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CSF2RA Gene(Protein Coding)

Colony Stimulating Factor 2 Receptor Alpha Subunit

GCID:
GC0XP001264
GIFtS:
56
Genes Participants
UDN Logo

Aliases for CSF2RA Gene

Aliases for CSF2RA Gene

  • Colony Stimulating Factor 2 Receptor Alpha Subunit 2 3 5
  • Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity (Granulocyte-Macrophage) 2 3
  • Alpha-GM-CSF Receptor 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
  • GM-CSF Receptor Alpha Subunit 3
  • AlphaGMR 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 Subunit) is a Protein Coding gene. Diseases associated with CSF2RA include Surfactant Metabolism Dysfunction, Pulmonary, 4 and Hereditary Pulmonary Alveolar Proteinosis. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. Gene Ontology (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

Additional gene information for CSF2RA Gene

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

Genomics for CSF2RA Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CSF2RA Gene

Promoters and enhancers for CSF2RA 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
GH0XI001268 Promoter 1.4 EPDnew Ensembl 550.8 +0.2 201 0.4 MXI1 MAZ USF2 MAX CEBPB SMARCB1 RFX5 POLR2A NFYB RCOR1 CSF2RA MIR3690
GH0XI001247 Enhancer 1.1 FANTOM5 Ensembl 38.7 -19.6 -19616 2.4 MXI1 CLOCK USF1 TEAD4 MAX SIN3A ETS1 ZNF121 ZNF366 POLR2A CSF2RA IL3RA ASMTL AKAP17A CRLF2 ASMT P2RY8 SLC25A6
GH0XI001316 Enhancer 0.8 FANTOM5 Ensembl 32.2 +47.9 47901 1 CTCF POLR2A ZNF366 ZBTB17 CSF2RA IL3RA ASMTL AKAP17A ASMT SLC25A6 P2RY8 CRLF2 GC0XM001318 RNA5SP498
GH0XI001500 Enhancer 1.4 FANTOM5 Ensembl dbSUPER 14.6 +234.3 234301 5 HDGF PKNOX1 ATF1 SMAD1 IRF4 ZNF121 ZNF766 ZNF207 ATF7 RUNX3 P2RY8 AKAP17A CSF2RA IL3RA ASMTL ASMT CRLF2 SLC25A6
GH0XI001239 Enhancer 1 FANTOM5 Ensembl 17.6 -28.9 -28899 1 BACH1 EBF1 BATF IRF4 POLR3A NFATC1 ATF7 BCLAF1 IKZF2 CREM CSF2RA IL3RA ASMTL AKAP17A CRLF2 ASMT SLC25A6 P2RY8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CSF2RA on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for CSF2RA Gene

Genomic Locations for CSF2RA Gene
chrX:1,268,800-1,325,078
(GRCh38/hg38)
Size:
56,279 bases
Orientation:
Plus strand
chrX:1,387,693-1,429,274
(GRCh37/hg19)

Genomic View for CSF2RA Gene

Genes around CSF2RA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSF2RA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSF2RA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CSF2RA Gene

Proteins for CSF2RA Gene

Products:

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  2. Protein
  3. Assay

  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for CSF2RA Gene

Protein Expression for CSF2RA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CSF2RA Gene

  • Glycosylation at Asn46, posLast=5454, posLast=9999, posLast=123123, Asn135, Asn182, Asn195, Asn223, posLast=229229, posLast=272272, and posLast=305305

Other Protein References for CSF2RA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CSF2RA Gene

Domains & Families for CSF2RA Gene

Gene Families for CSF2RA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for CSF2RA Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CSF2RA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15509

UniProtKB/Swiss-Prot:

CSF2R_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 CSF2RA: view

Function for CSF2RA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:0004713 protein tyrosine kinase activity TAS --
GO:0004872 receptor activity TAS 1358805
GO:0004896 cytokine receptor activity IEA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CSF2RA: view
genes like me logo Genes that share phenotypes with CSF2RA: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
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 CSF2RA gene
Compartment Confidence
plasma membrane 5
extracellular 4
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CSF2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2555171
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CSF2RA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CSF2RA Gene

Pathways & Interactions for CSF2RA Gene

SuperPathways for CSF2RA Gene

PathCards logo More details on SuperPathways for CSF2RA
SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
NCAM signaling for neurite out-growth
.89
DAP12 interactions
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.56
2 Akt Signaling
Akt Signaling
.60
p38 Signaling
.60
Tec Kinases Signaling
.55
3 G beta-gamma signalling through PI3Kgamma
G beta-gamma signalling through PI3Kgamma
.94
G-protein beta-gamma signalling
.94
GPVI-mediated activation cascade
.44
4 Signaling by GPCR
GPCR downstream signaling
.76
Signaling by GPCR
.76
Signal Transduction
.52
5 PEDF Induced Signaling
STAT3 Pathway
.47
Cytokine-cytokine receptor interaction
.42
genes like me logo Genes that share pathways with CSF2RA: view

SIGNOR curated interactions for CSF2RA Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CSF2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
GO:0019221 cytokine-mediated signaling pathway IEA --
GO:0044267 cellular protein metabolic process TAS --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with CSF2RA: view

Drugs & Compounds for CSF2RA Gene

Products:

  1. Drug

(12) Drugs for CSF2RA Gene - From: DrugBank, DGIdb, FDA Approved Drugs, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sargramostim Approved, Investigational Pharma Target, agonist, binder 0
Leukine Approved on November 24, 1995/ Approved November 1996 Pharma 0
KB002 Investigational Pharma Target, Target 0
recombinant human GM-CSF Investigational Pharma Target, Target 0
CG0070 Investigational Pharma 0

