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. Multip... See more...

Aliases for CSF2RA Gene

Aliases for CSF2RA Gene

  • Colony Stimulating Factor 2 Receptor Subunit Alpha 2 3
  • Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity (Granulocyte-Macrophage) 2 3
  • Granulocyte-Macrophage Colony-Stimulating Factor Receptor Subunit Alpha 3 4
  • Colony Stimulating Factor 2 Receptor Alpha Subunit 3 5
  • 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 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 Subunit Alpha) 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 Signaling by GPCR and RET signaling. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity. An important paralog of this gene is IL3RA.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CSF2RA Gene

Genomics for CSF2RA Gene

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
GH0XJ001249 Promoter/Enhancer 1.3 EPDnew FANTOM5 CraniofacialAtlas 538.7 -19.1 -19127 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
GH0XJ001268 Promoter 1.2 EPDnew Ensembl 500.7 +0.8 801 2.4 EP300 CEBPB CHD2 SPI1 RCOR1 E2F6 FOXP1 SMARCB1 MAX MAZ CSF2RA RF00017-8096 lnc-IL3RA-3 RF00017-8092 RF00017-8094 RF00017-8086
GH0XJ001247 Promoter/Enhancer 1 FANTOM5 CraniofacialAtlas 30.2 -20.2 -20172 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
GH0XJ001500 Enhancer 1.3 FANTOM5 Ensembl dbSUPER 14.6 +236.7 236700 9.8 ZBTB40 SP1 EP300 AFF1 TARDBP RFX1 RELA MEF2C MYC CTBP1 RF00017-8104 P2RY8 AKAP17A CSF2RA IL3RA ASMTL ASMT CRLF2 SLC25A6 RF00017-8086
GH0XJ001222 Enhancer 0.9 FANTOM5 Ensembl 17 -45.9 -45900 1.8 TCF12 EP300 ESRRA FOSL2 CEBPB CHD2 JUN RCOR1 FOSL1 JUND CSF2RA IL3RA ASMTL AKAP17A ASMT P2RY8 SLC25A6 CRLF2 hsa-miR-5096-169 RF00017-8092
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSF2RA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CSF2RA

Top Transcription factor binding sites by QIAGEN in the CSF2RA gene promoter:
  • c-Myc
  • Max1

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)
Size:
41,582 bases
Orientation:
Plus strand

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 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

Post-translational modifications for CSF2RA Gene

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

Antibody Products

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

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

Suggested Antigen Peptide Sequences for CSF2RA Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60179, highly similar to Granulocyte-macrophage colony-stimulating factor receptor alpha chain (B4DW68_HUMAN)
  • CDw116 (CSF2R_HUMAN)
  • GM-CSF receptor alpha subunit (Q16498_HUMAN)

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

Molecular function for CSF2RA Gene

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.
GENATLAS Biochemistry:
colony-stimulating factor (CSF2) receptor,X-linked (granulocyte macrophage) directly intervening in the activation of JAK2 and STAT5 (JAK/STAT pathway)

Phenotypes From GWAS Catalog for CSF2RA Gene

Gene Ontology (GO) - Molecular Function for CSF2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IBA 21873635
GO:0005515 protein binding IPI,IEA 25416956
GO:0019955 cytokine binding IBA 21873635
GO:0038023 signaling receptor activity TAS 1358805
genes like me logo Genes that share ontologies with CSF2RA: view
genes like me logo Genes that share phenotypes with CSF2RA: view

Human Phenotype Ontology for CSF2RA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 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:0009897 external side of plasma membrane IBA 21873635
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

PathCards logo

SuperPathways for CSF2RA Gene

SuperPathway Contained pathways
1 RET signaling
2 Akt Signaling
.60
.60
.55
3 G beta-gamma signalling through PI3Kgamma
4 Signaling by GPCR
5 PEDF Induced Signaling
.47
genes like me logo Genes that share pathways with CSF2RA: view

Pathways by source for CSF2RA Gene

6 Qiagen pathways for CSF2RA Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Molecular Mechanisms of Cancer
  • p38 Signaling
  • STAT3 Pathway

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:0019221 cytokine-mediated signaling pathway TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with CSF2RA: view

Drugs & Compounds for CSF2RA Gene

(13) Drugs for CSF2RA Gene - From: DrugBank, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sargramostim Approved, Investigational Pharma Target, agonist, binder 1078
Foreskin fibroblast (neonatal) Approved Pharma Target, agonist 0
Foreskin keratinocyte (neonatal) Approved Pharma Target, agonist 0
Clove oil Approved Nutra Target 0
KB002 Investigational Pharma Target, Target 0

(2) 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

mRNA/cDNA for CSF2RA Gene

10 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for CSF2RA Gene

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



Protein tissue co-expression partners for CSF2RA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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 31 30
  • 98.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC609266 30
  • 68.59 (n)
CSF2RA 31
  • 52 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC100336606 30
  • 66.76 (n)
CSF2RA 31
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Csf2ra 17 31 30
  • 48.31 (n)
rat
(Rattus norvegicus)
Mammalia Csf2ra 30
  • 47.16 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 37 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 36 (a)
OneToMany
chicken
(Gallus gallus)
Aves CSF2RA 30
  • 48.39 (n)
-- 31
  • 34 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732217 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CSF2RA: view image

Paralogs for CSF2RA Gene

(1) SIMAP similar genes for CSF2RA Gene using alignment to 6 proteins:

  • CSF2R_HUMAN
  • F2Z3C9_HUMAN
  • J3JS73_HUMAN
  • J3JS74_HUMAN
  • Q16498_HUMAN
  • V9GYE9_HUMAN
genes like me logo Genes that share paralogs with CSF2RA: view

Variants for CSF2RA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CSF2RA Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
635561 Uncertain Significance: Surfactant metabolism dysfunction, pulmonary, 4 1,288,580(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
636352 Uncertain Significance: not provided 1,285,868(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
641107 Uncertain Significance: Surfactant metabolism dysfunction, pulmonary, 4 1,300,592(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
641401 Uncertain Significance: Surfactant metabolism dysfunction, pulmonary, 4 1,288,531(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
642779 Uncertain Significance: Surfactant metabolism dysfunction, pulmonary, 4 1,288,550(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for CSF2RA Gene

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

(13) MalaCards diseases for CSF2RA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- 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 23 41 54
  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 23 54
  3. 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 23 54
  4. 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 23 54
  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 23 54

Products for CSF2RA Gene