Disease-gene associations mined from literature

Literature associating CXCR4 and neutropenia

CXCR4 [ENSP00000386884]

Leukocyte-derived seven transmembrane domain receptor; Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation. Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels. Involved in hematopoiesis and in cardiac ventricular septum formation. Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival.

Synonyms:  CXCR4,  CXCR4p,  hCXCR4,  P61073,  Q5MIL4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM