IL13RA1

Summary

IL13RA1 (interleukin 13 receptor subunit alpha 1, HGNC:5974) is a protein-coding gene on chromosome Xq24, encoding Interleukin-13 receptor subunit alpha-1 (P78552). Binds with low affinity to interleukin-13 (IL13).

The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4.

Source: NCBI Gene 3597 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 150 total
• Druggable target: yes
• MANE Select transcript: NM_001560

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5974
Approved symbol	IL13RA1
Name	interleukin 13 receptor subunit alpha 1
Location	Xq24
Locus type	gene with protein product
Status	Approved
Aliases	IL-13Ra, NR4, CD213a1
Ensembl gene	ENSG00000131724
Ensembl biotype	protein_coding
OMIM	300119
Entrez	3597

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000371642, ENST00000371666, ENST00000481868, ENST00000652600, ENST00000865792, ENST00000865793, ENST00000865794, ENST00000865795, ENST00000965042

RefSeq mRNA: 1 — MANE Select: NM_001560 NM_001560

CCDS: CCDS14573

Canonical transcript exons

ENST00000371666 — 11 exons

Exon	Start	End
ENSE00000899853	118766844	118766976
ENSE00000899854	118773879	118773975
ENSE00000899855	118776427	118776511
ENSE00001125692	118749658	118749778
ENSE00001125697	118746954	118747092
ENSE00001125702	118741017	118741156
ENSE00001455886	118727606	118727726
ENSE00001896146	118791762	118794533
ENSE00003494435	118761138	118761289
ENSE00003627090	118766530	118766577
ENSE00003658303	118758055	118758242

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 98.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.9050 / max 556.1387, expressed in 1721 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197367	23.8752	1715
197366	0.6484	397
197364	0.2278	105
197365	0.1536	34

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
esophagus squamous epithelium	UBERON:0006920	98.42	gold quality
gingival epithelium	UBERON:0001949	97.89	gold quality
calcaneal tendon	UBERON:0003701	97.79	gold quality
parietal pleura	UBERON:0002400	97.68	gold quality
visceral pleura	UBERON:0002401	97.60	gold quality
pleura	UBERON:0000977	97.50	gold quality
gingiva	UBERON:0001828	97.37	gold quality
epithelium of esophagus	UBERON:0001976	97.25	gold quality
squamous epithelium	UBERON:0006914	97.19	gold quality
synovial joint	UBERON:0002217	96.85	gold quality
germinal epithelium of ovary	UBERON:0001304	96.84	gold quality
epithelium of nasopharynx	UBERON:0001951	96.23	gold quality
rectum	UBERON:0001052	96.02	gold quality
tendon	UBERON:0000043	96.00	gold quality
monocyte	CL:0000576	95.92	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.74	gold quality
lower lobe of lung	UBERON:0008949	95.66	gold quality
tibia	UBERON:0000979	95.65	gold quality
mononuclear cell	CL:0000842	95.62	gold quality
leukocyte	CL:0000738	95.36	gold quality
saphenous vein	UBERON:0007318	95.28	gold quality
pharyngeal mucosa	UBERON:0000355	95.24	gold quality
oral cavity	UBERON:0000167	95.19	gold quality
pericardium	UBERON:0002407	95.01	gold quality
colonic mucosa	UBERON:0000317	95.00	gold quality
jejunal mucosa	UBERON:0000399	94.72	gold quality
liver	UBERON:0002107	94.67	gold quality
body of tongue	UBERON:0011876	94.65	gold quality
tendon of biceps brachii	UBERON:0008188	94.56	gold quality
right lung	UBERON:0002167	94.44	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7249	no	420.15
E-MTAB-8410	no	3.41
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

114 targeting IL13RA1, 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-4425	100.00	67.59	1049
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-548AG	99.77	69.25	1492

Literature-anchored findings (GeneRIF, showing 37)

