IL3RA (interleukin 3 receptor subunit alpha)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
13
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
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.
18
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
308385 N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
PF18611 IL3Ra_N 27 → 97 IL-3 receptor alpha chain N-terminal domain Domain
PF09240 IL6Ra-bind 109 → 205 Interleukin-6 receptor alpha chain, binding 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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
PI3K-Akt signaling pathway
Apoptosis
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer 		  Interleukin-3, Interleukin-5 and GM-CSF signaling
RAF/MAP kinase cascade
Interleukin receptor SHC signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (1)
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 Evidence Score
SCHIZOPHRENIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (98)
Associations from Text Mining Disease associations identified through text mining
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