IL25
gene geneOn this page
Also known as IL-25IL-17E
Summary
IL25 (interleukin 25, HGNC:13765) is a protein-coding gene on chromosome 14q11.2, encoding Interleukin-25 (Q9H293). Cytokine produced by various cells such as eosinophils, T-helper type 2 (Th2) cells or epithelial cells that plays a role in internal safety of adaptive immune responses by regulating cytokine production.
The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 64806 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 33 total
- MANE Select transcript:
NM_172314
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13765 |
| Approved symbol | IL25 |
| Name | interleukin 25 |
| Location | 14q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IL-25, IL-17E |
| Ensembl gene | ENSG00000166090 |
| Ensembl biotype | protein_coding |
| OMIM | 605658 |
| Entrez | 64806 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000329715, ENST00000397242
RefSeq mRNA: 2 — MANE Select: NM_172314
NM_022789, NM_172314
CCDS: CCDS45086, CCDS9597
Canonical transcript exons
ENST00000397242 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001099681 | 23375625 | 23376403 |
| ENSE00001527885 | 23373176 | 23373396 |
| ENSE00001527887 | 23372809 | 23372975 |
Expression profiles
Bgee: expression breadth broad, 42 present calls, max score 85.63.
Top tissues by expression
205 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.63 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 63.19 | gold quality |
| myocardium | UBERON:0002349 | 60.51 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 59.90 | gold quality |
| biceps brachii | UBERON:0001507 | 59.88 | gold quality |
| oral cavity | UBERON:0000167 | 59.04 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 58.10 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 58.08 | gold quality |
| gingival epithelium | UBERON:0001949 | 57.99 | gold quality |
| heart right ventricle | UBERON:0002080 | 56.55 | gold quality |
| gingiva | UBERON:0001828 | 55.73 | gold quality |
| postcentral gyrus | UBERON:0002581 | 55.51 | gold quality |
| jejunal mucosa | UBERON:0000399 | 55.44 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 55.35 | gold quality |
| entorhinal cortex | UBERON:0002728 | 54.80 | gold quality |
| seminal vesicle | UBERON:0000998 | 53.88 | gold quality |
| sperm | CL:0000019 | 53.36 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 53.24 | gold quality |
| vastus lateralis | UBERON:0001379 | 53.19 | gold quality |
| right atrium auricular region | UBERON:0006631 | 53.01 | gold quality |
| quadriceps femoris | UBERON:0001377 | 52.90 | gold quality |
| tibia | UBERON:0000979 | 52.85 | gold quality |
| parietal lobe | UBERON:0001872 | 52.84 | gold quality |
| cardiac atrium | UBERON:0002081 | 52.68 | gold quality |
| parotid gland | UBERON:0001831 | 52.67 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 52.51 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 51.84 | gold quality |
| skin of hip | UBERON:0001554 | 50.72 | silver quality |
| colonic mucosa | UBERON:0000317 | 50.40 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 50.11 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.48 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
44 targeting IL25, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-1284 | 99.67 | 73.56 | 1353 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
Literature-anchored findings (GeneRIF, showing 40)
- Overexpression of IL-17E up-regulates gene expression of Th2 cytokines and induces growth retardation, jaundice, and multiorgan inflammation in a transgenic mouse model. (PMID:11714825)
- Transgenic overexpression from humans into mice results in eosinophilia, B-lymphocyte hyperplasia, and altered antibody production. (PMID:12239140)
- IL-17E may contribute to the induction and maintenance of eosinophilic inflammation by acting on lung fibroblasts. This supports a role for IL-17E in asthma pathophysiology. (PMID:16522458)
