IL13RA2

Summary

IL13RA2 (interleukin 13 receptor subunit alpha 2, HGNC:5975) is a protein-coding gene on chromosome Xq23, encoding Interleukin-13 receptor subunit alpha-2 (Q14627). Cell surface receptor that plays a role in the regulation of IL-13-mediated responses.

The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13.

Source: NCBI Gene 3598 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 70 total
• Druggable target: yes
• MANE Select transcript: NM_000640

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5975
Approved symbol	IL13RA2
Name	interleukin 13 receptor subunit alpha 2
Location	Xq23
Locus type	gene with protein product
Status	Approved
Aliases	IL-13R, IL13BP, CD213a2, CT19
Ensembl gene	ENSG00000123496
Ensembl biotype	protein_coding
OMIM	300130
Entrez	3598

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000243213, ENST00000371936, ENST00000468224, ENST00000958003

RefSeq mRNA: 1 — MANE Select: NM_000640 NM_000640

CCDS: CCDS14565

Canonical transcript exons

ENST00000243213 — 10 exons

Exon	Start	End
ENSE00001139047	115003982	115004106
ENSE00001343920	115017553	115017616
ENSE00003503057	115017176	115017302
ENSE00003603464	115015670	115015821
ENSE00003890119	115009521	115009666
ENSE00003891049	115014421	115014574
ENSE00003892458	115005197	115005315
ENSE00003892645	115013769	115013889
ENSE00003895367	115007932	115008076
ENSE00003895877	115010644	115010828

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 98.65.

FANTOM5 (CAGE): breadth broad, TPM avg 3.3747 / max 509.6753, expressed in 363 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200232	2.3821	277
200235	0.7296	123
200233	0.1873	95
200234	0.0757	16

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	98.65	gold quality
male germ cell	CL:0000015	95.75	gold quality
descending thoracic aorta	UBERON:0002345	93.08	gold quality
thoracic aorta	UBERON:0001515	89.96	gold quality
ascending aorta	UBERON:0001496	89.84	gold quality
right testis	UBERON:0004534	89.16	gold quality
left testis	UBERON:0004533	88.76	gold quality
testis	UBERON:0000473	87.15	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.08	gold quality
renal glomerulus	UBERON:0000074	86.96	gold quality
metanephric glomerulus	UBERON:0004736	86.03	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.05	gold quality
adenohypophysis	UBERON:0002196	82.84	gold quality
ventricular zone	UBERON:0003053	82.44	gold quality
choroid plexus epithelium	UBERON:0003911	81.67	silver quality
pituitary gland	UBERON:0000007	81.00	gold quality
tendon of biceps brachii	UBERON:0008188	79.54	gold quality
islet of Langerhans	UBERON:0000006	78.24	gold quality
hypothalamus	UBERON:0001898	76.69	gold quality
adult organism	UBERON:0007023	76.41	gold quality
nucleus accumbens	UBERON:0001882	72.07	gold quality
synovial joint	UBERON:0002217	71.55	gold quality
metanephros	UBERON:0000081	71.28	gold quality
aorta	UBERON:0000947	71.13	gold quality
vermiform appendix	UBERON:0001154	71.05	gold quality
seminal vesicle	UBERON:0000998	70.46	gold quality
kidney epithelium	UBERON:0004819	70.31	gold quality
cartilage tissue	UBERON:0002418	68.20	gold quality
cortical plate	UBERON:0005343	68.10	gold quality
cortex of kidney	UBERON:0001225	68.07	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-11	yes	970.82
E-MTAB-8530	yes	812.11
E-ANND-3	no	3.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): JUN, STAT6

miRNA regulators (miRDB)

8 targeting IL13RA2, 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-4738-3P	98.98	67.98	1846
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-1279	97.83	67.50	1898
HSA-MIR-937-5P	97.43	68.39	667
HSA-MIR-873-3P	96.84	66.09	786
HSA-MIR-5702	96.68	68.21	958
HSA-MIR-3672	94.46	65.67	646
HSA-MIR-6864-3P	94.46	65.97	625

Literature-anchored findings (GeneRIF, showing 40)

