IL22
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Also known as ILTIFIL-21zcyto18IL-TIFIL-D110TIFaTIFIL-23IL-22MGC79382MGC79384
Summary
IL22 (interleukin 22, HGNC:14900) is a protein-coding gene on chromosome 12q15, encoding Interleukin-22 (Q9GZX6). Cytokine that plays a critical role in modulating tissue responses during inflammation.
This gene is a member of the IL10 family of cytokines that mediate cellular inflammatory responses. The encoded protein functions in antimicrobial defense at mucosal surfaces and in tissue repair. This protein also has pro-inflammatory properties and plays a role in in the pathogenesis of several intestinal diseases. The encoded protein is a crucial cytokine that regulates host immunity in infectious diseases, including COVID-19 (disease caused by SARS-CoV-2).
Source: NCBI Gene 50616 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 47 total
- Druggable target: yes
- MANE Select transcript:
NM_020525
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14900 |
| Approved symbol | IL22 |
| Name | interleukin 22 |
| Location | 12q15 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384 |
| Ensembl gene | ENSG00000127318 |
| Ensembl biotype | protein_coding |
| OMIM | 605330 |
| Entrez | 50616 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000328087, ENST00000538666
RefSeq mRNA: 1 — MANE Select: NM_020525
NM_020525
CCDS: CCDS8982
Canonical transcript exons
ENST00000538666 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000920697 | 68252504 | 68252647 |
| ENSE00000920698 | 68252764 | 68252829 |
| ENSE00001100627 | 68251513 | 68251578 |
| ENSE00002202652 | 68253583 | 68253604 |
| ENSE00002210960 | 68253263 | 68253494 |
| ENSE00002266681 | 68248242 | 68248876 |
Expression profiles
Bgee: expression breadth broad, 57 present calls, max score 78.67.
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 78.67 | gold quality |
| diaphragm | UBERON:0001103 | 67.15 | gold quality |
| pancreatic ductal cell | CL:0002079 | 63.42 | silver quality |
| decidua | UBERON:0002450 | 62.84 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 58.16 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 58.09 | gold quality |
| cranial nerve II | UBERON:0000941 | 57.72 | silver quality |
| tibialis anterior | UBERON:0001385 | 57.36 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 53.67 | gold quality |
| vermiform appendix | UBERON:0001154 | 53.62 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 53.42 | gold quality |
| deltoid | UBERON:0001476 | 53.37 | gold quality |
| cartilage tissue | UBERON:0002418 | 53.35 | gold quality |
| quadriceps femoris | UBERON:0001377 | 53.24 | gold quality |
| triceps brachii | UBERON:0001509 | 52.90 | gold quality |
| vastus lateralis | UBERON:0001379 | 52.47 | gold quality |
| pons | UBERON:0000988 | 52.43 | gold quality |
| hair follicle | UBERON:0002073 | 52.43 | gold quality |
| caecum | UBERON:0001153 | 51.81 | gold quality |
| myocardium | UBERON:0002349 | 51.72 | gold quality |
| heart right ventricle | UBERON:0002080 | 51.41 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 51.17 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 51.07 | gold quality |
| upper arm skin | UBERON:0004263 | 50.47 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 50.01 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| bone marrow cell | CL:0002092 | 49.00 | silver quality |
| kidney epithelium | UBERON:0004819 | 48.99 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-29 | yes | 20572.29 |
| E-CURD-89 | no | 5150.58 |
| E-ANND-3 | no | 2.92 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AHR, FOXP3, IKZF1, MAF, RORA, RORC, RUNX1, STAT3
miRNA regulators (miRDB)
45 targeting IL22, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-7159-3P | 99.51 | 70.17 | 1920 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-8054 | 99.48 | 70.81 | 2084 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
