IL20RB
gene geneOn this page
Also known as DIRS1IL-20R2MGC34923
Summary
IL20RB (interleukin 20 receptor subunit beta, HGNC:6004) is a protein-coding gene on chromosome 3q22.3, encoding Interleukin-20 receptor subunit beta (Q6UXL0). The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24.
IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).
Source: NCBI Gene 53833 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 48 total — 1 likely-pathogenic
- MANE Select transcript:
NM_144717
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6004 |
| Approved symbol | IL20RB |
| Name | interleukin 20 receptor subunit beta |
| Location | 3q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DIRS1, IL-20R2, MGC34923 |
| Ensembl gene | ENSG00000174564 |
| Ensembl biotype | protein_coding |
| OMIM | 605621 |
| Entrez | 53833 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 nonsense_mediated_decay, 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000329582, ENST00000469964, ENST00000475972, ENST00000484501, ENST00000491483, ENST00000907829
RefSeq mRNA: 1 — MANE Select: NM_144717
NM_144717
CCDS: CCDS3093
Canonical transcript exons
ENST00000329582 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002319447 | 136957983 | 136958201 |
| ENSE00002319932 | 136980466 | 136980592 |
| ENSE00003462120 | 136989441 | 136989565 |
| ENSE00003546290 | 136995414 | 136995556 |
| ENSE00003615935 | 136991938 | 136992088 |
| ENSE00003630967 | 137010113 | 137011085 |
| ENSE00003660567 | 136982160 | 136982350 |
Expression profiles
Bgee: expression breadth ubiquitous, 180 present calls, max score 99.50.
FANTOM5 (CAGE): breadth broad, TPM avg 5.9732 / max 406.7284, expressed in 489 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 38756 | 4.5047 | 443 |
| 38755 | 0.9018 | 227 |
| 38757 | 0.3069 | 137 |
| 38758 | 0.1246 | 69 |
| 202943 | 0.0748 | 42 |
| 202942 | 0.0603 | 30 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 99.50 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.25 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.77 | gold quality |
| upper leg skin | UBERON:0004262 | 97.61 | gold quality |
| skin of leg | UBERON:0001511 | 97.55 | gold quality |
| zone of skin | UBERON:0000014 | 97.47 | gold quality |
| penis | UBERON:0000989 | 96.93 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.89 | gold quality |
| skin of hip | UBERON:0001554 | 96.71 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.61 | gold quality |
| gingiva | UBERON:0001828 | 96.50 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.07 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.93 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.21 | gold quality |
| nipple | UBERON:0002030 | 93.79 | gold quality |
| oral cavity | UBERON:0000167 | 92.13 | gold quality |
| vagina | UBERON:0000996 | 90.09 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 89.37 | gold quality |
| buccal mucosa cell | CL:0002336 | 85.91 | gold quality |
| body of tongue | UBERON:0011876 | 83.79 | gold quality |
| esophagus | UBERON:0001043 | 82.86 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 81.25 | gold quality |
| tibial nerve | UBERON:0001323 | 81.17 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 80.39 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.42 | silver quality |
