IL3RA

Summary

IL3RA (interleukin 3 receptor subunit alpha, HGNC:6012) is a protein-coding gene on chromosome Xp22.33 and Yp11.2, encoding Interleukin-3 receptor subunit alpha (P26951). Cell surface receptor for IL3 expressed on hematopoietic progenitor cells, monocytes and B-lymphocytes that controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells.

The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found.

Source: NCBI Gene 3563 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 140 total
• Druggable target: yes
• MANE Select transcript: NM_002183

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6012
Approved symbol	IL3RA
Name	interleukin 3 receptor subunit alpha
Location	Xp22.33 and Yp11.2
Locus type	gene with protein product
Status	Approved
Aliases	CD123
Ensembl gene	ENSG00000185291
Ensembl biotype	protein_coding
OMIM	308385, 430000
Entrez	3563

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 16 protein_coding

ENST00000331035, ENST00000381469, ENST00000432757, ENST00000903825, ENST00000903826, ENST00000903827, ENST00000903828, ENST00000903829, ENST00000903830, ENST00000964639, ENST00000964640, ENST00000964641, ENST00000964642, ENST00000964643, ENST00000964644, ENST00000964645

RefSeq mRNA: 2 — MANE Select: NM_002183 NM_001267713, NM_002183

CCDS: CCDS14113, CCDS59158

Canonical transcript exons

ENST00000331035 — 12 exons

Exon	Start	End
ENSE00001289795	1348431	1348545
ENSE00001293249	1352322	1352506
ENSE00001318197	1352100	1352232
ENSE00001330589	1345316	1345434
ENSE00001338052	1341728	1341829
ENSE00001593189	1378659	1378764
ENSE00001625087	1381023	1381104
ENSE00001659999	1365138	1365252
ENSE00001673760	1382391	1382689
ENSE00001728827	1358861	1358887
ENSE00002271427	1356221	1356336
ENSE00003893564	1336785	1336926

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 96.39.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	96.39	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.32	gold quality
cerebellar hemisphere	UBERON:0002245	92.82	gold quality
cerebellar cortex	UBERON:0002129	92.58	gold quality
left ovary	UBERON:0002119	90.56	gold quality
upper lobe of left lung	UBERON:0008952	90.05	gold quality
omental fat pad	UBERON:0010414	89.90	gold quality
peritoneum	UBERON:0002358	89.85	gold quality
right ovary	UBERON:0002118	89.70	gold quality
sural nerve	UBERON:0015488	89.65	gold quality
left uterine tube	UBERON:0001303	89.27	gold quality
tibial nerve	UBERON:0001323	89.20	gold quality
cerebellum	UBERON:0002037	89.11	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.01	gold quality
upper lobe of lung	UBERON:0008948	88.89	gold quality
body of uterus	UBERON:0009853	88.89	gold quality
adipose tissue of abdominal region	UBERON:0007808	88.57	gold quality
apex of heart	UBERON:0002098	88.43	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.40	gold quality
lower esophagus	UBERON:0013473	88.35	gold quality
mucosa of stomach	UBERON:0001199	88.30	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	87.95	gold quality
endocervix	UBERON:0000458	87.86	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.72	gold quality
granulocyte	CL:0000094	87.50	gold quality
left lobe of thyroid gland	UBERON:0001120	87.39	gold quality
right lobe of thyroid gland	UBERON:0001119	87.16	gold quality
subcutaneous adipose tissue	UBERON:0002190	87.04	gold quality
lymph node	UBERON:0000029	87.01	gold quality
right lung	UBERON:0002167	86.90	gold quality

Single-cell (SCXA)

Detected in 18 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	1244.43
E-GEOD-75688	yes	838.91
E-CURD-112	yes	445.44
E-HCAD-4	yes	54.90
E-HCAD-11	yes	43.50
E-HCAD-1	yes	21.17
E-MTAB-8142	yes	20.93
E-CURD-122	yes	17.90
E-MTAB-9067	yes	16.10
E-MTAB-6701	yes	15.22
E-MTAB-8498	yes	12.97
E-MTAB-10042	yes	12.90
E-MTAB-9467	yes	12.83
E-CURD-46	yes	8.73
E-MTAB-5061	yes	5.92

