Homo sapiens Protein: CSF2RA
Summary
InnateDB Protein IDBP-39402.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CSF2RA
Protein Name colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
Synonyms CD116; CDw116; CSF2R; CSF2RAX; CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR; GMR; SMDP4;
Species Homo sapiens
Ensembl Protein ENSP00000370940
InnateDB Gene IDBG-39400 (CSF2RA)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Cell membrane; Single-pass type I membrane protein.Isoform 3: Secreted {ECO:0000305}.Isoform 4: Secreted {ECO:0000305}.Isoform 6: Secreted {ECO:0000305}.
Disease Associations 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. {ECO:0000269PubMed:18955567, ECO:0000269PubMed:18955570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004872 receptor activity
GO:0004896 cytokine receptor activity
GO:0005515 protein binding
Biological Process
GO:0019221 cytokine-mediated signaling pathway
Cellular Component
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR003961 Fibronectin, type III
IPR015321 Interleukin-6 receptor alpha, binding
PFAM PF00041
PF01108
PF09240
PRINTS
PIRSF
SMART SM00060
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P15509
PhosphoSite PhosphoSite-P15509
TrEMBL J3JS74
UniProt Splice Variant
Entrez Gene 1438
UniGene Hs.520937
RefSeq NP_758448
HUGO HGNC:2435
OMIM 425000
CCDS CCDS35191
HPRD 02381
IMGT
EMBL AK293086 AK301395 BC002635 BC071835 BX649553 D26628 DQ841258 L29348 L29349 M64445 M73832 U93096 X17648 X54935
GenPept AAA35908 AAA35909 AAA60961 AAA60962 AAB51535 AAH02635 AAH71835 ABI32309 BAA05656 BAF85775 BAG62930 CAA35638 CAA38697 CAI95727