• Mutation and functional analysis in human malignant glioma cells (PMID:11939409)
• IL4RA and STAT6 are candidate genes for atopic disorders. 26 single-nucleotide polymorphisms (SNPs)and simple repeats are being reported spanning a total of 147kb in IL4RA and STAT6 genes of the Indian population (PMID:12522691)
• Allele frequency of IL13RA1 polymorphism was not associated with rapid decline of lung function in smokers. (PMID:12594065)
• These results suggest that MIP-T3 is a novel inhibitor of IL-13 signaling and may be a useful molecule in ameliorating various conditions in which IL-13 plays a central role. (PMID:12935900)
• Overexpression of IL-13Ralpha1 may play some role in pathogenesis of chronic stage of atopic dermatitis or psoriasis. (PMID:14527737)
• analysis of binding between interleukin-13 and interleukin-13 receptors IL-13Ralpha1 and IL-13Ralpha2 (PMID:15870068)
• Bronchial submucosal mast cell IL-13 receptor alpha 1 expression is higher in asthmatics than normal controls. (PMID:16918506)
• IL-13Ralpha1 polymorphism was associated with higher total IgE in children with atopic asthma (PMID:17006604)
• the IL13RA1 subunit gene -281T>G and 1365A>G polymorphisms do not contribute to asthma susceptibility or severity, although the IL13RA1 subunit gene locus might be involved in the control of immunoglobulin E production (PMID:17392323)
• the D1 domain of IL-13Ralpha1 acts as an affinity converter, through direct cytokine interactions, that allows the shared receptor to respond differentially to IL-4 and IL-13. (PMID:19586918)
• concomitant expression of IL-13Ralpha1 and IL-13Ralpha2 may be associated with the pathogenesis of idiopathic interstitial pneumonia. (PMID:19654941)
• The interleukin 13 (IL-13) pathway in human macrophages is modulated by microRNA-155 via direct targeting of interleukin 13 receptor alpha1 (IL13Ralpha1). (PMID:21097505)
• IL-13Ralpha1 is expressed on human CD4(+) T(H)17 cells (PMID:21236478)
• These results indicate that an inherited polymorphism of the IL-4R controls the ability of the human immune system to regulate the magnitude of IL-17 production (PMID:21294892)
• The IL-13R A(1) +1398 A/G polymorphism does not contribute to asthma or allergic rhinitis susceptibility. (PMID:21425907)
• the combination of rs3091307 GG/ rs2265753 GG (IL-13/IL-13Ralpha1) conveyed a significantly higher risk for developing atopic dermatitis (PMID:21913997)
• The data provide evidence for codiffusion of IL-4-A647 bound IL-4Ralpha and the type II subunit IL-13Ralpha1 fused to enhanced green fluorescent protein. (PMID:22098734)
• In Korean asthmatic children, increased serum IgE level was a multi-locus interaction between IL-4Ralpha, IL-13, IL-13Ralpha1, CD14, and CTLA4 polymorphisms. The combination of CTLA4/IL-13 and IL-13/IL-13Ralpha1 polymorphisms showed strong synergistic effects. (PMID:22376040)
• Expression of IL-4, IL-4R, and IL-13R are involved in the process of local metastases in colorectal cancer, while IL-13 expression has an impact on survival. (PMID:22441356)
• In humans, IL-13Ralpha1 lies within the PARK12 locus of susceptibility to Parkinson’s disease and may have a role in the pathogenesis of this neurodegenerative disease. (PMID:23169588)
• MiR-143 may be associated with allergic reaction in human mast cells via downregulation of IL13RA1. (PMID:23965966)
• Data show that high expression of interleukin-4 receptor IL-4Ralpha correlated with increased recurrence, while interleukin-13 receptor IL-13Ralpha1 had an inverse relationship to recurrence and survival in oral cavity squamous cell carcinoma patients. (PMID:25483786)
• miR-143 regulation of IL-13-induced inflammatory cytokine and mucus production in nasal epithelial cells from allergic rhinitis patients probably partly depends on inhibition of IL13Ralpha1. (PMID:25529447)
• required for induction of the alternative macrophage activation pathway by IL-13 but not by IL-4 (PMID:25766112)
• Results identified FAM120A in the IL13/IL13Ralpha2 signaling pathway as a key mediator of invasion and liver metastasis in colon cancer. (PMID:25896327)
• analysis of IL-4 and IL-13 receptors in cancer biology and discussion of pre-clinical and clinical studies pertaining to recombinant immunotoxins designed to target these receptors [review] (PMID:26088753)
• IL-13Ralpha1 has a protective role in bleomycin-induced pulmonary injury and repair. (PMID:26153764)
• review of IL-4 and IL-13 receptor structure, receptor regulation, signaling and experimental therapeutics [review] (PMID:26187331)
• these data suggest that microRNA-143 suppresses IL-13 activity and inflammation through targeting of IL-13Ralpha1 in epidermal keratinocytes (PMID:27048505)
• IL-13, IL-13Ralpha1, STAT6 and ZEB1 have roles in promoting epithelial-mesenchymal transition and aggressiveness of colorectal cancer cells (PMID:27533463)
• in humans and mice indicate, for the first time, a role of interleukin-13 receptor alpha1 in myocardial homeostasis and heart failure and suggests a new therapeutic target to treat heart disease. (PMID:28528324)
• High IL13RA1 expression is associated with Invasive breast Cancer. (PMID:28634667)
• sIL13ralpha1 as a circulating human protein with an unexpected role in glucose metabolism. (PMID:28874358)
• IL-13 and IL-13Ralpha1 are overexpressed in extranodal natural killer/T cell lymphoma and mediate tumor cell proliferation. (PMID:30107911)
• Identification of serum interleukin-13 and interleukin-13 receptor subunit expressions: Rheumatoid arthritis-associated interstitial lung disease. (PMID:33638296)
• Loss of Interleukin-13-Receptor-Alpha-1 Induces Apoptosis and Promotes EMT in Pancreatic Cancer. (PMID:35409019)
• MEF2D facilitates liver metastasis of gastric cancer cells through directly inducing H1X under IL-13 stimulation. (PMID:38609001)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	ghrb	ENSDARG00000007671
danio_rerio	il11ra	ENSDARG00000026736
danio_rerio	ghra	ENSDARG00000054771
danio_rerio	il6r	ENSDARG00000104474
mus_musculus	Il13ra1	ENSMUSG00000017057
rattus_norvegicus	Il13ra1	ENSRNOG00000013170
rattus_norvegicus		ENSRNOG00000078390