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT3

miRNA regulators (miRDB)

9 targeting IL3RA, 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-8485	100.00	77.57	4731
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-34B-3P	98.70	67.40	1171
HSA-MIR-22-5P	97.67	68.92	1355

Literature-anchored findings (GeneRIF, showing 40)

• Elevated expression in acute myelogenous leukemia is associated with enhanced blast proliferation, increased cellularity, and poor prognosis (PMID:12351411)
• Bioinformatic study of IL-3 Ralpha & GM Ralpha subunits found a tripeptide sequence near the conserved proline-rich domain which was a key difference between them. Cross-exchange of equivalent subunits altered function compared to wild-type receptors. (PMID:12384414)
• Analysis of the 5’ promoter of the hIL-3Ra gene. (PMID:12504125)
• IL-3Ralpha mRNA is upregulated by IL-3, IL-5, and GM-CSF in human eosinophils (PMID:12943658)
• IL-3 receptor activation is not essential for BCR-ABL-induced myeloproliferative diseases (PMID:14500898)
• REVIEWS overexpression of the IL-3Ralpha chain as one of the mechanisms contributing to the development of a highly malignant leukemic phenotype and evidence that IL-3Ralpha is a marker of leukemic stem cells (PMID:14671644)
• Therefore, these data provide strong evidence that integrin-dependent STAT5A activation controls IL-3-mediated proliferation. (PMID:15795318)
• role in modulating tumor neovascularization in conjunction with VEGFR (KDR) (PMID:16007196)
• Sequencing of interleukin 3 receptor alpha in an independent case-control cohort revealed both common intronic haplotypes and several novel, rare missense variants associated with schizophrenia. (PMID:17522711)
• variants in the gene coding for its receptor (IL-23R) are strongly associated with Crohn’s disease (PMID:18047539)
• A small but significant contribution of the IL3RA polymorphism to susceptibility to schizophrenia, suggesting that the IL3 pathway may be involved in schizophrenia. (PMID:18547720)
• CD123+ MDCs were an early-stage immature DC subset, with a significant tumor-inhibiting activity partially via involvement of enhanced cytoplasmic TRAIL. (PMID:18555589)
• Data show high expression of CD86 and CD11C, moderate expression of CD1a and CD123, low levels of CD83 on dendritic cells after induction by GM-CSF and IL-4. (PMID:19257981)
• our family-based association study revealed a small but significant contribution of the IL3RA variants to susceptibility to schizophrenia in a Chinese population (Han) (PMID:19281803)
• overexpression of CD123 is an aberrant phenotype present in a subset of precursor-B ALL with hyperdiploid genotype (PMID:19454491)
• Progression of cutaneous squamous cell carcinoma in immunosuppressed patients is associated with reduced CD123+ and FOXP3+ cells in the perineoplastic inflammatory infiltrate. (PMID:19614769)
• the less mature hematogones (dim CD45+) that express CD34 lack CD123 expression, whereas the more mature hematogones (moderate CD45+) lack CD34 but always express CD123. (PMID:19762535)
• assessment of CD123 expression is useful for supporting the diagnosis of classical Hodgkin lymphoma (PMID:20809502)
• CD123 was highly expressed in the bone marrow of the patients with myelodysplastic syndrome, significantly correlated with the proportion of bone marrow blasts, and thus might be the marker of MDS malignant clone. (PMID:20819538)
• Expression of dendritic cell markers CD11c/BDCA-1 and CD123/BDCA-2 in coronary artery disease upon activation in whole blood. (PMID:20888334)
• Over expression of IL-3Ralpha and truncated mutation of hbetac may be involved in proliferation and differentiation block in NB4 cells. (PMID:21176354)
• Interleukin 3 receptor alpha is a cell-surface marker present on leukemia-initiating cells of patients with Fanconi anemia-acute myeloid leukemia, and may be a promising therapeutic target for these patients. (PMID:21330473)
• These findings support the usefulness of CD123 and CD103 to aid in the differential diagnosis of B-cell lymphoproliferative disorders (PMID:21917686)
• High levels of CD34+CD38low/-CD123+ blasts are predictive of an adverse outcome in acute myeloid leukemia (PMID:21933861)
• The pattern of CD123 staining can be a useful feature to distinguish hypertrophic lupus erythematosus, squamous cell carcinoma and hypertrophic actinic keratosis. (PMID:21955314)
• we report that IL3 receptor alpha (IL3Ralpha) and NOTCH play integral roles in the host cell type-specific regulation of PROX1 by Kaposi sarcoma herpes virus (PMID:22719258)
• CD123 expression in acute myeloid leukemia is associated with underlying FLT3 and NPM1 mutations. (PMID:22914610)
• We recommend immunohistochemical analyses for CD123, CD56 and CD4 inblastic plasmacytoid dendritic cell neoplasm patients, particularly in cases where the initial bone marrow study indicates normal morphology. (PMID:23470050)
• CD123 is a useful immunohistochemical marker to facilitate diagnosis of acute graft-versus-host disease in colon. (PMID:23791208)
• Results suggest that CD123 results suggest that CD123 chimeric antigen receptors (CARs) T cells are a promising immunotherapy for the treatment of high-risk acute myeloid leukemia (AML). (PMID:24030378)
• We conclude the hMICL/CD123-based MFC assay is a promising MRD tool in AML. (PMID:24152218)
• In the present study we analyzed the expression of four cell surface antigens relevant to human hematopoiesis-CD90, CD96, CD117, and CD123-in bone marrow from pediatric acute myeloid leukemia patients and normal control subjects. (PMID:24751333)
• Increases in CD34(+)CD38(-)CD123(+) cells may reflect malignant clonal cells with aberrant differentiation, overproliferation, and decreased apoptosis in myelodysplastic syndrome, which were similar to acute myeloid leukemia. (PMID:24846193)
• 87.8% of AMLs express CD33. Additionally, 9.4% of AMLs express CD123 without concomitant CD33 expression. (PMID:24927407)
• High interleukin-3 receptor alpha is associated with blastic plasmacytoid dendritic cell neoplasm. (PMID:25381130)
• CD123+ plasmacytoid dendritic cells contribute to the sarcoidal granulomas associated with injected permanent fillers. (PMID:25406851)
• High CD123 expression is associated with systemic mastocytosis. (PMID:25640886)
• Human BDCA2+CD123+CD56+ dendritic cells (DCs) related to blastic plasmacytoid dendritic cell neoplasm represent a unique myeloid DC subset. (PMID:25779340)
• CD123 positivity represents a marker that can facilitate identification of the early T-cell precursor leukemia subtype, but the lack of sensitivity by immunohistochemistry limits the diagnostic utility. (PMID:25906118)
• Our results suggest that the CD34/CD25/CD123/CD99(+) LAIP is strictly associated with FLT3-ITD-positive cells. (PMID:25957287)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	ghrb	ENSDARG00000007671
danio_rerio	il11ra	ENSDARG00000026736
danio_rerio	lifrb	ENSDARG00000039863
danio_rerio	il2rgb	ENSDARG00000053702
danio_rerio	ghra	ENSDARG00000054771
danio_rerio	il2rga	ENSDARG00000068858
danio_rerio	crlf2	ENSDARG00000090632
danio_rerio	lifra	ENSDARG00000098857
danio_rerio	il6r	ENSDARG00000104474
rattus_norvegicus	Il3ra	ENSRNOG00000001325

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), IL13RA1 (ENSG00000131724), IL6ST (ENSG00000134352), IL11RA (ENSG00000137070), OSMR (ENSG00000145623), IL2RG (ENSG00000147168), IL6R (ENSG00000160712), IL23R (ENSG00000162594), IL31RA (ENSG00000164509), CSF2RA (ENSG00000198223), CRLF2 (ENSG00000205755)

Protein

Protein identifiers

Interleukin-3 receptor subunit alpha — P26951 (reviewed: P26951)

All UniProt accessions (2): P26951, J3JS34

UniProt curated annotations — full annotation on UniProt →

Function. Cell surface receptor for IL3 expressed on hematopoietic progenitor cells, monocytes and B-lymphocytes that controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Ligand stimulation rapidly induces hetrodimerization with IL3RB, phosphorylation and enzyme activity of effector proteins such as JAK2 and PI3K that play a role in signaling cell proliferation and differentiation. Activation of JAK2 leads to STAT5-mediated transcriptional program.

Subunit / interactions. Interacts with IL3. Heterodimer of an alpha and a beta subunit. The beta subunit is common to the IL3, IL5 and GM-CSF receptors.

Subcellular location. Cell membrane.

Post-translational modifications. Ubiquitinated by RNFT2 in response to IL3. Ubiquitination leads ligand-induced degradation by the proteasome. Ubiquitinated by RNF128 via ‘Lys-27’-linked polyubiquitination, facilitating its degradation through the lysosomal pathway.

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.

Miscellaneous. The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.

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

Isoforms (2)

UniProt ID	Names	Canonical?
P26951-1	1, SP1	yes
P26951-2	2, SP2

RefSeq proteins (2): NP_001254642, NP_002174* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003532	Short_hematopoietin_rcpt_2_CS	Conserved_site
IPR013783	Ig-like_fold	Homologous_superfamily
IPR015321	TypeI_recpt_CBD	Domain
IPR036116	FN3_sf	Homologous_superfamily
IPR040907	IL3Ra_N	Domain

Pfam: PF09240, PF18611

UniProt features (57 total): strand 25, turn 7, glycosylation site 6, disulfide bond 5, sequence variant 4, topological domain 2, helix 2, short sequence motif 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
5UWC	X-RAY DIFFRACTION	2.4
5UV8	X-RAY DIFFRACTION	2.7
4JZJ	X-RAY DIFFRACTION	2.8
6NMY	X-RAY DIFFRACTION	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P26951-F1	85.46	0.68

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

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 (5): 52–68, 76–195, 112–122, 151–165, 217–293

Glycosylation sites (6): 109, 212, 218, 46, 64, 80

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-512988	Interleukin-3, Interleukin-5 and GM-CSF signaling
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-912526	Interleukin receptor SHC signaling

MSigDB gene sets: 185 (showing top): REACTOME_INTERLEUKIN_2_FAMILY_SIGNALING, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, MODULE_45, MODULE_64, GOCC_CELL_SURFACE, MODULE_75, MODULE_171, BASSO_HAIRY_CELL_LEUKEMIA_UP, MODULE_259, BYSTROEM_CORRELATED_WITH_IL5_UP, BOQUEST_STEM_CELL_DN, GOCC_PLASMA_MEMBRANE_SIGNALING_RECEPTOR_COMPLEX, MODULE_199, KEGG_JAK_STAT_SIGNALING_PATHWAY

GO Biological Process (4): positive regulation of cell population proliferation (GO:0008284), cytokine-mediated signaling pathway (GO:0019221), interleukin-3-mediated signaling pathway (GO:0038156), cellular response to interleukin-3 (GO:0036016)

GO Molecular Function (4): cytokine receptor activity (GO:0004896), interleukin-3 receptor activity (GO:0004912), cytokine binding (GO:0019955), protein binding (GO:0005515)

GO Cellular Component (4): 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-4 pathways:

Category	Pathways
Signaling by Interleukins	1
MAPK1/MAPK3 signaling	1
Interleukin-2 family signaling	1
Interleukin-3, Interleukin-5 and GM-CSF signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular response to cytokine stimulus	2
cytokine-mediated signaling pathway	2
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cell surface receptor signaling pathway	1
response to interleukin-3	1
transmembrane signaling receptor activity	1
cytokine binding	1
immune receptor activity	1
cytokine receptor activity	1
interleukin-3 binding	1
cellular response to interleukin-3	1
interleukin-3-mediated signaling pathway	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
cellular anatomical structure	1

Protein interactions and networks

STRING

1713 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IL3RA	IL3	P08700	997
IL3RA	CSF2RB	P32927	942
IL3RA	CLEC4C	Q8WTT0	940
IL3RA	CD19	P15391	889
IL3RA	CD4	P01730	874
IL3RA	NCAM1	P13591	872
IL3RA	ITGAX	P20702	870
IL3RA	CD1C	P29017	870
IL3RA	CSF2	P04141	860
IL3RA	NRP1	O14786	841
IL3RA	IL5	P05113	826
IL3RA	GYPA	P02724	819
IL3RA	THBD	P07204	814
IL3RA	CD33	P20138	813
IL3RA	FCGR3B	O75015	788
IL3RA	FCGR3A	P08637	788

IntAct

81 interactions, top by confidence:

A	B	Type	Score
CLDN19	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
BMP10	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
TMEM147	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	SYS1	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	PAQR5	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	TUSC5	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	CLDN19	psi-mi:“MI:0915”(physical association)	0.560
VAMP5	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	EMP3	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	TMEM128	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	GIMAP1	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	SERP1	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	SMAGP	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	TMEM254	psi-mi:“MI:0915”(physical association)	0.560
C2CD2L	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
PRKCA	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
SETDB1	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
KAT5	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
LMO3	IL3RA	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (49): IL3RA (Affinity Capture-Western), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid), IL3RA (Two-hybrid)

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: P15509, P26951, Q00941, P26952

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
IL3	up-regulates	IL3RA	binding
IL3RA	up-regulates	JAK2	binding
IL3RA	up-regulates	STAT5A

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Cell Cycle	5	8.6×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of gene expression	6	13.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1884 predictions. Top by Δscore:

Variant	Effect	Δscore
X:1341825:GGAAG:G	donor_gain	1.0000
X:1341826:GAAGG:G	donor_gain	1.0000
X:1341828:AGG:A	donor_loss	1.0000
X:1341829:GGTA:G	donor_loss	1.0000
X:1341830:G:T	donor_loss	1.0000
X:1341831:T:G	donor_loss	1.0000
X:1348546:G:GG	donor_gain	1.0000
X:1378761:GAAG:G	donor_gain	1.0000
X:1336924:AAGGT:A	donor_loss	0.9900
X:1336927:G:C	donor_loss	0.9900
X:1341726:A:AG	acceptor_gain	0.9900
X:1341727:G:GG	acceptor_gain	0.9900
X:1341727:GCA:G	acceptor_gain	0.9900
X:1341826:GAAG:G	donor_gain	0.9900
X:1341827:A:T	donor_gain	0.9900
X:1341830:G:GG	donor_gain	0.9900
X:1345432:CCGG:C	donor_loss	0.9900
X:1345433:CGGT:C	donor_loss	0.9900
X:1345434:GGTA:G	donor_loss	0.9900
X:1345435:G:GC	donor_loss	0.9900
X:1345436:T:A	donor_loss	0.9900
X:1352233:G:GG	donor_gain	0.9900
X:1356219:A:AG	acceptor_gain	0.9900
X:1356220:G:GG	acceptor_gain	0.9900
X:1356220:GA:G	acceptor_gain	0.9900
X:1356220:GAGAT:G	acceptor_gain	0.9900
X:1358854:GTTGC:G	acceptor_loss	0.9900
X:1358855:TTGCA:T	acceptor_loss	0.9900
X:1358856:TGCAG:T	acceptor_loss	0.9900
X:1358857:GCAGA:G	acceptor_loss	0.9900

