Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Aliasesfor CSF2RA gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
10 fRNAdb ,
12 H-InvDB ,
13 NCBI ,
14 NONCODE ,
and/or 15 RNAdb )About This Section Subcategory (RNA class): lncRNAQuality 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: 2435 1 Entrez Gene: 1438 2 Ensembl: ENSG00000198223 7 OMIM: 306250 5 UniProtKB: P15509 3 Export aliases for CSF2RA gene to outside databases Previous GC identifers: GC00U990072 GC0YU900008 GC0YM001355 GC0XM001355
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Summariesfor CSF2RA gene (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 factor2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. Theencoded 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 forthis gene, with some of the isoforms being membrane-bound and others being soluble. (provided by RefSeq, Jul2008) 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 csf2ra-related pulmonary surfactant metabolism dysfunction 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 thatresults in the proliferation, differentiation, and functional activation of hematopoietic cells Gene Wiki entry for CSF2RA (Granulocyte macrophage colony-stimulating factor receptor) Gene
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Viewsfor CSF2RA gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,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 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
Entrez Gene Ensembl 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 : Chr Y+ 1,337,693-1,378,828
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Proteinsfor CSF2RA gene
(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 1 MOPED ,
2 PaxDb , and 3 MAXQB
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. ,
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: Size : 400 amino acids; 46207 DaSubunit : Heterodimer of an alpha and a beta subunit. The beta subunit is common to the IL3, IL5 and GM-CSFreceptors. The signaling GM-CSF receptor complex is a dodecamer of two head-to-head hexamers of two alpha, twobeta, and two ligand subunits
Subcellular location : Cell membrane; Single-pass type I membrane proteinSubcellular 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 Ychromosomes
Sequence caution : Sequence=AAA60962.1; Type=Miscellaneous discrepancy;1 PDB 3D structure from :3CXE (3D) Secondary accessions : A7J003 A8KAM1 B4DW68 J3JS76 J3JS77 O00207 Q14429 Q14430 Q14431 Q16564Alternative 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 2 3 : 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: Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view) : About this table
About GeneDecksing CSF2RA Antibody Products: Assay Products for CSF2RA:
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Protein
Domains /for CSF2RA gene (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 :
Graphical View of Domain Structure for InterPro Entry P15509 ProtoNet protein and cluster: P15509
1 Blocks protein domain : IPB003532 UniProtKB/Swiss-Prot: CSF2R_HUMAN, P15509 Domain : The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellulartransport and cell-surface receptor binding Domain : The box 1 motif is required for JAK interaction and/or activationSimilarity : Belongs to the type I cytokine receptor family. Type 5 subfamilyAbout GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Functionfor CSF2RA gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
genOway ,
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 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
Vector BioLabs ,
and Sirion Biotech ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
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 thatresults 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 activationof JAK2 and STAT5 (JAK/STAT pathway) Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
About GeneDecksing Animal Models: Cell Line GenScript Custom overexpressing Cell Line Services for CSF2RA Search LifeMap BioReagents cell lines for CSF2RA In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RA
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Pathways & Interactionsfor CSF2RA gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 1 PEDF Induced Signaling 2 Interleukin-3, 5 and GM-CSF signaling 3 Akt Signaling 4 Interferon Signaling 5 PAK Pathway
Pathways by source See SuperPaths Show all pathways 1 5/6 (see all 6 )5/6 (see all 6 )4 (Kegg details for CSF2RA) :About GeneDecksing Interactions: SABiosciences Gene Network CentralTM 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 ENSP00000370935 4 via UniProtKB, MINT, STRING , and/or I2D (see all 40 )About this table
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Drugs & Compoundsfor CSF2RA gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek ,
Ligands according to IUPHAR ,
and Drugs according to DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Browse Tocris compounds for CSF2RA (CSF2R) 1 DrugBank Compound for CSF2RA About this table 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 CSF2RA / CSF2R
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Transcriptsfor CSF2RA gene (Secondary structures according to
fRNAdb ,Unigene
(Build 236 Homo sapiens; Apr 25 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , KenesGroup ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Sirion Biotech ,
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 ) Primer CSF2RA human mouse SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat
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
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Expression for CSF2RA gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to 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 ,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) CSF2RA embryonic expression: see See probesets specificity/sensitivity at GeneAnnot About this image BioGPS 2/3 CGAP TAG: -- About this image
CSF2RA expression in embryonic tissues and stem cells About this table LifeMap ,
the Embryonic Development and Stem Cells Database 5/3 selected tissues (see all 3 ) fully expand 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 CSF2RA human mouse SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RA
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Orthologsfor CSF2RA gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for CSF2RA gene from 2/7 species (see all 7 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
mouse 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 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)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Paralogsfor CSF2RA gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CSF2RA gene IL3RA 2 1 SIMAP similar gene for CSF2RA using alignment to 5 protein entries: CSF2R_HUMAN (see all proteins ):IL3RA About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Variantsfor CSF2RA gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
4 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 Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr X pos Sequence # AA Type More # Allele Pop Total More
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 Human Gene Mutation Database (HGMD) : CSF2RA Locus Specific Mutation Databases (LSDB): CSF2RA SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing CSF2RA
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Disorders
/ Diseasesfor CSF2RA gene
(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 .)