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), IL13RA2 (ENSG00000123496), 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-1 — P78552 (reviewed: P78552)

Alternative names: Cancer/testis antigen 19

All UniProt accessions (2): A0A494C1C4, P78552

UniProt curated annotations — full annotation on UniProt →

Function. Binds with low affinity to interleukin-13 (IL13). Together with IL4RA can form a functional receptor for IL13. Also serves as an alternate accessory protein to the common cytokine receptor gamma chain for interleukin-4 (IL4) signaling, but cannot replace the function of IL2RG in allowing enhanced interleukin-2 (IL2) binding activity.

Subunit / interactions. Interleukin-13 receptor is a complex of IL4R, IL13RA1, and possibly other components. Interacts with TRAF3IP1. Interacts with IL4.

Subcellular location. Membrane.

Tissue specificity. Ubiquitous. Highest levels in heart, liver, skeletal muscle and ovary; lowest levels in brain, lung and kidney. Also found in B-cells, T-cells and endothelial cells.

Domain organisation. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. The box 1 motif is required for JAK interaction and/or activation.

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

Isoforms (2)

UniProt ID	Names	Canonical?
P78552-1	1	yes
P78552-2	2

RefSeq proteins (1): NP_001551* (*=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
IPR040566	Il13Ra_Ig	Domain

Pfam: PF09240, PF18001

UniProt features (61 total): strand 25, glycosylation site 10, disulfide bond 6, turn 4, domain 3, topological domain 2, splice variant 2, sequence conflict 2, helix 2, short sequence motif 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
4HWB	X-RAY DIFFRACTION	2.61
3BPO	X-RAY DIFFRACTION	3
5E4E	X-RAY DIFFRACTION	3
3BPN	X-RAY DIFFRACTION	3.02

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P78552-F1	82.10	0.57

Antibody-complex structures (SAbDab): 1 — 4HWB

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 (6): 62–102, 95–117, 134–144, 173–185, 257–320, 282–296

Glycosylation sites (10): 37, 61, 105, 138, 157, 235, 265, 293, 329, 341

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 355 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MCLACHLAN_DENTAL_CARIES_UP, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_INTERLEUKIN_4, GOBP_RESPONSE_TO_PEPTIDE, HOFMANN_CELL_LYMPHOMA_UP, MODULE_45, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOCC_CELL_SURFACE, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP

GO Biological Process (3): positive regulation of immunoglobulin production (GO:0002639), cell surface receptor signaling pathway (GO:0007166), cytokine-mediated signaling pathway (GO:0019221)

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

GO Cellular Component (5): plasma membrane (GO:0005886), interleukin-13 receptor complex (GO:0005898), 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
immunoglobulin production	1
regulation of immunoglobulin production	1
positive regulation of production of molecular mediator of immune response	1
signal transduction	1
cell surface receptor signaling pathway	1
cellular response to cytokine stimulus	1
transmembrane signaling receptor activity	1
cytokine-mediated signaling pathway	1
cytokine binding	1
immune receptor activity	1
protein binding	1
binding	1
membrane	1
cell periphery	1
plasma membrane signaling receptor complex	1
plasma membrane	1
cell surface	1
side of membrane	1
protein-containing complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1343 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IL13RA1	IL13	P35225	999
IL13RA1	IL4R	P24394	999
IL13RA1	IL4	P05112	997
IL13RA1	TYK2	P29597	982
IL13RA1	JAK2	O60674	979
IL13RA1	IL13RA2	Q14627	972
IL13RA1	JAK1	P23458	925
IL13RA1	STAT6	P42226	906
IL13RA1	IL11RA	Q14626	843
IL13RA1	IL6R	P08887	805
IL13RA1	IL6ST	P40189	765
IL13RA1	IL10RA	Q13651	725
IL13RA1	JAK3	P52333	710
IL13RA1	IFNGR1	P15260	703
IL13RA1	IL5	P05113	690

