PELI2
gene geneOn this page
Summary
PELI2 (pellino E3 ubiquitin protein ligase family member 2, HGNC:8828) is a protein-coding gene on chromosome 14q22.3, encoding E3 ubiquitin-protein ligase pellino homolog 2 (Q9HAT8). E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
Predicted to enable protein-macromolecule adaptor activity and ubiquitin protein ligase activity. Acts upstream of or within positive regulation of MAPK cascade and positive regulation of protein phosphorylation. Predicted to be located in cytosol.
Source: NCBI Gene 57161 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 65 total
- MANE Select transcript:
NM_021255
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8828 |
| Approved symbol | PELI2 |
| Name | pellino E3 ubiquitin protein ligase family member 2 |
| Location | 14q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000139946 |
| Ensembl biotype | protein_coding |
| OMIM | 614798 |
| Entrez | 57161 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000267460, ENST00000559044, ENST00000561019, ENST00000705193
RefSeq mRNA: 1 — MANE Select: NM_021255
NM_021255
CCDS: CCDS9726
Canonical transcript exons
ENST00000267460 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001093822 | 56288437 | 56288634 |
| ENSE00001093824 | 56290268 | 56290456 |
| ENSE00001193572 | 56296600 | 56301524 |
| ENSE00001259120 | 56118411 | 56118737 |
| ENSE00003469520 | 56279676 | 56279777 |
| ENSE00003590243 | 56178335 | 56178464 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 96.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.7120 / max 401.6199, expressed in 1341 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 139758 | 10.4547 | 1303 |
| 139759 | 0.4700 | 227 |
| 139757 | 0.4556 | 237 |
| 139766 | 0.2548 | 141 |
| 139756 | 0.0468 | 15 |
| 139755 | 0.0300 | 9 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 96.60 | gold quality |
| cortical plate | UBERON:0005343 | 92.78 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.49 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.18 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.12 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.63 | gold quality |
| monocyte | CL:0000576 | 88.13 | gold quality |
| mononuclear cell | CL:0000842 | 88.03 | gold quality |
| body of pancreas | UBERON:0001150 | 87.94 | gold quality |
| leukocyte | CL:0000738 | 87.68 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 86.30 | gold quality |
| blood | UBERON:0000178 | 86.18 | gold quality |
| sural nerve | UBERON:0015488 | 86.09 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 86.01 | gold quality |
| retina | UBERON:0000966 | 85.99 | gold quality |
| nephron tubule | UBERON:0001231 | 85.53 | gold quality |
| hair follicle | UBERON:0002073 | 85.42 | silver quality |
| embryo | UBERON:0000922 | 85.31 | gold quality |
| visceral pleura | UBERON:0002401 | 85.24 | gold quality |
| pancreas | UBERON:0001264 | 85.20 | gold quality |
| renal glomerulus | UBERON:0000074 | 85.03 | gold quality |
| tendon | UBERON:0000043 | 84.34 | gold quality |
| bone marrow | UBERON:0002371 | 83.90 | gold quality |
| left ovary | UBERON:0002119 | 83.69 | gold quality |
| buccal mucosa cell | CL:0002336 | 83.68 | gold quality |
| tibia | UBERON:0000979 | 83.49 | gold quality |
| ovary | UBERON:0000992 | 83.09 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 82.69 | silver quality |
| kidney epithelium | UBERON:0004819 | 82.54 | gold quality |
| popliteal artery | UBERON:0002250 | 82.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.85 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
228 targeting PELI2, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
Literature-anchored findings (GeneRIF, showing 9)
- interacts with TRAF6 (tumor necrosis factor receptor associated factor 6) and TAK1 (transforming growth factor-beta activated kinase 1); can activate the mitogen activated protein kinase pathway (PMID:12804775)
- Pellino2 interacts with kinase-active as well as kinase-inactive IRAK1 and IRAK4 (PMID:12860405)