About This Section 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 impairedsurfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positiveusing 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 iscaused by mutations affecting the gene represented in this entry 20/25 (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 About GeneDecksing 7 Novoseek inferred disease relationships for CSF2RA gene About this table
Genetic Association Database (GAD): CSF2RA Human Genome Epidemiology (HuGE) Navigator: CSF2RA (3 documents) Export disorders for CSF2RA gene to outside databases
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Publicationsfor CSF2RA gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section 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
Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. (PubMed id 17522711) 1 , 4, 7(2007) A functional isoform of the human granulocyte/macrophage colony- stimulating factor receptor has an unusual cytoplasmic domain. (PubMed id 1715577) 1 , 2 , 9(1991) Association between interleukin-3 receptor alpha polymorphism and schizophrenia in the Chinese population. (PubMed id 18547720) 1 , 4, 9(2008) Discovery and characterization of a novel splice variant of the GM-CSF receptor alpha subunit. (PubMed id 17681666) 1 , 2 , 9(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(2006) Identification and molecular cloning of a soluble human granulocyte- macrophage colony-stimulating factor receptor. (PubMed id 1832774) 1 , 2 , 9(1991) A family-based study of the IL3RA gene on susceptibility to schizophrenia in a Chinese Han population. (PubMed id 19281803) 1 , 4, 9(2009) Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. (PubMed id 18955567) 1 , 2 (2008) The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation. (PubMed id 18692472) 1 , 2 (2008) Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. (PubMed id 18955570) 1 , 2 (2008)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
External Searches for CSF2RA gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genome Databases showing CSF2RA gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Other Databases showing CSF2RA gene
(According to HUGE )
About This Section --
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Specialized Databases showing CSF2RA gene (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
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
About This Section Patent Information for CSF2RA gene: CSF2RA GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Productsfor CSF2RA gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Cloud-Clone Corp. , Thermo Fisher Scientific , LSBio , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Sirion Biotech , Cell lines from GenScript , and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory ,
genOway )About This Section
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CSF2RA QIAGEN SeqTarget long-range PCR primers for resequencing CSF2RA QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSF2RA QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RA
ThermoFisher Antibodies for CSF2RA
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CSF2RA
LSBio Antibodies in human mouse rat
Jump to Section...
Aliases for CSF2RA
Databases for CSF2RA
Disorders / Diseases for CSF2RA
Domains / Families for CSF2RA
Drugs / Compounds for CSF2RA
Expression for CSF2RA
Function for CSF2RA
Genomic Views for CSF2RA
Intellectual Property for CSF2RA
Orthologs for CSF2RA
Paralogs for CSF2RA
Pathways / Interactions for CSF2RA
Products for CSF2RA
Proteins for CSF2RA
Publications for CSF2RA
Search Box for CSF2RA
Summaries for CSF2RA
Transcripts for CSF2RA
Variants for CSF2RA
TOP
BOTTOM
GeneCards Homepage -
Last full update: 23 Oct 2013 -
Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014
View Random Gene
Category
Protein-coding
RNA genes
Genetic Loci
Pseudogenes
Gene clusters
Uncategorized
Any
Go
transforming growth factor, beta 1
GIFtS Group
High
Medium
Low
Any
Developed at the Crown Human Genome Center Department of Molecular Genetics
the Weizmann Institute of Science
Copyright © 1996-2014
, Weizmann Institute of Science. All Rights Reserved.
hostname: 356977-web1.xennexinc.com
index build: 106 solr: 1.4
and Proteopedia 
for CSF2RA:
Browse Tocris compounds for 