AlphaMissense

4994 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
Y:1352173:G:C	W124C	0.999
Y:1352173:G:T	W124C	0.999
Y:1345374:G:C	W41C	0.998
Y:1345374:G:T	W41C	0.998
Y:1356282:G:C	W226C	0.998
Y:1356282:G:T	W226C	0.998
Y:1356280:T:A	W226R	0.994
Y:1356280:T:C	W226R	0.994
Y:1345405:T:A	C52S	0.993
Y:1345406:G:C	C52S	0.993
Y:1348495:T:A	V83D	0.993
Y:1352171:T:A	W124R	0.993
Y:1352171:T:C	W124R	0.993
Y:1352383:T:A	C165S	0.993
Y:1352384:G:C	C165S	0.993
Y:1365233:G:C	W285C	0.993
Y:1365233:G:T	W285C	0.993
Y:1345367:T:C	L39S	0.992
Y:1345372:T:A	W41R	0.992
Y:1345372:T:C	W41R	0.992
Y:1352208:A:G	Y136C	0.992
Y:1348473:T:A	C76S	0.991
Y:1348474:G:C	C76S	0.991
Y:1352165:T:A	C122S	0.991
Y:1352166:G:C	C122S	0.991
Y:1352341:T:A	C151S	0.991
Y:1352342:G:C	C151S	0.991
Y:1352135:T:A	C112S	0.990
Y:1352136:G:C	C112S	0.990
Y:1356292:A:C	S230R	0.988

dbSNP variants (sampled 300 via entrez): RS10624984 (X:1353664 ACC>A,AC,ACCC,ACCCC,ACCCCC,ACCCCCC,ACCCCCCC), RS111066021 (X:1355041 G>A), RS111161737 (X:1359967 A>C,G), RS111161739 (X:1360240 A>C,G), RS111162406 (X:1360015 A>C,G,T), RS111162407 (X:1360054 T>C,G), RS111239280 (X:1353709 A>C,T), RS111261628 (X:1350894 C>A,T), RS111301247 (X:1348152 G>A,C,T), RS111316615 (X:1379897 A>T), RS111331843 (X:1349077 A>G), RS111358764 (X:1361622 A>G,T), RS111361109 (X:1378046 C>A,T), RS111373428 (X:1352914 A>G), RS111425513 (X:1348598 C>G,T)

Disease associations

OMIM: gene MIM:308385, MIM:430000 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST000016_1	Schizophrenia	4.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3712987 (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-3 receptor family

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic Trioxide	affects binding, decreases reaction, decreases expression	2
Panobinostat	affects cotreatment, affects expression, increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	increases expression	1
tacedinaline	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Antimycin A	decreases expression	1
Arbutin	increases expression	1
Benzo(a)pyrene	decreases expression	1
Biological Factors	increases expression	1
Chelating Agents	affects binding, decreases expression	1
Cisplatin	affects cotreatment, affects expression	1
Copper	affects binding, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Mercury	decreases expression	1
Nicotine	decreases expression	1
Rotenone	decreases expression	1
Urethane	increases expression	1
2-Naphthylamine	decreases expression	1
Sodium Selenite	increases expression	1
Cadmium Chloride	decreases expression	1
Particulate Matter	increases expression	1

Cellosaurus cell lines

5 cell lines: 3 cancer cell line, 1 spontaneously immortalized cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B8IG	Abcam HCT 116 IL3RA KO	Cancer cell line	Male
CVCL_B8XE	Abcam MCF-7 IL3RA KO	Cancer cell line	Female
CVCL_B9KQ	Abcam A-549 IL3RA KO	Cancer cell line	Male
CVCL_E6QT	Genomeditech CHO-K1 H_IL3RA(CD123)	Spontaneously immortalized cell line	Female
CVCL_UC03	293T human CD123	Transformed cell line	Female

Clinical trials (associated diseases)

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