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 s... See more...

Aliases for IL3RA Gene

Aliases for IL3RA Gene

  • Interleukin 3 Receptor Subunit Alpha 2 3 5
  • Interleukin 3 Receptor, Alpha (Low Affinity) 2 3
  • Interleukin-3 Receptor Subunit Alpha 3 4
  • IL-3 Receptor Subunit Alpha 3 4
  • IL-3R Subunit Alpha 3 4
  • CD123 Antigen 3 4
  • IL-3R-Alpha 3 4
  • IL-3RA 3 4
  • IL3R 3 4
  • IL-3 Receptor Alpha SP2 Isoform 3
  • HIL-3Ra 3
  • IL3RAY 3
  • CD123 3
  • IL3RX 3
  • IL3RY 3

External Ids for IL3RA Gene

Previous GeneCards Identifiers for IL3RA Gene

  • GC00U990171
  • GC0YU900011
  • GC0XP9H0000
  • GC0YP001499
  • GC0XP001499
  • GC0XP001415
  • GC0XP001455

Summaries for IL3RA Gene

Entrez Gene Summary for IL3RA Gene

  • 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. [provided by RefSeq, Jun 2012]

GeneCards Summary for IL3RA Gene

IL3RA (Interleukin 3 Receptor Subunit Alpha) is a Protein Coding gene. Diseases associated with IL3RA include Hairy Cell Leukemia and Diphtheria. Among its related pathways are Signaling by GPCR and RET signaling. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity and interleukin-3 receptor activity. An important paralog of this gene is CSF2RA.

UniProtKB/Swiss-Prot Summary for IL3RA Gene

Gene Wiki entry for IL3RA Gene

Additional gene information for IL3RA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL3RA Gene

Genomics for IL3RA Gene

GeneHancer (GH) Regulatory Elements for IL3RA Gene

Promoters and enhancers for IL3RA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ001336 Promoter 1.1 EPDnew Ensembl 500.7 +0.7 713 2.2 MEF2C POLR2A ZNF384 SRF CEBPB MEF2B ASH2L EBF1 IKZF1 TBP IL3RA RF00017-8100 LOC101928055 RF00017-8094 RF00017-8086 RF00017-8097
GH0XJ001335 Promoter 0.3 Ensembl 500.7 -0.9 -886 0.2 IL3RA piR-61101-683 RF00017-8094 RF00017-8086 RF00017-8097
GH0XJ001391 Promoter 1.9 EPDnew Ensembl CraniofacialAtlas 20.2 +55.6 55614 4.4 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A TCF12 NRF1 POLR2G USF1 LINC00106 LOC105373102 SLC25A6 AKAP17A IL3RA ASMTL RF00017-8086 RF00017-8094 RF00017-8097
GH0XJ001249 Promoter/Enhancer 1.3 EPDnew FANTOM5 CraniofacialAtlas 13.6 -86.9 -86914 0.5 MYC USF1 REST CLOCK SAP30 EP300 POLR2A OSR2 NR2F2 GABPA CSF2RA IL3RA ASMTL AKAP17A P2RY8 ASMT CRLF2 SLC25A6 RF00017-8095 piR-32287-191
GH0XJ001247 Promoter/Enhancer 1 FANTOM5 CraniofacialAtlas 14.8 -88.0 -87959 0.5 TEAD4 NANOG CHD2 TCF7L2 SIN3A CHD1 TAF1 CHD7 EP300 TAF7 CSF2RA IL3RA ASMTL AKAP17A CRLF2 ASMT SLC25A6 P2RY8 RF00017-8095 piR-32287-191
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL3RA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IL3RA

Top Transcription factor binding sites by QIAGEN in the IL3RA gene promoter:
  • STAT5A

Genomic Locations for IL3RA Gene

Genomic Locations for IL3RA Gene
chrX:1,336,587-1,382,689
(GRCh38/hg38)
Size:
46,103 bases
Orientation:
Plus strand
chrX:1,455,509-1,501,582
(GRCh37/hg19)
Size:
46,074 bases
Orientation:
Plus strand

Genomic View for IL3RA Gene

Genes around IL3RA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL3RA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL3RA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL3RA Gene

Proteins for IL3RA Gene

  • Protein details for IL3RA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26951-IL3RA_HUMAN
    Recommended name:
    Interleukin-3 receptor subunit alpha
    Protein Accession:
    P26951
    Secondary Accessions:
    • A8K3F3
    • B9VI81
    • Q5HYQ7
    • Q5HYQ8
    • Q9UEH7

