InnateDB Protein
|
IDBP-39418.7
|
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
|
ENSP00000370911
|
InnateDB Gene
|
IDBG-39400 (CSF2RA)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR003961
Fibronectin, type III
IPR015321
Interleukin-6 receptor alpha, binding
|
PFAM |
PF00041
PF01108
PF09240
|
PRINTS |
|
PIRSF |
|
SMART |
SM00060
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P15509
|
PhosphoSite |
PhosphoSite-P15509
|
TrEMBL |
J3JS74
|
UniProt Splice Variant |
|
Entrez Gene |
1438
|
UniGene |
Hs.520937
|
RefSeq |
NP_758450
|
HUGO |
HGNC:2435
|
OMIM |
425000
|
CCDS |
CCDS35192
|
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
|
|
|