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CSF2RB Gene

protein-coding GIFtS: 67
GCID: GC22P037309

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

(Previous symbol: IL3RB)

See CSF2RB-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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Aliases
Colony Stimulating Factor 2 Receptor, Beta, Low-Affinity (Granulocyte-Macrophage)¹ ²		CD131²
IL3RB¹ ² ³		Colony-Stimulating Factor-2 Receptor, Beta, Low-Affinity²
CDw131² ³		Cytokine Receptor Common Subunit Beta²
IL5RB² ³		GM-CSF/IL-3/IL-5 Receptor Common Beta-Chain²
GM-CSF/IL-3/IL-5 Receptor Common Beta Subunit² ³		Interleukin 3 Receptor/Granulocyte-Macrophage Colony Stimulating Factor 3 Receptor, Beta (High Affinity)²
SMDP5² ⁵		CD131 Antigen³

External Ids:	HGNC: 2436¹	Entrez Gene: 1439²	Ensembl: ENSG00000100368⁷	OMIM: 138981⁵	UniProtKB: P32927³

Export aliases for CSF2RB gene to outside databases

Previous GC identifers: GC22P033932 GC22P035552 GC22P035561 GC22P035642 GC22P020271

(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 CSF2RB Gene:

The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF.

Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). (provided by

RefSeq, Jul 2008)

GeneCards Summary for CSF2RB Gene:

CSF2RB (colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)) is a protein-coding gene. Diseases associated with CSF2RB include surfactant metabolism dysfunction, pulmonary, 5, and surfactant metabolism dysfunction, pulmonary, 1. GO annotations related to this gene include interleukin-5 receptor activity and receptor activity.

UniProtKB/Swiss-Prot: IL3RB_HUMAN, P32927

Function: High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating

factor

(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_000022.10 NT_011520.13 NC_018933.2

Regulatory elements:

Regulatory transcription factor binding sites in the CSF2RB gene promoter:
GR AML1a GR-beta IRF-1 RORalpha1 POU2F1 POU2F1a Chx10 ARP-1 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CSF2RB promoter sequence

Search Chromatin IP Primers for CSF2RB

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSF2RB

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

Entrez Gene cytogenetic band: 22q13.1 Ensembl cytogenetic band: 22q12.3 HGNC cytogenetic band: 22q12.2-q13.1

CSF2RB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSF2RB gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P037309: view genomic region (about GC identifiers)

Start:	37,309,670 bp from pter	End:	37,336,491 bp from pter
Size:	26,822 bases	Orientation:	plus strand

(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, and/or antibodies-online,
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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UniProtKB/Swiss-Prot: IL3RB_HUMAN, P32927 (See protein sequence)

Recommended Name: Cytokine receptor common subunit beta precursor

Size: 897 amino acids; 97336 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. Interacts with TMEM102; this interaction occurs preferentially in the absence of

CSF2. Interacts with LYN (By similarity)

5 PDB 3D structures from and Proteopedia for CSF2RB:

1C8P (3D)

1EGJ (3D)

1GH7 (3D)

2GYS (3D)

3CXE (3D)

Secondary accessions: Q5JZI1 Q6ICE0

Alternative splicing: 2 isoforms: P32927-1 P32927-2

Explore the universe of human proteins at neXtProt for CSF2RB: NX_P32927

Explore proteomics data for CSF2RB at MOPED

Post-translational modifications:

May be phosphorylated by LYN (By similarity)¹

Glycosylation² at Asn58, Asn191, Asn346

Modification sites at PhosphoSitePlus

See CSF2RB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000386.1

ENSEMBL proteins:

ENSP00000384053 ENSP00000385271 ENSP00000393585 ENSP00000262825 ENSP00000440003

Reactome Protein details: P32927

CSF2RB Human Recombinant Protein Products:

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	Novus Biologicals CSF2RB Proteins Novus Biologicals CSF2RB Lysate
	Sino Biological Recombinant Protein for CSF2RB Sino Biological Cell Lysate for CSF2RB
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	Browse Proteins at Cloud-Clone Corp.
	Search eBioscience for Proteins for CSF2RB
	antibodies-online proteins for CSF2RB (4 products)
	antibodies-online peptides for CSF2RB

CSF2RB Antibody Products:

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CSF2RB 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 CSF2RB
	antibodies-online kits for CSF2RB (11 products)

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

FN3: Fibronectin type III domain containing

CD: CD molecules

IUPHAR Guide to PHARMACOLOGY protein family classification: Cytokine receptor common beta subunit

