IL26
geneOn this page
Also known as AK155IL-26
Summary
IL26 (interleukin 26, HGNC:17119) is a protein-coding gene on chromosome 12q15, encoding Interleukin-26 (Q9NPH9). May play a role in local mechanisms of mucosal immunity and seems to have a pro-inflammatory function.
This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri.
Source: NCBI Gene 55801 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 32 total
- MANE Select transcript:
NM_018402
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17119 |
| Approved symbol | IL26 |
| Name | interleukin 26 |
| Location | 12q15 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AK155, IL-26 |
| Ensembl gene | ENSG00000111536 |
| Ensembl biotype | protein_coding |
| OMIM | 605679 |
| Entrez | 55801 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000229134
RefSeq mRNA: 1 — MANE Select: NM_018402
NM_018402
CCDS: CCDS8981
Canonical transcript exons
ENST00000229134 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000751695 | 68225586 | 68225810 |
| ENSE00000751696 | 68225444 | 68225500 |
| ENSE00000751697 | 68225149 | 68225283 |
| ENSE00000751698 | 68202018 | 68202083 |
| ENSE00000751699 | 68201349 | 68201931 |
Expression profiles
Bgee: expression breadth broad, 44 present calls, max score 56.74.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2045 / max 55.8177, expressed in 41 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131964 | 0.1055 | 25 |
| 131965 | 0.0553 | 19 |
| 131963 | 0.0341 | 12 |
| 131962 | 0.0057 | 2 |
| 131961 | 0.0040 | 2 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| vermiform appendix | UBERON:0001154 | 56.74 | gold quality |
| decidua | UBERON:0002450 | 56.55 | gold quality |
| lower lobe of lung | UBERON:0008949 | 55.91 | silver quality |
| caecum | UBERON:0001153 | 54.36 | gold quality |
| hair follicle | UBERON:0002073 | 52.93 | gold quality |
| amniotic fluid | UBERON:0000173 | 52.15 | silver quality |
| bone marrow cell | CL:0002092 | 51.40 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 51.31 | gold quality |
| granulocyte | CL:0000094 | 51.29 | silver quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.30 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 48.89 | gold quality |
| myocardium | UBERON:0002349 | 48.87 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 48.55 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 48.50 | gold quality |
| quadriceps femoris | UBERON:0001377 | 48.47 | gold quality |
| oviduct epithelium | UBERON:0004804 | 48.46 | gold quality |
| vastus lateralis | UBERON:0001379 | 48.25 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 48.24 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 48.20 | gold quality |
| upper arm skin | UBERON:0004263 | 48.06 | gold quality |
| cervix epithelium | UBERON:0004801 | 48.04 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 47.92 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 47.80 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 47.70 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 47.50 | gold quality |
| thymus | UBERON:0002370 | 47.42 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.76 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting IL26, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-12129 | 99.72 | 67.45 | 1311 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-549A-3P | 99.54 | 68.17 | 825 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-2116-5P | 99.32 | 69.34 | 1273 |
| HSA-MIR-1257 | 98.97 | 68.02 | 1133 |
| HSA-MIR-16-1-3P | 98.70 | 69.23 | 1538 |
| HSA-MIR-1-5P | 98.70 | 68.66 | 1017 |
| HSA-MIR-3945 | 98.68 | 64.21 | 553 |
| HSA-MIR-1248 | 98.47 | 67.54 | 1314 |
| HSA-MIR-3187-5P | 98.36 | 65.74 | 1776 |
| HSA-MIR-1285-3P | 97.72 | 67.02 | 1932 |
| HSA-MIR-5189-5P | 97.72 | 66.96 | 1814 |
| HSA-MIR-4797-3P | 97.48 | 67.14 | 989 |
