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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CSF3R Gene

protein-coding GIFtS: 65
GCID: GC01M036931

colony stimulating factor 3 receptor (granulocyte)

(Previous symbol: CD114)

Explore 47 diseases affiliated with
CSF3R via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Colony Stimulating Factor 3 Receptor (Granulocyte)¹ ²		CD114 Antigen² ³
GCSFR¹ ² ³ ⁵		G-CSF Receptor² ³
CD114¹ ²		Granulocyte Colony-Stimulating Factor Receptor²
G-CSF-R² ³

External Ids:	HGNC: 2439¹	Entrez Gene: 1441²	Ensembl: ENSG00000119535⁷	OMIM: 138971⁵	UniProtKB: Q99062³

Export aliases for CSF3R gene to outside databases

Previous GC identifers: GC01M036753 GC01M035986 GC01M036359 GC01M036600 GC01M036704 GC01M035048

(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 CSF3R:

The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the

production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of

cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced

transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe

congenital neutropenia. (provided by RefSeq, Aug 2010)

UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062

Function: Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a

crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition

it may function in some adhesion or recognition events at the cell surface

Gene Wiki entry for CSF3R (Granulocyte colony-stimulating factor receptor)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CSF3R gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CSF3R promoter sequence

Search SABiosciences Chromatin IP Primers for CSF3R

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSF3R

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

Entrez Gene cytogenetic band: 1p35-p34.3 Ensembl cytogenetic band: 1p34.3 HGNC cytogenetic band: 1p35-p34.3

CSF3R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSF3R gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M036931: view genomic region (about GC identifiers)

Start:	36,931,644 bp from pter	End:	36,948,915 bp from pter
Size:	17,272 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062 (See protein sequence)

Recommended Name: Granulocyte colony-stimulating factor receptor precursor

Size: 836 amino acids; 92156 Da

Subunit: Homodimer. The dimeric receptor binds two CSF3 molecules

Subcellular location: Isoform 2: Secreted (Probable)

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

Miscellaneous: Mutations in CSF3R acquired in multipotent hematopoietic progenitor cells and resulting in truncated

hyper-responsive forms of the receptor, have been identified in most cases of severe congenital neutropenia (SCN).

Patients carrying these mutations are at risk for developing myelodysplastic syndromes and/or acute myeloid leukemia.

Constitutive mutations leading to hyporesponsive forms of the receptor are responsible for the refractoriness to CSF3

treatment observed in some SCN patients

2 PDB 3D structures from and Proteopedia for CSF3R:

1AZ7 (3D)

2D9Q (3D)

Alternative splicing: 4 isoforms: Q99062-1 Q99062-2 Q99062-3 Q99062-4

Explore the universe of human proteins at neXtProt for CSF3R: NX_Q99062

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q99062

CSF3R Protein expression data from MOPED and PaxDb: --

REFSEQ proteins (3 alternative transcripts):

NP_000751.1 NP_724781.1 NP_758519.1

ENSEMBL proteins:

ENSP00000362198 ENSP00000362196 ENSP00000362195 ENSP00000435218 ENSP00000431639

ENSP00000332180 ENSP00000355406 ENSP00000401588 ENSP00000397568 ENSP00000345013

Human Recombinant Protein Products:

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	Novus Biologicals CSF3R Proteins Novus Biologicals CSF3R Lysates
	Sino Biological Recombinant Protein for CSF3R
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CSF3R

Gene Ontology (GO): 3 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:0005887	integral to plasma membrane	TAS	7542747
GO:0016020	membrane	--	--

CSF3R for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CSF3R

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CSF3R for domains About GeneDecksing

4 InterPro domains/families:

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR010457 IgC2-like_lig-bd

IPR003529 Hematopoietin_rcpt_Gp130_CS

Graphical View of Domain Structure for InterPro Entry Q99062

ProtoNet protein and cluster: Q99062

2 Blocks protein families:

IPB003529 Long hematopoietin receptor

IPB010457 Ig-like C2-type

UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062

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 2 subfamily

Similarity: Contains 5 fibronectin type-III domains

Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062

Function: Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a

crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition

it may function in some adhesion or recognition events at the cell surface

Genatlas biochemistry entry for CSF3R:

colony stimulating factor 3 (granulocyte) receptor,also expressed in endothelial cells,20-25kDa,with an extended form

expressed in the placenta and a soluble form

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF3R

Gene Ontology (GO): 2 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	7542747
GO:0004896	cytokine receptor activity	IEA	--