| mouth mucosa | UBERON:0003729 | 77.24 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 77.19 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 76.58 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 76.42 | gold quality |
| tongue | UBERON:0001723 | 75.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting IL20RB, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-3616-5P | 99.55 | 67.02 | 989 |
| HSA-MIR-573 | 99.55 | 67.44 | 955 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-5589-3P | 99.29 | 68.30 | 1443 |
| HSA-MIR-223-5P | 99.24 | 68.82 | 1206 |
| HSA-MIR-6876-3P | 98.97 | 65.69 | 765 |
| HSA-MIR-626 | 98.89 | 66.21 | 762 |
| HSA-MIR-374B-3P | 98.63 | 68.24 | 1360 |
| HSA-MIR-6826-3P | 98.19 | 66.32 | 1153 |
| HSA-MIR-3155A | 98.16 | 66.09 | 965 |
| HSA-MIR-3155B | 98.16 | 66.09 | 965 |
| HSA-MIR-484 | 98.16 | 66.92 | 1074 |
| HSA-MIR-6870-3P | 98.08 | 65.10 | 692 |
| HSA-MIR-4494 | 97.86 | 64.93 | 850 |
| HSA-MIR-6765-3P | 97.83 | 64.59 | 1165 |
| HSA-MIR-4314 | 97.50 | 67.30 | 1369 |
| HSA-MIR-6781-3P | 97.44 | 66.85 | 970 |
| HSA-MIR-6851-3P | 95.73 | 65.11 | 688 |
| HSA-MIR-7109-3P | 94.23 | 67.19 | 743 |
Literature-anchored findings (GeneRIF, showing 7)
- forms stable complex with interleukin-19 and interleukin-20 [IL-20R1][IL-20R2] (PMID:14580208)
- The hypotheses that genetic variations of the IL-20-RI influence susceptibility to psoriasis and single nucleotide polymorphisms (SNPs) in the IL20RA and IL20RB genes in psoriasis patients were investigated. (PMID:18480827)
- Complete mda-7/IL-24 receptors (IL-22R1/IL-20R2 and IL-20R1/IL-20R2) are seldom expressed in liver cancer cell lines. (PMID:19666410)
- crystallographic asymmetric unit contains one IL-20-IL-20R1-IL-20R2 complex, corresponding to a solvent content of approximately 54% (PMID:22232181)
- The crystal structure of the IL-20/IL-20R1/IL-20R2 complex reveals how type I and II complexes discriminate cognate from noncognate ligands (PMID:22802649)
- Trabecular meshwork cells express IL-20 receptors; Mutation of the T104 residue in IL-20R2 leads to a reduction in STAT3 phosphorylation as well as decreased matrix metalloproteinase activity (PMID:24455976)
- Interleukin 20 receptor subunit beta (IL20RB) predicts poor prognosis and regulates immune cell infiltration in clear cell renal cell carcinoma. (PMID:35883015)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Il20rb | ENSMUSG00000044244 |
| rattus_norvegicus | Il20rb | ENSRNOG00000023214 |
Paralogs (11): IL20RA (ENSG00000016402), IFNGR1 (ENSG00000027697), IL10RA (ENSG00000110324), F3 (ENSG00000117525), IFNAR1 (ENSG00000142166), IL22RA1 (ENSG00000142677), IFNAR2 (ENSG00000159110), IFNGR2 (ENSG00000159128), IL22RA2 (ENSG00000164485), IFNLR1 (ENSG00000185436), IL10RB (ENSG00000243646)
Protein
Protein identifiers
Interleukin-20 receptor subunit beta — Q6UXL0 (reviewed: Q6UXL0)
Alternative names: Fibronectin type III domain containing 6, IL-20R2
All UniProt accessions (4): Q6UXL0, F8WAV8, F8WC67, H7C5S5
UniProt curated annotations — full annotation on UniProt →
Function. The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL22RA1/IL20RB dimer is a receptor for IL20 and IL24.
Subunit / interactions. Heterodimer with IL20RA and heterodimer with IL22RA1.
Subcellular location. Membrane.
Tissue specificity. Widely expressed with highest levels in skin and testis. Highly expressed in psoriatic skin.