- IL-25 acts by amplifying TH2 cell-mediated allergic airway inflammation. IL-25 itself does not significantly induce allergic inflammation in vivo. (PMID:16950278)
- IL-25 produced by innate effector eosinophils and basophils may augment the allergic inflammation by enhancing the maintenance and functions of TSLP-DC activated adaptive Th2 memory cells (PMID:17635955)
- The upregulation of costimulation-induced IL-25 receptors and release of cytokines and chemokines from IL-25 treated costimulated Th cells were differentially regulated by intracellular JNK, p38 MAPK and NF-kappaB activity. (PMID:17719653)
- Blocking IL-25 in an experimental model of allergic asthma prevents airway hyperresponsiveness, a critical feature of clinical asthma. (PMID:17889290)
- Higher expressions of IL-17E, IL-17A, IL-17BR and IL-17R are associated with oral inflammation. (PMID:19095584)
- IL-25 is a negative regulator of monocyte proinflammatory cytokine responses (PMID:19129540)
- MMP7 coordinates allergic lung inflammation by activating interleukin 25 while simultaneously inhibiting retinoid-dependent development of regulatory T cells. (PMID:19329997)
- IL-17A and IL-25 had opposing effects on thymic stromal lymphopoietin regulation in human nasal epithelial cells (PMID:19968632)
- production is linked to the amount of specific IgE antibodies in blood samples of 6 yr old children in Germany (PMID:20492545)
- Eosinophils are the main source of IL-25, whereas activated CD4+ memory T cells are the IL-17RB-expressing cells in Churg-Strauss syndrome. (PMID:20729468)
- IL-25 may have a role in atopic dermatitis (PMID:20861853)
- IL-25 production is differently regulated by TNF-alpha and TGF-beta1 in the human g (PMID:20944558)
- Findings suggest that IL-25 is elevated in asthma and contributes to angiogenesis. (PMID:21205894)
- Allergen provocation induces functionally relevant, increased expression of IL-25 and its receptor in the asthmatic bronchial mucosa and dermis of sensitized atopic subjects. (PMID:21570719)
- We observed significant downregulation of IL-25 in women with recurrent miscarriage compared with controls. (PMID:22266274)
- IL-25 secreted from epithelial cells has the potential to promote airway remodeling in asthma. (PMID:22691357)
- IL-25 Is Decreased in Sera of Patients With inflammatory bowel disease. (PMID:23429464)
- IL-25 expression is markedly reduced during human and experimental fulminant hepatitis. (PMID:23564603)
- Suggest that IL-25 production by airway epithelial cells is regulated by the transcription and protein release levels and that allergen proteases likely play pivotal roles in both biological processes. (PMID:23590308)
- IL-25 enhances herpes simplex virus (HSV)-1 and vaccinia virus replication by inhibiting filaggrin expression, and IL-25 acts synergistically with IL-4 and IL-13 to enhance HSV-1 replication in vitro (PMID:23657503)
- Our data demonstrate that IL-33 plays a critical role in the rapid induction of airway contraction by stimulating the prompt expansion of IL-13-producing type 2 innate lymphoid cells, whereas IL-25-induced responses are slower and less potent. (PMID:23810766)
- Patients with the ‘IL-5, IL-17A, IL-25-high’ airway inflammatory pattern are often uncontrolled asthmatics, despite daily treatment. (PMID:23957336)
- The increased IL-25 levels in plasma and the expression of IL-17RA and IL-17RB on eosinophils in allergic asthma patients suggests that IL-25 may activate eosinophils during allergic inflammation. (PMID:24247484)
- IL-25 and IL-33-driven type-2 innate lymphoid cells have roles in atopic dermatitis (PMID:24323357)
- IL-25 and type 2 innate lymphoid cells have roles in development of pulmonary fibrosis (PMID:24344271)