IL-3 receptor family

5 InterPro protein domains:

IPR015321 IL-6_rcpt_alpha-bd

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR011365 IL3_rcpt_beta

IPR003531 Hempt_rcpt_S_F1_CS

Graphical View of Domain Structure for InterPro Entry P32927

ProtoNet protein and cluster: P32927

1 Blocks protein domain: IPB003531 Short hematopoietin receptor

UniProtKB/Swiss-Prot: IL3RB_HUMAN, P32927

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 4 subfamily

Similarity: Contains 2 fibronectin type-III domains

Find genes that share domains with CSF2RB About GenesLikeMe

(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.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: IL3RB_HUMAN, P32927

Function: High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating

factor

Genatlas biochemistry entry for CSF2RB:

colony-stimulating factor 2 (granulocyte,macrophage), interleukin 3,interleukin 5 receptor common subunit beta

(high affinity),critical for the activation of both the JAK/STAT (JAK2,STAT5) and MAP kinase pathways,involved in

LYN binding

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	9410898
GO:0004896	cytokine receptor activity	--	--
GO:0004912	contributes to interleukin-3 receptor activity	TAS	9410898
GO:0004914	contributes to interleukin-5 receptor activity	TAS	9410898
GO:0005515	protein binding	IPI	1495999

Find genes that share ontologies with CSF2RB About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for CSF2RB:

Increased 8N DNA content

4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Csf2rb):

hematopoietic system

homeostasis/metabolism

immune system

respiratory system

Find genes that share phenotypes with CSF2RB About GenesLikeMe

Animal Models:
MGI mouse knock-outs for CSF2RB: Csf2rb^tm1Clsc Csf2rb^tm1Mur Csf2rb^tm1Cgb

genOway: Develop your customized and physiologically relevant rodent model for CSF2RB

miRNA Products:		Block miRNA regulation of human, mouse, rat CSF2RB using miScript Target Protectors
		7 qRT-PCR Assays for microRNAs that regulate CSF2RB:
		hsa-miR-365 hsa-miR-576-5p hsa-miR-19b hsa-miR-889 hsa-miR-155 hsa-miR-4282 hsa-miR-19a
		SwitchGear 3'UTR luciferase reporter plasmid: CSF2RB 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for CSF2RB
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RB

(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

IL3RB_HUMAN, P32927: Membrane; Single-pass type I membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	5
cytosol	1
extracellular	1
nucleus	1
peroxisome	1

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Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral component of plasma membrane	NAS	1702217
GO:0016020	membrane	--	--
GO:0016021	integral component of membrane	--	--
GO:0030526	granulocyte macrophage colony-stimulating factor receptor complex	TAS	9410898

Find genes that share ontologies with CSF2RB About GenesLikeMe

(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 CSF2RB About (see all 17)

See pathways by source

Powered
by

SuperPath

Contained pathways About

PEDF Induced Signaling

	PGC1Alpha Pathway	0.51			Glucocorticoid Receptor Signaling	0.43
	STAT3 Pathway	0.47			Cytokine-cytokine receptor interaction	0.43

TGF-Beta Pathway

	TGF-Beta Pathway	0.60			JAK-STAT Pathway	0.57
	MAPK Family Pathway	0.60			JNK Pathway	0.51

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

p70S6K Signaling

p70S6K Signaling

0.60

Find genes that share SuperPaths with CSF2RB About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CSF2RB (see all 15)

	MSP-RON Signaling
	STAT3 Pathway
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	Glucocorticoid Receptor Signaling

1 Cell Signaling Technology (CST) Pathway for CSF2RB

Jak/Stat Pathway

1 GeneGo (Thomson Reuters) Pathway for CSF2RB

Immune response IL-3 activation and signaling pathway

3 BioSystems Pathways for CSF2RB

	IL-5 Signaling Pathway
	Kit Receptor Signaling Pathway
	IL-3 Signaling Pathway

2 Reactome Pathways for CSF2RB

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

3 Kegg Pathways (Kegg details for CSF2RB):

	Cytokine-cytokine receptor interaction
	Apoptosis
	Jak-STAT signaling pathway

Pathway & Disease-focused RT² Profiler PCR Arrays including CSF2RB:

NFKB Signaling Targets in human mouse rat

Interferons & Receptors in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for CSF2RB