IntAct

28 interactions, top by confidence:

A	B	Type	Score
IL13	IL13RA1	psi-mi:“MI:0407”(direct interaction)	0.800
IL13	IL13RA1	psi-mi:“MI:0915”(physical association)	0.800
IL13RA1	IL4	psi-mi:“MI:0407”(direct interaction)	0.610
IL4	IL13RA1	psi-mi:“MI:0915”(physical association)	0.610
IL13RA1	IL4R	psi-mi:“MI:0407”(direct interaction)	0.560
APBA3	DUSP11	psi-mi:“MI:0914”(association)	0.530
CLEC4A	SEMA7A	psi-mi:“MI:0914”(association)	0.530
IL13RA1	TRAF3IP1	psi-mi:“MI:0915”(physical association)	0.510
TRAF3IP1	IL13RA1	psi-mi:“MI:0915”(physical association)	0.510
IL13RA1	TMEM39B	psi-mi:“MI:0915”(physical association)	0.370
IL13RA1	RAP1GDS1	psi-mi:“MI:0914”(association)	0.350
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
CTLA4	TMEM120B	psi-mi:“MI:0914”(association)	0.350
NRSN1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
CLEC4A		psi-mi:“MI:0914”(association)	0.350
IL13	SPTB	psi-mi:“MI:0914”(association)	0.350
SLC4A1	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
yopM	IL13RA1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (24): MAP4K3 (Affinity Capture-MS), IL13RA1 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), IL13RA1 (Synthetic Lethality), IL13RA1 (Affinity Capture-MS), IL13RA1 (Affinity Capture-MS), IL13RA1 (Affinity Capture-MS), IL13RA1 (Reconstituted Complex), TYK2 (Affinity Capture-Western), IL13RA1 (Positive Genetic), IL13RA1 (Affinity Capture-MS), IL13RA1 (Affinity Capture-MS), IL13RA1 (Affinity Capture-MS), IL13RA1 (Affinity Capture-MS), IL13RA1 (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

Diamond homologs: O09030, P78552, Q90374, O46561, O46600, O75462, P05710, P10912, P14787, P16310, P16471, P16882, P19756, P19941, P79108, Q02092, Q04594, Q08501, Q28172, Q28235, Q28575, Q6JTA8, Q90375, Q91094, Q91513, Q95JF2, Q95ML5, Q9JI97, Q9JM58, Q9TU69, Q9XSZ1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
IL13	up-regulates	IL13RA1	binding
IL13RA1	up-regulates	TYK2	binding
IL4	up-regulates	IL13RA1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 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
immune response	5	14.7×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	4
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1612 predictions. Top by Δscore:

Variant	Effect	Δscore
X:118741005:T:TA	acceptor_gain	1.0000
X:118761136:A:AG	acceptor_gain	1.0000
X:118761136:AGT:A	acceptor_gain	1.0000
X:118761137:G:GG	acceptor_gain	1.0000
X:118761137:GT:G	acceptor_gain	1.0000
X:118761137:GTG:G	acceptor_gain	1.0000
X:118761137:GTGA:G	acceptor_gain	1.0000
X:118761242:G:GT	donor_gain	1.0000
X:118761290:G:GG	donor_gain	1.0000
X:118766835:A:AG	acceptor_gain	1.0000
X:118766835:AT:A	acceptor_gain	1.0000
X:118766836:T:G	acceptor_gain	1.0000
X:118766836:T:TA	acceptor_gain	1.0000
X:118766842:A:G	acceptor_gain	1.0000
X:118766859:AT:A	acceptor_gain	1.0000
X:118766860:T:TA	acceptor_gain	1.0000
X:118766867:T:TA	acceptor_gain	1.0000
X:118773871:T:G	acceptor_gain	1.0000
X:118773874:TCCAG:T	acceptor_loss	1.0000
X:118773875:CCAGG:C	acceptor_loss	1.0000
X:118773876:CAGGT:C	acceptor_loss	1.0000
X:118773878:GGT:G	acceptor_gain	1.0000
X:118773878:GGTA:G	acceptor_gain	1.0000
X:118773878:GGTAA:G	acceptor_gain	1.0000
X:118773976:G:C	donor_loss	1.0000
X:118773977:T:A	donor_loss	1.0000
X:118791760:A:AG	acceptor_gain	1.0000
X:118791761:G:GG	acceptor_gain	1.0000
X:118727723:ACGGG:A	donor_loss	0.9900
X:118727725:GG:G	donor_gain	0.9900

