Pleckstrin Homology Domain- and RhoGEF Domain-Containing Protein G2

Alternative Names

PLEKHG2
Pleckstrin Homology Domain-Containing Protein, Family G, Member 2
CLG

Length

15,747 bases

No. of Exons

No. of isoforms

Protein Name

Pleckstrin homology domain-containing family G member 2

Molecular Mass

147969 Da

Amino Acid Count

1386

Genomic Location

chr19:39,412,669-39,428,415

Gene Map Locus

19q13.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

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Search:

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_022835.3:c.1708G>A	Saudi Arabia	NC_000019.10:g.39422762G>A	Likely Pathogenic, Uncertain Significance	Uncertain Significance	Leukodystrophy and Acquired Microcephaly with or without Dystonia	NG_054904.2:g.20917G>A; NM_022835.3:c.1708G>A; NP_073746.2:p.Gly570Arg	370673772	402163

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG2

Contributors

Asha Deepthi: 15.04.2025

Edit History

Asha Deepthi: 15.04.2025

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