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

Selected Interacting proteins for CSF2RB (P32927^{1, 2, 3} ENSP00000384053⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 67)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SHC1	P29353²^,³, ENSP00000401303⁴	MINT-8286845 MINT-8286769 MINT-8286829 MINT-8035467 I2D: score=6 STRING: ENSP00000401303
PTPN11	Q06124²^,³, ENSP00000340944⁴	MINT-8035452 MINT-8035437 I2D: score=5 STRING: ENSP00000340944
IL5	P05113¹^,³, ENSP00000231454⁴	EBI-1809771,EBI-2435811 I2D: score=1 STRING: ENSP00000231454
PIK3R1	P27986², ENSP00000274335⁴	MINT-8286845 MINT-8286707 MINT-8286769 MINT-8286829 STRING: ENSP00000274335
JAK2	O60674¹^,²^,³, ENSP00000371067⁴	EBI-1809771,EBI-518647 MINT-8286707 I2D: score=5 STRING: ENSP00000371067

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Gene Ontology (GO): Selected biological process terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	NAS	1702217
GO:0007585	respiratory gaseous exchange	TAS	9410898
GO:0019221	cytokine-mediated signaling pathway	--	--
GO:0032496	response to lipopolysaccharide	IEA	--
GO:0036016	cellular response to interleukin-3	TAS	9410898

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(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 CSF2RB (IL3RB)

2 DrugBank Compounds for CSF2RB About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Sargramostim	Colony-stimulating factor (see all 5)	83869-56-1	target	agonist	17139284 1424804 17016423
Alpha-D-Mannose	--	3458-28-4	target	--	--

(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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REFSEQ mRNAs for CSF2RB gene:

NM_000395.2

Unigene Cluster for CSF2RB:

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

Hs.592192 [show with all ESTs]

Unigene Representative Sequence: NM_000395

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000403662(uc003aqa.4) ENST00000406230 ENST00000421539 ENST00000262825(uc003aqc.4)

ENST00000536485

miRNA Products:		Block miRNA regulation of human, mouse, rat CSF2RB using miScript Target Protectors
		7 qRT-PCR Assays for microRNAs that regulate CSF2RB:
		hsa-miR-365 hsa-miR-576-5p hsa-miR-19b hsa-miR-889 hsa-miR-155 hsa-miR-4282 hsa-miR-19a
		SwitchGear 3'UTR luciferase reporter plasmid: CSF2RB 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: CSF2RB (NM_000395)
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		QuantiFast Probe-based Assays in human, mouse, rat CSF2RB

Additional mRNA sequence:

AK302993.1 BC070085.1 CR456428.1 M59941.1

5 DOTS entries:

DT.99935002 DT.100744002 DT.101956029 DT.100687954 DT.453853

Selected AceView cDNA sequences (see all 112):

NM_000395 H55302 BX450991 AI718599 CR604461 AA761543 AI379138 C01377

CA428322 AU185738 BU617730 M59941 AA279147 AI523112 CR456428 CA448651

CA306570 AA960845 BC070085 AA847136 AA768316 BF002507 CD608381 BG002017

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for CSF2RB About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14
SP1:					-														-
SP2:					-
SP3:

ECgene alternative splicing isoforms for CSF2RB

(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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CSF2RB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TACCTGAAGT

About this image

CSF2RB expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 7) fully expand


Blood (Hematopoietic System) fully expand to see all 4 entries
Granulocytes Peripheral Blood

Thymus (Hematopoietic System)
T Helper Cells Thymus

Ovary (Reproductive System)
Cumulus Cells Antral Follicle

Yolk Sac (Extraembryonic Tissues)
Definitive Hematopoietic Stem Cells Definitive Yolk Sac

Tonsil (Hematopoietic System)

CSF2RB Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

CSF2RB Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.592192

Pathway & Disease-focused RT² Profiler PCR Arrays including CSF2RB:

NFKB Signaling Targets in human mouse rat

Interferons & Receptors in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for CSF2RB
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat CSF2RB
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		QuantiFast Probe-based Assays in human, mouse, rat CSF2RB

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RB

(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 CSF2RB gene from Selected species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Csf2rb⁵ Csf2rb2¹	colony stimulating factor 2 receptor, beta, low-affinity more⁵ colony stimulating factor 2 receptor, beta 2, low-affinity more¹	69.84(n)¹ 57.57(a)¹		15 (37.36 cM)⁵ 12984¹ NM_007781.2¹ NP_031807.1¹ 78325990⁵
chicken (Gallus gallus)	Aves	CSF2RB¹	colony stimulating factor 2 receptor, beta, low-affinity more	49.44(n) 37.68(a)		771315 XM_004937773.1 XP_004937830.1
lizard (Anolis carolinensis)	Reptilia	CSF2RB⁶	colony stimulating factor 2 receptor, beta, low-af...	25(a)	1 ↔ 1	5(22624398-22652867)
zebrafish (Danio rerio)	Actinopterygii	csf2rb⁶	colony stimulating factor 2 receptor, beta, low-af...	21(a)	1 ↔ 1	3(24609384-24629055) ENSDARG00000076586