AlphaMissense

2860 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:118741084:G:C	W52C	0.995
X:118741084:G:T	W52C	0.995
X:118749728:G:C	W146C	0.995
X:118749728:G:T	W146C	0.995
X:118749690:T:C	C134R	0.993
X:118749690:T:A	C134S	0.992
X:118749691:G:C	C134S	0.992
X:118741082:T:A	W52R	0.991
X:118741082:T:C	W52R	0.991
X:118749726:T:A	W146R	0.991
X:118749726:T:C	W146R	0.991
X:118766949:A:C	S328R	0.991
X:118766951:T:A	S328R	0.991
X:118766951:T:G	S328R	0.991
X:118766957:G:C	W330C	0.991
X:118766957:G:T	W330C	0.991
X:118749720:T:A	C144S	0.990
X:118749720:T:C	C144R	0.990
X:118749721:G:C	C144S	0.990
X:118766958:A:C	S331R	0.989
X:118766960:C:A	S331R	0.989
X:118766960:C:G	S331R	0.989
X:118776441:T:A	I374K	0.988
X:118741076:T:A	W50R	0.987
X:118741076:T:C	W50R	0.987
X:118749722:T:G	C144W	0.985
X:118766896:T:A	V310D	0.985
X:118766950:G:T	S328I	0.985
X:118776453:T:A	I378N	0.982
X:118776455:C:T	P379S	0.982

dbSNP variants (sampled 300 via entrez): RS1000014765 (X:118794577 G>A), RS1000023919 (X:118734438 A>G), RS1000031583 (X:118785164 G>A,T), RS1000110914 (X:118780443 G>T), RS1000159472 (X:118741793 A>G,T), RS1000215932 (X:118768247 G>A), RS1000313077 (X:118753312 A>G,T), RS1000324145 (X:118775205 A>C), RS1000435739 (X:118767841 G>A), RS1000498189 (X:118786895 C>T), RS1000545198 (X:118770173 G>A), RS1000698998 (X:118797286 T>G), RS1000705208 (X:118778491 T>A), RS1000791065 (X:118732545 C>T), RS1000837977 (X:118800692 C>T)

Disease associations

OMIM: gene MIM:300119 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004904_12	Body mass index	3.000000e-17
GCST007847_6	Type 2 diabetes	1.000000e-14

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): CHEMBL3831285 (PROTEIN COMPLEX)

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

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
eblasakimab	Binding	10.57	pKd

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases methylation, affects cotreatment, affects methylation, decreases expression	3
trichostatin A	increases expression, affects cotreatment	3
Tretinoin	increases expression	3
Valproic Acid	affects expression, decreases methylation, increases expression	3
mercuric bromide	increases expression, affects cotreatment	2
Cisplatin	increases expression, decreases response to substance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
bisphenol F	decreases methylation	1
fulvic acid	affects cotreatment, decreases reaction, increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
sulindac sulfide	decreases expression	1
potassium chromate(VI)	decreases expression	1
tibolone	increases expression	1
nickel sulfate	increases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
torcetrapib	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	decreases methylation	1
gardiquimod	decreases expression, decreases reaction	1
Calcimycin	affects cotreatment, decreases reaction, increases expression	1
Temozolomide	decreases expression	1
Decitabine	increases expression	1
Sunitinib	decreases expression	1

Cellosaurus cell lines

8 cell lines: 7 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1UD	Abcam HeLa IL13RA1 KO	Cancer cell line	Female
CVCL_D1NF	Abcam K-562 IL13RA1 KO	Cancer cell line	Female
CVCL_D2K0	Abcam Raji IL13RA1 KO	Cancer cell line	Male
CVCL_D7S1	Ubigene A-549 IL13RA1 KO	Cancer cell line	Male
CVCL_D8N2	Ubigene HCT 116 IL13RA1 KO	Cancer cell line	Male
CVCL_D9H0	Ubigene HEK293 IL13RA1 KO	Transformed cell line	Female
CVCL_E0EW	Ubigene HeLa IL13RA1 KO	Cancer cell line	Female
CVCL_UQ81	Abcam Jurkat IL13RA1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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