• novel mechanism by which IFN-gamma can regulate IL-13 responses. (PMID:11786536)
• IL-13Ralpha(345-354) (WLPFGFILI) induced a CD8(+) T-cell line that specifically produced IFN-gamma in response to HLA-A2+ T2 cells pulsed with the relevant peptide and lysed these cells. (PMID:12231526)
• interleukin-13 receptor possibly plays an important part in the early inflammatory process of psoriasis; however, its function is lost in the psoriatic keratinocytes. (PMID:12445201)
• IL-4/IL-13-induced IL-13Ralpha2 expression is potentiated by TNF-alpha (PMID:12485861)
• The 5’ flanking region of IL-13Ra2 has been isolated and cloned and the gene control region functionally characterized. (PMID:12816724)
• analysis of binding between interleukin-13 and interleukin-13 receptors IL-13Ralpha1 and IL-13Ralpha2 (PMID:15870068)
• TGF-beta1 production and fibrosis require IL-13 signaling through the IL-13alpha2 receptor (PMID:16327802)
• The inhibitory effects of the IL-13 receptor alpha 2 subunit on IL-13 signaling are dependent on both the level of expression of the receptor and the concentration of IL-13. (PMID:16751396)
• Immunohistochemical analyses revealed that 83% of ovarian cancer specimens express IL-13Ralpha2, whereas normal ovary samples expressed none or very low levels. (PMID:16902988)
• data suggest that IL13RA2 gene polymorphisms may be involved in susceptibility to systemic sclerosis (PMID:16981293)
• A polymorphic variant of IL-13 (R110Q) was demonstrated to have altered binding affinity to IL-13 receptor alpha2. (PMID:17560640)
• Highly variable expression of IL13Ralpha2 protein both within and across specimens of glioblastoma multiforme. (PMID:17804706)
• IL-13Ralpha2 and Olig2 have been identified and confirmed to be interesting candidate genes whose differential expression likely plays a role in malignant progression of astrocytomas (PMID:17917751)
• RasGRP4 translocates to varied intracellular compartments via its DAG/PMA-binding domain to regulate signaling pathways that control gene and protein expression in MCs, including the cell’s ability to respond to IL-13. (PMID:18024961)
• soluble form of IL-13Ralpha(2) may therefore modulate mucus overproduction by IL-13 through the pathway including IL-13Ralpha(1) in normal human bronchial epithelial cells (PMID:18028464)
• IL-13R alpha 2, EphA2, and Fra-1 are attractive therapeutic targets representing molecular denominators of high-grade astrocytomas. One hundred percent of GBM tumors overexpress at least one of these proteins. (PMID:18172271)
• Humans only express the membrane bound form of the IL-13 receptor alpha 2 (PMID:18307523)
• 13Ralpha2 protein and mRNA are expressed to significantly higher levels in brainstem glioma than in normal brain tissue (PMID:18430795)
• The feasibility of MRI to visualize different phases of immune response when IL-13Ralpha2-specific CTLs are administered directly to the glioma tumor bed. (PMID:18559603)
• IL-13Ralpha2 is expressed by both primary bronchial epithelial cells and fibroblasts as an intracellular protein with a diffuse cytoplasmic distribution; in vivo, IL-13Ralpha2 is expressed in the airway mucosa mainly by bronchial epithelial cells (PMID:18564628)
• analysis of cDNA clone and prokaryotic expression of human interleukin-13 receptor [alpha]2 chain (PMID:18677476)
• study concludes that matrix metalloproteinase-8 cleaves IL-13R alpha 2 in vitro and contributes to the solubilization of IL-13R alpha 2 in vivo (PMID:18694590)
• Hepatic stellate cells in sinusoidal lesions of liver from patients with nonalcoholic steatohepatitis express high levels of high-affinity IL-13R (IL-13 receptor alpha2), whereas fatty liver and normal liver specimens do not express IL-13Ralpha2. (PMID:18802068)
• Human adrenomedullin up-regulates interleukin-13 receptor alpha2 chain in prostate cancer in vitro and in vivo. (PMID:19010904)
• Cytokines IL-13Ralpha2, IL-4, IL-6, IL-8 and TNF-alpha may play roles in the pathogenesis of pediatric HSP/HSPN. (PMID:19149920)
• Human and murine neuroendocrine pheochromocytoma overexpress the IL-13Ralpha2 chain, and an IL-13PE-based receptor-directed anticancer approach may prove useful in treatment for metastatic pheochromocytoma patients. (PMID:19491224)
• concomitant expression of IL-13Ralpha1 and IL-13Ralpha2 may be associated with the pathogenesis of idiopathic interstitial pneumonia. (PMID:19654941)
• IL-13Ralpha2 may serve as a prognostic biomarker of invasion and metastasis in pancreatic cancer. (PMID:19887609)
• Soluble IL-13R2alpha and membrane IL-13R2alpha isoforms are both derived from the membrane form of the human receptor. An alternatively spliced sIL-13R2alpha transcript is absent in humans, compared with mice. (PMID:20007572)
• IL-13Ralpha2-positive tumors were targeted by IL-13PE cytotoxin in vitro and in vivo in an orthotopic murine model of human pancreatic cancer. (PMID:20068108)
• In eosinophil lineage-deficient IL-13 transgenic mice with eosinophilic esophagitis, IL-13-induced remodeling is significantly enhanced by IL-13Ralpha2 deletion, indicating an inhibitory effect of IL-13Ralpha2. (PMID:20543112)
• Data show differences in IL-4/IL-13 receptor subunit expression and responsiveness to IL-4 based on the extent of airway epithelial cell differentiation and suggest that these differences may have functional consequences in airway inflammation. (PMID:20729386)
• The expression level of IL-13Ralpha2 was significantly reduced in first-recurrent glioblastomas (frGBMs) compared to primary GBMs, and significantly reduced in all untreated malignant astrocytomas compared with treated frGBMs. (PMID:20805641)
• IL-13Ralpha2 may be an important endogenous regulator of IL-13-induced cutaneous inflammation in humans. (PMID:20971924)
• A novel function of histone modification in the regulation of IL-13Ralpha2 in pancreatic cancer cell lines in vitro and in vivo, was identified. (PMID:21477288)
• expression of IL-13Ralpha2 prevents apoptosis and contributes to tumor growth. (PMID:21596889)
• Cells with high IL-13Ralpha2 expression rapidly and efficiently deplete extracellular IL-13 and could have important implications for the design and characterization of IL-13 antagonists. (PMID:21622864)
• IL-13RALPHA2 is involved in cancer metastasis through activation of ERK/AP-1 (PMID:21858811)
• did not identify any SNPs in the IL-4, IL-4R and IL-13Ralpha2 genes that were associated with atopic dermatitis (PMID:21913997)
• Data showed that polymorphisms in IL4, IL13, and their receptors do not play a role in SSc and do not influence the expression of their corresponding transcript in peripheral blood cells. (PMID:22045834)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	il13ra2	ENSDARG00000039436
mus_musculus	Il13ra2	ENSMUSG00000031289
rattus_norvegicus	Il13ra2	ENSRNOG00000032973