Similarity. Belongs to the type II cytokine receptor family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6UXL0-1 | 1 | yes |
| Q6UXL0-3 | 2 |
RefSeq proteins (1): NP_653318* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003961 | FN3_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR015373 | Interferon/interleukin_rcp_dom | Domain |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR050650 |
Pfam: PF01108, PF09294
UniProt features (33 total): strand 15, splice variant 3, helix 3, disulfide bond 2, topological domain 2, domain 2, glycosylation site 2, signal peptide 1, chain 1, transmembrane region 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6DF3 | X-RAY DIFFRACTION | 2.15 |
| 4DOH | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6UXL0-F1 | 83.91 | 0.65 |
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): 202–223, 89–97
Glycosylation sites (2): 40, 134
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8854691 | Interleukin-20 family signaling |
MSigDB gene sets: 164 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_DENDRITIC_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_INFLAMMATORY_RESPONSE_TO_ANTIGENIC_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_INTERLEUKIN_4, GOBP_RESPONSE_TO_PEPTIDE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION
GO Biological Process (14): negative regulation of type IV hypersensitivity (GO:0001808), inflammatory response to antigenic stimulus (GO:0002437), immune response-inhibiting signal transduction (GO:0002765), cytokine-mediated signaling pathway (GO:0019221), negative regulation of type II interferon production (GO:0032689), negative regulation of interleukin-2 production (GO:0032703), positive regulation of interleukin-10 production (GO:0032733), positive regulation of interleukin-4 production (GO:0032753), T cell proliferation (GO:0042098), negative regulation of T cell proliferation (GO:0042130), homeostasis of number of cells within a tissue (GO:0048873), CD8-positive, alpha-beta T cell homeostasis (GO:0160165), T cell homeostasis (GO:0043029), regulation of T cell activation (GO:0050863)
GO Molecular Function (3): cytokine receptor activity (GO:0004896), interleukin-20 binding (GO:0042015), protein binding (GO:0005515)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
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 |
|---|---|
| negative regulation of cytokine production | 2 |
| positive regulation of cytokine production | 2 |
| T cell activation | 2 |
| cytokine binding | 2 |
| type IV hypersensitivity | 1 |
| regulation of type IV hypersensitivity | 1 |
| negative regulation of T cell mediated immunity | 1 |
| negative regulation of hypersensitivity | 1 |
| inflammatory response | 1 |
| immune response | 1 |
| immune response-regulating signaling pathway | 1 |
| cell surface receptor signaling pathway | 1 |
| cellular response to cytokine stimulus | 1 |
| type II interferon production | 1 |
| regulation of type II interferon production | 1 |
| interleukin-2 production | 1 |
| regulation of interleukin-2 production | 1 |
| interleukin-10 production | 1 |
| regulation of interleukin-10 production | 1 |
| interleukin-4 production | 1 |
| regulation of interleukin-4 production | 1 |
| lymphocyte proliferation | 1 |
| T cell proliferation | 1 |
| regulation of T cell proliferation | 1 |
| negative regulation of lymphocyte proliferation | 1 |
| negative regulation of T cell activation | 1 |
| tissue homeostasis | 1 |
| homeostasis of number of cells | 1 |
| T cell homeostasis | 1 |
| lymphocyte homeostasis | 1 |
| regulation of lymphocyte activation | 1 |
| transmembrane signaling receptor activity | 1 |
| cytokine-mediated signaling pathway | 1 |
| immune receptor activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1015 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL20RB | IL22RA1 | Q8N6P7 | 999 |
| IL20RB | IL24 | Q13007 | 995 |
| IL20RB | IL20RA | Q9UHF4 | 989 |
| IL20RB | IL19 | Q9UHD0 | 977 |
| IL20RB | IL10RA | Q13651 | 910 |
| IL20RB | IL26 | Q9NPH9 | 896 |
| IL20RB | IL22 | Q9GZX6 | 744 |
| IL20RB | IFNL1 | Q8IU54 | 704 |
