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Aliases for CSF2RA Gene

Aliases for CSF2RA Gene

  • Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity (Granulocyte-Macrophage) 2 3
  • GM-CSF-R-Alpha 3 4
  • CD116 Antigen 3 4
  • GMCSFR-Alpha 3 4
  • GMR-Alpha 3 4
  • CDw116 3 4
  • CSF2RY 3 4
  • CSF2R 3 4
  • Granulocyte-Macrophage Colony-Stimulating Factor Receptor Subunit Alpha 3
  • Granulocyte-Macrophage Colony-Stimulating Factor Receptor Alpha Chain 3
  • Colony Stimulating Factor 2 Receptor Alpha Subunit 3
  • GM-CSF Receptor Alpha Subunit 3
  • CSF2RAX 3
  • CSF2RAY 3
  • CSF2RX 3
  • GMCSFR 3
  • CD116 3
  • SMDP4 3
  • GMR 3

External Ids for CSF2RA Gene

Previous HGNC Symbols for CSF2RA Gene

  • CSF2R

Previous GeneCards Identifiers for CSF2RA Gene

  • GC00U990072
  • GC0YU900008
  • GC0YM001355
  • GC0XM001355
  • GC0XP001347

Summaries for CSF2RA Gene

Entrez Gene Summary for CSF2RA Gene

  • The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]

GeneCards Summary for CSF2RA Gene

CSF2RA (Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity (Granulocyte-Macrophage)) is a Protein Coding gene. Diseases associated with CSF2RA include surfactant metabolism dysfunction, pulmonary, 4 and csf2ra-related pulmonary surfactant metabolism dysfunction. Among its related pathways are Pathways in cancer and Akt Signaling. GO annotations related to this gene include receptor activity and cytokine receptor activity. An important paralog of this gene is IL3RA.

UniProtKB/Swiss-Prot for CSF2RA Gene

  • Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells

Gene Wiki entry for CSF2RA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSF2RA Gene

Genomics for CSF2RA Gene

Regulatory Elements for CSF2RA Gene

Transcription factor binding sites by QIAGEN in the CSF2RA gene promoter:

Genomic Location for CSF2RA Gene

Start:
1,264,832 bp from pter
End:
1,322,871 bp from pter
Size:
58,040 bases
Orientation:
Plus strand

Genomic View for CSF2RA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CSF2RA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSF2RA Gene

Proteins for CSF2RA Gene

  • Protein details for CSF2RA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15509-CSF2R_HUMAN
    Recommended name:
    Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
    Protein Accession:
    P15509
    Secondary Accessions:
    • A7J003
    • A8KAM1
    • B4DW68
    • J3JS76
    • J3JS77
    • O00207
    • Q14429
    • Q14430
    • Q14431
    • Q16564

    Protein attributes for CSF2RA Gene

    Size:
    400 amino acids
    Molecular mass:
    46207 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The beta subunit is common to the IL3, IL5 and GM-CSF receptors. The signaling GM-CSF receptor complex is a dodecamer of two head-to-head hexamers of two alpha, two beta, and two ligand subunits.
    Miscellaneous:
    • The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes
    SequenceCaution:
    • Sequence=AAA60962.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CSF2RA Gene

    Alternative splice isoforms for CSF2RA Gene

neXtProt entry for CSF2RA Gene

Proteomics data for CSF2RA Gene at MOPED

Post-translational modifications for CSF2RA Gene

  • Glycosylation at Asn46, Asn54, Asn99, Asn123, Asn135, Asn182, Asn195, Asn223, Asn229, Asn272, and Asn305
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for CSF2RA (GM-CSF R alpha)

Protein Products

No data available for DME Specific Peptides for CSF2RA Gene

Domains for CSF2RA Gene

Gene Families for CSF2RA Gene

HGNC:
  • CD :CD molecules
  • PAR1 :Pseudoautosomal regions / PAR1
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P15509

UniProtKB/Swiss-Prot:

CSF2R_HUMAN :
  • P15509
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
  • Contains 1 fibronectin type-III domain.
Family:
  • Belongs to the type I cytokine receptor family. Type 5 subfamily.
genes like me logo Genes that share domains with CSF2RA: view

Function for CSF2RA Gene

Molecular function for CSF2RA Gene

GENATLAS Biochemistry:
colony-stimulating factor (CSF2) receptor,X-linked (granulocyte macrophage) directly intervening in the activation of JAK2 and STAT5 (JAK/STAT pathway)
UniProtKB/Swiss-Prot Function:
Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells

Gene Ontology (GO) - Molecular Function for CSF2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 1358805
GO:0004896 cytokine receptor activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CSF2RA: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CSF2RA

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CSF2RA Gene

Localization for CSF2RA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSF2RA Gene

Cell membrane; Single-pass type I membrane protein.
Isoform 3: Secreted.
Isoform 4: Secreted.
Isoform 6: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CSF2RA Gene COMPARTMENTS Subcellular localization image for CSF2RA gene
Compartment Confidence
plasma membrane 5
extracellular 4
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CSF2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2555171
GO:0016020 membrane --
genes like me logo Genes that share ontologies with CSF2RA: view

Pathways for CSF2RA Gene

genes like me logo Genes that share pathways with CSF2RA: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Inflammatory Response & Autoimmunity 384HT in human,mouse,rat
    • Interferons & Receptors in human,mouse,rat

Gene Ontology (GO) - Biological Process for CSF2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019221 cytokine-mediated signaling pathway IEA --
GO:0045471 response to ethanol IEA --
genes like me logo Genes that share ontologies with CSF2RA: view

Compounds for CSF2RA Gene

(1) Drugbank Compounds for CSF2RA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Sargramostim
  • Colony-stimulating factor
83869-56-1 target agonist

(1) IUPHAR Ligand for CSF2RA Gene

Ligand Type Action Affinity Pubmed IDs
GM-CSF Agonist Agonist

(4) Novoseek inferred chemical compound relationships for CSF2RA Gene

Compound -log(P) Hits PubMed IDs
gp 130 40.8 2
tyrosine 38.1 4
serine 5.53 1
glucose 0 2
genes like me logo Genes that share compounds with CSF2RA: view

Transcripts for CSF2RA Gene

Unigene Clusters for CSF2RA Gene

Colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CSF2RA

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSF2RA Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ·
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - -
SP10:
SP11:

ExUns: 16c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CSF2RA Gene

GeneLoc Exon Structure for
CSF2RA
ECgene alternative splicing isoforms for
CSF2RA

Expression for CSF2RA Gene

mRNA expression in normal human tissues for CSF2RA Gene

mRNA differential expression in normal tissues according to GTEx for CSF2RA Gene

This gene is overexpressed in Whole Blood (29.6).

Protein differential expression in normal tissues for CSF2RA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.1), Placenta (23.6), and Monocytes (21.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CSF2RA Gene

SOURCE GeneReport for Unigene cluster for CSF2RA Gene Hs.520937

genes like me logo Genes that share expressions with CSF2RA: view

Expression partners for CSF2RA Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CSF2RA Gene

Orthologs for CSF2RA Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSF2RA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC100336606 35
  • 66.76 (n)
  • 55.94 (a)
CSF2RA 36
  • 55 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC609266 35
  • 68.59 (n)
  • 55.53 (a)
CSF2RA 36
  • 52 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Csf2ra 35
  • 48.31 (n)
  • 36.8 (a)
MGI:1339754 16
Csf2ra 36
  • 31 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia CSF2RA 35
  • 98.21 (n)
  • 96.1 (a)
CSF2RA 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csf2ra 35
  • 47.16 (n)
  • 32.94 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 37 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 36 (a)
OneToMany
chicken
(Gallus gallus)
Aves CSF2RA 35
  • 48.39 (n)
  • 35.96 (a)
-- 36
  • 34 (a)
ManyToMany
-- 36
  • 34 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732217 35
  • 45.63 (n)
  • 28.75 (a)
Species with no ortholog for CSF2RA:
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CSF2RA Gene

