RAC2 gene

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)

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

From NCBI Gene:

This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]

From UniProt:

Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase.

From NCBI Gene:

  • Neutrophil immunodeficiency syndrome

From UniProt:

Neutrophil immunodeficiency syndrome (NEUID): An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing. [MIM:608203]

Cytogenetic Location: 22q13.1, which is the long (q) arm of chromosome 22 at position 13.1

Molecular Location: base pairs 37,225,261 to 37,244,299 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.1, which is the long (q) arm of chromosome 22 at position 13.1
  • EN-7
  • Gx
  • HSPC022
  • p21-Rac2