| HSA-MIR-5187-3P | 97.28 | 67.10 | 1037 |
| HSA-MIR-612 | 97.26 | 65.95 | 1597 |
| HSA-MIR-6860 | 97.21 | 66.31 | 1656 |
| HSA-MIR-3184-3P | 96.96 | 66.91 | 845 |
| HSA-MIR-151A-3P | 95.52 | 65.29 | 516 |
Literature-anchored findings (GeneRIF, showing 36)
- common polymorphisms in the IFNgamma/IL-26 gene region may contribute to sex bias in susceptibility to rheumatoid arthritis, by distorting the propensity of female carriers versus male carriers to contract this disease. (PMID:14558082)
- The active receptor complex for IL-26 is a heterodimer composed of two receptor proteins: IL-20 receptor 1 and IL-10 receptor 2. Signaling through the IL-26 receptor results in activation of STAT1 and STAT3. (PMID:14764663)
- sensitivity to recombinant interleukin-26(IL-26) of various cell lines strictly correlated with the expression of IL-20 receptor 1 and blocking antibodies against either IL-10 receptor 2 or IL-20 receptor 1 inhibited IL-26-dependent signal transduction (PMID:15178681)
- Identify a second enhancer element positioned between IL26 and IFNG required for both IL26 and IFNG expression. One function of this enhancer is to facilitate recruitment of RNA polymerase II to promoters of both genes. (PMID:22622197)
- IL-26 appears as a novel proinflammatory cytokine, located upstream of the proinflammatory cascade, that may constitute a promising target to treat rheumatoid arthritis and chronic inflammatory disorders. (PMID:23055831)
- IL-26 differentially modulates the infection by different enveloped viruses. (PMID:23875025)
- The negative influence of IL-26 on the anti-mycobacterial activity and its constitutive presence in both serum and monocyte supernatants prompt a proposal that IL26 as a candidate gene for tuberculosis susceptibility. (PMID:25157980)
- IL-26 is emerging as a potentially important player in host defense and may also be a pathogenic factor in the chronic inflammatory disorders of humans. [Review] (PMID:26202572)
- this study shows that single nucleotide polymorphism near IL-26 gene is associated with familial vitiligo and existence of halo nevi in Estonian patients (PMID:26429320)
- Our study indicates that IL-26 is a potential biomarker of disease severity in pediatric asthma without signs of Th2-mediated inflammation. (PMID:27029915)
- this study shows that IL-26 is a unique cationic protein more similar to a soluble pattern recognition receptor than to conventional cytokines (PMID:28356384)
- IL-26 levels are higher in synovial fluid compared to plasma in spondyloarthritis. IL-26 was identified in axial facet joints of spondyloarthritis patients. Myofibroblasts from the spondyloarthritis synovium produce large amounts of IL-26. IL-26 induces bone mineralization in human osteoblasts. (PMID:28365787)
- this paper shows that IL-26 is overexpressed in Behcet’s disease and enhances Th17 related -cytokines (PMID:28811236)
- IL-26 activates STAT1/3 and leads to the induction of IL-6 and IL-8 expression in non-transformed cells derived from human colon. (PMID:28852311)
- The varIL26 genotype is associated with reduced PMN capacity to kill bacteria. A varIL26 genotype is associated with decreased levels of anti-TNF-alpha in CD patients. IL26 may help explain the role of bactDNA as a risk factor of flare in CD patients. (PMID:28879509)
- non-specific T-cell killing represents an efficient amplification mechanism of the initially Ag-specific allergic reaction. Our findings suggest that IL-26 could play a crucial role in this amplification mechanism being an allergen independent cytokine highly expressed in ACD patients and constitutively ready to act in complex killing system proper of this disease. (PMID:29498775)
- increased in airways by long-term but not by short-term tobacco smoking (PMID:29780024)