ENSEMBL:
Gene Tree for CSF2RA (if available)
TreeFam:
Gene Tree for CSF2RA (if available)

Paralogs for CSF2RA Gene

Paralogs for CSF2RA Gene

Selected SIMAP similar genes for CSF2RA Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CSF2RA: view

Variants for CSF2RA Gene

Sequence variations from dbSNP and Humsavar for CSF2RA Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
VAR_058507 Pulmonary surfactant metabolism dysfunction 4 (SMDP4)

Structural Variations from Database of Genomic Variants (DGV) for CSF2RA Gene

Variant ID Type Subtype PubMed ID
esv29996 CNV Loss 17803354
esv21933 CNV Gain+Loss 19812545
esv2739646 CNV Deletion 23290073
esv2356718 CNV Deletion 18987734
dgv1352e201 CNV Deletion 23290073
esv2743274 CNV Deletion 23290073
esv2670322 CNV Deletion 23128226
esv2739653 CNV Deletion 23290073
esv2739654 CNV Deletion 23290073
esv2739655 CNV Deletion 23290073
esv2657055 CNV Deletion 23128226
esv2739656 CNV Deletion 23290073
esv2739657 CNV Deletion 23290073
esv2671552 CNV Deletion 23128226
esv2739658 CNV Deletion 23290073
esv2739659 CNV Deletion 23290073
dgv1353e201 CNV Deletion 23290073
esv2739661 CNV Deletion 23290073
esv2739664 CNV Deletion 23290073
esv2739665 CNV Deletion 23290073
esv2739666 CNV Deletion 23290073
esv2739667 CNV Deletion 23290073
esv2739668 CNV Deletion 23290073

Relevant External Links for CSF2RA Gene

HapMap Linkage Disequilibrium report
CSF2RA
Human Gene Mutation Database (HGMD)
CSF2RA
Locus Specific Mutation Databases (LSDB)
CSF2RA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSF2RA Gene

Disorders for CSF2RA Gene

UniProtKB/Swiss-Prot

CSF2R_HUMAN
  • Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770]: A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. {ECO:0000269 PubMed:18955567, ECO:0000269 PubMed:18955570}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CSF2RA Gene

(7) Novoseek inferred disease relationships for CSF2RA Gene

Disease -log(P) Hits PubMed IDs
leukemia 40.2 5
myeloid leukemia chronic 23.8 1
leukemia lymphocytic chronic 10.8 1
cancer 3.13 1
necrosis 0 2

Relevant External Links for CSF2RA

Genetic Association Database (GAD)
CSF2RA
Human Genome Epidemiology (HuGE) Navigator
CSF2RA
genes like me logo Genes that share disorders with CSF2RA: view

No data available for OMIM and Genatlas for CSF2RA Gene

Publications for CSF2RA Gene

  1. A functional isoform of the human granulocyte/macrophage colony- stimulating factor receptor has an unusual cytoplasmic domain. (PMID: 1715577) Crosier K.E. … Sieff C.A. (Proc. Natl. Acad. Sci. U.S.A. 1991) 3 4 23
  2. Identification and molecular cloning of a soluble human granulocyte- macrophage colony-stimulating factor receptor. (PMID: 1832774) Raines M.A. … Golde D.W. (Proc. Natl. Acad. Sci. U.S.A. 1991) 3 4 23
  3. Discovery and characterization of a novel splice variant of the GM- CSF receptor alpha subunit. (PMID: 17681666) Pelley J.L. … Brown C.B. (Exp. Hematol. 2007) 3 4 23
  4. A family-based study of the IL3RA gene on susceptibility to schizophrenia in a Chinese Han population. (PMID: 19281803) Sun S. … Zhang X.Y. (Brain Res. 2009) 3 23 48
  5. Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. (PMID: 17522711) Lencz T. … Malhotra A.K. (Mol. Psychiatry 2007) 3 25 48

Products for CSF2RA Gene

Sources for CSF2RA Gene

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