- Pellino 2 plays a critical role for TLR/IL-1R-mediated post-transcriptional control. (PMID:22669975)
- A high-affinity Pellino2 e3 ubiquitin ligase binding domain is specific for phosphothreonine motifs. (PMID:25027698)
- K(+) regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages. (PMID:34387857)
- Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. (PMID:34674267)
- A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia. (PMID:36776133)
- PELI2 regulates early B-cell progenitor differentiation and related leukemia via the IL-7R expression. (PMID:38058209)
- PELI2 is a negative regulator of STING signaling that is dynamically repressed during viral infection. (PMID:38917796)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000003041 | |
| danio_rerio | peli2 | ENSDARG00000029045 |
| mus_musculus | Peli2 | ENSMUSG00000021846 |
| rattus_norvegicus | Peli2 | ENSRNOG00000012363 |
| drosophila_melanogaster | Pli | FBGN0025574 |
| caenorhabditis_elegans | WBGENE00017766 |
Paralogs (2): PELI3 (ENSG00000174516), PELI1 (ENSG00000197329)
Protein
Protein identifiers
E3 ubiquitin-protein ligase pellino homolog 2 — Q9HAT8 (reviewed: Q9HAT8)
Alternative names: RING-type E3 ubiquitin transferase pellino homolog 2
All UniProt accessions (4): Q9HAT8, A0A994J4T1, H0YK56, H0YNF4
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 IL1B-induced IRAK1 ‘Lys-63’-linked polyubiquitination and possibly ‘Lys-48’-linked ubiquitination. May be important for LPS- and IL1B-induced MAP3K7-dependent, but not MAP3K3-dependent, NF-kappa-B activation. Can activate the MAP (mitogen activated protein) kinase pathway leading to activation of ELK1.
Subunit / interactions. Interacts with TRAF6, IRAK1, IRAK4 and MAP3K7. Interacts with BCL10; this interaction is impaired by SOCS3.
Post-translational modifications. Phosphorylated by IRAK1 and IRAK4 enhancing its E3 ligase activity.
Domain organisation. The atypical FHA domain contains a ‘wing’ insert and mediates binding to threonine-phosphorylated IRAK1.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the pellino family.
RefSeq proteins (1): NP_067078* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006800 | Pellino_fam | Family |
| IPR048334 | Pellino_FHA | Domain |
| IPR048335 | Pellino_RING | Domain |
Pfam: PF04710, PF20723
UniProt features (28 total): strand 18, mutagenesis site 5, helix 3, chain 1, domain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3EGA | X-RAY DIFFRACTION | 1.8 |
| 3EGB | X-RAY DIFFRACTION | 3.25 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HAT8-F1 | 89.87 | 0.75 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 106 | abolishes binding to irak1. |
| 187 | abolishes binding to irak1; when associated with a-188. |
| 188 | abolishes binding to irak1; when associated with a-187. |
| 397 | loss of irak1-polyubiquitination. |
| 400 | loss of irak1-polyubiquitination. |
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: 261 (showing top):
FREAC2_01, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GCANCTGNY_MYOD_Q6, AAGCCAT_MIR135A_MIR135B, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, SRF_Q5_01, NKX62_Q2, SOX9_B1, FREAC3_01, DOANE_RESPONSE_TO_ANDROGEN_DN, GOBP_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS
GO Biological Process (6): protein polyubiquitination (GO:0000209), positive regulation of protein phosphorylation (GO:0001934), regulation of Toll signaling pathway (GO:0008592), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), positive regulation of MAPK cascade (GO:0043410), protein ubiquitination (GO:0016567)
GO Molecular Function (4): ubiquitin-ubiquitin ligase activity (GO:0034450), 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 |
|---|---|
| positive regulation of intracellular signal transduction | 2 |
| protein ubiquitination | 1 |
| regulation of protein phosphorylation | 1 |
| protein phosphorylation | 1 |
| positive regulation of protein modification process | 1 |
| positive regulation of phosphorylation | 1 |