- IL-26 acted directly on vascular endothelial cells, promoting proliferation and tube formation, possibly through protein kinase B, extracellular signal-regulated kinase, and NF-kappaB pathways (PMID:30423328)
- A new T helper 17 cytokine in hidradenitis suppurativa: antimicrobial and proinflammatory role of interleukin-26. (PMID:30829398)
- IL-26 promotes IL-22 secretion and Th22 generation by CD4(+) T cells isolated from tuberculous pleural effusion patients. IL-26 may play an active role in the pathogenesis of tuberculous pleurisy. (PMID:30834948)
- the Th17 cytokine IL-26 contributes to host defense against intracellular bacteria (PMID:30939123)
- IL-26 is an independent prognostic factor indicating unfavorable prognosis in hepatocellular carcinoma patients with liver resection. (PMID:30956053)
- Increased IL-26 Expression Promotes T Helper Type 17- and T Helper Type 2-Associated Cytokine Production by Keratinocytes in Atopic Dermatitis. (PMID:31465744)
- An observational study suggests IL-26 as a novel potential indicator for inflammation in chronic HBV infection and provides some new information about the mechanism underlying the serum IL-26 elevation in chronic hepatitis B patients. (PMID:31895778)
- Interleukin 26 Skews Macrophage Polarization Towards M1 Phenotype by Activating cJUN and the NF-kappaB Pathway. (PMID:32290250)
- IL26, a Noncanonical Mediator of DNA Inflammatory Stimulation, Promotes TNBC Engraftment and Progression in Association with Neutrophils. (PMID:32366475)
- IL-26 gene variants and protein expression in Tunisian asthmatic patients. (PMID:32683104)
- Interleukin-26 activates macrophages and facilitates killing of Mycobacterium tuberculosis. (PMID:33057074)
- Serum Interleukin-26 Is a New Biomarker for Disease Activity Assessment in Systemic Lupus Erythematosus. (PMID:34054830)
- Interleukin-26 Has Synergistic Catabolic Effects with Palmitate in Human Articular Chondrocytes via the TLR4-ERK1/2-c-Jun Signaling Pathway. (PMID:34572149)
- Complex Involvement of Interleukin-26 in Bacterial Lung Infection. (PMID:34777376)
- Interleukin-26-DNA complexes promote inflammation and dermal-epidermal separation in a modified human cryosection model of bullous pemphigoid. (PMID:36311716)
- IL-26 modulates T cell function in autoimmune hepatitis. (PMID:37155188)
- Systemic IL-26 correlates with improved asthma control in children sensitized to dog allergen. (PMID:38622712)
- Increased interleukin-26 in the peripheral joints of patients with axial spondyloarthritis and psoriatic arthritis, co-localizing with CD68-positive synoviocytes. (PMID:38799447)
- The evolving landscape of IL-10, IL-22 and IL-26 in pleurisy especially in tuberculous pleurisy. (PMID:39003443)
Cross-species orthologs
0 orthologs
Paralogs (4): IL10 (ENSG00000136634), IL19 (ENSG00000142224), IL20 (ENSG00000162891), IL24 (ENSG00000162892)
Protein
Protein identifiers
Interleukin-26 — Q9NPH9 (reviewed: Q9NPH9)
Alternative names: Protein AK155
All UniProt accessions (2): Q9NPH9, A0A7R8GUW8
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in local mechanisms of mucosal immunity and seems to have a pro-inflammatory function. May play a role in inflammatory bowel disease. Activates STAT1 and STAT3, MAPK1/3 (ERK1/2), JUN and AKT. Induces expression of SOCS3, TNF and IL-8, secretion of IL-8 and IL-10 and surface expression of ICAM1. Decreases proliferation of intestinal epithelial cells. Is inhibited by heparin.
Subunit / interactions. Homodimer.
Subcellular location. Secreted.
Tissue specificity. Expressed in HVS transformed T-cells but not other T-cell lines or primary stimulated T-cells. Expressed in colonic T-cells including Th17 inflammatory T-cells; the expression is significantly increased in serum of patients with Crohn’s disease (at protein level).
Induction. By Herpesvirus saimiri infection.
Similarity. Belongs to the IL-10 family.
