PI3
gene geneOn this page
Also known as ESISKALPELAFINWAP3WFDC14cementoin
Summary
PI3 (peptidase inhibitor 3, HGNC:8947) is a protein-coding gene on chromosome 20q13.12, encoding Elafin (P19957). Neutrophil and pancreatic elastase-specific inhibitor of skin.
This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines.
Source: NCBI Gene 5266 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 14 total
- MANE Select transcript:
NM_002638
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8947 |
| Approved symbol | PI3 |
| Name | peptidase inhibitor 3 |
| Location | 20q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin |
| Ensembl gene | ENSG00000124102 |
| Ensembl biotype | protein_coding |
| OMIM | 182257 |
| Entrez | 5266 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000243924, ENST00000971330
RefSeq mRNA: 1 — MANE Select: NM_002638
NM_002638
CCDS: CCDS13344
Canonical transcript exons
ENST00000243924 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000844914 | 45174902 | 45175001 |
| ENSE00000844915 | 45175861 | 45176136 |
| ENSE00001041476 | 45176370 | 45176544 |
Expression profiles
Bgee: expression breadth ubiquitous, 193 present calls, max score 99.88.
FANTOM5 (CAGE): breadth broad, TPM avg 25.7605 / max 4179.4159, expressed in 467 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 184776 | 25.7605 | 467 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.88 | gold quality |
| penis | UBERON:0000989 | 99.63 | gold quality |
| mammalian vulva | UBERON:0000997 | 99.50 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 99.14 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.04 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.54 | gold quality |
| gingiva | UBERON:0001828 | 98.50 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.31 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.17 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 98.10 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.75 | gold quality |
| squamous epithelium | UBERON:0006914 | 96.81 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.69 | gold quality |
| mouth mucosa | UBERON:0003729 | 96.62 | gold quality |
| oral cavity | UBERON:0000167 | 96.35 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.27 | gold quality |
| cervix epithelium | UBERON:0004801 | 95.23 | gold quality |
| body of tongue | UBERON:0011876 | 95.22 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 95.14 | gold quality |
| blood | UBERON:0000178 | 93.44 | gold quality |
| rectum | UBERON:0001052 | 93.15 | gold quality |
| buccal mucosa cell | CL:0002336 | 93.07 | gold quality |
| vermiform appendix | UBERON:0001154 | 92.96 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.50 | gold quality |
| periodontal ligament | UBERON:0008266 | 91.67 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 91.47 | silver quality |
| islet of Langerhans | UBERON:0000006 | 90.57 | gold quality |
| tongue | UBERON:0001723 | 89.98 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 89.88 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 89.15 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 21.37 |
| E-CURD-114 | yes | 18.23 |
| E-MTAB-10596 | no | 3950.61 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, CEBPB, CEBPD, CEBPG, CUX1, DDIT3, ELF1, ESR1, FOXA2, GLI2, HIF1A, IRF3, IRF6, JUN, LHX2, MYC, NFE2L2, NKX2-2, PAX6, SP1, SPI1, STAT5A, TFAP2A, TP53, TXK
miRNA regulators (miRDB)
18 targeting PI3, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-3691-5P | 98.62 | 65.88 | 552 |
| HSA-MIR-4793-5P | 96.88 | 65.90 | 872 |
| HSA-MIR-4680-5P | 96.43 | 67.15 | 893 |
Literature-anchored findings (GeneRIF, showing 40)
- Genetically augmented elafin has the capacity to protect the lung in vivo and in vitro against the injurious effects of antibiotic-resistant bacterial pathogens and whole activated neutrophils. (PMID:11466403)
- Synthesized locally at mucosal sites. Efficiently inhibit target enzymes released into interstitium. Might be important in controlling excessive neutrophil elastase release in chronic obstructive pulmonary disease and cystic fibrosis. (review) (PMID:11667971)
