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Set Analyses:

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CSF2RA Gene

protein-coding GIFtS: 68
GCID: GC0XP001347

Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity...

(Previous symbol: CSF2R)

See related diseases
at

MalaCards

(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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity (Granulocyte-Macrophage)¹ ²		CSF2RAY²
CSF2R¹ ² ³		CSF2RX²
CDw116² ³		GMCSFR²
CSF2RY² ³		GMR²
GM-CSF-R-alpha² ³		SMDP4²
GMCSFR-alpha² ³		Colony Stimulating Factor 2 Receptor Alpha Subunit²
GMR-alpha² ³		GM-CSF Receptor Alpha Subunit²
CD116 Antigen² ³		Granulocyte-Macrophage Colony-Stimulating Factor Receptor Alpha Chain²
CD116²		Granulocyte-Macrophage Colony-Stimulating Factor Receptor Subunit Alpha²
CSF2RAX²

External Ids:	HGNC: 2435¹	Entrez Gene: 1438²	Ensembl: ENSG00000198223⁷	OMIM: 306250,425000⁵	UniProtKB: P15509³

ORGUL members:

Export aliases for CSF2RA gene to outside databases

Previous GC identifers: GC00U990072 GC0YU900008 GC0YM001355 GC0XM001355

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include cytokine receptor activity and receptor activity. An important paralog of this gene is IL3RA.

UniProtKB/Swiss-Prot: CSF2R_HUMAN, P15509

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 Wiki entry for CSF2RA (Granulocyte macrophage colony-stimulating factor receptor) 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:

NC_000023.11 NT_187358.1 NC_000024.10 NT_167201.2 NC_018934.2

Regulatory elements:

Regulatory transcription factor binding sites in the CSF2RA gene promoter:
Max1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CSF2RA promoter sequence

Search Chromatin IP Primers for CSF2RA

Epigenetics:

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

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.32 and Yp11.3 Ensembl cytogenetic band: Xp22.33 HGNC cytogenetic band: Xp22.32 and Yp11.3

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

GeneLoc information about chromosome X GeneLoc Exon Structure

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

Start:	1,387,693 bp from pter	End:	1,429,274 bp from pter
Size:	41,582 bases	Orientation:	plus strand

1 alternative location:

ChrY+ 1,337,693-1,378,828

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CSF2R_HUMAN, P15509 (See protein sequence)

Recommended Name: Granulocyte-macrophage colony-stimulating factor receptor subunit alpha precursor

Size: 400 amino acids; 46207 Da

Subunit: 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

Sequence caution: Sequence=AAA60962.1; Type=Miscellaneous discrepancy;

1 PDB 3D structure from and Proteopedia for CSF2RA:

3CXE (3D)

Secondary accessions: A7J003 A8KAM1 B4DW68 J3JS76 J3JS77 O00207 Q14429 Q14430 Q14431 Q16564

Alternative splicing: 8 isoforms: P15509-1 P15509-2 P15509-3 P15509-4 P15509-5 P15509-6 P15509-7 P15509-8

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

Explore proteomics data for CSF2RA at MOPED

Post-translational modifications:

Glycosylation² at Asn46, Asn54, Asn99, Asn123, Asn135, Asn182, Asn195, Asn223, Asn229, Asn272,
Asn305

Modification sites at PhosphoSitePlus

See CSF2RA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (9 alternative transcripts):

NP_001155001.1 NP_001155002.1 NP_001155003.1 NP_001155004.1 NP_006131.2 NP_758448.1 NP_758449.1 NP_758450.1

NP_758452.1

ENSEMBL proteins:

ENSP00000370940 ENSP00000370935 ENSP00000410667 ENSP00000397452 ENSP00000370920

ENSP00000476684 ENSP00000348058 ENSP00000436825 ENSP00000347606 ENSP00000370911

ENSP00000416437 ENSP00000394227 ENSP00000354836 ENSP00000440491

Reactome Protein details: P15509

CSF2RA Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for CSF2RA (GM-CSF R alpha)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins for CSF2RA OriGene Protein Over-expression Lysate for CSF2RA OriGene MassSpec for CSF2RA OriGene Custom Protein Services for CSF2RA
	GenScript Custom Purified and Recombinant Proteins Services for CSF2RA
	Novus Biologicals CSF2RA Proteins Novus Biologicals CSF2RA Lysates
	Sino Biological Recombinant Protein for CSF2RA Sino Biological Cell Lysate for CSF2RA
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

CSF2RA Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CSF2RA
	R&D Systems Antibodies for CSF2RA (GM-CSF R alpha)
	OriGene Antibodies for CSF2RA OriGene Custom Antibody Services for CSF2RA
	Novus Biologicals CSF2RA Antibodies
	Abcam antibodies for CSF2RA
	Browse Antibodies at Cloud-Clone Corp.
	ThermoFisher Antibodies for CSF2RA
	LSBio Antibodies in human, mouse, rat for CSF2RA

CSF2RA Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for CSF2RA
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CSF2RA
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

CD: CD molecules

PAR1: Pseudoautosomal regions / PAR1

IUPHAR Guide to PHARMACOLOGY protein family classification: GM-CSF receptor, alpha subunit

IL-3 receptor family

4 InterPro protein domains:

IPR015321 IL-6_rcpt_alpha-bd

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR003532 Short_hematopoietin_rcpt_2_CS

Graphical View of Domain Structure for InterPro Entry P15509

ProtoNet protein and cluster: P15509

1 Blocks protein domain: IPB003532 Short hematopoietin receptor

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

Domain: The box 1 motif is required for JAK interaction and/or activation

Similarity: Belongs to the type I cytokine receptor family. Type 5 subfamily

Similarity: Contains 1 fibronectin type-III domain

CSF2RA for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: CSF2R_HUMAN, P15509

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 entry for CSF2RA:

colony-stimulating factor (CSF2) receptor,X-linked (granulocyte macrophage) directly intervening in the activation

of JAK2 and STAT5 (JAK/STAT pathway)

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	1358805
GO:0004896	cytokine receptor activity	IEA	--
GO:0005515	protein binding	--	--

CSF2RA for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CSF2RA

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CSF2RA

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CSF2RA

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. 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

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

CSF2R_HUMAN, P15509: Cell membrane; Single-pass type I membrane protein

CSF2R_HUMAN, P15509: Isoform 3: Secreted (Probable)

CSF2R_HUMAN, P15509: Isoform 4: Secreted (Probable)

CSF2R_HUMAN, P15509: Isoform 6: Secreted (Probable)

Subcellular locations from COMPARTMENTS:

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

About this image

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

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	--	--

CSF2RA for ontologies About GeneDecksing

(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 GeneDecks, 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).
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SuperPaths for CSF2RA About (see all 10)

See pathways by source

SuperPath

Contained pathways About

PEDF Induced Signaling

STAT3 Pathway

0.47

Cytokine-cytokine receptor interaction

0.43

Signaling by Interleukins

	Interleukin receptor SHC signaling	0.67			Interleukin-3, 5 and GM-CSF signaling	0.59
	Interleukin-2 signaling	0.67			Signaling by Interleukins	0.42

Akt Signaling

	Akt Signaling	0.60			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

Interferon Signaling

Cytokine Signaling in Immune system

0.59

PAK Pathway

Antioxidant Action of Vitamin-C

0.56

Pathways by source See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CSF2RA (see all 6)

	STAT3 Pathway
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	p38 Signaling
	Akt Signaling

2 Reactome Pathways for CSF2RA

	Interleukin receptor SHC signaling
	Interleukin-3, 5 and GM-CSF signaling

4 Kegg Pathways (Kegg details for CSF2RA):

	Cytokine-cytokine receptor interaction
	Jak-STAT signaling pathway
	Hematopoietic cell lineage
	Pathways in cancer

CSF2RA for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including CSF2RA:

Interferons & Receptors in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Interactions:

GeneGlobe Interaction Network for CSF2RA

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for CSF2RA (P15509^{2, 3} ENSP00000370935⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 40)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PIK3R1	P27986²^,³, ENSP00000274335⁴	MINT-8111763 I2D: score=5 STRING: ENSP00000274335
CHUK	O15111³, ENSP00000359424⁴	I2D: score=2 STRING: ENSP00000359424
CSF2RB	P32927³, ENSP00000384053⁴	I2D: score=2 STRING: ENSP00000384053
RPSA	P08865³, ENSP00000346067⁴	I2D: score=1 STRING: ENSP00000346067
CSF2	P04141³, ENSP00000296871⁴	I2D: score=3 STRING: ENSP00000296871

About this table

(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)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for CSF2RA (CSF2R)

1 DrugBank Compound for CSF2RA About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Sargramostim	Colony-stimulating factor (see all 5)	83869-56-1	target	agonist	17090651 11752352 16638185 16760463 17522711

1 IUPHAR Ligand for CSF2RA (GM-CSF receptor, alpha subunit) About this table

Ligand	Type	Action	Affinity	Pubmed IDs
GM-CSF	Agonist	Agonist		--

4 Novoseek inferred chemical compound relationships for CSF2RA gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gp 130	40.8	2	11306493 (1), 9675079 (1)
tyrosine	38.1	5	8298195 (2), 11698308 (1), 9389692 (1)
serine	5.53	2	1715577 (1)
glucose	0	3	7849318 (1), 7696970 (1)

CSF2RA for compounds About GeneDecksing

(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CSF2RA gene (10 alternative transcripts):

NM_001161529.1 NM_001161530.1 NM_001161531.1 NM_001161532.1 NM_006140.4 NM_172245.2 NM_172246.2 NM_172247.2

NM_172249.2 NM_172248.1

Unigene Cluster for CSF2RA:

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

Hs.520937 [show with all ESTs]

Unigene Representative Sequence: NM_001161529

Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):

ENST00000381529 ENST00000381524(uc004cpn.2 uc010ncu.2) ENST00000493312

ENST00000412290 ENST00000419094 ENST00000381509(uc011mhb.1) ENST00000494969

ENST00000481245 ENST00000355805 ENST00000486791 ENST00000355432 ENST00000381500

ENST00000477940 ENST00000478256 ENST00000475259 ENST00000491683 ENST00000498153

ENST00000432318(uc010nct.2 uc004cpo.2)

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

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)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSF2RA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSF2RA

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

Additional mRNA sequence:

AK293086.1 AK301395.1 AK309630.1 AL833597.1 BC002635.1 BC071835.1 DQ841258.1 L29348.1

L29349.1 M64445.1 M73832.1 NR_027760.1 U93096.1 X17648.1 X54935.1

Selected DOTS entries (see all 28):

DT.454155 DT.86853517 DT.100819891 DT.120651231 DT.100819887 DT.100819889 DT.100023263 DT.100819894

DT.91680973 DT.91903275 DT.120651257 DT.121277687 DT.40105950 DT.92424763 DT.95162396 DT.95201746

DT.120651247 DT.95162394 DT.100800368 DT.100819897 DT.120651235 DT.121277672 DT.121277688 DT.86837287

Selected AceView cDNA sequences (see all 77):

BX459288 L29349 NM_172245 X54935 BX397893 BX324688 AL542941 BG477733

L29348 BX336675 BX336385 M73832 NM_006140 CD366453 NM_172247 NM_172249

BE391340 X17648 BC002635 NM_172246 U93096 CA426022 NM_172248 AL833597

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for CSF2RA (see all 11) About this scheme

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:											-		-						-												-								-		-						-

ExUns:	16c
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CSF2RA

(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 GeneDecks, 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) CSF2RA embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

CSF2RA expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 4) fully expand


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

CSF2RA Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

CSF2RA Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.520937

Pathway & Disease-focused RT² Profiler PCR Arrays including CSF2RA:

Interferons & Receptors in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

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 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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This gene was present in the common ancestor of chordates.