RefSeq proteins (1): NP_060872* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009079 | 4_helix_cytokine-like_core | Homologous_superfamily |
| IPR020423 | IL-10_CS | Conserved_site |
| IPR020443 | IL-10/19/20/24/26 | Family |
Pfam: PF00726
UniProt features (2 total): signal peptide 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NPH9-F1 | 85.81 | 0.68 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8854691 | Interleukin-20 family signaling |
MSigDB gene sets: 77 (showing top):
GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, GOBP_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_VIA_JAK_STAT, GOBP_POSITIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE, GOBP_CELL_CELL_SIGNALING, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOBP_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, NIKOLSKY_BREAST_CANCER_12Q13_Q21_AMPLICON, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION
GO Biological Process (10): positive regulation of cytokine production (GO:0001819), immune response (GO:0006955), cell-cell signaling (GO:0007267), positive regulation of stress-activated MAPK cascade (GO:0032874), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of receptor signaling pathway via JAK-STAT (GO:0046427), negative regulation of epithelial cell proliferation (GO:0050680), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), positive regulation of ERK1 and ERK2 cascade (GO:0070374), signal transduction (GO:0007165)
GO Molecular Function (1): cytokine activity (GO:0005125)
GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytosol (GO:0005829)
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 |
|---|---|
| cell communication | 2 |
| signaling | 2 |
| positive regulation of MAPK cascade | 2 |
| cellular anatomical structure | 2 |
| cytokine production | 1 |
| regulation of cytokine production | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of multicellular organismal process | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| regulation of stress-activated MAPK cascade | 1 |
| stress-activated MAPK cascade | 1 |
| positive regulation of stress-activated protein kinase signaling cascade | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cell surface receptor signaling pathway via JAK-STAT | 1 |
| regulation of receptor signaling pathway via JAK-STAT | 1 |
| positive regulation of receptor signaling pathway via STAT | 1 |
| negative regulation of cell population proliferation | 1 |
| epithelial cell proliferation | 1 |
| regulation of epithelial cell proliferation | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| ERK1 and ERK2 cascade | 1 |
| regulation of ERK1 and ERK2 cascade | 1 |
| cellular process | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
806 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL26 | IL10RB | Q08334 | 993 |
| IL26 | IL20RA | Q9UHF4 | 980 |
| IL26 | IL22RA1 | Q8N6P7 | 921 |
| IL26 | IL20RB | Q6UXL0 | 896 |
| IL26 | IL19 | Q9UHD0 | 887 |
| IL26 | IL22 | Q9GZX6 | 831 |
| IL26 | IL24 | Q13007 | 824 |
| IL26 | IFNLR1 | Q8IU57 | 820 |
| IL26 | IL10RA | Q13651 | 807 |
| IL26 | IL17A | Q16552 | 799 |
| IL26 | IFNL2 | Q8IZJ0 | 799 |
| IL26 | IFNL1 | Q8IU54 | 797 |
| IL26 | IL17F | Q96PD4 | 741 |
| IL26 | IL23R | Q5VWK5 | 734 |
| IL26 | IFNL3 | Q8IZI9 | 724 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IL26 | YLPM1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (8): CASP6 (Affinity Capture-MS), C11orf84 (Affinity Capture-MS), YLPM1 (Affinity Capture-MS), RBMXL1 (Affinity Capture-MS), ARGLU1 (Affinity Capture-MS), S100P (Reconstituted Complex), S100A6 (Reconstituted Complex), APP (Reconstituted Complex)
ESM2 similar proteins: A2T6Z6, A7UHZ5, O35256, O35257, O46673, O77812, O97798, P01574, P01575, P01576, P01577, P01578, P03180, P05012, P09320, P0C6Z6, P0CAP9, P0DMS7, P18121, P18893, P18917, P29456, P34207, P46651, P47965, P48411, P51496, P51497, P55029, P68677, P68678, P70499, P79338, Q07370, Q0Z972, Q29055, Q5Q0V6, Q6XZW6, Q7TSL0, Q80ZF2
Diamond homologs: A2T6Z6, P03180, P0C6Z6, P0CAP9, P22301, Q9NPH9
