CSF3R gene

colony stimulating factor 3 receptor

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

From NCBI Gene:

The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]

From UniProt:

Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Hereditary neutrophilia
  • Neutropenia, severe congenital, 7, autosomal recessive

From UniProt:

Neutropenia, severe congenital 7, autosomal recessive (SCN7): A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. [MIM:617014]

Hereditary neutrophilia (NEUTROPHILIA): A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood. [MIM:162830]

Cytogenetic Location: 1p34.3, which is the short (p) arm of chromosome 1 at position 34.3

Molecular Location: base pairs 36,466,043 to 36,483,314 on chromosome 1 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 1p34.3, which is the short (p) arm of chromosome 1 at position 34.3
  • CD114
  • SCN7