Literature-anchored findings (GeneRIF, showing 40)
- Interleukin-22 (IL-22) activates the JAK/STAT, ERK, JNK, and p38 MAP kinase pathways in a rat hepatoma cell line. (PMID:12087100)
- Data report the crystallographic structure of recombinant human interleukin-22, which has been solved at 2.0 angstrom resolution using the SIRAS method. (PMID:12176383)
- role for IL-22 in the regulation of pulmonary inflammation (PMID:15039135)
- T cell-derived cytokine IL-22 is a survival factor for hepatocytes (PMID:15122762)
- IL-21 contributes to the ongoing Th1 mucosal response in Crohn’s disease. (PMID:15765404)
- IL-22 acts on human colonic subepithelial myofibroblaststo elicit expression of proinflammatory cytokines and matrix-degrading molecules indicating proinflammatory/remodeling roles in inflammatory bowel disease. (PMID:16143135)
- IL-22 is increased in active Crohn’s disease and promotes proinflammatory gene expression and IEC migration. (PMID:16537974)
- IL-22 and the acute phase protein pathway are associated with innate host resistance to HIV infection. (PMID:17182579)
- IL-22 promotes liver cell regeneration by increasing hepatic cell proliferation and hepatocyte migration through the activation of Akt and STAT signaling, which is abrogated by SOCS-1/3 overexpression. (PMID:17204547)
- These data suggest that systemic IL-22 may contribute to the prevention of systemic inflammation provoked by LPS present in the blood of CD patients through its induction of hepatic LBP. (PMID:17442982)
- Genetic variation in IL-10RA/IL-22 genes may play a modulatory role in the outcome of hepatitis C infection. (PMID:17845543)
- Hepatic IL-22 expression is up-regulated in viral hepatitis but IL-22 does not directly regulate antiviral proteins and has, in contrast to IFN-alpha, no effect on HCV replication. (PMID:18191408)
- The role of IL-22 in mucosal immunity against Klebsiella pneumoniae infections is reported. (PMID:18264110)
- Crystallization of the IL-22-IL-22R1 complex may aid in understanding of the structural basis for IL-22-mediated cross-talk between the immune system and epithelial cells. (PMID:18391423)
- demonstrate the importance of the IL-22 autocrine pathway in a lymphoid malignancy, and reveal yet another novel function of NPM-ALK (PMID:18509351)
- Molecular basis for the distinct affinities and specificities of IL-22 and IL-10 receptor chains that regulate cellular targeting and signal transduction to elicit effective immune responses. (PMID:18599299)
- Peripheral blood mononuclear cells from immunocompetent Candida-infected patients secreted more IL-17 and IL-22 than those of both chronic mucocutaneous candidiasis patients and healthy, non-infected controls. (PMID:18615114)
- A 1.9A crystal structure of the IL-22/IL-22R1 complex is reported. (PMID:18675809)
- identifies those amino acid side chains of IL-22 that are individually important for optimal binding to IL-22R (PMID:18675824)
- Up-regulation of interleukin-22 is associated with non-small cell lung carcinoma. (PMID:18927282)
- NK-22 cells provide an innate source of IL-22 that may help constrain inflammation and protect mucosal sites (PMID:18978771)
- A decrease in serum IL-22 levels in patients with SLE suggests that this cytokine may be implicated in the pathomechanisms of this disease. (PMID:19046958)
- stage 3 immature natural killer cells are highly enriched for IL-22 and IL-26 messenger RNA, and IL-22 protein production, but do not express IL-17A or IL-17F (PMID:19244159)
- Comparison of IL-22/IL-22BP and IL-22/IL-22R1 crystal structures shows that both receptors display an overlapping IL-22 binding surface, which is consistent with the inhibitory role played by IL-22 binding protein. (PMID:19285080)
- data demonstrate that IL-22-producing T cells in humans may play an important role in the defense against fungal infections such as C. albicans (PMID:19449309)