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IL26 | up-regulates | IL10RB | binding |
| IL26 | up-regulates | IL20RA | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
425 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:68201932:C:CC | acceptor_gain | 1.0000 |
| 12:68225147:A:AC | donor_gain | 1.0000 |
| 12:68225148:C:CC | donor_gain | 1.0000 |
| 12:68225148:CA:C | donor_gain | 1.0000 |
| 12:68225148:CACA:C | donor_gain | 1.0000 |
| 12:68201927:CCAAT:C | acceptor_gain | 0.9900 |
| 12:68201928:CAAT:C | acceptor_gain | 0.9900 |
| 12:68201928:CAATC:C | acceptor_gain | 0.9900 |
| 12:68201929:AATCT:A | acceptor_loss | 0.9900 |
| 12:68201930:ATC:A | acceptor_loss | 0.9900 |
| 12:68201931:TC:T | acceptor_loss | 0.9900 |
| 12:68201932:C:CG | acceptor_loss | 0.9900 |
| 12:68201933:T:G | acceptor_loss | 0.9900 |
| 12:68202016:AC:A | donor_gain | 0.9900 |
| 12:68202017:CC:C | donor_gain | 0.9900 |
| 12:68225140:TATAC:T | donor_loss | 0.9900 |
| 12:68225141:ATAC:A | donor_loss | 0.9900 |
| 12:68225142:TACTT:T | donor_loss | 0.9900 |
| 12:68225143:ACTT:A | donor_loss | 0.9900 |
| 12:68225144:C:CA | donor_loss | 0.9900 |
| 12:68225145:TTACA:T | donor_loss | 0.9900 |
| 12:68225146:TA:T | donor_loss | 0.9900 |
| 12:68225146:TAC:T | donor_gain | 0.9900 |
| 12:68225147:A:G | donor_loss | 0.9900 |
| 12:68225147:ACA:A | donor_gain | 0.9900 |
| 12:68225148:C:T | donor_loss | 0.9900 |
| 12:68225148:CAC:C | donor_gain | 0.9900 |
| 12:68225148:CACAG:C | donor_gain | 0.9900 |
| 12:68225279:TTTTT:T | acceptor_gain | 0.9900 |
| 12:68225280:TTTT:T | acceptor_gain | 0.9900 |
AlphaMissense
1136 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:68201908:T:A | K151N | 0.969 |
| 12:68201908:T:G | K151N | 0.969 |
| 12:68225248:G:C | F88L | 0.944 |
| 12:68225248:G:T | F88L | 0.944 |
| 12:68225250:A:G | F88L | 0.944 |
| 12:68225475:A:G | L66S | 0.940 |
| 12:68201897:T:A | E155V | 0.910 |
| 12:68202024:A:C | F141L | 0.905 |
| 12:68202024:A:T | F141L | 0.905 |
| 12:68202026:A:G | F141L | 0.905 |
| 12:68201877:A:G | W162R | 0.898 |
| 12:68201877:A:T | W162R | 0.898 |
| 12:68225472:A:G | L67S | 0.897 |
| 12:68225447:A:C | F75L | 0.888 |
| 12:68225447:A:T | F75L | 0.888 |
| 12:68225449:A:G | F75L | 0.888 |
| 12:68201909:T:A | K151I | 0.883 |
| 12:68201907:C:G | A152P | 0.864 |
| 12:68202033:T:A | K138N | 0.861 |
| 12:68202033:T:G | K138N | 0.861 |
| 12:68201897:T:G | E155A | 0.853 |
| 12:68225448:A:G | F75S | 0.839 |
| 12:68225249:A:G | F88S | 0.838 |
| 12:68225598:T:A | K53N | 0.838 |
| 12:68225598:T:G | K53N | 0.838 |
| 12:68202034:T:A | K138I | 0.833 |
| 12:68201894:A:G | L156P | 0.832 |
| 12:68225245:G:C | F89L | 0.830 |
| 12:68225245:G:T | F89L | 0.830 |
| 12:68225247:A:G | F89L | 0.830 |
dbSNP variants (sampled 300 via entrez): RS1000007312 (12:68225249 A>G), RS1000134161 (12:68226783 T>C), RS1000371251 (12:68219284 T>C), RS1000437279 (12:68201447 T>G), RS1000447960 (12:68220390 A>T), RS1000508549 (12:68202976 A>T), RS1000539942 (12:68207623 T>A,C), RS1000648843 (12:68214029 C>G), RS1000870922 (12:68215205 A>G), RS1000942378 (12:68214828 C>T), RS1000969704 (12:68220950 T>G), RS1001059942 (12:68222047 A>C), RS1001163295 (12:68207379 AC>A), RS1001254848 (12:68220708 C>A), RS1001386441 (12:68222418 G>A)
Disease associations
OMIM: gene MIM:605679 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000311_11 | Ulcerative colitis | 5.000000e-07 |
| GCST000311_2 | Ulcerative colitis | 3.000000e-12 |
| GCST000624_12 | Ulcerative colitis | 4.000000e-12 |
| GCST000964_37 | Ulcerative colitis | 1.000000e-16 |
| GCST001725_19 | Inflammatory bowel disease | 9.000000e-32 |
| GCST004866_10 | Alopecia areata | 4.000000e-07 |
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 |
|---|---|---|
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| pentanal | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Mustard Gas | increases expression | 1 |
| Nickel | increases expression | 1 |
| Dinoprostone | decreases expression | 1 |
| Cadmium Chloride | increases abundance, 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): alopecia areata