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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CSF2RA Gene

protein-coding GIFtS: 67
GCID: GC0XP001347

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

(Previous symbol: CSF2R)

25 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)
About This Section

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: 306250⁵	UniProtKB: P15509³

ORGUL members:
	NONCODE¹⁴:n408005

Export aliases for CSF2RA gene to outside databases

Previous GC identifers: GC00U990072 GC0YU900008 GC0YM001355 GC0XM001355

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with CSF2RA include pulmonary alveolar proteinosis, and csf2ra-related pulmonary surfactant metabolism dysfunction, and among its related super-pathways are STAT3 Pathway and Interleukin receptor SHC signaling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_000024.9 NC_018934.2 NT_167196.1 NT_167204.1

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for CSF2RA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

Subcellular location: Cell membrane; Single-pass type I membrane protein

Subcellular location: Isoform 3: Secreted (Probable)

Subcellular location: Isoform 4: Secreted (Probable)

Subcellular location: Isoform 6: Secreted (Probable)

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:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P15509

CSF2RA Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

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

ENSP00000348058 ENSP00000436825 ENSP00000347606 ENSP00000370911 ENSP00000416437

ENSP00000394227 ENSP00000354836 ENSP00000440491

Reactome Protein details: P15509
Human Recombinant Protein Products for CSF2RA:

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	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.

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	2555171
GO:0016020	membrane	--	--

CSF2RA for ontologies About GeneDecksing

CSF2RA Antibody Products:

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	GenScript Custom Superior Antibodies Services for CSF2RA
	Novus Biologicals CSF2RA Antibodies
	Abcam antibodies for CSF2RA
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Assay Products for CSF2RA:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for CSF2RA
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	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)
About This Section

HGNC Gene Families:

CD: CD molecules

PAR1: Pseudoautosomal regions / PAR1

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

IL-3 receptor family

4 InterPro protein domains:

IPR015321 IL6_recept-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

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): 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 - Custom generated mouse model solutions for CSF2RA

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CSF2RA

miRNA Products:
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 9): CSF2RA (NM_006140)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RA

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for CSF2RA About (see all 11)

See pathways by source

SuperPath

Contained pathways About

PEDF Induced Signaling

STAT3 Pathway

0.47

Cytokine-cytokine receptor interaction

0.43

Interleukin-3, 5 and GM-CSF signaling

	Interleukin receptor SHC signaling	0.67			Interleukin-3, 5 and GM-CSF signaling	0.57
	Interleukin-2 signaling	0.67			Signaling by Interleukins	0.45

Akt Signaling

	Akt Signaling	0.60			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

Interferon Signaling

Cytokine Signaling in Immune system

0.61

PAK Pathway

Antioxidant Action of Vitamin-C

0.56

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for CSF2RA

Selected targets of C/EBPalpha

5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CSF2RA (see all 6)

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

5/6 Reactome Pathways for CSF2RA (see all 6)

	Interleukin receptor SHC signaling
	Interleukin-2 signaling
	Cytokine Signaling in Immune system
	Interleukin-3, 5 and GM-CSF signaling
	Signaling by Interleukins

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

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CSF2RA

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

5/40 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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CSF2RA for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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, α 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)

Search CenterWatch for drugs/clinical trials and news about CSF2RA / CSF2R

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

18/21 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)

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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against CSF2RA

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CSF2RA
		QIAGEN 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

24/28 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

24/77 AceView cDNA sequences (see all 77):

BG477733 BE391340 NM_172247 BX459288 M73832 CD366453 BX324688 U93096

AL542941 NM_172249 BC002635 CA426022 NM_006140 BX336675 BX397893 X17648

BX336385 L29349 NM_172248 NM_172245 NM_172246 X54935 L29348 BI868829

GeneLoc Exon Structure

5/11 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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

See CSF2RA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CSF2RA

SOURCE GeneReport for Unigene cluster: Hs.520937

SABiosciences Expression via Pathway-Focused 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
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CSF2RA
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		QIAGEN 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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CSF2RA gene from 2/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Csf2ra¹	colony stimulating factor 2 receptor, alpha, low-affinity more	48.01(n) 37.12(a)		12982 NM_009970.2 NP_034100.2
chicken (Gallus gallus)	Aves	CSF2RA¹	granulocyte-macrophage colony-stimulating factor receptor more	48.15(n) 35.93(a)		418667 XM_416863.2 XP_416863.1

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)
About This Section

Paralogs for CSF2RA gene

IL3RA²

1 SIMAP similar gene for CSF2RA using alignment to 5 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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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) 10/23 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

SABiosciences Cancer Mutation PCR Assays

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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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CSF2RA for disorders           About GeneDecksing

OMIM gene information: 306250
OMIM disorders: 300770
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

20/25 diseases for CSF2RA (see all 25): About MalaCards

pulmonary alveolar proteinosis csf2ra-related pulmonary surfactant metabolism dysfunction acute basophilic leukemia interleukin-7 receptor alpha deficiency

pulmonary surfactant metabolism dysfunction cblc aplastic anemia chronic myeloid leukemia

respiratory failure atopic dermatitis diphtheria acute myeloid leukemia

myeloid leukemia myelodysplastic syndromes choriocarcinoma dermatitis

inflammatory bowel disease prostate cancer anemia schizophrenia

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

Pulmonary alveolar proteinosis Leukemia

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 9 sources (see all 160):
(articles sorted by number of sources associating them with CSF2RA)

Utopia: connect your pdf to the dynamic
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Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. (PubMed id 17522711)^{1, 4, 7} Lencz T....Malhotra A.K. (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. (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. (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. (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. (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. (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. (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. (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. (2008)
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. (PubMed id 18955570)^{1, 2} Suzuki T....Trapnell B.C. (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, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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
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Patent Information for CSF2RA gene:
Search GeneIP for patents involving CSF2RA

GeneCards and IP:
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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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