CSF2RA Gene

Aliases
for CSF2RA gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC00U990072 GC0YU900008 GC0YM001355 GC0XM001355

Summaries
for CSF2RA gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for CSF2RA gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000023.10  NT_187358.1  NC_000024.9  NT_167201.2  NC_018934.2  

SwitchGear Promoter luciferase reporter plasmid: CSF2RA promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSF2RA

CSF2RA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP001347:  view genomic region     (about GC identifiers)

Proteins
for CSF2RA gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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1 PDB 3D structure from and Proteopedia for CSF2RA:

3CXE (3D)    

Explore the universe of human proteins at neXtProt for CSF2RA: NX_P15509

Explore proteomics data for CSF2RA at MOPED

Post-translational modifications: 

CSF2RA Human Recombinant Protein Products:

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	antibodies-online proteins for CSF2RA (13 products)
	antibodies-online peptides for CSF2RA

CSF2RA Antibody Products:

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	ThermoFisher Antibodies for CSF2RA
	antibodies-online antibodies for CSF2RA (64 products)

CSF2RA Assay Products:

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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for CSF2RA
	antibodies-online kits for CSF2RA (23 products)

Domains /
Families
for CSF2RA gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P15509

Find genes that share domains with CSF2RA           About GenesLikeMe

Function
for CSF2RA gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 3 molecular function terms:    About this table

genOway: Develop your customized and physiologically relevant rodent model for CSF2RA

miRNA Products:		Block miRNA regulation of human, mouse, rat CSF2RA using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate CSF2RA
		SwitchGear 3'UTR luciferase reporter plasmid: CSF2RA 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for CSF2RA
		Predesigned siRNA for gene silencing in human, mouse, rat CSF2RA

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for CSF2RA

Clone Products:		OriGene clones in human, mouse for CSF2RA (see all 48) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 9): CSF2RA (NM_006140)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSF2RA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSF2RA

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CSF2RA
		Browse ESI BIO Cell Lines and PureStem Progenitors for CSF2RA

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RA

Localization
for CSF2RA gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
plasma membrane	5
extracellular	4
endoplasmic reticulum	1
mitochondrion	1
nucleus	1
peroxisome	1

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Gene Ontology (GO): 4 cellular component terms:    About this table

Pathways & Interactions
for CSF2RA gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Drugs & Compounds
for CSF2RA gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for CSF2RA gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for CSF2RA gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CSF2RA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

Adipose (Muscoskeletal System)    fully expand to see all 2 entries
Adipose-derived stem cells (StemGenex)
Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
Human embryonic stem cells (family)
Mesenchymal Stem Cells
Adipose-derived stem cells (StemGenex)
Blood (Hematopoietic System)
Granulocytes Peripheral Blood

Primer Products:		OriGene qPCR primer pairs and template standards for CSF2RA OriGene qSTAR qPCR primer pairs in human, mouse for CSF2RA
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CSF2RA
		QuantiTect SYBR Green Assays in human, mouse, rat CSF2RA
		QuantiFast Probe-based Assays in human, mouse, rat CSF2RA

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RA

Orthologs
for CSF2RA gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for CSF2RA gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for CSF2RA gene

IL3RA²  

1 SIMAP similar gene for CSF2RA using alignment to 6 protein entries:     CSF2R_HUMAN (see all proteins):

IL3RA

Find genes that share paralogs with CSF2RA           About GenesLikeMe

Genomic Variants
for CSF2RA gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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1 SNPs for CSF2RA    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0585074		Pulmonary surfactant metabolism dysfunction 4 (SMDP4)4	--	see VAR_058507	2	G R	mis4		0	--	--	--	--

HapMap Linkage Disequilibrium report for CSF2RA (1387693 - 1429274 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for CSF2RA (see all 23):    About this table    

Variant ID	Type	Subtype	PubMed ID
esv2739661	CNV	Deletion	23290073
esv2739646	CNV	Deletion	23290073
esv2739659	CNV	Deletion	23290073
esv2739654	CNV	Deletion	23290073
esv2670322	CNV	Deletion	23128226
esv2739658	CNV	Deletion	23290073
dgv1353e201	CNV	Deletion	23290073
esv2739657	CNV	Deletion	23290073
esv2739664	CNV	Deletion	23290073
esv2739655	CNV	Deletion	23290073

Human Gene Mutation Database (HGMD): CSF2RA
Locus Specific Mutation Databases (LSDB): CSF2RA

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing CSF2RA

DNA2.0 Custom Variant and Variant Library Synthesis for CSF2RA

Disorders / Diseases
for CSF2RA gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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. Note=The disease is

caused by mutations affecting the gene represented in this entry

7 diseases for CSF2RA:    
About MalaCards

7 Novoseek inferred disease relationships for CSF2RA gene    About this table

Publications
for CSF2RA gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. (PubMed id 17522711)^{1, 4, 7} Lencz T....Malhotra A.K. (Mol. Psychiatry 2007)
2. A functional isoform of the human granulocyte/macrophage colony- stimulating factor receptor has an unusual cytoplasmic domain. (PubMed id 1715577)^{1, 2, 9} Crosier K.E.... Sieff C.A. (Proc. Natl. Acad. Sci. U.S.A. 1991)
3. Association between interleukin-3 receptor alpha polymorphism and schizophrenia in the Chinese population. (PubMed id 18547720)^{1, 4, 9} Sun S....Zhang X.Y. (Neurosci. Lett. 2008)
4. Discovery and characterization of a novel splice variant of the GM- CSF receptor alpha subunit. (PubMed id 17681666)^{1, 2, 9} Pelley J.L.... Brown C.B. (Exp. Hematol. 2007)
5. The alpha subunit of the granulocyte-macrophage colony-stimulating factor receptor interacts with c-Kit and inhibits c-Kit signaling. (PubMed id 16760463)^{1, 7, 9} Chen J....Golde D.W. (J. Biol. Chem. 2006)
6. Identification and molecular cloning of a soluble human granulocyte- macrophage colony-stimulating factor receptor. (PubMed id 1832774)^{1, 2, 9} Raines M.A.... Golde D.W. (Proc. Natl. Acad. Sci. U.S.A. 1991)
7. A family-based study of the IL3RA gene on susceptibility to schizophrenia in a Chinese Han population. (PubMed id 19281803)^{1, 4, 9} Sun S....Zhang X.Y. (Brain Res. 2009)
8. Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. (PubMed id 18955567)^{1, 2} Martinez-Moczygemba M.... Huston D.P. (J. Exp. Med. 2008)
9. The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation. (PubMed id 18692472)^{1, 2} Hansen G.... Parker M.W. (Cell 2008)
10. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. (PubMed id 18955570)^{1, 2} Suzuki T.... Trapnell B.C. (J. Exp. Med. 2008)

External Searches for CSF2RA gene

Genome Databases showing CSF2RA gene

Other Databases showing CSF2RA gene

Specialized Databases showing CSF2RA gene

Products
for CSF2RA gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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