CSF2RA gene

colony stimulating factor 2 receptor alpha subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded 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 for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]

From UniProt:

Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.

Covered on Genetics Home Reference:

From UniProt:

Pulmonary surfactant metabolism dysfunction 4 (SMDP4): 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. [MIM:300770]

Cytogenetic Location: Xp22.32 and Yp11.3, which is the short (p) arm of the X chromosome at position 22.32 and the short (p) arm of the Y chromosome at position 11.3

Molecular Location: base pairs 1,268,800 to 1,325,097 on chromosomes X and Y (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp22.32 and Yp11.3, which is the short (p) arm of the X chromosome at position 22.32 and the short (p) arm of the Y chromosome at position 11.3
  • CD116
  • CDw116
  • CSF2R
  • CSF2RAX
  • CSF2RAY
  • CSF2RX
  • CSF2RY
  • GM-CSF-R-alpha
  • GMCSFR
  • GMR
  • SMDP4