PELI3
gene geneOn this page
Also known as MGC35521
Summary
PELI3 (pellino E3 ubiquitin protein ligase family member 3, HGNC:30010) is a protein-coding gene on chromosome 11q13.2, encoding E3 ubiquitin-protein ligase pellino homolog 3 (Q8N2H9). E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
The protein encoded by this gene is a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from Toll-like receptors to IRAK1/TRAF6 complexes. Several transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 246330 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 33 total
- MANE Select transcript:
NM_145065
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30010 |
| Approved symbol | PELI3 |
| Name | pellino E3 ubiquitin protein ligase family member 3 |
| Location | 11q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC35521 |
| Ensembl gene | ENSG00000174516 |
| Ensembl biotype | protein_coding |
| OMIM | 609827 |
| Entrez | 246330 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 17 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000320740, ENST00000349459, ENST00000524466, ENST00000526296, ENST00000527230, ENST00000528752, ENST00000531856, ENST00000532970, ENST00000618547, ENST00000904606, ENST00000904607, ENST00000904608, ENST00000904609, ENST00000939615, ENST00000972025, ENST00000972026, ENST00000972027, ENST00000972028, ENST00000972029
RefSeq mRNA: 4 — MANE Select: NM_145065
NM_001098510, NM_001243135, NM_001243136, NM_145065
CCDS: CCDS31615, CCDS41675, CCDS73328
Canonical transcript exons
ENST00000320740 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001188900 | 66468833 | 66468904 |
| ENSE00001188939 | 66472369 | 66472470 |
| ENSE00001188948 | 66468128 | 66468280 |
| ENSE00001363502 | 66466905 | 66467027 |
| ENSE00002201832 | 66475598 | 66477337 |
| ENSE00003495576 | 66471242 | 66471371 |
| ENSE00003587961 | 66473737 | 66473925 |
| ENSE00003629756 | 66473241 | 66473435 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 96.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.0464 / max 68.3234, expressed in 1674 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 115342 | 6.0464 | 1674 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 96.35 | gold quality |
| endothelial cell | CL:0000115 | 95.73 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 95.38 | gold quality |
| primary visual cortex | UBERON:0002436 | 93.32 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 93.17 | gold quality |
| pons | UBERON:0000988 | 92.92 | gold quality |
| occipital lobe | UBERON:0002021 | 92.90 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 92.56 | gold quality |
| cerebellar vermis | UBERON:0004720 | 92.15 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.84 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 91.72 | gold quality |
| medial globus pallidus | UBERON:0002477 | 91.28 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.27 | gold quality |
| frontal cortex | UBERON:0001870 | 91.11 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 90.98 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.69 | gold quality |
| globus pallidus | UBERON:0001875 | 90.63 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 90.30 | gold quality |
| neocortex | UBERON:0001950 | 90.24 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 90.02 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.99 | gold quality |
| ventral tegmental area | UBERON:0002691 | 89.68 | gold quality |
| medulla oblongata | UBERON:0001896 | 89.67 | gold quality |
| parietal lobe | UBERON:0001872 | 89.61 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.33 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 89.29 | gold quality |
| kidney epithelium | UBERON:0004819 | 88.94 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 88.89 | gold quality |
| postcentral gyrus | UBERON:0002581 | 88.81 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.74 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting PELI3, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-548Q | 98.71 | 65.35 | 563 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-6792-3P | 98.41 | 66.86 | 1359 |