CSF3R for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CSF3R:

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-outs for CSF3R: Csf3r^tm2Eur Csf3r^tm1Link
3 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Csf3r):

cellular

hematopoietic system

immune system

CSF3R for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Akt Signaling

	Akt Signaling	1.00			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

PEDF Induced Signaling

STAT3 Pathway

0.47

Cytokine-cytokine receptor interaction

0.26

Selected targets of C/EBPalpha

Selected targets of C/EBPalpha

1.00

Pathways in cancer

Pathways in cancer

1.00

Hematopoietic cell lineage

Hematopoietic cell lineage

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CSF3R

Selected targets of C/EBPalpha

5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CSF3R (see all 6)

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

4 Kegg Pathways (Kegg details for CSF3R):

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

CSF3R for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CSF3R

5/24 Interacting proteins for CSF3R (Q99062^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
STAT3	P40763²^,³	MINT-8037913 MINT-8037928 MINT-8035782 MINT-8035767 I2D: score=3
UBC	P0CG48²^,³	MINT-4787430 MINT-4787410 I2D: score=2
GRB2	P62993³	I2D: score=4
HCK	P08631³	I2D: score=4
SHC1	P29353³	I2D: score=4

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006952	defense response	TAS	7542747
GO:0007155	cell adhesion	IEA	--
GO:0007165	signal transduction	NAS	1371413
GO:0030593	neutrophil chemotaxis	IEA	--
GO:0042475	odontogenesis of dentin-containing tooth	IEA	--

CSF3R for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CSF3R for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CSF3R

2 DrugBank Compounds for CSF3R About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Pegfilgrastim	G-CSF (see all 4)	208265-92-3	target	agonist	16033816 12944913 15082029 17127322 17001306 15949269
Filgrastim	G-CSF (see all 4)	143011-72-7	target	--	17127322 17001306 16033816 15949269 17494858

10/29 Novoseek chemical compound relationships for CSF3R gene (see all 29) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gp 130	68.8	24	8264582 (2), 10092661 (2), 8608222 (1), 11098061 (1) (see all 12)
filgrastim	61.4	13	16492764 (3), 10537111 (1), 11944966 (1), 12488547 (1) (see all 6)
tyrosine	61.2	93	7489718 (5), 16033816 (4), 9015216 (4), 8547634 (3) (see all 48)
phosphotyrosine	42.4	4	15470047 (1), 16493051 (1)
retinoic acid	32.1	6	14604978 (1), 7506564 (1), 7543855 (1), 11023524 (1) (see all 5)
methylcellulose	30.1	2	11911419 (1), 10848795 (1)
thymidine	22.8	3	9529133 (1), 10942233 (1), 9590146 (1)
nitroblue tetrazolium	13.2	2	10339483 (1)
imatinib	11.5	1	17453242 (1)
dmso	7.39	2	7506564 (1)

Search CenterWatch for drugs/clinical trials and news about CSF3R

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, 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 CSF3R gene (4 alternative transcripts):

NM_000760.3 NM_156039.3 NM_172313.2 NM_156038.2

Unigene Cluster for CSF3R:

Colony stimulating factor 3 receptor (granulocyte)

Hs.524517 [show with all ESTs]

Unigene Representative Sequence: NM_156039

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

ENST00000373106(uc001caw.2) ENST00000373104(uc001cav.2) ENST00000373103(uc001cax.2)

ENST00000480825 ENST00000464465 ENST00000487540 ENST00000484762 ENST00000466138

ENST00000464365 ENST00000469380 ENST00000526980 ENST00000489551 ENST00000533491

ENST00000331941 ENST00000361632 ENST00000418048 ENST00000440588 ENST00000338937

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Additional cDNA sequence:

AK307242.1 BC040954.1 BC053585.1 DQ424902.1 M59818.1 M59819.1 M59820.1 X55720.1

X55721.1

22 DOTS entries:

DT.95220087 DT.100846008 DT.451746 DT.100771102 DT.97837491 DT.100846007 DT.91906674 DT.92444513

DT.100706714 DT.100724927 DT.91762962 DT.95073863 DT.100845991 DT.215266 DT.100845989 DT.100846001

DT.95189922 DT.97818367 DT.91795491 DT.92444511 DT.95220114 DT.95220162

24/227 AceView cDNA sequences (see all 227):

