PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLEKHG2provided by HGNC
Official Full Name: pleckstrin homology and RhoGEF domain containing G2provided by HGNC
Primary source: HGNC:HGNC:29515
See related: Ensembl:ENSG00000090924 MIM:611893; AllianceGenome:HGNC:29515
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CLG; LDAMD; ARHGEF42; CTB-60E11.4
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]
Expression: Ubiquitous expression in endometrium (RPKM 7.0), appendix (RPKM 6.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (39412669..39428415)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (42216931..42232678)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (39903309..39919055)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

results suggest that FHL1A specifically interacts with PLEKHG2 to regulate a function of PLEKHG2 that is modified by the interaction of Gbetagamma and Galphas.
Title: Specific activation of PLEKHG2-induced serum response element-dependent gene transcription by four-and-a-half LIM domains (FHL) 1, but not FHL2 or FHL3.
This is the first report to show that PLEKHG2 is a novel effector of Galphas, and is negatively regulated by the Galphas subunit through direct interaction.
Title: Heterotrimeric G protein Gαs subunit attenuates PLEKHG2, a Rho family-specific guanine nucleotide exchange factor, by direct interaction.
results provide evidence that FHL1A interacts with PLEKHG2 and regulates cell morphological change through the activity of PLEKHG2.
Title: Four-and-a-half LIM Domains 1 (FHL1) Protein Interacts with the Rho Guanine Nucleotide Exchange Factor PLEKHG2/FLJ00018 and Regulates Cell Morphogenesis.
Role of PLEKHG2 in actin polymerization and clinical and radiological findings in PLEKHG2 deficiency.
Title: Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.
Autoantibodies binding to Plekhg2 were found in 19 of 29 patients (66%) with active mycobacterial infections.
Title: Autoantibodies binding to ubiquitin-fold modifier-conjugating enzyme 1 (Ufc1) and pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (Plekhg2) are associated with mycobacterial infections.
The tyrosine phosphorylation of PLEKHG2 plays an important role in EphB2 signaling, which is closely related to cell growth and the proliferation of tumor.
Title: PLEKHG2/FLJ00018, a Rho family-specific guanine nucleotide exchange factor, is tyrosine phosphorylated via the EphB2/cSrc signaling pathway.
results provide evidence that stimulation of the Ras/MAPK pathway by EGFR results in FLJ00018 phosphorylation at Thr-680, which in turn controls changes in cell shape.
Title: Threonine 680 phosphorylation of FLJ00018/PLEKHG2, a Rho family-specific guanine nucleotide exchange factor, by epidermal growth factor receptor signaling regulates cell morphology of Neuro-2a cells.
PLEKHG2 may serve as a key Gbeta-gamma-stimulated RhoGEF that regulates lymphocyte chemotaxis via Rac and Cdc42 activation and actin polymerization.
Title: PLEKHG2 promotes heterotrimeric G protein βγ-stimulated lymphocyte migration via Rac and Cdc42 activation and actin polymerization.
These results suggest that FLJ00018 is targeted via its pleckstrin homology domain to cellular membranes.
Title: The importance of interaction with membrane lipids through the pleckstrin homology domain of the guanine nucleotide exchange factor for rho family small guanosine triphosphatase, FLJ00018.
The binding of Rho family specific guanine nucleotide exchange factor(FLJ00018), at least two actin binding regions of FLJ00018, and actin negatively regulates for FLJ00018 function.
Title: Identification of a Rho family specific guanine nucleotide exchange factor, FLJ00018, as a novel actin-binding protein.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leukodystrophy and acquired microcephaly with or without dystonia; MedGen: C4225213 OMIM: 616763 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

MARC_16805-16806:1042838652:1 (e-PCR)
- UniSTS:268125

RH79802 (e-PCR)
- UniSTS:88688

D1S1425 (e-PCR)
- UniSTS:149621

RH36905 (e-PCR)
- UniSTS:87932

D11S3732 (e-PCR)
- UniSTS:152962

Clone Names

FLJ00018, FLJ22458, FLJ38638, DKFZp667J2325

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin filament polymerization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: pleckstrin homology domain-containing family G member 2

Names: PH domain-containing family G member 2; common-site lymphoma/leukemia guanine nucleotide exchange factor; pleckstrin homology domain containing, family G (with RhoGef domain) member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_054904.2 RefSeqGene

Range

10824..26570

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001351693.2 → NP_001338622.1 pleckstrin homology domain-containing family G member 2 isoform 2

Status: REVIEWED

Source sequence(s)

AC011500

Consensus CDS

CCDS86767.1

UniProtKB/TrEMBL

B4DYK2, E7ESZ3

Related

ENSP00000408857.2, ENST00000458508.6

Conserved Domains (3) summary

cd13243
Location:204 → 354

PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain

pfam00621
Location:47 → 222

RhoGEF; RhoGEF domain

cl26464
Location:384 → 845

Atrophin-1; Atrophin-1 family
NM_001351694.2 → NP_001338623.1 pleckstrin homology domain-containing family G member 2 isoform 3

Status: REVIEWED

Source sequence(s)

AC011500

Consensus CDS

CCDS86766.1

Related

ENSP00000386492.1, ENST00000409797.6

Conserved Domains (2) summary

cd13243
Location:263 → 413

PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain

pfam00621
Location:106 → 281

RhoGEF; RhoGEF domain
NM_022835.3 → NP_073746.2 pleckstrin homology domain-containing family G member 2 isoform 1

See identical proteins and their annotated locations for NP_073746.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC011500, AK024429, AK095957

Consensus CDS

CCDS33022.2

UniProtKB/Swiss-Prot

B8ZZK6, C9J0Y4, Q6DHV6, Q96BU2, Q96D18, Q9H699, Q9H7P9

UniProtKB/TrEMBL

H7BXC7

Related

ENSP00000392906.2, ENST00000425673.6

Conserved Domains (3) summary

cd13243
Location:263 → 413

PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain

pfam00169
Location:337 → 409

PH; PH domain

pfam00621
Location:106 → 282

RhoGEF; RhoGEF domain