- Human chorionic gonadotropin up-regulates Il25, promoting the proliferation of decidual stromal cells by activation of JNK and AKT signal pathways. (PMID:24746746)
- Because IL-25 has a major role in triggering type 2 responses, bronchial epithelial IL-25 expression is likely a key determinant of type 2 response activation in asthma (PMID:25133876)
- asthmatic epithelial cells have an increased intrinsic capacity for expression of a pro-type 2 cytokine in response to a viral infection, and IL-25 is a key mediator of RV-induced exacerbations of pulmonary inflammation (PMID:25273095)
- The levels of mRNA for IL-25 were not significantly elevated in parotid gland tissues from Kimura Disease patients as compared to controls. (PMID:25676453)
- increased levels in patients with chronic rhinosinusitis with nasal polyps (PMID:25704964)
- This article focuses on evidence for the role of IL-25, IL-33 and TSLP in human allergic disease; although this triad of cytokines is described as epithelial derived, it is clear that their expression within lung tissue is much more widespread.[Review] (PMID:25705788)
- we have demonstrated that the expression of ET-1 and IL-25 was coordinately upregulated in the lesional keratinocytes of patients with AD and a murine AD model. (PMID:25903653)
- IL-25 overexpression was observed in eosinophilic chronic rhinosinusitis and may serve as a mediator of eosinophilic CRS. (PMID:25975248)
- IL-25 upregulated PD-L1 surface expression through the signaling pathways of JNK and STAT3, with STAT3 found to constitutively occupy the proximal region of the PD-L1 promoter. (PMID:26321145)
- The IL17E rs79877597 SNP was a modifier of the risk for psoriasis disease severity and psoriatic arthritis. (PMID:26347322)
- expression of immunoreactivity for IL-17A, IL-17RA, IL-17E, and IL-17F was significantly elevated in prostatic tissue from benign prostatic hyperplasia and prostate cancer compared with that in controls (PMID:26356122)
- Increased induction and expression of TSLP, IL-25, and IL-33 from nasal epithelial cells contribute to the pathophysiology of eosinophilic chronic rhinosinusitis. (PMID:26540312)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Il25 | ENSMUSG00000040770 |
| rattus_norvegicus | Il25 | ENSRNOG00000016804 |
| caenorhabditis_elegans | WBGENE00009108 |
Paralogs (5): IL17A (ENSG00000112115), IL17F (ENSG00000112116), IL17C (ENSG00000124391), IL17B (ENSG00000127743), IL17D (ENSG00000172458)
Protein
Protein identifiers
Interleukin-25 — Q9H293 (reviewed: Q9H293)
Alternative names: Interleukin-17E
All UniProt accessions (1): Q9H293
UniProt curated annotations — full annotation on UniProt →
Function. Cytokine produced by various cells such as eosinophils, T-helper type 2 (Th2) cells or epithelial cells that plays a role in internal safety of adaptive immune responses by regulating cytokine production. Promotes and augments T-helper type 2 responses locally or systemically. Exerts its activity via its receptor composed of IL17RA and IL17RB for signal transduction. In turn, stimulates the JAK2-STAT5A pathway and promotes the secretion of type-2 associated cytokines including IL4, IL9 and IL13. Also induces the release of IL8, and IL6 from eosinophils through the combined activation of MAPK and NF-kappa-B pathways. Inhibits the differentiation of T-helper (Th17) cells via the production of IL4, IL5 and IL13.
Subcellular location. Secreted.
Tissue specificity. Expressed at low levels in several tissues, including brain, kidney, lung, prostate, testis, spinal cord, adrenal gland, and trachea.
Similarity. Belongs to the IL-17 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H293-1 | 1 | yes |
| Q9H293-2 | 2 |
RefSeq proteins (2): NP_073626, NP_758525* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010345 | IL-17_fam | Family |
| IPR029034 | Cystine-knot_cytokine | Homologous_superfamily |
Pfam: PF06083