    Protein attributes for IL3RA Gene

    Size:
    378 amino acids
    Molecular mass:
    43330 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The beta subunit is common to the IL3, IL5 and GM-CSF receptors.
    Miscellaneous:
    • The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
    SequenceCaution:
    • Sequence=BAA08393.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IL3RA Gene

    Alternative splice isoforms for IL3RA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL3RA Gene

Post-translational modifications for IL3RA Gene

  • Glycosylation at Asn109, Asn46, Asn64, Asn80, Asn212, and Asn218
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for IL3RA

No data available for DME Specific Peptides for IL3RA Gene

Domains & Families for IL3RA Gene

Gene Families for IL3RA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for IL3RA Gene

Blocks:
  • Short hematopoietin receptor, family 2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IL3RA Gene

GenScript: Design optimal peptide antigens:
  • Interleukin-3 receptor subunit alpha (IL3RA_HUMAN)
  • Interleukin 3 receptor, alpha (Low affinity) (Q5HYQ8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P26951

UniProtKB/Swiss-Prot:

IL3RA_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 5 subfamily.
Domain:
  • 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.
Family:
  • Belongs to the type I cytokine receptor family. Type 5 subfamily.
genes like me logo Genes that share domains with IL3RA: view

Function for IL3RA Gene

Molecular function for IL3RA Gene

UniProtKB/Swiss-Prot Function:
This is a receptor for interleukin-3.

Phenotypes From GWAS Catalog for IL3RA Gene

Gene Ontology (GO) - Molecular Function for IL3RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IBA 21873635
GO:0004912 interleukin-3 receptor activity TAS 1833064
GO:0005515 protein binding IEA --
GO:0019955 cytokine binding IBA 21873635
genes like me logo Genes that share ontologies with IL3RA: view
genes like me logo Genes that share phenotypes with IL3RA: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IL3RA Gene

Localization for IL3RA Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL3RA Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL3RA gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for IL3RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IBA 21873635
genes like me logo Genes that share ontologies with IL3RA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL3RA Gene

Pathways & Interactions for IL3RA Gene

PathCards logo

SuperPathways for IL3RA Gene

SuperPathway Contained pathways
1 RET signaling
2 PEDF Induced Signaling
.51
.47
.43
3 TGF-Beta Pathway
.60
.60
.57
.51
4 Akt Signaling
.60
.60
.55
5 G beta-gamma signalling through PI3Kgamma
genes like me logo Genes that share pathways with IL3RA: view

Pathways by source for IL3RA Gene

1 GeneGo (Thomson Reuters) pathway for IL3RA Gene
  • Immune response IL-3 activation and signaling pathway
15 Qiagen pathways for IL3RA Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Glucocorticoid Receptor Signaling
  • IL-3 Pathway
  • JAK-STAT Pathway

SIGNOR curated interactions for IL3RA Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for IL3RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0036016 cellular response to interleukin-3 IEA --
GO:0038156 interleukin-3-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with IL3RA: view

Drugs & Compounds for IL3RA Gene

(8) Drugs for IL3RA Gene - From: DrugBank, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sargramostim Approved, Investigational Pharma Target, agonist 1078
Tagraxofusp Approved, Investigational Pharma Target, binder 0
IL-3 Pharma Agonist 0
CSL 360 Pharma 0

(5) Additional Compounds for IL3RA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL3RA: view

Transcripts for IL3RA Gene

mRNA/cDNA for IL3RA Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL3RA Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1:
SP2:
SP3: - -

Relevant External Links for IL3RA Gene

GeneLoc Exon Structure for
IL3RA

Expression for IL3RA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IL3RA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IL3RA Gene

This gene is overexpressed in Gallbladder (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IL3RA Gene



Protein tissue co-expression partners for IL3RA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IL3RA

SOURCE GeneReport for Unigene cluster for IL3RA Gene:

Hs.632790

Evidence on tissue expression from TISSUES for IL3RA Gene

  • Lung(4.3)
  • Nervous system(4.2)
  • Spleen(3.6)
  • Blood(3.4)
  • Lymph node(3.4)
  • Bone marrow(2.7)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL3RA Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
Regions:
Thorax:
  • thymus
Abdomen:
  • liver
  • spleen
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with IL3RA: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IL3RA Gene

Orthologs for IL3RA Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL3RA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL3RA 30
  • 84.22 (n)
dog
(Canis familiaris)
Mammalia IL3RA 31 30
  • 63.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IL3RA 30
  • 58.95 (n)
mouse
(Mus musculus)
Mammalia Il3ra 17 31 30
  • 48.29 (n)
rat
(Rattus norvegicus)
Mammalia Il3ra 30
  • 47.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 26 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 23 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 23 (a)
ManyToMany
-- 31
  • 21 (a)
ManyToMany
Species where no ortholog for IL3RA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IL3RA Gene