| Toll signaling pathway | 1 |
| regulation of signal transduction | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| protein modification by small protein conjugation | 1 |
| ubiquitin protein ligase activity | 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
734 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PELI2 | IRAK1 | P51617 | 958 |
| PELI2 | IRAK4 | Q9NWZ3 | 844 |
| PELI2 | TRAF6 | Q9Y4K3 | 813 |
| PELI2 | IL1R1 | P14778 | 592 |
| PELI2 | MYD88 | P78397 | 586 |
| PELI2 | TOLLIP | Q9H0E2 | 583 |
| PELI2 | TLR4 | O00206 | 581 |
| PELI2 | TAB2 | Q9NYJ8 | 517 |
| PELI2 | SMAD6 | O43541 | 502 |
| PELI2 | TAB1 | Q15750 | 494 |
| PELI2 | MARCHF7 | Q9H992 | 492 |
| PELI2 | ECSIT | Q9BQ95 | 489 |
| PELI2 | UBE2N | P61088 | 487 |
| PELI2 | CASP8 | Q14790 | 486 |
| PELI2 | BCL2 | P10415 | 477 |
IntAct
70 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IRAK1 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PELI2 | IRAK1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PELI2 | IRAK4 | psi-mi:“MI:0915”(physical association) | 0.590 |
| IRAK4 | PELI2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.590 |
| PELI2 | PCGF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TP63 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX1 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PELI2 | SEPTIN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MDFI | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RABEP1 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM79 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REL | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLEC17A | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM32 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SP4 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PELI2 | LZTFL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OR7D2 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HYAL2 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PCGF2 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUP62 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RMDN3 | PELI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PELI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| PELI2 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| PELI2 | FN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HNRNPK | PELI2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PELI2 | LTBP3 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (80): IRAK1 (Affinity Capture-Western), UQCRFS1 (Affinity Capture-Western), TRAF6 (Affinity Capture-Western), PELI2 (Affinity Capture-RNA), PELI2 (Protein-peptide), PELI2 (Two-hybrid), PELI2 (Two-hybrid), PELI2 (Two-hybrid), PELI2 (Two-hybrid), PELI2 (Two-hybrid), PELI2 (Two-hybrid), PELI2 (Two-hybrid), PELI2 (Two-hybrid), PELI2 (Two-hybrid), REL (Two-hybrid)
ESM2 similar proteins: A0JN39, A4FUD6, B1H2N3, D2SW95, D2XV59, O00178, O08582, O35218, O60941, O77237, P11029, P11497, P23514, P29144, P42694, P53618, Q0J035, Q0JNK5, Q13085, Q28559, Q53PC7, Q58DC5, Q5R4J9, Q5R922, Q5RCC1, Q5SWU9, Q5T5C0, Q5XGS8, Q5ZIA5, Q5ZM73, Q6DFV5, Q6NYU2, Q80UM3, Q80YV4, Q8BHL5, Q8BST6, Q8BXR6, Q8C669, Q8IZH2, Q8L5Y9
Diamond homologs: O77237, Q8BST6, Q8BXR6, Q8C669, Q8N2H9, Q96FA3, Q9HAT8
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IRAK4 | up-regulates | PELI2 | phosphorylation |
| PELI2 | up-regulates | IRAK1 | ubiquitination |
| PELI2 | “up-regulates activity” | NLRP3 | ubiquitination |
| IRAK1 | “up-regulates activity” | PELI2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 31 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of canonical NF-kappaB signal transduction | 5 | 11.7× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
65 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 50 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2148 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:56118734:TCGGG:T | donor_loss | 1.0000 |
| 14:56118735:CGGG:C | donor_loss | 1.0000 |