Paralogs (23): CRLF1 (ENSG00000006016), IL12RB2 (ENSG00000081985), IL5RA (ENSG00000091181), IL12RB1 (ENSG00000096996), IL27RA (ENSG00000104998), EBI3 (ENSG00000105246), GHR (ENSG00000112964), PRLR (ENSG00000113494), LIFR (ENSG00000113594), LEPR (ENSG00000116678), CSF3R (ENSG00000119535), CNTFR (ENSG00000122756), IL13RA1 (ENSG00000131724), IL6ST (ENSG00000134352), IL11RA (ENSG00000137070), OSMR (ENSG00000145623), IL2RG (ENSG00000147168), IL6R (ENSG00000160712), IL23R (ENSG00000162594), IL31RA (ENSG00000164509), IL3RA (ENSG00000185291), CSF2RA (ENSG00000198223), CRLF2 (ENSG00000205755)

Protein

Protein identifiers

Interleukin-13 receptor subunit alpha-2 — Q14627 (reviewed: Q14627)

Alternative names: Interleukin-13-binding protein

All UniProt accessions (1): Q14627

UniProt curated annotations — full annotation on UniProt →

Function. Cell surface receptor that plays a role in the regulation of IL-13-mediated responses. Functions as a decoy receptor that inhibits IL-13- and IL-4-mediated signal transduction via the JAK-STAT pathway and thereby modulates immune responses and inflammation. Serves as a functional signaling receptor for IL-13 in an alternative pathway involving AP-1 ultimately leading to the production of TGFB1.