| IL20RB | IL10 | P22301 | 681 |
| IL20RB | IFNL3 | Q8IZI9 | 680 |
| IL20RB | STAT3 | P40763 | 604 |
| IL20RB | IL10RB | Q08334 | 559 |
| IL20RB | IL6 | P05231 | 545 |
| IL20RB | IL22RA2 | Q969J5 | 541 |
| IL20RB | IL17B | Q9UHF5 | 492 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IL20RB | IL20 | psi-mi:“MI:0915”(physical association) | 0.600 |
| IL20 | IL20RB | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| IL20 | IL20RB | psi-mi:“MI:0915”(physical association) | 0.600 |
| IL20RB | IL19 | psi-mi:“MI:0915”(physical association) | 0.600 |
| IL19 | IL20RB | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| IL19 | IL20RB | psi-mi:“MI:0915”(physical association) | 0.600 |
| MAL | IL20RB | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL20RB | B4GALT5 | psi-mi:“MI:0914”(association) | 0.530 |
| IL20RA | IL20RB | psi-mi:“MI:0915”(physical association) | 0.520 |
| IL20RB | IL22RA1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IL22RA1 | IL20RB | psi-mi:“MI:0915”(physical association) | 0.400 |
| IL20RB | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| MAL | IL20RB | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (49): IFNGR1 (Affinity Capture-MS), MYADM (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), BSCL2 (Affinity Capture-MS), NMU (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), ZDHHC9 (Affinity Capture-MS), NDFIP2 (Affinity Capture-MS), HLA-A (Affinity Capture-MS), POM121 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), FGFR1 (Affinity Capture-MS), NCR3LG1 (Affinity Capture-MS), C5orf15 (Affinity Capture-MS), TMEM59 (Affinity Capture-MS)
ESM2 similar proteins: K7NA32, K7NAJ3, O09030, O70458, O70535, P14753, P16310, P17181, P19235, P21183, P22272, P22273, P24055, P26955, P31785, P33896, P34902, P40190, P40223, P40321, P42701, P42702, P42703, P78552, Q00560, Q04790, Q07303, Q28589, Q5XNR9, Q60837, Q65Z14, Q6PHB0, Q6UXL0, Q764M8, Q7TNI4, Q80XF5, Q8K5B1, Q8MJS1, Q8NI17, Q95118
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IL19 | up-regulates | IL20RB | binding |
| IL20 | up-regulates | IL20RB | binding |
| IL20RB | up-regulates | STAT3 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 36 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 523198 | GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1 | Likely pathogenic |
SpliceAI
1465 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:136946293:TCGGT:T | donor_loss | 1.0000 |
| 3:136946294:CGGTA:C | donor_loss | 1.0000 |
| 3:136946295:GGTA:G | donor_loss | 1.0000 |
| 3:136946296:G:GG | donor_gain | 1.0000 |
| 3:136946297:T:TC | donor_loss | 1.0000 |
| 3:136948257:A:AG | acceptor_gain | 1.0000 |
| 3:136948258:G:GA | acceptor_gain | 1.0000 |
| 3:136948258:GCCA:G | acceptor_gain | 1.0000 |
| 3:136948258:GCCAA:G | acceptor_gain | 1.0000 |
| 3:136982159:GGGA:G | acceptor_gain | 1.0000 |
| 3:136982351:G:GG | donor_gain | 1.0000 |
| 3:136995408:TTCCA:T | acceptor_loss | 1.0000 |
| 3:136995409:TCCA:T | acceptor_loss | 1.0000 |
| 3:136995411:CAG:C | acceptor_loss | 1.0000 |
| 3:136995413:GGA:G | acceptor_gain | 1.0000 |
| 3:136995565:G:GG | donor_gain | 1.0000 |
| 3:137010112:GAAA:G | acceptor_gain | 1.0000 |
| 3:136948254:TTTA:T | acceptor_loss | 0.9900 |
| 3:136948256:TA:T | acceptor_loss | 0.9900 |
| 3:136948258:G:GT | acceptor_loss | 0.9900 |
| 3:136948258:GC:G | acceptor_gain | 0.9900 |
| 3:136948258:GCC:G | acceptor_gain | 0.9900 |
| 3:136958199:CAG:C | donor_gain | 0.9900 |
| 3:136958199:CAGG:C | donor_loss | 0.9900 |
| 3:136958200:AG:A | donor_gain | 0.9900 |
| 3:136958200:AGGTA:A | donor_loss | 0.9900 |
| 3:136958201:GG:G | donor_gain | 0.9900 |
| 3:136958202:G:GG | donor_gain | 0.9900 |
| 3:136958202:GTAA:G | donor_loss | 0.9900 |
| 3:136982158:AG:A | acceptor_gain | 0.9900 |
AlphaMissense
2033 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:136980539:G:C | W54C | 0.989 |
| 3:136980539:G:T | W54C | 0.989 |
| 3:136980537:T:A | W54R | 0.987 |
| 3:136980537:T:C | W54R | 0.987 |
| 3:136982279:G:C | R112P | 0.985 |
| 3:136982282:T:A | V113D | 0.984 |
| 3:136980580:T:A | V68D | 0.978 |
| 3:136982335:T:C | F131L | 0.976 |