- regulation of the elafin gene is dependent on chromatin structure in keratinocytes (PMID:12542536)
- results indicate that elafin may have a dual function, promoting up-regulation of local lung innate immunity while simultaneously down-regulating potentially unwanted systemic inflammatory responses in the circulation (PMID:12819058)
- elafin regulates proteolytic enzymes during menstruation and contributes to the innate defense against uterine infection (PMID:12970320)
- Serine elastase inhibition (elafin overexpression) appears to suppress inflammation, cardiac dilatation, and dysfunction after myocardial infarct. (PMID:14693682)
- Gene augmentation of human elafin suggests a novel and extended anti-inflammatory role for this human neutrophil elastase inhibitor working as an effector of innate immunity to protect tissues against maladaptive inflammatory responses. (PMID:15034071)
- The differential biological activity of elafin in different conditions suggests a role for this molecule in either LPS detoxification or activation of innate immune responses, depending on the external cellular environment. (PMID:15668324)
- Oxidized elafin poorly inhibits the elastolytic activity of leukocyte elastase and proteinase 3. (PMID:16279952)
- transglutaminase 2-mediated cross-linking of serine protease inhibitors elafin and trappin-2 to neutrophil serine proteinases preserves their inhibitory capacities (PMID:16300411)
- The pleiotropic molecule elafin has significant potential in modulating antigen-presenting cell numbers and activity, and could be beneficial in mucosal protective strategies. (PMID:16424380)
- The promoter sequences of PI3 have a high degree of variability. (PMID:16719916)
- beneficial effects of pre-elafin could be mediated, at least in part, by its ability to increase G-CSF levels in the lung (PMID:16913840)
- Elafin inhibits the lipopolysaccharide-induced production of monocyte chemoattractant protein-1 in monocytes by inhibiting AP-1 and NF-kappaB activation. (PMID:16980310)
- The transglutaminase substrate moiety of elafin plays an important role in anchoring elafin at its proper sites of action during UV-induced aging processes. (PMID:17139263)
- Levels of mRNA and immunostaining of the antiproteases elafin and SLPI were enhanced strongly in inflamed versus noninflamed UC. Elafin and SLPI may be added to the list of defensin-like peptides with diminished induction in CD versus UC. (PMID:17200145)
- full antipeptidase activity of pre-elafin is essential to protect against lung tissue lesions (PMID:17489739)
- This review focuses on recent findings revealing that elafin has many biological functions as diverse as anti-bacterial, anti-fungal, anti-viral, anti-inflammatory and immuno-modulatory functions. (PMID:17964057)
- We report here that pre-elafin inhibits a secreted peptidase to prevent Pseudomonas aeruginosa growth in vitro. (PMID:18025118)
- High levels of PI3 is associated with glioblastoma (PMID:18092325)
- Results of a genome-wide expression analysis in blood identify pre-elafin as a biomarker in acute respiratory distress syndrome. (PMID:18203972)
- The five gene transcripts (aldolase B, elafin, MST-1, simNIPhom and SLC6A14) were changed in patients with ulcerative colitis, and were related to the disease activity. (PMID:18700007)
- elafin is cleaved by its cognate enzyme NE present at excessive concentration in CF sputum, an effect which is promoted by P. aeruginosa infection (PMID:18799464)
- The results suggest that decreased expression of elastin and LOX and increased expression of elafin in the cardinal ligaments may contribute to pelvic organ prolapse. (PMID:19087518)
- SLPI and elafin have a role in the innate immune defence of the Fallopian tube in infection and ectopic pregnancy (PMID:19095674)
- The hypothesis that an imbalance between neutrophil elastase (HNE) and its inhibitors in blood is related to the development of ARDS, was tested. (PMID:19197381)