BQ012336 CR610771 CF530034 CR612645 BM769186 BX397385 BC053585 BI058813

BE278866 AA458507 BQ013323 NM_000760 BQ706733 AA477494 BI058814 NM_172313

CB960322 BX380592 BX356400 M59818 CR612729 BQ010933 BC040954 AI219619

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for CSF3R (see all 11) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12a	·	12b	·	12c	^	13a	·	13b	^	14a	·	14b	^	15	^	16a	·	16b	·	16c	·	16d	^	17a	·
SP1:					-																												-										-				-		-
SP2:					-																												-
SP3:					-																												-										-
SP4:					-																												-				-		-				-
SP5:

ExUns:	17b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CSF3R

(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

CSF3R expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCCATCCAG

About this image

CSF3R expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Syncytiotrophoblast-like cells (Generation of syncyt...)

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Genevestigator expression for CSF3R

SOURCE GeneReport for Unigene cluster: Hs.524517

UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062

Tissue specificity: One or several isoforms have been found in myelogenous leukemia cell line KG-1, leukemia U-937 cell

line, in bone marrow cells, placenta, and peripheral blood granulocytes. Isoform GCSFR-2 is found only in leukemia

U-937 cells. Isoform GCSFR-3 is highly expressed in placenta

SABiosciences Expression via Pathway-Focused PCR Arrays including CSF3R:

Interferons & Receptors in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Allergy & Asthma in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF3R

(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 CSF3R gene from 3/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CSF3R¹	colony stimulating factor 3 receptor (granulocyte)	52.79(n) 39.14(a)		419620 NM_001030898.1 NP_001026069.1
lizard (Anolis carolinensis)	Reptilia	CSF3R⁶	--	33(a)	1 ↔ 1	GL343610.1(286781-306880)
zebrafish (Danio rerio)	Actinopterygii	csf3r¹	colony stimulating factor 3 receptor (granulocyte)	42.84(n) 30.41(a)		100134935 NM_001113377.1 NP_001106848.1

ENSEMBL Gene Tree for CSF3R (if available)
TreeFam Gene Tree for CSF3R (if available)

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

Paralogs for CSF3R gene

OSMR² IL6ST² IL31RA² IL27RA² LIFR² IL12RB2²

CSF3R for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918426^1,2	C,F,	pathogenic	47487231(-)	`GCTCAA/C/TCTGCC`	9	N T I	mis¹		1		NA	4484
rs3918003^1,2	C,F,H,	--	35047938(-)	`CTTAGG/AGCACA`	3	--	ds500¹		25		NS EA NA WA	2784
rs200559946^1,2	C	--	35048062(+)	`AGGAGA/GGNNNN`	3	--	ds500¹		0	--	--	--	--
rs114026540^1,2	C,F,	--	35049215(+)	`AGGGAG/AGTGAC`	3	--	int¹		1		WA	118
rs3918000^1,2	C,F,	--	35049661(-)	`TCCAGA/GTGGGC`	3	--	int¹		15		NS NA WA CSA	1917
rs3917999^1,2	C,F,	--	35049882(-)	`TGGTCG/AGAGGG`	3	--	int¹ trp³		12		NS NA WA EA	984
rs3917997^1,2	C,F,H	--	35050105(-)	`CCTCCC/TGTGGC`	6	R C	mis¹ ese³		10		NS EA NA	862
rs113846930^1,2	C	--	35050240(+)	`ACTCAG/CAGAAG`	3	--	spd¹		1		CSA	1
rs3917995^1,2	C,F,	--	35050677(-)	`AAATTC/TGGAGA`	3	--	int¹		3		NS WA	212
rs3917994^1,2	C,F,	--	35050689(-)	`AGGACC/TTGGCA`	3	--	int¹		3		NS WA	212

HapMap Linkage Disequilibrium report for CSF3R (36931644 - 36948915 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CSF3R: --
Human Gene Mutation Database (HGMD): CSF3R

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CSF3R

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CSF3R for disorders           About GeneDecksing

OMIM gene information: 138971
OMIM disorders: 162830
UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062

