Annotation Details for CSF2RA

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Basic Information Top

Gene Symbol:	CSF2RA ( CD116,CDw116,CSF2R,CSF2RAX,CSF2RAY,CSF2RX,CSF2RY,GM-CSF-R-alpha,GMCSFR,GMR,MGC3848,MGC4838 )
Gene Full Name:	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
Band:	Xp22.32 and Yp11.3
Quick Links	Entrez ID:1438; OMIM: 306250,425000; Uniprot ID:CSF2R_HUMAN; ENSEMBL ID: ENSG00000198223; HGNC ID: 2435
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:4 results
Molecular Function:5 results
Biological Process:5 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005576	IEA	-	extracellular region	-
GO:0005622	IEA	-	intracellular	-
GO:0005886	TAS	-	plasma membrane	-
GO:0005887	TAS	-	integral component of plasma membrane	2555171

GO ID	Evidence	Qualifier	GO_term	References
GO:0004713	TAS	-	protein tyrosine kinase activity	-
GO:0004872	TAS	-	receptor activity	1358805
GO:0004896	IEA	-	cytokine receptor activity	-
GO:0005088	TAS	-	Ras guanyl-nucleotide exchange factor activity	-
GO:0005515	IPI	-	protein binding	25416956

GO ID	Evidence	Qualifier	GO_term	References
GO:0000165	TAS	-	MAPK cascade	-
GO:0018108	IEA	-	peptidyl-tyrosine phosphorylation	-
GO:0019221	IEA	-	cytokine-mediated signaling pathway	-
GO:0043547	IEA	-	positive regulation of GTPase activity	-
GO:0044267	TAS	-	cellular protein metabolic process	-

Protein-Protein Interaction

BioGRID:6 results
BIND:0 results
HPRD:0 results

Gene Symbol	Interactant	Interaction ID	References	Description
CSF2RA	CSF2	107824	7957082	Reconstituted Complex
CSF2RA	CSF2	107825	7957082	Reconstituted Complex
SDC2	CSF2RA	107825	10734053	Affinity Capture-Western
SDC2	CSF2RA	112285	10734053	Affinity Capture-Western
PIK3R1	CSF2RA	107825	12538575	Affinity Capture-Western
PIK3R1	CSF2RA	111313	12538575	Affinity Capture-Western

AlzGene, PDGene and SZGene

Alz Gene:0 results
PD Gene:0 results
SZ Gene:1 results

Gene Symbol	Poly Names	Gene overview in SZGene
CSF2RA	rs28414810, rs28694718, rs4129148	Gene overview in SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1339754
Data Attributes: HomoloGene calculated

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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