ENSEMBL:
Gene Tree for IL3RA (if available)
TreeFam:
Gene Tree for IL3RA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL3RA: view image

Paralogs for IL3RA Gene

(1) SIMAP similar genes for IL3RA Gene using alignment to 3 proteins:

  • IL3RA_HUMAN
  • J3JS34_HUMAN
  • Q5HYQ8_HUMAN
genes like me logo Genes that share paralogs with IL3RA: view

Variants for IL3RA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IL3RA Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
730638 Benign: not provided 1,382,426(+) G/A SYNONYMOUS_VARIANT
734034 Benign: not provided 1,352,209(+) C/T SYNONYMOUS_VARIANT
747176 Likely Benign: not provided 1,348,504(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
770823 Likely Benign: not provided 1,352,169(+) G/C MISSENSE_VARIANT
rs17883366 - p.Val323Leu

Additional dbSNP identifiers (rs#s) for IL3RA Gene

Structural Variations from Database of Genomic Variants (DGV) for IL3RA Gene

Variant ID Type Subtype PubMed ID
dgv1299e201 CNV deletion 23290073
dgv1300e201 CNV deletion 23290073
esv2166277 CNV deletion 18987734
esv21933 CNV gain+loss 19812545
esv2656955 CNV deletion 23128226
esv2661406 CNV deletion 23128226
esv2663551 CNV deletion 23128226
esv2666429 CNV deletion 23128226
esv2670115 CNV deletion 23128226
esv2673745 CNV deletion 23128226
esv2739678 CNV deletion 23290073
esv2739679 CNV deletion 23290073
esv2739680 CNV deletion 23290073
esv2739681 CNV deletion 23290073
esv2739682 CNV deletion 23290073
esv2739683 CNV deletion 23290073
esv2739685 CNV deletion 23290073
esv2739693 CNV deletion 23290073
esv2739694 CNV deletion 23290073
esv2739697 CNV deletion 23290073
esv29996 CNV loss 17803354
esv3558480 CNV deletion 23714750
esv3558481 CNV deletion 23714750
esv3558482 CNV deletion 23714750
esv3558483 CNV deletion 23714750
nsv1076238 CNV deletion 25765185
nsv1076292 CNV deletion 25765185
nsv1077212 CNV deletion 25765185
nsv1110637 CNV duplication 24896259
nsv1115919 CNV duplication 24896259
nsv1115920 CNV duplication 24896259
nsv1137684 CNV deletion 24896259
nsv1144310 CNV deletion 24896259
nsv1145298 CNV deletion 24896259
nsv1153650 CNV duplication 26484159
nsv820760 CNV deletion 20802225

Variation tolerance for IL3RA Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL3RA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL3RA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL3RA Gene

Disorders for IL3RA Gene

MalaCards: The human disease database

(18) MalaCards diseases for IL3RA Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hairy cell leukemia
  • hcl-v
diphtheria
  • corynebacterium infection
blastic plasmacytoid dendritic cell
  • blastic nk-cell lymphoma
hereditary pulmonary alveolar proteinosis
  • congenital pulmonary alveolar proteinosis
pollen allergy
  • hay fever
- elite association - COSMIC cancer census association via MalaCards
Search IL3RA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IL3RA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IL3RA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IL3RA Gene

Publications for IL3RA Gene

  1. A family-based study of the IL3RA gene on susceptibility to schizophrenia in a Chinese Han population. (PMID: 19281803) Sun S … Zhang XY (Brain research 2009) 3 23 41 54
  2. A new isoform of interleukin-3 receptor {alpha} with novel differentiation activity and high affinity binding mode. (PMID: 19109256) Chen J … Young IG (The Journal of biological chemistry 2009) 3 4 23 54
  3. Association between interleukin-3 receptor alpha polymorphism and schizophrenia in the Chinese population. (PMID: 18547720) Sun S … Zhang XY (Neuroscience letters 2008) 3 23 41 54
  4. Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. (PMID: 17522711) Lencz T … Malhotra AK (Molecular psychiatry 2007) 3 23 41 54
  5. Structure of the gene encoding the alpha subunit of the human interleukin 3 receptor. (PMID: 7887951) Kosugi H … Yokota T (Biochemical and biophysical research communications 1995) 3 4 23 54

Products for IL3RA Gene

Sources for IL3RA Gene