CSF2RA

Domain

The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.

The box 1 motif is required for JAK interaction and/or activation.

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.

Involvement in disease

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the type I cytokine receptor family. Type 5 subfamily.

Cellular localization

• Cell membrane
• Single-pass type I membrane protein
• Isoform 3
• Secreted
• Isoform 4
• Secreted
• Isoform 6
• Secreted

Alternative names

CD116, CSF2R, CSF2RY, CSF2RA, Granulocyte-macrophage colony-stimulating factor receptor subunit alpha, GM-CSF-R-alpha, GMCSFR-alpha, GMR-alpha, CDw116

Database links

swissprot:P15509 omim:306250 entrezGene:1438

Other research areas

• Immuno-oncology