| HSA-MIR-4691-5P | 98.41 | 66.77 | 1343 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-4469 | 97.93 | 65.81 | 1319 |
| HSA-MIR-3144-5P | 97.64 | 65.45 | 646 |
| HSA-MIR-4308 | 97.56 | 67.13 | 1385 |
| HSA-MIR-3127-5P | 97.52 | 65.24 | 786 |
Literature-anchored findings (GeneRIF, showing 11)
- Pellino3 is a novel upstream regulator of p38 MAPK that activates CREB in a p38-dependent manner (PMID:15917247)
- suggest that Pellino 3b acts as a negative regulator for IL-1 signaling by regulating IRAK degradation through its ubiquitin protein ligase activity [Pellino 3b] (PMID:18326498)
- Our findings identify RIP2 as a substrate for Pellino3 and Pellino3 as an important mediator in the Nod2 pathway and regulator of intestinal inflammation. (PMID:23892723)
- Peptide PEL3 derived from the interleukin-1 receptor-associated kinase (IRAK)1-binding motif reveals a distinct phosphothreonine peptide binding preference. (PMID:25027698)
- Pellino-3 is involved in endotoxin tolerance and functions as a negative regulator of Toll-like receptor 2/4 signaling. (PMID:26310831)
- The combination of low Pellino3 levels together with high and inducible Pellino1 expression may be an important determinant of the degree of inflammation triggered upon Toll-like receptor 2 engagement by Helicobacter pylori and/or its components, contributing to Helicobacter pylori-associated pathogenesis by directing the incoming signal toward an NF-kB-mediated proinflammatory response. (PMID:27302665)
- Two protective, low-frequency, non-synonymous variants were significantly associated with a decrease in age-related macular degeneration (AMD)risk: A307V in PELI3 and N1050Y in CFH .We also identified a strong protective signal for a common variant (rs8056814) near CTRB1 associated with a decrease in AMD risk (logistic regression: OR = 0.71, P = 1.8 x 10-07). (PMID:28011711)
- PELI3 gene expression in blood and ovarian cancer. (PMID:31520466)
- Long Non-coding RNA MIAT Mediates Non-small Cell Lung Cancer Development Through Regulating the miR-128-3p/PELI3 Axis. (PMID:32556677)
- miR-365a-5p suppresses gefitinib resistance in non-small-cell lung cancer through targeting PELI3. (PMID:32635799)
- Pellino3 ligase negatively regulates influenza B dependent RIG-I signalling through downregulation of TRAF3-mediated induction of the transcription factor IRF3 and IFNbeta production. (PMID:36861386)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | peli3 | ENSDARG00000087452 |
| mus_musculus | Peli3 | ENSMUSG00000024901 |
| rattus_norvegicus | Peli3 | ENSRNOG00000019950 |
| drosophila_melanogaster | Pli | FBGN0025574 |
| caenorhabditis_elegans | WBGENE00017766 |
Paralogs (2): PELI2 (ENSG00000139946), PELI1 (ENSG00000197329)
Protein
Protein identifiers
E3 ubiquitin-protein ligase pellino homolog 3 — Q8N2H9 (reviewed: Q8N2H9)
All UniProt accessions (5): Q8N2H9, E9PI91, E9PQX6, E9PR85, H0YEM6
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates ‘Lys-63’-linked polyubiquitination of IRAK1. Can activate AP1/JUN and ELK1. Acts as a regulator of innate immunity by mediating ‘Lys-63’-linked polyubiquitination of RIPK2 downstream of NOD1 and NOD2, thereby transforming RIPK2 into a scaffolding protein for downstream effectors, ultimately leading to activation of the NF-kappa-B and MAP kinases signaling. Catalyzes ‘Lys-63’-linked polyubiquitination of RIPK2 in parallel of XIAP.
Subunit / interactions. Interacts with TRAF6, MAP3K14 and MAP3K7.
Tissue specificity. Highly expressed in brain, heart and testis, and at lower level in kidney, liver, lung, placenta, small intestine, spleen and stomach. Isoform 1 is not expressed in lung.
Post-translational modifications. Phosphorylated by IRAK1 enhancing its E3 ligase activity.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the pellino family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N2H9-1 | 1, Alpha, A | yes |
| Q8N2H9-2 | 2, Beta, B | |
| Q8N2H9-3 | 3 | |
| Q8N2H9-4 | 4 |
RefSeq proteins (4): NP_001091980, NP_001230064, NP_001230065, NP_659502* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006800 | Pellino_fam | Family |
| IPR048334 | Pellino_FHA | Domain |