- IL-22 gene polymorphisms not significantly associated with the presence or clinical features of chronic plaque psoriasis (PMID:19469905)
- The frequencies of IL-17-positive and IL-22-positive CD4+ T cells were increased in peripheral blood mononuclear cells from patients with ankylosing spondylitis and patients with rheumatoid arthritis. (PMID:19479869)
- Recent studies highlight the importance of regulatory cytokines transforming growth factor-beta, IL-10, and IL-22 in controlling differentiation and function of lymphocytes under steady-state and inflammatory conditions, and minimizing tissue damage. (PMID:19481975)
- IL-17 and IL-22 play complementary roles in human protection against Kala Azar, and that a defect in Th17 induction may increase the risk of Kala Azar. (PMID:19620772)
- Data show that number of peripheral Th17 lymphocytes, expression of CCR6 on Th cells, and ex vivo IL-23, anti-CD3 and anti-CD28 induced production of IL-22 by PBMC were significantly elevated in asthmatic patients. (PMID:19811428)
- Data show that in lesional skin of psoriasis patients, highly elevated IL-20 levels strongly correlated with IL-22, and to a lesser extent, with IL-17A and TNF-alpha. (PMID:19830738)
- NK cells can contribute to immune defenses against M. tuberculosis through production of IL-22. (PMID:19864591)
- identified a subset of Th cells that infiltrates the epidermis inflammatory skin disorders and is characterized by the secretion of IL-22 and TNF-alpha, but not IFN-gamma, IL-4, or IL-17 (PMID:19920355)
- IL-17A+IFN-gamma-, IL-17A+IL-22+IFN-gamma-, and IL-17A+IL-22-IFN-gamma- cells were increased in psoriatics (PMID:20032993)
- Essentially identical phenotypes in transgenic mouse models for IL-20, IL-22, and IL-24 suggest that the three related cytokines play a redundant role in keratinocyte differentiation and proliferation. (PMID:20061404)
- expression enhanced in infiltrating inflammatory cells in the inflamed epithelium in ulcerative colitis mucosa (PMID:20065946)
- Data report a modest but significant elevation of serum IL-22 detectable in abdominal sepsis patients. (PMID:20220564)
- Recent findings on the role of Th17 cells and their associated cytokines (IL-17 and IL-22) in the pathogenesis of liver diseases, are summarized. (PMID:20305686)
- Findings suggest that the rs1179251 SNP in IL-22 is associated with risk of colon cancer. (PMID:20339910)
- IL-22, likely via activation of STAT3 and downstream genes (e.g., SOCS3), is able to protect against cell stretch and pulmonary baro-/biotrauma by enhancing epithelial cell resistibility (PMID:20463292)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Il22 | ENSMUSG00000074695 |
| mus_musculus | Il22b | ENSMUSG00000090461 |
| rattus_norvegicus | Il22 | ENSRNOG00000007365 |
Protein
Protein identifiers
Interleukin-22 — Q9GZX6 (reviewed: Q9GZX6)
Alternative names: Cytokine Zcyto18, IL-10-related T-cell-derived-inducible factor
All UniProt accessions (2): Q9GZX6, A0A7R8C389
UniProt curated annotations — full annotation on UniProt →
Function. Cytokine that plays a critical role in modulating tissue responses during inflammation. Plays an essential role in the regeneration of epithelial cells to maintain barrier function after injury and for the prevention of further tissue damage. Unlike most of the cytokines, has no effect on immune cells. Signals through a heterodimeric receptor composed of two subunits, the specific receptor IL22RA1 which is present on non-immune cells in many organs and the shared subunit IL10RB. Ligation of IL22RA1 with IL22 induces activation of the tyrosine kinases JAK1 and TYK2, which in turn activates STAT3. In turn, promotes cell survival and proliferation through STAT3, ERK1/2 and PI3K/AKT pathways. Promotes phosphorylation of GSK3B at ‘Ser-9’ and CTTN. Promotes epithelial cell spreading.
Subcellular location. Secreted.
Similarity. Belongs to the IL-10 family.
