Entity Details

Primary name PLEKHG2
Entity type gene
Source Source Link

Details

PrimaryID64857
RefseqGeneNG_054904
SymbolPLEKHG2
Namepleckstrin homology and RhoGEF domain containing G2
Chromosome19
Location19q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-02-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPKHG2_HUMAN

GO terms

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GOName
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005829 cytosol
GO:0007186 G protein-coupled receptor signaling pathway
GO:0030833 regulation of actin filament polymerization
GO:0043065 positive regulation of apoptotic process
GO:0051056 regulation of small GTPase mediated signal transduction

Diseases

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Disease IDSourceNameDescription
616763 OMIMLeukodystrophy 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. The disease is caused by variants affecting the gene represented in this entry.