IL3RA (interleukin 3 receptor subunit alpha)

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Gene Gene information from NCBI Gene database.
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Entrez ID 3563
Gene name Interleukin 3 receptor subunit alpha
Gene symbol IL3RA
Synonyms (NCBI Gene)
CD123IL-3R-alphaIL3RIL3RAYIL3RXIL3RYhIL-3Ra
Chromosome X|Y
Chromosome location X;Y
Summary 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),
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT2247754 hsa-miR-338-3p CLIP-seq
MIRT2247755 hsa-miR-4530 CLIP-seq
MIRT2247756 hsa-miR-4676-5p CLIP-seq
MIRT2247757 hsa-miR-575 CLIP-seq
MIRT2247758 hsa-miR-622 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0004896 Function Cytokine receptor activity IBA
GO:0004896 Function Cytokine receptor activity IEA
GO:0004912 Function Interleukin-3 receptor activity IDA 29374162
GO:0004912 Function Interleukin-3 receptor activity IEA
GO:0004912 Function Interleukin-3 receptor activity TAS 1833064
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
308385 N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26951
Protein name Interleukin-3 receptor subunit alpha (IL-3 receptor subunit alpha) (IL-3R subunit alpha) (IL-3R-alpha) (IL-3RA) (CD antigen CD123)
Protein 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 (PubMed:10527461). Ligand sti
PDB 4JZJ , 5UV8 , 5UWC , 6NMY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09240 IL6Ra-bind 109 → 205 Interleukin-6 receptor alpha chain, binding Domain
PF18611 IL3Ra_N 27 → 97 IL-3 receptor alpha chain N-terminal domain Domain
Sequence 
MVLLWLTLLLIALPCLLQTKEDPNPPITNLRMKAKAQQLTWDLNRNVTDIECVKDADYSM
PAVNNSYCQFGAISLCEVTNYTVRVANPPFSTWILFPENSGKPWAGAENLTCWIHDVDFL
SCSWAVGPGAPADVQYDLYLNVANRRQQYECLHYKTDAQGTRIGCRFDDISRLSSGSQSS
HILVRGRSAAFGIPCTDKFVVFSQIEILTPPNMTAKCNKTHSFMHWKMRSHFNRKFRYEL
QIQKRMQPVITEQVRDRTSFQLLNPGTYTVQIRARERVYEFLSAWSTPQRFECDQEEGAN
TRAWRTSLLIALGTLLALVCVFVICRRYLVMQRLFPRIPHMKDPIGDSFQNDKLVVWEAG
KAGLEECLVTEVQVVQKT
Sequence length 378
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Cytokine-cytokine receptor interaction Interleukin-3, Interleukin-5 and GM-CSF signaling
PI3K-Akt signaling pathway RAF/MAP kinase cascade
Apoptosis Interleukin receptor SHC signaling
JAK-STAT signaling pathway  
Hematopoietic cell lineage  
Pathways in cancer  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
SCHIZOPHRENIA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (98)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19454491, 19762535, 27323395, 27521317, 27548616, 29498923, 30113764, 30361418
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 22258035, 24927407, 28574487
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia, minimal differentiation Myeloid Leukemia BEFREE 31000771
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 27323395, 27521317, 29498923
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 28576927, 31547472
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Infectious Infective arthritis Pubtator 32849606 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Juvenile Juvenile arthritis Pubtator 32849606 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 15743469 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 26474588 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 20809502
★★★★★
★☆☆☆☆
Found in Text Mining only
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IL5RA 6 shared pathwaysCytokine-cytokine receptor interaction, JAK-STAT signaling pathway, Hematopoietic cell lineage, RAF/MAP kinase cascade, Interleukin-3, Interleukin-5 and GM-CSF signaling, Interleukin receptor SHC signaling Related via 6 shared pathways including Cytokine-cytokine receptor interaction, JAK-STAT signaling pathway. CSF2RA 6 shared pathwaysCytokine-cytokine receptor interaction, JAK-STAT signaling pathway, Hematopoietic cell lineage, RAF/MAP kinase cascade, Interleukin-3, Interleukin-5 and GM-CSF signaling, Interleukin receptor SHC signaling Related via 6 shared pathways including Cytokine-cytokine receptor interaction, JAK-STAT signaling pathway. CSF2RB 6 shared pathwaysCytokine-cytokine receptor interaction, Apoptosis, JAK-STAT signaling pathway, RAF/MAP kinase cascade, Interleukin-3, Interleukin-5 and GM-CSF signaling, Interleukin receptor SHC signaling Related via 6 shared pathways including Cytokine-cytokine receptor interaction, Apoptosis. IL3 7 shared pathwaysCytokine-cytokine receptor interaction, Apoptosis, JAK-STAT signaling pathway, Hematopoietic cell lineage, RAF/MAP kinase cascade, Interleukin-3, Interleukin-5 and GM-CSF signaling, Interleukin receptor SHC signaling Related via 7 shared pathways including Cytokine-cytokine receptor interaction, Apoptosis. CSF3R 3 shared pathwaysCytokine-cytokine receptor interaction, JAK-STAT signaling pathway, Hematopoietic cell lineage Related via 3 shared pathways including Cytokine-cytokine receptor interaction, JAK-STAT signaling pathway.
Asthma Linked via 3 of 5 related genesIL5RA, CSF2RB, IL3 Pulmonary alveolar proteinosis Linked via 2 of 5 related genesCSF2RA, CSF2RB Pulmonary surfactant metabolism dysfunction Linked via 2 of 5 related genesCSF2RA, CSF2RB Crohn disease Linked via 2 of 5 related genesCSF2RB, IL3 Inflammatory bowel disease Linked via 2 of 5 related genesCSF2RB, IL3