Subunit / interactions. Interacts with IL4RA. Interacts with high affinity to interleukin-13 (IL13), but not to interleukin-4 (IL4).

Subcellular location. Cell membrane.

Post-translational modifications. Cleaved by MMP8 leading to a soluble form that is also able to interact with IL13.

Domain organisation. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. The cytoplasmic domain functions as an inhibitor of IL-4 or IL-13-dependent activation of the Jak-Stat pathway.

Induction. Expression is induced by STAT6 and NF-kappa-B.

Similarity. Belongs to the type I cytokine receptor family. Type 5 subfamily.

RefSeq proteins (1): NP_000631* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003532	Short_hematopoietin_rcpt_2_CS	Conserved_site
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR015321	TypeI_recpt_CBD	Domain
IPR036116	FN3_sf	Homologous_superfamily

Pfam: PF09240

UniProt features (46 total): strand 22, glycosylation site 4, disulfide bond 4, domain 3, sequence conflict 2, topological domain 2, helix 2, turn 2, signal peptide 1, chain 1, sequence variant 1, transmembrane region 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3LB6	X-RAY DIFFRACTION	3.05

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14627-F1	86.74	0.64

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (4): 65–113, 145–155, 184–197, 269–316

Glycosylation sites (4): 215, 290, 299, 115

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6785807	Interleukin-4 and Interleukin-13 signaling

MSigDB gene sets: 204 (showing top): REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_NEGATIVE_REGULATION_OF_PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY, MODULE_64, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_REGULATION_OF_EXOCYTOSIS, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_EXOCYTOSIS, GOBP_NEGATIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, STOSSI_RESPONSE_TO_ESTRADIOL, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT

GO Biological Process (9): negative regulation of immunoglobulin production (GO:0002638), positive regulation of cell population proliferation (GO:0008284), immunoglobulin mediated immune response (GO:0016064), cytokine-mediated signaling pathway (GO:0019221), interleukin-13-mediated signaling pathway (GO:0035772), negative regulation of mast cell degranulation (GO:0043305), cell surface receptor signaling pathway (GO:0007166), transforming growth factor beta receptor signaling pathway (GO:0007179), transforming growth factor beta1 production (GO:0032905)

GO Molecular Function (3): cytokine receptor activity (GO:0004896), cytokine binding (GO:0019955), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), signaling receptor complex (GO:0043235), 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
cytokine-mediated signaling pathway	2
cellular anatomical structure	2
immunoglobulin production	1
regulation of immunoglobulin production	1
negative regulation of production of molecular mediator of immune response	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
B cell mediated immunity	1
cell surface receptor signaling pathway	1
cellular response to cytokine stimulus	1
cellular response to interleukin-13	1
negative regulation of myeloid leukocyte mediated immunity	1
negative regulation of leukocyte degranulation	1
mast cell degranulation	1
regulation of mast cell degranulation	1
signal transduction	1
cellular response to transforming growth factor beta stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
transforming growth factor beta production	1
transmembrane signaling receptor activity	1
cytokine binding	1
immune receptor activity	1
protein binding	1
binding	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
protein-containing complex	1

Protein interactions and networks

STRING

1263 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IL13RA2	IL13	P35225	998
IL13RA2	IL4R	P24394	996
IL13RA2	IL13RA1	P78552	972
IL13RA2	CHI3L1	P30923	948
IL13RA2	IL4	P05112	928
IL13RA2	ERBB2	P04626	847
IL13RA2	STAT6	P42226	822
IL13RA2	EPHA2	P29317	800
IL13RA2	TMEM219	Q86XT9	782
IL13RA2	JAK1	P23458	753
IL13RA2	IL5	P05113	730
IL13RA2	MAGEA1	P43355	685
IL13RA2	PMEL	P40967	678
IL13RA2	MAGED4B	Q96JG8	678
IL13RA2	EGFR	P00533	674