(1) Additional Compounds for CSF2RA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CSF2RA: view

Transcripts for CSF2RA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CSF2RA Gene

(32) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(77) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CSF2RA Gene

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

Clone 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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSF2RA Gene

mRNA expression in normal human tissues for CSF2RA Gene
mRNA expression by GTEx for CSF2RA GenemRNA expression by BioGPS for CSF2RA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x29.6).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CSF2RA Gene



Protein tissue co-expression partners for CSF2RA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CSF2RA Gene:

CSF2RA

SOURCE GeneReport for Unigene cluster for CSF2RA Gene:

Hs.520937

Evidence on tissue expression from TISSUES for CSF2RA Gene

  • Blood(4.5)
  • Bone marrow(2.4)
  • Spleen(2.4)
  • Lymph node(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CSF2RA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • respiratory
Organs:
Thorax:
  • diaphragm
  • lung
  • thymus
Abdomen:
  • liver
  • spleen
General:
  • blood
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with CSF2RA: view

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
chimpanzee
(Pan troglodytes)
 Mammalia CSF2RA 33 34
  • 98.21 (n)
dog
(Canis familiaris)
 Mammalia LOC609266 33
  • 68.59 (n)
CSF2RA 34
  • 52 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia LOC100336606 33
  • 66.76 (n)
CSF2RA 34
  • 55 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Csf2ra 33 16 34
  • 48.31 (n)
rat
(Rattus norvegicus)
 Mammalia Csf2ra 33
  • 47.16 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 37 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 36 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves CSF2RA 33
  • 48.39 (n)
-- 34
  • 34 (a)
 ManyToMany
-- 34
  • 34 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC101732217 33
  • 45.63 (n)
Species where no ortholog for CSF2RA 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)
  • 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

(1) 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 Variation AA Info Type
rs137852353 pathogenic, Surfactant metabolism dysfunction, pulmonary, 4, Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770] 1,290,449(+) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs138964358 likely-benign, benign, not specified, Surfactant metabolism dysfunction, pulmonary, 4 1,290,354(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs140581875 likely-benign, not specified, Surfactant metabolism dysfunction, pulmonary, 4 1,288,578(+) A/G/T 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs149059494 benign, Surfactant metabolism dysfunction, pulmonary, 4 1,288,522(+) A/G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs151058706 benign, not specified, Surfactant metabolism dysfunction, pulmonary, 4 1,288,840(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1294e201 CNV deletion 23290073
dgv1295e201 CNV deletion 23290073
dgv4560e59 CNV duplication 20981092
dgv4561e59 CNV duplication 20981092
esv21933 CNV gain+loss 19812545
esv2356718 CNV deletion 18987734
esv2657055 CNV deletion 23128226
esv2670322 CNV deletion 23128226
esv2671552 CNV deletion 23128226
esv2739646 CNV deletion 23290073
esv2739653 CNV deletion 23290073
esv2739654 CNV deletion 23290073
esv2739655 CNV deletion 23290073
esv2739656 CNV deletion 23290073
esv2739657 CNV deletion 23290073
esv2739658 CNV deletion 23290073
esv2739659 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
esv2743274 CNV deletion 23290073
esv29996 CNV loss 17803354
esv3405532 CNV duplication 20981092
esv3558472 CNV deletion 23714750
esv3558474 CNV deletion 23714750
esv3558475 CNV deletion 23714750
nsv1077571 CNV duplication 25765185
nsv1078698 CNV duplication 25765185
nsv1115919 CNV duplication 24896259
nsv1119378 CNV duplication 24896259
nsv1141657 CNV duplication 24896259
nsv1146849 CNV duplication 26484159
nsv1153650 CNV duplication 26484159

Variation tolerance for CSF2RA Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.64; 72.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSF2RA Gene

Human Gene Mutation Database (HGMD)
CSF2RA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSF2RA

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

Disorders for CSF2RA Gene

MalaCards: The human disease database

(6) MalaCards diseases for CSF2RA Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
surfactant metabolism dysfunction, pulmonary, 4
  • smdp4
hereditary pulmonary alveolar proteinosis
  • congenital pulmonary alveolar proteinosis
acute basophilic leukemia
pulmonary alveolar proteinosis
crest syndrome
  • calcinosis - raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for CSF2RA

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 CSF2RA: view

No data available for Genatlas for CSF2RA Gene

Publications for CSF2RA 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 22 44 58
  2. Discovery and characterization of a novel splice variant of the GM-CSF receptor alpha subunit. (PMID: 17681666) Pelley JL … Brown CB (Experimental hematology 2007) 3 4 22 58
  3. A functional isoform of the human granulocyte/macrophage colony-stimulating factor receptor has an unusual cytoplasmic domain. (PMID: 1715577) Crosier KE … Sieff CA (Proceedings of the National Academy of Sciences of the United States of America 1991) 3 4 22 58
  4. Identification and molecular cloning of a soluble human granulocyte-macrophage colony-stimulating factor receptor. (PMID: 1832774) Raines MA … Golde DW (Proceedings of the National Academy of Sciences of the United States of America 1991) 3 4 22 58
  5. The Ig-like domain of human GM-CSF receptor alpha plays a critical role in cytokine binding and receptor activation. (PMID: 20078425) Mirza S … Young IG (The Biochemical journal 2010) 3 22 58

Products for CSF2RA Gene

Sources for CSF2RA Gene

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