| 14:56118736:GG:G | donor_gain | 1.0000 |
| 14:56118736:GGGT:G | donor_loss | 1.0000 |
| 14:56118737:GG:G | donor_gain | 1.0000 |
| 14:56178326:T:A | acceptor_gain | 1.0000 |
| 14:56178330:TCTA:T | acceptor_loss | 1.0000 |
| 14:56178331:CTAG:C | acceptor_loss | 1.0000 |
| 14:56178332:TA:T | acceptor_loss | 1.0000 |
| 14:56178333:A:AG | acceptor_gain | 1.0000 |
| 14:56178333:A:C | acceptor_loss | 1.0000 |
| 14:56178333:AG:A | acceptor_gain | 1.0000 |
| 14:56178334:G:GA | acceptor_gain | 1.0000 |
| 14:56178334:GG:G | acceptor_gain | 1.0000 |
| 14:56178334:GGT:G | acceptor_gain | 1.0000 |
| 14:56178334:GGTA:G | acceptor_gain | 1.0000 |
| 14:56178334:GGTAC:G | acceptor_gain | 1.0000 |
| 14:56178462:AAGG:A | donor_loss | 1.0000 |
| 14:56178464:GGTA:G | donor_loss | 1.0000 |
| 14:56178465:G:T | donor_loss | 1.0000 |
| 14:56279674:A:AG | acceptor_gain | 1.0000 |
| 14:56279675:G:GG | acceptor_gain | 1.0000 |
| 14:56279773:TTCAG:T | donor_loss | 1.0000 |
| 14:56279774:TCAG:T | donor_loss | 1.0000 |
| 14:56279775:CAGGT:C | donor_loss | 1.0000 |
| 14:56279776:AGG:A | donor_loss | 1.0000 |
| 14:56279777:GGTAA:G | donor_loss | 1.0000 |
| 14:56279778:G:GA | donor_loss | 1.0000 |
| 14:56279779:TAATA:T | donor_loss | 1.0000 |
| 14:56288434:TA:T | acceptor_loss | 1.0000 |
AlphaMissense
2764 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:56118718:G:T | G20W | 1.000 |
| 14:56118719:G:A | G20E | 1.000 |
| 14:56118725:T:C | L22P | 1.000 |
| 14:56118736:G:T | G26W | 1.000 |
| 14:56118737:G:A | G26E | 1.000 |
| 14:56178415:G:A | G53D | 1.000 |
| 14:56178418:T:A | V54D | 1.000 |
| 14:56279704:T:A | I79K | 1.000 |
| 14:56279704:T:G | I79R | 1.000 |
| 14:56279709:T:G | Y81D | 1.000 |
| 14:56279722:G:T | R85M | 1.000 |
| 14:56279745:T:C | Y93H | 1.000 |
| 14:56279745:T:G | Y93D | 1.000 |
| 14:56279777:G:C | Q103H | 1.000 |
| 14:56279777:G:T | Q103H | 1.000 |
| 14:56288440:G:A | G105S | 1.000 |
| 14:56288440:G:C | G105R | 1.000 |
| 14:56288440:G:T | G105C | 1.000 |
| 14:56288441:G:A | G105D | 1.000 |
| 14:56288441:G:T | G105V | 1.000 |
| 14:56288443:A:G | R106G | 1.000 |
| 14:56288444:G:C | R106T | 1.000 |
| 14:56288444:G:T | R106I | 1.000 |
| 14:56288445:A:C | R106S | 1.000 |
| 14:56288445:A:T | R106S | 1.000 |
| 14:56288446:T:C | S107P | 1.000 |
| 14:56288461:A:T | I112F | 1.000 |
| 14:56288465:A:T | D113V | 1.000 |
| 14:56288471:T:A | V115D | 1.000 |
| 14:56288474:T:A | V116D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000010466 (14:56192135 G>A), RS1000021348 (14:56152542 A>C,T), RS1000026695 (14:56172797 A>G), RS1000035918 (14:56120630 G>C), RS1000038117 (14:56146222 C>A), RS1000039336 (14:56230242 A>G), RS1000089947 (14:56145972 T>C), RS1000091348 (14:56153916 G>A), RS1000122369 (14:56145487 C>A), RS1000148141 (14:56269235 G>A), RS1000166845 (14:56150051 C>T), RS1000216663 (14:56169470 C>G,T), RS1000226510 (14:56232952 T>G), RS1000230540 (14:56198011 C>T), RS1000237817 (14:56232736 A>C,G)
Disease associations
OMIM: gene MIM:614798 | 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 |
|---|---|---|
| GCST001024_2 | Telomere length | 2.000000e-06 |
| GCST001737_32 | Chronic obstructive pulmonary disease-related biomarkers | 6.000000e-06 |
| GCST002573_2 | Height | 9.000000e-07 |
| GCST002928_20 | Nickel levels | 4.000000e-06 |
| GCST004581_2 | Body mass index (smoking years interaction) | 6.000000e-07 |
| GCST004586_1 | Body mass index (ever vs never smoking interaction) | 2.000000e-06 |
| GCST008395_9 | End-stage kidney disease | 9.000000e-07 |
| GCST009153_7 | Adverse response to chemotherapy (amenorrhea) in breast cancer | 9.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression, increases methylation | 4 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Cisplatin | decreases expression, increases expression | 2 |
| Nickel | decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| clothianidin | decreases expression | 1 |
| NSC668394 | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Glyphosate | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): amenorrhea