IntAct

50 interactions, top by confidence:

A	B	Type	Score
CHI3L1	IL13RA2	psi-mi:“MI:0915”(physical association)	0.800
IL13	IL13RA2	psi-mi:“MI:0407”(direct interaction)	0.800
IL13	IL13RA2	psi-mi:“MI:0915”(physical association)	0.800
IL13RA2	IL13	psi-mi:“MI:0915”(physical association)	0.800
CHI3L1	IL13RA2	psi-mi:“MI:0407”(direct interaction)	0.800
IL13RA2	CHI3L1	psi-mi:“MI:0915”(physical association)	0.800
TMEM219	IL13RA2	psi-mi:“MI:0915”(physical association)	0.710
IL13RA2	TMEM219	psi-mi:“MI:0915”(physical association)	0.710
IL13RA2	CHEK1	psi-mi:“MI:0914”(association)	0.640
IL13RA2	PLPP6	psi-mi:“MI:0915”(physical association)	0.560
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
LGALS3	IL13RA2	psi-mi:“MI:0915”(physical association)	0.500

BioGRID (215): IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), IL13RA2 (Two-hybrid), TSHZ3 (Affinity Capture-MS), ENDOD1 (Affinity Capture-MS), NEK6 (Affinity Capture-MS)

ESM2 similar proteins: K7NA32, K7NAJ3, O09030, O70458, O70535, O88786, O95256, P17181, P20352, P21183, P26951, P29460, P31785, P33896, P34902, P40321, P42533, P42702, P42703, P43432, P46658, P48095, P78552, P97378, Q01344, Q04790, Q14627, Q28589, Q28938, Q5XNR9, Q61729, Q65Z14, Q6UXL0, Q764M8, Q865Y3, Q8K4B4, Q8K5B1, Q8MJS1, Q8NI17, Q8VHK6

Diamond homologs: O88786, Q14627, Q8VHK6, Q95LF0, P14787

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 21 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of apoptotic process	7	11.6×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

70 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1335 predictions. Top by Δscore:

Variant	Effect	Δscore
X:115014416:TTAAC:T	donor_loss	1.0000
X:115014417:TAACC:T	donor_loss	1.0000
X:115014418:AACC:A	donor_loss	1.0000
X:115014419:A:C	donor_gain	1.0000
X:115014420:C:CG	donor_loss	1.0000
X:115014461:TTGA:T	donor_gain	1.0000
X:115014571:TGGT:T	acceptor_gain	1.0000
X:115014573:GT:G	acceptor_gain	1.0000
X:115014574:TC:T	acceptor_loss	1.0000
X:115014575:C:CA	acceptor_loss	1.0000
X:115014575:C:CC	acceptor_gain	1.0000
X:115014576:T:C	acceptor_loss	1.0000
X:115014579:T:TC	acceptor_gain	1.0000
X:115015664:ACTT:A	donor_loss	1.0000
X:115015665:CTT:C	donor_loss	1.0000
X:115015666:TTA:T	donor_loss	1.0000
X:115015667:TA:T	donor_loss	1.0000
X:115015669:C:CA	donor_loss	1.0000
X:115015669:CCTT:C	donor_gain	1.0000
X:115015817:GTTAA:G	acceptor_gain	1.0000
X:115015818:TTAA:T	acceptor_gain	1.0000
X:115015819:TAA:T	acceptor_gain	1.0000
X:115015820:AA:A	acceptor_gain	1.0000
X:115015820:AACTG:A	acceptor_loss	1.0000
X:115015822:C:CC	acceptor_gain	1.0000
X:115015822:C:CG	acceptor_loss	1.0000
X:115015823:T:C	acceptor_loss	1.0000
X:115017171:TTTA:T	donor_loss	1.0000
X:115017172:TTA:T	donor_loss	1.0000
X:115017173:TA:T	donor_loss	1.0000