- polymorphisms in PI3 gene are significantly associated with ARDS risk and with circulating PI3 levels (PMID:19251943)
- Overexpression of elafin in epithelial cells attenuated the damage of Pseudomonas aeruginosa biofilm. (PMID:19420899)
- Elafin is a component of cervicovaginal secretions in pregnancy, and levels are diminished in bacterial vaginosis. (PMID:19723838)
- These results suggest that elafin can maintain airway epithelium integrity by protecting airway epithelial cells and enhancing the anti-inflammatory capability of airway. (PMID:19823954)
- increased production at the secretory phase of the menstrual cycle relative to the proliferative phase (PMID:19824918)
- Elafin has important roles in normal homoeostasis and at sites of inflammation. These roles include antiprotease and antimicrobial activity. (PMID:19906197)
- The synthesis of elafin is a novel effector function of gammadelta T cells which might be important for local immune defence (PMID:19906197)
- Elafin may serve as a determinant of poor survival in serous ovarian carcinomas (PMID:20126474)
- Elafin has a role in graft-versus-host disease of the skin (PMID:20371463)
- ability to modulate the expression of some P.aeruginosa virulence factors (PMID:20932308)
- The endometrium of women with hydrosalpinx has an increased number of neutrophils and lower expression of elafin, an elastase inhibitor and natural antimicrobial molecule. (PMID:21392745)
- these results collectively suggest that, in melanoma cells, Foxa2 expression is silenced and therefore elafin is maintained unexpressed to facilitate cell proliferation in the disease melanoma. (PMID:21466784)
- Studies indicate that Trappin-2/Elafin possessing anti-microbial properties against different classes of pathogens including viruses, fungi and bacteria. (PMID:22634606)
- The N-terminus of elafin is critical for intranuclear localization and anti-HIV-1 activity. (PMID:23300756)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| drosophila_melanogaster | CG5639 | FBGN0039527 |
| caenorhabditis_elegans | WBGENE00015620 |
Paralogs (9): SLPI (ENSG00000124107), WFDC3 (ENSG00000124116), WFDC13 (ENSG00000168634), WFDC12 (ENSG00000168703), WFDC5 (ENSG00000175121), WFDC11 (ENSG00000180083), WFDC9 (ENSG00000180205), WFDC10A (ENSG00000180305), WFDC10B (ENSG00000182931)
Protein
Protein identifiers
Elafin — P19957 (reviewed: P19957)
Alternative names: Elastase-specific inhibitor, Peptidase inhibitor 3, Protease inhibitor WAP3, Skin-derived antileukoproteinase, WAP four-disulfide core domain protein 14
All UniProt accessions (1): P19957
UniProt curated annotations — full annotation on UniProt →
Function. Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis. Has been shown to inhibit the alpha-4-beta-2/CHRNA2-CHRNB2 nicotinic acetylcholine receptor and to produce a weak inhibition on Kv11.1/KCNH2/ERG1 and on the transient receptor potential cation channel subfamily V member 1 (TRPV1).
Subcellular location. Secreted.
Domain organisation. Consists of two domains: the transglutaminase substrate domain (cementoin moiety) and the elastase inhibitor domain. The transglutaminase substrate domain serves as an anchor to localize elafin covalently to specific sites on extracellular matrix proteins.
RefSeq proteins (1): NP_002629* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002098 | SVP_I | Repeat |
| IPR008197 | WAP_dom | Domain |
| IPR019541 | Trappin_transglut-bd_rpt | Repeat |
| IPR036645 | Elafin-like_sf | Homologous_superfamily |
| IPR050514 | WAP_four-disulfide_core | Family |
Pfam: PF00095, PF10511
UniProt features (21 total): strand 6, disulfide bond 4, sequence variant 2, repeat 2, signal peptide 1, propeptide 1, sequence conflict 1, helix 1, chain 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1FLE | X-RAY DIFFRACTION | 1.9 |
| 6ATU | X-RAY DIFFRACTION | 2.4 |
| 2REL | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P19957-F1 | 72.19 | 0.39 |
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): 98–113, 76–105, 83–109, 92–104
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6803157 | Antimicrobial peptides |
