PLEKHG2 - pleckstrin homology and RhoGEF domain containing G2 Gene

Homo sapiens

Also known as CLG; LDAMD; ARHGEF42; CTB-60E11.4

Gene ID: 64857 | Gene type: protein coding

About PLEKHG2

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:39,406,847-39,428,415 (from NCBI)

This gene has 16 transcripts (splice variants), 87 orthologues, 22 paralogues and is associated with 1 phenotype. Ubiquitous expression in endometrium (RPKM 7.0), appendix (RPKM 6.7) and 25 other tissues.

Summary

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]

PLEKHG2 Products(3)

mRNA	Protein	Name
NM_001351693.2	NP_001338622.1	pleckstrin homology domain-containing family G member 2 isoform 2
NM_001351694.2	NP_001338623.1	pleckstrin homology domain-containing family G member 2 isoform 3
NM_022835.3	NP_073746.2	pleckstrin homology domain-containing family G member 2 isoform 1

PLEKHG2 Protein Structure

RhoGEF

0
300
600
900
1200
1357 a.a.

Protein Preferred Names

Protein Names

pleckstrin homology domain-containing family G member 2

PH domain-containing family G member 2

Related Diseases

Diseases

Alias

Leukodystrophy And Acquired Microcephaly With Or Without Dystonia

LDAMD	Leukodystrophy And Acquired Microcephaly With Or Without Dystonia

Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome	SCDO1
Vertebral Anomalies	Spondylothoracic Dysplasia
Costovertebral Dysplasia	Spondylothoracic Dysostosis
Spondylocostal Dysostosis 1	Autosomal Recessive Spondylocostal Dysostosis 1
Spondylocostal Dysostosis, Autosomal Recessive, 1	Doid:0112365
Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Leukodystrophy

Leukodystrophies

Aarskog-Scott Syndrome

Aarskog Syndrome	Faciogenital Dysplasia
Faciodigitogenital Syndrome	AAS
Fgdy	X-Linked Aarskog Syndrome
Intellectual Developmental Disorder, X-Linked, Syndromic 16	Aarskog Syndrome, X-Linked
Intellectual Developmental Disorder, X-Linked Syndromic 16	Greig'S Syndrome
Aarskog Scott Syndrome	Aarskog Disease
Scott Aarskog Syndrome	Facio-Digito-Genital Dysplasia
Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder	Aarskog-Scott Syndrome ) Syndrome

Dyschromatosis Universalis Hereditaria

Duh

Atrophic Rhinitis

Rhinitis, Atrophic	Ozena
Rhinitis Sicca	Dry Rhinitis
Ozaena

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10690	PLEKHG2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLEKHG2	RGD	RGD:1310112
Felis catus	PLEKHG2	VGNC	VGNC:64227
Canis familiaris	PLEKHG2	VGNC	VGNC:44677
Macaca mulatta	PLEKHG2	VGNC	VGNC:76133
Bos taurus	PLEKHG2	VGNC	VGNC:33015
Mus musculus	PLEKHG2	MGD	MGI:2141874

Name
Email *

	Sorry, but the email address you supplied was invalid.