| IPR048335 | Pellino_RING | Domain |
Pfam: PF04710, PF20723
UniProt features (10 total): splice variant 4, sequence conflict 2, chain 1, region of interest 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N2H9-F1 | 81.91 | 0.59 |
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): 11
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-9020702 | Interleukin-1 signaling |
| R-HSA-937039 | IRAK1 recruits IKK complex |
| R-HSA-975144 | IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation |
MSigDB gene sets: 80 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, CAGGTCC_MIR492, CACCAGC_MIR138, chr11q13, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, E4F1_Q6, GOBP_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION
GO Biological Process (8): regulation of Toll signaling pathway (GO:0008592), negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804), innate immune response (GO:0045087), protein K63-linked ubiquitination (GO:0070534), negative regulation of extrinsic apoptotic signaling pathway (GO:2001237), protein polyubiquitination (GO:0000209), immune system process (GO:0002376), protein ubiquitination (GO:0016567)
GO Molecular Function (3): ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (1): cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Interleukin-1 family signaling | 1 |
| MyD88:MAL(TIRAP) cascade initiated on plasma membrane | 1 |
| MyD88 cascade initiated on plasma membrane | 1 |
| TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| Toll signaling pathway | 1 |
| regulation of signal transduction | 1 |
| negative regulation of cytokine-mediated signaling pathway | 1 |
| regulation of tumor necrosis factor-mediated signaling pathway | 1 |
| tumor necrosis factor-mediated signaling pathway | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| protein polyubiquitination | 1 |
| extrinsic apoptotic signaling pathway | 1 |
| negative regulation of apoptotic signaling pathway | 1 |
| regulation of extrinsic apoptotic signaling pathway | 1 |
| protein ubiquitination | 1 |
| biological_process | 1 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
674 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PELI3 | IRAK1 | P51617 | 971 |
| PELI3 | TRAF6 | Q9Y4K3 | 832 |
| PELI3 | IRAK4 | Q9NWZ3 | 749 |
| PELI3 | TAB1 | Q15750 | 665 |
| PELI3 | TLR4 | O00206 | 600 |
| PELI3 | RIPK2 | O43353 | 599 |
| PELI3 | MAP3K7 | O43318 | 595 |
| PELI3 | TOLLIP | Q9H0E2 | 586 |
| PELI3 | MYD88 | P78397 | 586 |
| PELI3 | MAPKAPK2 | P49137 | 569 |
| PELI3 | MAP3K14 | Q99558 | 545 |
| PELI3 | IL1R1 | P14778 | 540 |
| PELI3 | SMAD6 | O43541 | 529 |
| PELI3 | TAB2 | Q9NYJ8 | 507 |
| PELI3 | ECSIT | Q9BQ95 | 490 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIK3R3 | PELI3 | psi-mi:“MI:0915”(physical association) | 0.570 |
| PELI3 | PRKACG | psi-mi:“MI:0915”(physical association) | 0.400 |
| PELI3 | TRAF6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PELI3 | IRAK1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CAMK2G | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
| PELI3 | ZNF195 | psi-mi:“MI:0914”(association) | 0.350 |
| ADORA1 | SORBS3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (78): IRAK1 (Affinity Capture-Western), UQCRFS1 (Affinity Capture-Western), TRAF6 (Affinity Capture-Western), KANK2 (Affinity Capture-MS), STUB1 (Affinity Capture-MS), DNAJB4 (Affinity Capture-MS), PELI3 (Two-hybrid), PIK3R3 (Affinity Capture-Luminescence), PELI3 (Synthetic Lethality), PELI3 (Two-hybrid), PELI3 (Two-hybrid), PELI3 (Affinity Capture-RNA), PRKACG (Affinity Capture-MS), PELI3 (Affinity Capture-MS), TUBA1A (Affinity Capture-MS)
ESM2 similar proteins: A2VE39, A2X0Q3, D2HRF1, D3ZVK1, E1BMF7, I0IUP3, O42130, O42131, O46374, O76808, O77237, P11388, P24785, P41515, P41516, Q01320, Q02880, Q10322, Q1MTD3, Q24498, Q298L5, Q3SZ41, Q4VSI4, Q5R981, Q5RFK6, Q5U2Z5, Q64399, Q64511, Q6A4J8, Q6ESI7, Q6GQ76, Q6NUA1, Q6NUH3, Q6YXZ7, Q6Z9U7, Q803R5, Q8AVL0, Q8BXR6, Q8IMX7, Q8K224
Diamond homologs: O77237, Q8BST6, Q8BXR6, Q8C669, Q8N2H9, Q96FA3, Q9HAT8
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IRAK1 | up-regulates | PELI3 | phosphorylation |
| PELI3 | up-regulates | ELK1 | |