| R-HSA-6809371 | Formation of the cornified envelope |
MSigDB gene sets: 149 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_BEHAVIOR, MCLACHLAN_DENTAL_CARIES_UP, JAEGER_METASTASIS_DN, MODULE_45, ONDER_CDH1_TARGETS_3_DN, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, MODULE_379, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN
GO Biological Process (5): copulation (GO:0007620), antibacterial humoral response (GO:0019731), innate immune response (GO:0045087), cornification (GO:0070268), peptide cross-linking (GO:0018149)
GO Molecular Function (4): endopeptidase inhibitor activity (GO:0004866), serine-type endopeptidase inhibitor activity (GO:0004867), structural constituent of skin epidermis (GO:0030280), peptidase inhibitor activity (GO:0030414)
GO Cellular Component (5): cornified envelope (GO:0001533), extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytosol (GO:0005829), extracellular matrix (GO:0031012)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Keratinization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| mating behavior | 1 |
| antimicrobial humoral response | 1 |
| defense response to bacterium | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| programmed cell death | 1 |
| keratinization | 1 |
| cornified envelope assembly | 1 |
| protein modification process | 1 |
| endopeptidase activity | 1 |
| peptidase inhibitor activity | 1 |
| endopeptidase regulator activity | 1 |
| serine-type endopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| structural molecule activity | 1 |
| enzyme inhibitor activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| plasma membrane | 1 |
| cytoplasm | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
1846 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PI3 | AKT1 | P31749 | 991 |
| PI3 | SERPINA4 | P29622 | 864 |
| PI3 | WFDC12 | Q8WWY7 | 828 |
| PI3 | PIK3CD | O00329 | 752 |
| PI3 | SEMG2 | Q02383 | 735 |
| PI3 | SEMG1 | P04279 | 728 |
| PI3 | LORICRIN | P23490 | 707 |
| PI3 | IVL | P07476 | 669 |
| PI3 | TNF | P01375 | 659 |
| PI3 | WIPI1 | Q5MNZ9 | 651 |
| PI3 | ELN | P15502 | 632 |
| PI3 | ELANE | P08246 | 623 |
| PI3 | NFKB1 | P19838 | 618 |
| PI3 | ERBB2 | P04626 | 608 |
| PI3 | ATM | Q13315 | 598 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CELA1 | PI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| PPP2R2B | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| PINK1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (7): PI3 (Reconstituted Complex), KRT1 (Reconstituted Complex), LOR (Reconstituted Complex), PI3 (Affinity Capture-MS), PI3 (Affinity Capture-MS), PI3 (Affinity Capture-MS), PI3 (Affinity Capture-MS)
ESM2 similar proteins: A4H238, A4H241, B4DH59, O14763, O14798, O46598, O88799, P0C6Y7, P19467, P19957, P28908, P38565, P97881, Q02496, Q13342, Q14242, Q28983, Q2EG98, Q30KK3, Q4ZJY8, Q4ZJZ1, Q4ZJZ3, Q5FVR0, Q5QGU6, Q5W9T8, Q60401, Q62010, Q62170, Q6AXX0, Q6AXY3, Q6H9L7, Q6P752, Q8BP27, Q8BVC1, Q8N687, Q95152, Q96D42, Q96EQ9, Q9BXX2, Q9BXX3
Diamond homologs: A4K2M5, A4K2M6, A4K2N9, A4K2P0, A4K2P7, A4K2P8, A4K2R4, A4K2R5, A4K2S3, A4K2S4, A4K2T2, A4K2T3, A4K2U0, A4K2U1, A4K2V3, A4K2V4, A4K2W7, A4K2W8, A4K2X5, A4K2X6, A4K2Y3, A4K2Y4, O46655, P03973, P09837, P19957, Q6IE40, Q8TCV5, Q8WWY7, A4K2Q7, A7X4M7, P01173, P16225, P23352, P33005, Q29125, Q29126, Q90369, Q9JHY3, A7X4M1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
14 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
257 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:45174997:GGGAG:G | donor_gain | 1.0000 |
| 20:45174998:GGAGG:G | donor_gain | 1.0000 |
| 20:45175000:AG:A | donor_loss | 1.0000 |
| 20:45175002:GTGA:G | donor_loss | 1.0000 |
| 20:45175003:T:G | donor_loss | 1.0000 |
| 20:45175859:A:AG | acceptor_gain | 1.0000 |
| 20:45175860:G:GG | acceptor_gain | 1.0000 |
| 20:45174998:GGAG:G | donor_gain | 0.9900 |
| 20:45174999:GAG:G | donor_gain | 0.9900 |
| 20:45174999:GAGG:G | donor_gain | 0.9900 |
| 20:45175002:G:GG | donor_gain | 0.9900 |
| 20:45175860:GTTC:G | acceptor_gain | 0.9900 |
| 20:45176185:GC:G | donor_gain | 0.9900 |