UniProt features (16 total): strand 6, disulfide bond 2, signal peptide 1, chain 1, turn 1, region of interest 1, compositionally biased region 1, glycosylation site 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7UWJ | ELECTRON MICROSCOPY | 3.2 |
| 7UWL | ELECTRON MICROSCOPY | 3.7 |
| 7UWK | ELECTRON MICROSCOPY | 4.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H293-F1 | 79.15 | 0.50 |
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 (2): 110–168, 115–170
Glycosylation sites (1): 136
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-448424 | Interleukin-17 signaling |
MSigDB gene sets: 123 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_MYELOID_CELL_DIFFERENTIATION, FREAC2_01, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_KERATINOCYTE_PROLIFERATION, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, FOXO4_01, FOXO1_01, FOXD3_01, GOBP_REGULATION_OF_KERATINOCYTE_PROLIFERATION, HFH8_01, FOXJ2_01, OCT1_07
GO Biological Process (7): inflammatory response to antigenic stimulus (GO:0002437), response to fungus (GO:0009620), response to nematode (GO:0009624), eosinophil differentiation (GO:0030222), positive regulation of transcription by RNA polymerase II (GO:0045944), inflammatory response (GO:0006954), signal transduction (GO:0007165)
GO Molecular Function (3): cytokine activity (GO:0005125), interleukin-17E receptor binding (GO:0030380), signaling receptor binding (GO:0005102)
GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signaling by Interleukins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to other organism | 2 |
| inflammatory response | 1 |
| immune response | 1 |
| granulocyte differentiation | 1 |
| cell development | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| defense response | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| cytokine receptor binding | 1 |
| protein binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
596 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL25 | IL17RB | Q9NRM6 | 999 |
| IL25 | IL17RA | Q96F46 | 997 |
| IL25 | IL17B | Q9UHF5 | 991 |
| IL25 | IL17D | Q8TAD2 | 976 |
| IL25 | IL17F | Q96PD4 | 957 |
| IL25 | IL17RC | Q8NAC3 | 908 |
| IL25 | IL17A | Q16552 | 892 |
| IL25 | IL22 | Q9GZX6 | 866 |
| IL25 | IL33 | O95760 | 864 |
| IL25 | IL17RE | Q8NFR9 | 862 |
| IL25 | MYDGF | Q969H8 | 840 |
| IL25 | IL13 | P35225 | 800 |
| IL25 | IL5 | P05113 | 798 |
| IL25 | TSLP | Q969D9 | 791 |
| IL25 | IL17RD | Q8NFM7 | 780 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ESR1 | TRIM24 | psi-mi:“MI:0914”(association) | 0.640 |
| IL25 | PPM1B | psi-mi:“MI:0914”(association) | 0.530 |
| IL17RB | IL25 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| IL25 | IL17RB | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| IL17RA | IL25 | psi-mi:“MI:0915”(physical association) | 0.490 |
| IL25 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| IL25 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (43): IL25 (Affinity Capture-MS), IL25 (Positive Genetic), IL25 (Positive Genetic), UBR1 (Affinity Capture-MS), UGDH (Affinity Capture-MS), ITGA6 (Affinity Capture-MS), UBR2 (Affinity Capture-MS), HSPD1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), IL17RB (Reconstituted Complex), MANBA (Affinity Capture-MS), MLYCD (Affinity Capture-MS), NPTX1 (Affinity Capture-MS), PDP1 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS)
ESM2 similar proteins: A6NKQ9, B1AWI6, G7PWZ3, I6M4H4, O09108, O46482, O46483, O46641, O77805, O77835, P01229, P01230, P01231, P01232, P04651, P07434, P08751, P0DN86, P0DN87, P17490, P19794, P27767, P30984, P43021, P45646, P45657, P51500, Q04997, Q1L6U9, Q2Q1P0, Q2Q1P1, Q2Q1P2, Q3HRV3, Q3S2X5, Q6EV78, Q6HA10, Q6NT52, Q6PX77, Q7ZZV4, Q8CB67
Diamond homologs: A6N6I9, O40633, P24916, Q16552, Q5BJ95, Q60I29, Q61453, Q62386, Q687Y7, Q7TNI7, Q8K4C5, Q8TAD2, Q8VHH8, Q96PD4, Q9EQI6, Q9H293, Q9P0M4, Q9QXT6, Q9UHF5
SIGNOR signaling
0 interactions.