AlphaMissense

2491 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:115013819:C:A	W157C	0.998
X:115013819:C:G	W157C	0.998
X:115007960:A:C	S323R	0.995
X:115007960:A:T	S323R	0.995
X:115007962:T:G	S323R	0.995
X:115010799:C:G	C184S	0.994
X:115010800:A:T	C184S	0.994
X:115013821:A:G	W157R	0.994
X:115013821:A:T	W157R	0.994
X:115007961:C:A	S323I	0.993
X:115010800:A:G	C184R	0.993
X:115013826:C:G	C155S	0.993
X:115013827:A:T	C155S	0.993
X:115015704:A:G	L71P	0.993
X:115015759:A:G	W53R	0.993
X:115015759:A:T	W53R	0.993
X:115010798:A:C	C184W	0.992
X:115013827:A:G	C155R	0.992
X:115015757:C:A	W53C	0.992
X:115015757:C:G	W53C	0.992
X:115010760:C:G	C197S	0.991
X:115010761:A:T	C197S	0.991
X:115013825:A:C	C155W	0.991
X:115013857:A:G	C145R	0.990
X:115007999:G:C	S310R	0.988
X:115007999:G:T	S310R	0.988
X:115008001:T:G	S310R	0.988
X:115009567:C:G	C269S	0.988
X:115009568:A:T	C269S	0.988
X:115013855:G:C	C145W	0.988

dbSNP variants (sampled 300 via entrez): RS1000698631 (X:115007741 C>T), RS1001165087 (X:115007092 T>C), RS1001616535 (X:115017783 C>T), RS1001871177 (X:115008430 A>C), RS1002531608 (X:115008883 A>G), RS1002541895 (X:115012486 C>T), RS1003800910 (X:115010856 G>C), RS1003867906 (X:115003725 A>T), RS1003925598 (X:115013421 G>C), RS1004574944 (X:115004384 G>A), RS1005302961 (X:115015424 T>A), RS1005807486 (X:115006432 C>T), RS1005960167 (X:115005992 A>G), RS1006749962 (X:115016896 A>C), RS1006978085 (X:115007002 C>A)

Disease associations

OMIM: gene MIM:300130 | 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: yes

ChEMBL targets (1): CHEMBL3713941 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — IL-2 receptor family

CTD chemical–gene interactions

62 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases expression	4
Estradiol	affects cotreatment, decreases expression, decreases reaction, increases expression, increases reaction	3
Cadmium Chloride	increases expression, affects reaction	3
bisphenol A	decreases methylation, affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Arsenic	increases expression, affects cotreatment, decreases expression, increases abundance	2
Benzo(a)pyrene	increases expression, affects methylation	2
Endosulfan	increases expression	2
Folic Acid	affects expression, affects response to substance, affects cotreatment, increases expression	2
Progesterone	decreases expression, decreases reaction, increases reaction, affects cotreatment	2
Silicon Dioxide	increases expression	2
Tretinoin	decreases expression, increases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
bisphenol F	decreases methylation	1
4-(2-aminoethyl)benzenesulfonylfluoride	affects cotreatment, decreases expression, decreases reaction	1
sodium arsenate	increases abundance, increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	affects cotreatment, decreases expression	1
lead chloride	affects cotreatment, decreases expression	1
cupric chloride	increases expression	1
cadmium sulfate	decreases expression, affects cotreatment	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
diallyl trisulfide	increases expression	1
N-(2(R)-2-(hydroxamidocarbonylmethyl)-4-methylpentanoyl)-L-tryptophan methylamide	affects cotreatment, decreases expression, decreases reaction	1
SB 203580	decreases expression	1
U 0126	increases reaction, affects cotreatment, decreases expression	1
2-palmitoylglycerol	increases expression	1
candoxin	increases expression	1
MRK 003	decreases expression	1
incobotulinumtoxinA	increases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B0ZF	Abcam A-375 IL13RA2 KO	Cancer cell line	Female
CVCL_D1T8	Abcam U-87MG IL13RA2 KO	Cancer cell line	Male
CVCL_E6U5	Genomeditech HEK-293 H_IL13RA2	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.