ENSEMBL Gene Tree for CSF2RB (if available)
TreeFam Gene Tree for CSF2RB (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CSF2RB gene

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1 Pseudogenes.org Pseudogene for CSF2RB
PGOHUM00000259706

(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	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12628495^1,2	C,H	--	21224716(+)	`ATATAC/TGAGTT`	1	--	us2k¹		5		NA CSA WA EA	362
rs143498372^1,2		--	21224771(+)	`CATCTA/GTAAGG`	1	--	us2k¹		0	--	--	--	--
rs188716198^1,2		--	21224834(+)	`CAGCCA/GAAGGT`	1	--	us2k¹		0	--	--	--	--
rs73883973^1,2	C	--	21224845(+)	`CTGCTC/TACAGC`	1	--	us2k¹		3		WA NA	240
rs16997492^1,2	C,F	--	21224870(+)	`CCTGGT/CCATTA`	1	--	us2k¹		6		NA WA	380
rs191539811^1,2		--	21224930(+)	`AGATCA/GTCAAT`	1	--	us2k¹		0	--	--	--	--
rs182165558^1,2		--	21224959(+)	`ACATAA/CCACTG`	1	--	us2k¹		0	--	--	--	--
rs187204280^1,2		--	21224966(+)	`ACTGAA/CGGAAA`	1	--	us2k¹		0	--	--	--	--
rs114536776^1,2	C,F	--	21225104(+)	`CTCTAT/CGATGA`	1	--	us2k¹		1		WA	118
rs115153794^1,2	C,F	--	21225212(+)	`GTCTCG/TGGTTC`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for CSF2RB (37309670 - 37336491 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for CSF2RB: About this table

Variant ID	Type	Subtype	PubMed ID
nsv915010	CNV	Loss	21882294
dgv1405e1	CNV	Complex	17122850

Human Gene Mutation Database (HGMD): CSF2RB

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 138981
OMIM disorders: 614370
UniProtKB/Swiss-Prot: IL3RB_HUMAN, P32927

Pulmonary surfactant metabolism dysfunction 5 (SMDP5) [MIM:614370]: 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

3 diseases for CSF2RB:
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surfactant metabolism dysfunction, pulmonary, 5 surfactant metabolism dysfunction, pulmonary, 1 megakaryocytic leukemia

1 inferred disease relationship from the University of Copenhagen DISEASES database for CSF2RB:

Pulmonary alveolar proteinosis

Find genes that share disorders with CSF2RB About GenesLikeMe

Genetic Association Database (GAD): CSF2RB
Human Genome Epidemiology (HuGE) Navigator: CSF2RB (14 documents)

Export disorders for CSF2RB 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 CSF2RB gene, integrated from 10 sources (see all 101):
(articles sorted by number of sources associating them with CSF2RB)

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

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)
An improved resolution structure of the human beta common receptor involved in IL-3, IL-5 and GM-CSF signalling which gives better definition of the high-affinity binding epitope. (PubMed id 16754968)^{1, 2, 9} Carr P.D.... Young I.G. (Acta Crystallogr. F 2006)
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. (PubMed id 22138694)^{1, 4} Lin Z....Gu J. (Nat. Genet. 2012)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. (PubMed id 19065143)^{1, 4} Moskvina V....O'Donovan M.C. (Mol. Psychiatry 2009)
High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)^{1, 4} Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. (PubMed id 18804346)^{1, 4} Edwards T.L....Chen X. (Schizophr. Res. 2008)
CBAP interacts with the un-liganded common beta-subunit of the GM- CSF/IL-3/IL-5 receptor and induces apoptosis via mitochondrial dysfunction. (PubMed id 17828305)^{1, 2} Kao C.J....Yen J.J. (Oncogene 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)
Polymorphisms in eosinophil pathway genes, asthma and atopy. (PubMed id 17362254)^{1, 4} Kabesch M....Nickel R. (Allergy 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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: 1439	HGNC: 2436	AceView: CSF2RB	Ensembl:ENSG00000100368	euGenes: HUgn1439
ECgene: CSF2RB	Kegg: 1439	H-InvDB: CSF2RB

(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 CSF2RB	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CSF2RB	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CSF2RB 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 CSF2RB gene:
Search GeneIP for patents involving CSF2RB

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, eBioscience, antibodies-online, 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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