| PELI3 | up-regulates | JUN | |
| PELI3 | up-regulates | IRAK1 | ubiquitination |
| PELI3 | “down-regulates quantity” | TRAF6 | ubiquitination |
| PELI3 | “up-regulates activity” | RIPK2 | ubiquitination |
| PELI3 | “down-regulates activity” | IRF4 | ubiquitination |
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 | 28 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1224 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:66468121:T:TA | acceptor_gain | 1.0000 |
| 11:66468126:AGAAT:A | acceptor_gain | 1.0000 |
| 11:66468127:GAATG:G | acceptor_gain | 1.0000 |
| 11:66471207:T:A | acceptor_gain | 1.0000 |
| 11:66471210:A:AG | acceptor_gain | 1.0000 |
| 11:66471211:A:G | acceptor_gain | 1.0000 |
| 11:66471224:A:AG | acceptor_gain | 1.0000 |
| 11:66471225:A:G | acceptor_gain | 1.0000 |
| 11:66471234:A:AG | acceptor_gain | 1.0000 |
| 11:66471237:TACA:T | acceptor_loss | 1.0000 |
| 11:66471238:ACAG:A | acceptor_loss | 1.0000 |
| 11:66471239:C:G | acceptor_gain | 1.0000 |
| 11:66471239:CAGCT:C | acceptor_loss | 1.0000 |
| 11:66471240:A:AG | acceptor_gain | 1.0000 |
| 11:66471241:G:GT | acceptor_gain | 1.0000 |
| 11:66471241:GC:G | acceptor_gain | 1.0000 |
| 11:66471241:GCT:G | acceptor_gain | 1.0000 |
| 11:66471241:GCTAC:G | acceptor_gain | 1.0000 |
| 11:66473239:A:AG | acceptor_gain | 1.0000 |
| 11:66473239:AG:A | acceptor_loss | 1.0000 |
| 11:66473239:AGATT:A | acceptor_gain | 1.0000 |
| 11:66473240:G:GA | acceptor_gain | 1.0000 |
| 11:66473240:GA:G | acceptor_gain | 1.0000 |
| 11:66473240:GATT:G | acceptor_gain | 1.0000 |
| 11:66473240:GATTG:G | acceptor_gain | 1.0000 |
| 11:66473431:TTGGA:T | donor_gain | 1.0000 |
| 11:66473432:TGGA:T | donor_gain | 1.0000 |
| 11:66473433:GGA:G | donor_gain | 1.0000 |
| 11:66473433:GGAG:G | donor_gain | 1.0000 |
| 11:66473434:GA:G | donor_gain | 1.0000 |
AlphaMissense
3008 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:66472438:T:G | Y142D | 1.000 |
| 11:66473244:G:C | G154R | 1.000 |
| 11:66473245:G:A | G154D | 1.000 |
| 11:66473245:G:T | G154V | 1.000 |
| 11:66473247:C:A | R155S | 1.000 |
| 11:66473248:G:C | R155P | 1.000 |
| 11:66473269:A:T | D162V | 1.000 |
| 11:66473335:T:A | I184N | 1.000 |
| 11:66473340:C:A | R186S | 1.000 |
| 11:66473340:C:G | R186G | 1.000 |
| 11:66473352:C:A | R190S | 1.000 |
| 11:66473353:G:C | R190P | 1.000 |
| 11:66473404:G:A | G207D | 1.000 |
| 11:66473406:T:A | F208I | 1.000 |
| 11:66473406:T:C | F208L | 1.000 |
| 11:66473406:T:G | F208V | 1.000 |
| 11:66473407:T:C | F208S | 1.000 |
| 11:66473407:T:G | F208C | 1.000 |
| 11:66473408:C:A | F208L | 1.000 |
| 11:66473408:C:G | F208L | 1.000 |
| 11:66473425:T:A | I214N | 1.000 |
| 11:66473425:T:C | I214T | 1.000 |
| 11:66473425:T:G | I214S | 1.000 |
| 11:66473427:T:C | F215L | 1.000 |
| 11:66473429:C:A | F215L | 1.000 |
| 11:66473429:C:G | F215L | 1.000 |
| 11:66473434:G:A | G217E | 1.000 |
| 11:66473752:T:A | W223R | 1.000 |
| 11:66473752:T:C | W223R | 1.000 |
| 11:66473780:G:A | G232E | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000016908 (11:66466987 G>C), RS1000087031 (11:66467246 C>T), RS1000095733 (11:66467965 G>A), RS1000873232 (11:66468650 T>C), RS1001260299 (11:66468746 C>G,T), RS1001366635 (11:66474305 T>C), RS1002233999 (11:66467413 G>A,C,T), RS1002304584 (11:66467638 A>C,G), RS1002564110 (11:66474484 C>T), RS1002800879 (11:66476242 T>C), RS1003180821 (11:66475893 C>T), RS1003553778 (11:66477575 C>G), RS1003606802 (11:66470403 A>G), RS1004106600 (11:66474803 C>T), RS1004144697 (11:66469626 G>A)
Disease associations
OMIM: gene MIM:609827 | 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 |
|---|---|---|
| GCST001241_12 | Bipolar disorder | 2.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression, increases methylation | 3 |
| Cisplatin | affects cotreatment, increases expression | 2 |
| Valproic Acid | affects expression, increases expression, increases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| pinostrobin | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| Methotrexate | increases expression | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases 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.