| 20:45175004:G:GG | donor_loss | 0.9800 |
| 20:45175857:ACAG:A | acceptor_loss | 0.9800 |
| 20:45175858:CA:C | acceptor_loss | 0.9800 |
| 20:45175859:A:AC | acceptor_loss | 0.9800 |
| 20:45175860:GTT:G | acceptor_gain | 0.9800 |
| 20:45175860:GTTCC:G | acceptor_gain | 0.9800 |
| 20:45175946:TC:T | donor_gain | 0.9800 |
| 20:45176132:GTGAG:G | donor_gain | 0.9800 |
| 20:45176198:G:GT | donor_gain | 0.9800 |
| 20:45176133:TGAG:T | donor_loss | 0.9700 |
| 20:45176134:GAGGT:G | donor_loss | 0.9700 |
| 20:45176136:GGTG:G | donor_loss | 0.9700 |
| 20:45176137:GTGA:G | donor_loss | 0.9700 |
| 20:45176138:T:TC | donor_loss | 0.9700 |
| 20:45176139:GA:G | donor_loss | 0.9700 |
| 20:45176198:G:T | donor_gain | 0.9700 |
| 20:45176368:AGAG:A | acceptor_gain | 0.9700 |
AlphaMissense
756 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:45176055:T:A | C92S | 0.994 |
| 20:45176056:G:C | C92S | 0.994 |
| 20:45176073:T:A | C98S | 0.993 |
| 20:45176074:G:C | C98S | 0.993 |
| 20:45176028:T:A | C83S | 0.990 |
| 20:45176029:G:C | C83S | 0.990 |
| 20:45176064:G:C | D95H | 0.990 |
| 20:45176091:T:A | C104S | 0.989 |
| 20:45176092:G:C | C104S | 0.989 |
| 20:45176007:T:A | C76S | 0.986 |
| 20:45176008:G:C | C76S | 0.986 |
| 20:45176075:C:G | C98W | 0.986 |
| 20:45176109:G:T | G110W | 0.985 |
| 20:45176065:A:T | D95V | 0.984 |
| 20:45176073:T:C | C98R | 0.982 |
| 20:45176106:T:A | C109S | 0.982 |
| 20:45176107:G:C | C109S | 0.982 |
| 20:45176028:T:C | C83R | 0.981 |
| 20:45176055:T:C | C92R | 0.981 |
| 20:45176057:C:G | C92W | 0.981 |
| 20:45176094:T:A | C105S | 0.981 |
| 20:45176095:G:C | C105S | 0.981 |
| 20:45176110:G:T | G110V | 0.981 |
| 20:45176118:T:A | C113S | 0.980 |
| 20:45176119:G:C | C113S | 0.980 |
| 20:45176030:C:G | C83W | 0.979 |
| 20:45176120:T:G | C113W | 0.979 |
| 20:45176065:A:C | D95A | 0.978 |
| 20:45176074:G:A | C98Y | 0.978 |
| 20:45176093:C:G | C104W | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000422977 (20:45172932 G>A), RS1000706722 (20:45173660 C>A,G), RS1000843291 (20:45176889 G>A,T), RS1000880259 (20:45173304 T>C), RS1001241371 (20:45175167 GGTGGACTCCAC>G), RS1001348531 (20:45173884 AC>A), RS1002219128 (20:45173108 G>T), RS1002524763 (20:45174220 A>G), RS1002888264 (20:45174828 G>A), RS1003219774 (20:45173445 C>T), RS1003784518 (20:45175466 G>A), RS1004096226 (20:45175762 G>T), RS1005386647 (20:45173872 C>A,T), RS1005683725 (20:45174067 C>T), RS1006834293 (20:45174668 A>T)
Disease associations
OMIM: gene MIM:182257 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_2620 | Blood protein levels | 5.000000e-32 |
| GCST008103_143 | Bipolar disorder | 3.000000e-06 |
| GCST008103_27 | Bipolar disorder | 3.000000e-08 |
| GCST010725_40 | Malaria | 1.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 4 |
| Estradiol | affects expression, affects cotreatment, increases expression, decreases expression | 3 |
| Cadmium Chloride | increases expression, increases abundance | 3 |
| Troglitazone | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | increases methylation, affects methylation, decreases expression | 2 |
| Lipopolysaccharides | decreases reaction, affects response to substance, affects cotreatment, increases expression | 2 |
| Nickel | increases expression | 2 |
| Sodium Dodecyl Sulfate | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression | 2 |
| Asbestos, Crocidolite | increases expression | 2 |
| Particulate Matter | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| lead acetate | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| 3,4-dichloroaniline | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tobacco tar | increases expression | 1 |
| cupric chloride | increases expression | 1 |
| hydroquinone | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, affects response to substance, increases expression | 1 |
| pentanal | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Rosuvastatin Calcium | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1JZ | HyCyte HaCaT KO-hPI3 | Spontaneously immortalized cell line | Male |
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.