RefSeq proteins (1): NP_065386* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009079 | 4_helix_cytokine-like_core | Homologous_superfamily |
| IPR020423 | IL-10_CS | Conserved_site |
| IPR020453 | IL-22 | Family |
Pfam: PF14565
UniProt features (19 total): helix 9, glycosylation site 3, disulfide bond 2, signal peptide 1, chain 1, strand 1, turn 1, sequence variant 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3DLQ | X-RAY DIFFRACTION | 1.9 |
| 1M4R | X-RAY DIFFRACTION | 2 |
| 3Q1S | X-RAY DIFFRACTION | 2.15 |
| 3DGC | X-RAY DIFFRACTION | 2.5 |
| 1YKB | X-RAY DIFFRACTION | 2.6 |
| 3G9V | X-RAY DIFFRACTION | 2.76 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9GZX6-F1 | 89.30 | 0.78 |
Antibody-complex structures (SAbDab): 1 — 3Q1S
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): 40–132, 89–178
Glycosylation sites (3): 54, 68, 97
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-8854691 | Interleukin-20 family signaling |
| R-HSA-9725370 | Signaling by ALK fusions and activated point mutants |
MSigDB gene sets: 327 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, chr4q25, REACTOME_INNATE_IMMUNE_SYSTEM, ZHAN_MULTIPLE_MYELOMA_PR_DN, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, RORA1_01, FISCHER_G1_S_CELL_CYCLE, GOBP_RESPONSE_TO_CORTICOSTEROID, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN
GO Biological Process (5): acute-phase response (GO:0006953), inflammatory response (GO:0006954), negative regulation of inflammatory response (GO:0050728), response to glucocorticoid (GO:0051384), signal transduction (GO:0007165)
GO Molecular Function (3): cytokine activity (GO:0005125), interleukin-22 receptor binding (GO:0045518), protein binding (GO:0005515)
GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Signaling by Interleukins | 1 |
| Signaling by ALK in cancer | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| acute inflammatory response | 1 |
| defense response | 1 |
| inflammatory response | 1 |
| negative regulation of defense response | 1 |
| negative regulation of response to external stimulus | 1 |
| regulation of inflammatory response | 1 |
| response to corticosteroid | 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 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2358 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL22 | IL22RA1 | Q8N6P7 | 998 |
| IL22 | IL10RB | Q08334 | 997 |
| IL22 | IL22RA2 | Q969J5 | 969 |
| IL22 | IL17A | Q16552 | 967 |
| IL22 | IL17F | Q96PD4 | 939 |
| IL22 | IL10 | P22301 | 939 |
| IL22 | IFNG | P01579 | 926 |
| IL22 | CD4 | P01730 | 914 |
| IL22 | IFNL2 | Q8IZJ0 | 894 |
| IL22 | IL23A | Q9NPF7 | 890 |
| IL22 | IL20RA | Q9UHF4 | 867 |
| IL22 | IL25 | Q9H293 | 866 |
| IL22 | REG3G | Q6UW15 | 864 |
| IL22 | IL6 | P05231 | 860 |
| IL22 | STAT3 | P40763 | 858 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IL22RA1 | IL22 | psi-mi:“MI:0407”(direct interaction) | 0.850 |
| IL22 | IL22RA1 | psi-mi:“MI:0407”(direct interaction) | 0.850 |
| IL22 | IL10RB | psi-mi:“MI:0915”(physical association) | 0.590 |
