC:A | donor_gain | 0.9900 |
| 6:82893963:CC:C | donor_gain | 0.9900 |
| 6:82936951:A:AC | donor_gain | 0.9900 |
| 6:82936952:G:C | donor_gain | 0.9900 |
| 6:82957306:GCTCA:G | donor_loss | 0.9900 |
| 6:82957307:CTCAC:C | donor_loss | 0.9900 |
| 6:82957308:TCACC:T | donor_loss | 0.9900 |
| 6:82957309:CAC:C | donor_loss | 0.9900 |
| 6:82957310:A:AG | donor_loss | 0.9900 |
| 6:82957311:C:CA | donor_loss | 0.9900 |
| 6:82957446:CAAGT:C | acceptor_gain | 0.9900 |
| 6:82957451:C:CC | acceptor_gain | 0.9900 |
| 6:83019132:CATAG:C | acceptor_gain | 0.9900 |
| 6:83022447:TCTTA:T | donor_loss | 0.9900 |
| 6:83022448:CTTA:C | donor_loss | 0.9900 |
| 6:83022449:TTA:T | donor_loss | 0.9900 |
| 6:83022450:TACCA:T | donor_loss | 0.9900 |
| 6:83022451:A:G | donor_loss | 0.9900 |
| 6:83022564:G:C | acceptor_loss | 0.9900 |
| 6:83038410:TCTTA:T | donor_loss | 0.9900 |
| 6:83038411:CTTAC:C | donor_loss | 0.9900 |
| 6:83038412:TTAC:T | donor_loss | 0.9900 |
AlphaMissense
2549 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:83038458:A:G | C209R | 0.988 |
| 6:83054182:A:G | C111R | 0.985 |
| 6:83054180:G:C | C111W | 0.983 |
| 6:83019133:A:G | W284R | 0.980 |
| 6:83019133:A:T | W284R | 0.980 |
| 6:83044601:A:G | W142R | 0.980 |
| 6:83044601:A:T | W142R | 0.980 |
| 6:83019004:A:C | Y327D | 0.979 |
| 6:82957379:A:G | L361P | 0.978 |
| 6:83019009:A:T | V325D | 0.978 |
| 6:83038449:A:G | C212R | 0.975 |
| 6:83038456:A:C | C209W | 0.975 |
| 6:83054173:A:G | C114R | 0.975 |
| 6:83038448:C:G | C212S | 0.974 |
| 6:83038449:A:T | C212S | 0.974 |
| 6:83022489:G:C | F270L | 0.973 |
| 6:83022489:G:T | F270L | 0.973 |
| 6:83022490:A:G | F270S | 0.973 |
| 6:83022491:A:G | F270L | 0.973 |
| 6:83038457:C:T | C209Y | 0.973 |
| 6:83019011:C:A | K324N | 0.972 |
| 6:83019011:C:G | K324N | 0.972 |
| 6:83022495:A:C | F268L | 0.971 |
| 6:83022495:A:T | F268L | 0.971 |
| 6:83022497:A:G | F268L | 0.971 |
| 6:83054172:C:T | C114Y | 0.970 |
| 6:83038433:C:T | G217E | 0.969 |
| 6:83038457:C:G | C209S | 0.969 |
| 6:83038458:A:T | C209S | 0.969 |
| 6:82957437:A:G | W342R | 0.968 |
dbSNP variants (sampled 300 via entrez): RS1000019849 (6:83056922 A>G), RS1000030866 (6:83009595 A>G), RS1000032400 (6:82921211 C>T), RS1000074211 (6:83015068 C>G), RS1000121421 (6:82928801 A>G), RS1000129946 (6:82943004 G>A), RS1000135404 (6:82951150 A>G), RS1000164450 (6:83000448 C>A,G), RS1000174916 (6:82989536 C>T), RS1000175441 (6:82992286 G>A,C,T), RS1000192978 (6:82958806 A>G,T), RS1000200839 (6:83044208 G>C), RS1000207826 (6:82903004 T>C), RS1000208453 (6:82905357 A>G,T), RS1000210533 (6:83032887 C>A,T)
Disease associations
OMIM: gene MIM:612495 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003360_3 | Crohn’s disease | 2.000000e-11 |
| GCST003901_8 | Cognitive decline (age-related) | 1.000000e-06 |
| GCST006288_130 | Heel bone mineral density | 5.000000e-12 |
| GCST006288_553 | Heel bone mineral density | 5.000000e-13 |
| GCST006979_299 | Heel bone mineral density | 2.000000e-33 |
| GCST009177_5 | Entorhinal cortical volume | 9.000000e-06 |
| GCST010988_368 | Adult body size | 5.000000e-09 |
| GCST012291_7 | Schizophrenia, bipolar disorder or recurrent major depressive disorder | 3.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
| EFO:0005092 | entorhinal cortical volume |
| EFO:0004952 | disease recurrence |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects cotreatment, decreases expression, affects expression | 7 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| zinc chromate | affects expression, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| chromium hexavalent ion | affects expression, increases abundance | 1 |
| entinostat | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Calcitriol | affects cotreatment, decreases expression | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | increases expression, affects cotreatment | 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.