Orthologs for CSF2RA gene from Selected species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Csf2ra¹	colony stimulating factor 2 receptor, alpha, low-affinity more	48.31(n) 36.8(a)	12982 NM_009970.2 NP_034100.2
chicken (Gallus gallus)	Aves	CSF2RA¹	colony stimulating factor 2 receptor, alpha, low-affinity more	48.39(n) 35.96(a)	418667 XM_416863.3 XP_416863.1
tropical clawed frog (Xenopus tropicalis)	Amphibia	LOC101732217¹	interleukin-5 receptor subunit alpha-like	45.63(n) 28.75(a)	101732217 XM_004919901.1 XP_004919958.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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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

CSF2RA for paralogs About GeneDecksing

(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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SNP ID	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
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

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 306250,425000 OMIM disorders: --

UniProtKB/Swiss-Prot: CSF2R_HUMAN, P15509

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

Selected diseases for CSF2RA (see all 29): About MalaCards

surfactant metabolism dysfunction, pulmonary, 4 csf2ra-related pulmonary surfactant metabolism dysfunction interleukin-7 receptor alpha deficiency pulmonary surfactant metabolism dysfunction

cblc acute basophilic leukemia surfactant metabolism dysfunction, pulmonary, 1 aplastic anemia

pulmonary alveolar proteinosis chronic myeloid leukemia respiratory failure atopic dermatitis

diphtheria acute myeloid leukemia myeloid leukemia myelodysplastic syndromes

choriocarcinoma dermatitis inflammatory bowel disease prostate cancer

2 diseases from the University of Copenhagen DISEASES database for CSF2RA:

Pulmonary alveolar proteinosis Leukemia

CSF2RA for disorders About GeneDecksing

7 Novoseek inferred disease relationships for CSF2RA gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leukemia	40.2	5	7934175 (2), 9332306 (1), 11238105 (1), 8418381 (1)
myeloid leukemia chronic	23.8	1	9131005 (1)
leukemia lymphocytic chronic	10.8	1	8695795 (1)
cancer	3.13	1	15497703 (1)
necrosis	0	3	9328452 (1), 9389700 (1)
tumors	0	5	7849318 (1), 9328452 (1), 9389700 (1)
prostate cancer	0	1	8687098 (1)

Genetic Association Database (GAD): CSF2RA
Human Genome Epidemiology (HuGE) Navigator: CSF2RA (3 documents)

Export disorders for CSF2RA gene to outside databases

(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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PubMed articles for CSF2RA gene, integrated from 10 sources (see all 161):
(articles sorted by number of sources associating them with CSF2RA)

Utopia: connect your pdf to the dynamic
world of online information

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)
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)
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)
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)
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)
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)
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)
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)
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)
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. (PubMed id 18955570)^{1, 2} Suzuki T.... Trapnell B.C. (J. Exp. Med. 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1438	HGNC: 2435	AceView: CSF2RA.1	Ensembl:ENSG00000198223	euGenes: HUgn1438
ECgene: CSF2RA	Kegg: 1438	H-InvDB: CSF2RA

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CSF2RA	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CSF2RA	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CSF2RA gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CSF2RA gene:
Search GeneIP for patents involving CSF2RA

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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CSF2RA Gene

Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity...

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CSF2RA (Gene Symbol)
Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity (Granulocyte-Macrophage)
CSF2R
CDw116
CSF2RY
GM-CSF-R-alpha
GMCSFR-alpha
GMR-alpha
CD116 Antigen
CD116
CSF2RAX
CSF2RAY
CSF2RX
GMCSFR
GMR
SMDP4
Colony Stimulating Factor 2 Receptor Alpha Subunit
GM-CSF Receptor Alpha Subunit
Granulocyte-Macrophage Colony-Stimulating Factor Receptor Alpha Chain
Granulocyte-Macrophage Colony-Stimulating Factor Receptor Subunit Alpha

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CSF2RA Gene

Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity...

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