| IL22 | IL22RA2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (9): IL22RA2 (Reconstituted Complex), IL22 (Negative Genetic), NOD2 (Negative Genetic), IL22 (Proximity Label-MS), IL10RB (Affinity Capture-Western), IL22RA1 (Affinity Capture-Western), IL22 (Reconstituted Complex), S100P (Reconstituted Complex), S100A6 (Reconstituted Complex)
ESM2 similar proteins: A0A2R8QHQ6, A0A8M9PDM1, A6PWV3, A6QL94, D3Z690, F5HC71, O02699, O12980, O77515, P04401, P05402, P0DJF3, P0DP43, P12401, P17150, P18917, P19159, P20826, P21583, P21702, P33579, P33580, P46685, P52173, P79169, Q08125, Q14512, Q28586, Q29030, Q4R6V5, Q5VZ72, Q60440, Q62575, Q6AY06, Q6P7N7, Q920I0, Q95J76, Q95MD2, Q95N18, Q9CQ58
Diamond homologs: P55029, Q9GZX6, Q9JJY8, Q9JJY9
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IL22 | up-regulates | IL10RB | binding |
| IL22 | down-regulates | IL22RA2 | binding |
| IL22RA2 | up-regulates | IL22 | binding |
| IL22 | up-regulates | IL22RA1 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
999 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:68251507:TCCTA:T | donor_loss | 1.0000 |
| 12:68251508:CCTA:C | donor_loss | 1.0000 |
| 12:68251509:CTA:C | donor_loss | 1.0000 |
| 12:68251510:TACC:T | donor_loss | 1.0000 |
| 12:68251511:A:T | donor_loss | 1.0000 |
| 12:68251512:C:CT | donor_loss | 1.0000 |
| 12:68251574:ATATG:A | acceptor_gain | 1.0000 |
| 12:68251575:TATG:T | acceptor_gain | 1.0000 |
| 12:68251576:ATG:A | acceptor_gain | 1.0000 |
| 12:68251577:TG:T | acceptor_gain | 1.0000 |
| 12:68251578:GC:G | acceptor_loss | 1.0000 |
| 12:68251579:C:CA | acceptor_loss | 1.0000 |
| 12:68251579:C:CC | acceptor_gain | 1.0000 |
| 12:68251581:A:C | acceptor_gain | 1.0000 |
| 12:68252499:CTTA:C | donor_loss | 1.0000 |
| 12:68252500:TTAC:T | donor_loss | 1.0000 |
| 12:68252502:A:AC | donor_gain | 1.0000 |
| 12:68252502:ACAC:A | donor_loss | 1.0000 |
| 12:68252503:C:CG | donor_gain | 1.0000 |
| 12:68252503:CA:C | donor_gain | 1.0000 |
| 12:68252503:CACA:C | donor_gain | 1.0000 |
| 12:68252503:CACAT:C | donor_gain | 1.0000 |
| 12:68252514:AG:A | donor_gain | 1.0000 |
| 12:68252515:G:C | donor_gain | 1.0000 |
| 12:68252545:C:CT | donor_gain | 1.0000 |
| 12:68252546:C:CT | donor_gain | 1.0000 |
| 12:68252550:T:TA | donor_gain | 1.0000 |
| 12:68252643:CTCAT:C | acceptor_gain | 1.0000 |
| 12:68252644:TCAT:T | acceptor_gain | 1.0000 |
| 12:68252645:CAT:C | acceptor_gain | 1.0000 |
AlphaMissense
1190 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:68248853:T:A | K162N | 0.996 |
| 12:68248853:T:G | K162N | 0.996 |
| 12:68248805:G:C | C178W | 0.990 |
| 12:68252613:A:G | L96P | 0.987 |
| 12:68253309:A:C | F47C | 0.987 |
| 12:68248806:C:T | C178Y | 0.986 |
| 12:68248842:T:A | E166V | 0.986 |
| 12:68248854:T:A | K162I | 0.986 |
| 12:68248807:A:G | C178R | 0.985 |
| 12:68252817:C:G | D67H | 0.981 |
| 12:68248818:A:G | L174P | 0.980 |
| 12:68252634:C:G | C89S | 0.979 |
| 12:68252635:A:G | C89R | 0.979 |
| 12:68252635:A:T | C89S | 0.979 |
| 12:68252633:G:C | C89W | 0.977 |
| 12:68252634:C:T | C89Y | 0.976 |
| 12:68253270:G:T | A60D | 0.976 |
| 12:68253309:A:G | F47S | 0.976 |
| 12:68251532:A:G | L148P | 0.975 |
| 12:68253271:C:G | A60P | 0.975 |
| 12:68252816:T:A | D67V | 0.972 |