Defects in CSF3R are the cause of hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]. A form of lifelong,

persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood

20/47 diseases for CSF3R (see all 47): About MalaCards

severe congenital neutropenia neutropenia pulmonary alveolar proteinosis neutrophilia, hereditary

polycythemia vera chronic neutrophilic leukemia myeloid leukemia myeloproliferative disorder

monocytic leukemia leukemia polycythemia lymphoblastic leukemia

lymphocytic leukemia acute promyelocytic leukemia aplastic anemia diphtheria

myelodysplastic syndrome transitional cell carcinoma acute lymphoblastic leukemia chronic lymphocytic leukemia

2 diseases from the University of Copenhagen DISEASES database for CSF3R:

Neutropenia Leukemia

10/44 Novoseek disease relationships for CSF3R gene (see all 44) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neutropenia, severe congenital	94.1	49	11110716 (2), 9691084 (2), 9885206 (2), 9001427 (2) (see all 31)
neutropenia	64.1	41	18536571 (3), 19794089 (3), 11238134 (2), 12670333 (2) (see all 22)
leukemogenesis	63.6	14	18536571 (3), 8876234 (1), 19120359 (1), 16620545 (1) (see all 8)
kostmanns syndrome	63.1	1	15677477 (1)
leukemia	61.7	29	16670064 (3), 11238134 (2), 12670333 (2), 12475443 (2) (see all 19)
myelodysplastic syndromes	58.8	17	12670333 (2), 18637807 (2), 15370243 (2), 9548419 (2) (see all 10)
myeloid leukemia	54.5	9	1701353 (1), 7509213 (1), 9815618 (1), 12788061 (1) (see all 8)
pulmonary alveolar proteinosis	53.4	1	20040766 (1)
myeloproliferative disorders	41.4	1	19620628 (1)
leukemia promyelocytic acute	41.2	1	9590146 (1)

Genetic Association Database (GAD): CSF3R
Human Genome Epidemiology (HuGE) Navigator: CSF3R (11 documents)

Export disorders for CSF3R 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)
About This Section

PubMed articles for CSF3R gene, integrated from 9 sources (see all 374):
(articles sorted by number of sources associating them with CSF3R)

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

Tyrosine 729 of the G-CSF receptor controls the duration of receptor signaling: involvement of SOCS3 and SOCS1. (PubMed id 16033816)^{1, 7, 9} Zhuang D....Dong F. (2005)
An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. (PubMed id 19620628)^{1, 2, 9} Plo I.... de Botton S. (2009)
Homodimeric cross-over structure of the human granulocyte colony- stimulating factor (GCSF) receptor signaling complex. (PubMed id 16492764)^{1, 2, 9} Tamada T....Kuroki R. (2006)
Identification of a nonsense mutation in the granulocyte-colony- stimulating factor receptor in severe congenital neutropenia. (PubMed id 7514305)^{1, 2, 9} Dong F.... Lowenberg B. (1994)
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. (PubMed id 17494858)^{1, 7} Link D.C....Ley T.J. (2007)
Novel role of WD40 and SOCS box protein-2 in steady-s tate distribution of granulocyte colony-stimulating factor receptor and G-CSF-c ontrolled proliferation and differentiation signaling. (PubMed id 17001306)^{1, 7} Erkeland S.J....Touw I.P. (2007)
A functional single-nucleotide polymorphism of the G- CSF receptor gene predisposes individuals to high-risk myelodysplastic syndrome . (PubMed id 15644419)^{1, 4} WAPlfler A....Sill H. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Solution structure of an extracellular domain containing the WSxWS motif of the granulocyte colony-stimulating factor receptor and its interaction with ligand. (PubMed id 9187659)^{1, 2} Yamasaki K.... Ota Y. (1997)
Identification of a ligand-binding site on the granulocyte colony- stimulating factor receptor by molecular modeling and mutagenesis. (PubMed id 9368043)^{1, 2} Layton J.E.... Treutlein H.R. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 1441	HGNC: 2439	AceView: CSF3R	Ensembl:ENSG00000119535	euGenes: HUgn1441
ECgene: CSF3R	Kegg: 1441	H-InvDB: CSF3R

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CSF3R	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CSF3R	Genetics and Cytogenetics in Oncology and Haematology
SeattleSNPs	http://pga.gs.washington.edu/data/csf3r/

Intellectual Property for CSF3R 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 CSF3R gene:
Search GeneIP for patents involving CSF3R

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

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colony stimulating factor 3 receptor (granulocyte)

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CSF3R Gene

colony stimulating factor 3 receptor (granulocyte)

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