RBCC Red Blood Cell Collection

CSF2R_HUMAN

Source: BD_CD
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: CSF2RA , CSF2R, CSF2RY
Protein names and data: CSF2R_HUMAN , Granulocyte-macrophage colony-stimulating factor receptor subunit alpha; GM-CSF-R-alpha; GMCSFR-alpha; GMR-alpha , CDw116; CD116; Flags: Precursor Lenght: 400 a.a.
Mass: 46207 Da
fasta formatted sequence
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.
Disease: ( OMIM: 300770 306250 425000 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Single-pass type I membrane protein. Isoform 3: Secreted (Probable). Isoform 4: Secreted (Probable). Isoform 6: Secreted (Probable).

Genetic variants

196 - 196 G -> R (in SMDP4). VAR_058507

Database cross-references

UniProt: P15509
Ensembl: ENST00000355432
Ensembl: ENST00000355805
Ensembl: ENST00000361536
Ensembl: ENST00000381500
Ensembl: ENST00000381509
Ensembl: ENST00000381524
Ensembl: ENST00000381529
Ensembl: ENST00000417535
Ensembl: ENST00000432318
Ensembl: ENST00000501036
MIM: 300770
MIM: 306250
MIM: 425000
neXtProt: NX_P15509
Antibodypedia: P15509 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2