| 12:68248855:T:C | K162E | 0.971 |
| 12:68252537:G:C | F121L | 0.971 |
| 12:68252537:G:T | F121L | 0.971 |
| 12:68252539:A:G | F121L | 0.971 |
| 12:68252606:G:C | F98L | 0.971 |
| 12:68252606:G:T | F98L | 0.971 |
| 12:68252608:A:G | F98L | 0.971 |
| 12:68253308:G:C | F47L | 0.971 |
| 12:68253308:G:T | F47L | 0.971 |
dbSNP variants (sampled 300 via entrez): RS1000297653 (12:68254262 C>A,T), RS1000691546 (12:68249905 C>A,T), RS1000802859 (12:68254820 G>A), RS1001517336 (12:68253254 G>A,T), RS1001645220 (12:68250371 C>T), RS1002377421 (12:68248514 G>C), RS1002651140 (12:68251780 A>G), RS1003194711 (12:68251879 C>T), RS1003245735 (12:68251647 G>A), RS1003542068 (12:68252807 G>A), RS1003866112 (12:68249299 G>A,T), RS1003985952 (12:68254798 G>T), RS1004614448 (12:68251419 A>G), RS1005645717 (12:68252431 A>G), RS1006166147 (12:68255486 C>A)
Disease associations
OMIM: gene MIM:605330 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000311_2 | Ulcerative colitis | 3.000000e-12 |
| GCST001725_19 | Inflammatory bowel disease | 9.000000e-32 |
| GCST004866_10 | Alopecia areata | 4.000000e-07 |
| GCST005951_145 | Body mass index | 4.000000e-08 |
| GCST007843_7 | Rheumatoid arthritis | 4.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3712915 (SINGLE PROTEIN)
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 |
|---|---|---|
| bisphenol A | increases methylation, increases secretion | 2 |
| 2-(1’H-indole-3’-carbonyl)thiazole-4-carboxylic acid methyl ester | affects expression, affects secretion | 2 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 2 |
| Nickel | increases expression | 2 |
| CBP30 compound | decreases expression | 1 |
| CDM-3008 | decreases expression, decreases reaction | 1 |
| TL8-506 | affects cotreatment, increases secretion | 1 |
| ferulic acid | decreases reaction, increases expression, increases reaction | 1 |
| 4,4’-bisphenol F | decreases secretion | 1 |
| fucoxanthin | decreases expression, decreases reaction | 1 |
| betadex | decreases reaction, increases expression, increases reaction | 1 |
| tryptanthrine | decreases reaction, increases expression | 1 |
| monophosphoryl lipid A | increases secretion | 1 |
| saponin QA-21V1 | increases secretion | 1 |
| 6-formylindolo(3,2-b)carbazole | affects expression | 1 |
| Qingdai compound | increases expression, decreases reaction | 1 |
| bisphenol S | decreases secretion | 1 |
| KL001 | affects cotreatment, decreases reaction, increases expression, increases phosphorylation | 1 |
| Hydrogen Peroxide | increases secretion | 1 |
| Latex | increases expression | 1 |
| Paraquat | increases expression, increases reaction, decreases reaction | 1 |
| Perfume | increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Piperacillin | increases secretion | 1 |
| Poly I-C | affects cotreatment, increases secretion | 1 |
| Polychlorinated Biphenyls | increases expression | 1 |
| Sodium Hydroxide | affects response to substance | 1 |
| Tetrachlorodibenzodioxin | increases secretion | 1 |
| Valproic Acid | decreases methylation | 1 |
| Dinoprostone | decreases 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, rheumatoid arthritis