| 3:136982337:T:A | F131L | 0.976 |
| 3:136982337:T:G | F131L | 0.976 |
| 3:136982243:C:T | T100I | 0.975 |
| 3:136989527:T:C | F165L | 0.972 |
| 3:136989529:C:A | F165L | 0.972 |
| 3:136989529:C:G | F165L | 0.972 |
| 3:136980517:A:T | N47I | 0.971 |
| 3:136980521:G:A | M48I | 0.971 |
| 3:136980521:G:C | M48I | 0.971 |
| 3:136980521:G:T | M48I | 0.971 |
| 3:136982233:T:A | C97S | 0.968 |
| 3:136982234:G:C | C97S | 0.968 |
| 3:136980585:T:G | Y70D | 0.965 |
| 3:136982316:G:C | W124C | 0.965 |
| 3:136982316:G:T | W124C | 0.965 |
| 3:136992052:A:C | S216R | 0.965 |
| 3:136992054:C:A | S216R | 0.965 |
| 3:136992054:C:G | S216R | 0.965 |
| 3:136980518:C:A | N47K | 0.964 |
| 3:136980518:C:G | N47K | 0.964 |
| 3:136982193:G:C | W83C | 0.964 |
| 3:136982193:G:T | W83C | 0.964 |
dbSNP variants (sampled 300 via entrez): RS1000084834 (3:137004742 G>A), RS1000140701 (3:137007505 C>T), RS1000191817 (3:137007753 G>A), RS1000207122 (3:136992969 A>G), RS1000251920 (3:136971323 A>G,T), RS1000287113 (3:136958809 C>G), RS1000392742 (3:136957477 A>G), RS1000455567 (3:137001198 C>T), RS1000472503 (3:137008867 G>A), RS1000499011 (3:136977915 A>C), RS1000530114 (3:136960467 C>A,T), RS1000536684 (3:136991524 C>G,T), RS1000591042 (3:136973112 T>C), RS1000595145 (3:136959047 T>C), RS1000600269 (3:136992734 T>C)
Disease associations
OMIM: gene MIM:605621 | disease phenotypes: MIM:617635
GenCC curated gene-disease
Mondo (1): intellectual disability, autosomal dominant 47 (MONDO:0030912)
Orphanet (1): STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (Orphanet:502434)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002202_4 | Anxiety in major depressive disorder | 7.000000e-06 |
| GCST002318_119 | Rheumatoid arthritis | 9.000000e-10 |
| GCST002541_4 | Menarche (age at onset) | 1.000000e-09 |
| GCST004521_157 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST005023_23 | Initial pursuit acceleration | 6.000000e-06 |
| GCST006914_20 | Sleep duration | 1.000000e-08 |
| GCST006914_26 | Sleep duration | 2.000000e-06 |
| GCST006959_37 | Rheumatoid arthritis | 9.000000e-08 |
| GCST008163_592 | Height | 3.000000e-06 |
| GCST90002407_410 | White blood cell count | 4.000000e-09 |
| GCST90020028_1722 | Hip circumference adjusted for BMI | 4.000000e-08 |
| GCST90020028_1723 | Hip circumference adjusted for BMI | 5.000000e-09 |
| GCST90020029_1358 | Waist circumference adjusted for body mass index | 4.000000e-10 |
| GCST90020029_1359 | Waist circumference adjusted for body mass index | 2.000000e-10 |
| GCST90020029_681 | Waist circumference adjusted for body mass index | 8.000000e-09 |
| GCST90020029_707 | Waist circumference adjusted for body mass index | 1.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0008434 | initial pursuit acceleration |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: catalytic receptor — IL-10 receptor family
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, decreases expression | 6 |
| entinostat | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 2 |
| Cisplatin | affects expression, increases expression | 2 |
| Smoke | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Valproic Acid | affects cotreatment, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| Asian ginseng | decreases expression, decreases reaction | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| propionaldehyde | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cupric chloride | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | affects expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| palbociclib | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 3 cancer cell line, 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7S4 | Ubigene A-549 IL20RB KO | Cancer cell line | Male |
| CVCL_D8N5 | Ubigene HCT 116 IL20RB KO | Cancer cell line | Male |
| CVCL_E0F1 | Ubigene HeLa IL20RB KO | Cancer cell line | Female |
| CVCL_E8EE | HEK-Blue IL-19/IL-20 | Transformed cell line | Female |
| CVCL_E8EF | HEK-Blue IL-20 | Transformed cell line | Female |
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): intellectual disability, autosomal dominant 47