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 | 30 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
352 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:23373395:GA:G | donor_gain | 0.9900 |
| 14:23373397:G:GG | donor_gain | 0.9900 |
| 14:23372971:ACCAG:A | donor_loss | 0.9700 |
| 14:23372973:CAG:C | donor_loss | 0.9700 |
| 14:23372977:T:A | donor_loss | 0.9700 |
| 14:23375622:CAGGT:C | acceptor_loss | 0.9600 |
| 14:23375623:A:T | acceptor_loss | 0.9600 |
| 14:23375624:G:GT | acceptor_loss | 0.9600 |
| 14:23372928:G:GG | donor_gain | 0.9400 |
| 14:23375584:C:A | acceptor_gain | 0.9400 |
| 14:23375617:CCCCA:C | acceptor_loss | 0.9400 |
| 14:23375618:CCCAC:C | acceptor_loss | 0.9400 |
| 14:23375623:A:AG | acceptor_gain | 0.9400 |
| 14:23375623:AGGTT:A | acceptor_gain | 0.9400 |
| 14:23375624:G:GG | acceptor_gain | 0.9400 |
| 14:23375624:GGTTG:G | acceptor_gain | 0.9400 |
| 14:23372927:A:AG | donor_gain | 0.9300 |
| 14:23375624:GGTT:G | acceptor_gain | 0.9300 |
| 14:23375615:GCCCC:G | acceptor_loss | 0.9200 |
| 14:23375616:CCCCC:C | acceptor_loss | 0.9200 |
| 14:23373391:A:G | donor_gain | 0.9000 |
| 14:23373278:TG:T | donor_gain | 0.8900 |
| 14:23373279:GG:G | donor_gain | 0.8900 |
| 14:23372976:G:GG | donor_gain | 0.8800 |
| 14:23372930:C:A | donor_gain | 0.8700 |
| 14:23373392:TATGA:T | donor_gain | 0.8700 |
| 14:23373394:TGA:T | donor_gain | 0.8700 |
| 14:23373395:GAG:G | donor_gain | 0.8700 |
| 14:23373393:A:G | donor_gain | 0.8600 |
| 14:23373170:CTACA:C | acceptor_loss | 0.8500 |
AlphaMissense
1048 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:23373388:G:C | W90C | 0.998 |
| 14:23373388:G:T | W90C | 0.998 |
| 14:23373386:T:A | W90R | 0.996 |
| 14:23373386:T:C | W90R | 0.996 |
| 14:23375674:T:A | C110S | 0.995 |
| 14:23375675:G:C | C110S | 0.995 |
| 14:23375689:T:A | C115S | 0.995 |
| 14:23375690:G:C | C115S | 0.995 |
| 14:23373372:G:C | R85T | 0.994 |
| 14:23375690:G:A | C115Y | 0.994 |
| 14:23375854:T:C | C170R | 0.994 |
| 14:23375855:G:A | C170Y | 0.994 |
| 14:23375650:C:T | P102S | 0.993 |
| 14:23375691:C:G | C115W | 0.993 |
| 14:23375849:G:A | C168Y | 0.993 |
| 14:23373372:G:T | R85M | 0.992 |
| 14:23373373:G:C | R85S | 0.992 |
| 14:23373373:G:T | R85S | 0.992 |
| 14:23375674:T:C | C110R | 0.992 |
| 14:23375676:C:G | C110W | 0.992 |
| 14:23375848:T:C | C168R | 0.992 |
| 14:23375854:T:A | C170S | 0.992 |
| 14:23375855:G:C | C170S | 0.992 |
| 14:23375645:G:C | R100P | 0.991 |
| 14:23375762:T:A | V139D | 0.991 |
| 14:23375850:T:G | C168W | 0.991 |
| 14:23375689:T:C | C115R | 0.990 |
| 14:23375690:G:T | C115F | 0.990 |
| 14:23375856:T:G | C170W | 0.990 |
| 14:23375669:C:A | A108D | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000418258 (14:23373723 T>G), RS1000751111 (14:23372047 G>A), RS1000892857 (14:23371821 C>T), RS1001547261 (14:23374989 G>A,T), RS1002294130 (14:23373474 G>A), RS1003792758 (14:23376406 C>T), RS1004452809 (14:23372550 C>A,G), RS1005358417 (14:23374632 G>T), RS1005798206 (14:23376672 C>G,T), RS1005803409 (14:23372063 C>G,T), RS1005856335 (14:23371762 A>G), RS1007018211 (14:23371357 C>T), RS1008244798 (14:23372485 C>G,T), RS1008339522 (14:23372114 G>A), RS1008364240 (14:23372385 T>C)
Disease associations
OMIM: gene MIM:605658 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Triclosan | increases expression, decreases expression, decreases reaction | 2 |
| Particulate Matter | decreases reaction, increases secretion, decreases expression | 2 |
| chicanine | decreases reaction, increases expression | 1 |
| chelex | decreases reaction, increases secretion | 1 |
| titanium dioxide | affects expression | 1 |
| 1-hexadecyl-2-acetyl-glycero-3-phosphocholine | decreases reaction, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Deferoxamine | decreases reaction, increases secretion | 1 |
| Lipopolysaccharides | decreases reaction, increases expression | 1 |
| Dihydrotestosterone | decreases reaction, increases 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.