PLEKHG2 gene

pleckstrin homology and RhoGEF domain containing G2

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

From NCBI Gene:

The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]

From UniProt:

May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein) (PubMed:18045877). Involved in the regulation of actin polymerization (PubMed:26573021).

From NCBI Gene:

  • Leukodystrophy and acquired microcephaly with or without dystonia

From UniProt:

Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD): An autosomal recessive neurologic disorder characterized by profound mental retardation, dystonia, postnatal microcephaly, and white matter abnormalities consistent with leukodystrophy. [MIM:616763]

Cytogenetic Location: 19q13.2, which is the long (q) arm of chromosome 19 at position 13.2

Molecular Location: base pairs 39,412,582 to 39,428,415 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.2, which is the long (q) arm of chromosome 19 at position 13.2
  • ARHGEF42
  • CLG
  • CTB-60E11.4
  • LDAMD