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FLASH GENE

Symbol

PLEKHG5

contributors: mct - updated : 04-06-2016

HGNC name	pleckstrin homology domain containing, family G (with RhoGef domain) member 5
HGNC id	29105

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LMND2 lower motor neuron disease 2 RICMTC Charcot-Marie-Tooth disease, recessive intermediate C
Location	1p36.31      Physical location : 6.526.151 - 6.580.069
Synonym name	novel PH domain-containing protein
	KIAA0720 protein
	brain specific RhoA exchange factor
	guanine nucleotide exchange factor 720
	putative NFkB activating protein
	PH domain-containing family G member 5
Synonym symbol(s)	KIAA0720, DSMA4, GEF720, RP4-650H14.3, SYX, Tech

DNA

TYPE	pseudogene
STRUCTURE	53.92 kb     22 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020631 21 - 4643 NP_065682 - 1006 - 2001 11704860 NM_198681 22 - 5221 NP_941374 - 1083 - 2001 11704860 NM_001042663 22 - 4761 NP_001036128 117.4 1062 - 2001 11704860 NM_001042664 21 - 4715 NP_001036129 - 1006 - 2001 11704860 NM_001042665 21 - 4698 NP_001036130 - 1006 - 2001 11704860

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly Lymphoid/Immune spleen       highly Nervous brain limbic system hippocampus   highly Homo sapiens   nerve spinal nerve     highly Respiratory respiratory tract larynx     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
	intracellular,nuclear envelope

basic FUNCTION	may play a role in regulating lymphocyte homeostasis
	activating RhoA and involved in the control of neuronal cell differentiation
	regulates RhoA signaling pathways in developing and mature forebrain neurons
	recruited to junctions by members of the Crumbs polarity complex and promoted junction integrity by activating Diaphanous
	importance of PLEKHG5 function in maintaining stable cell-cell contacts
	RHOA-specific guanine nucleotide exchange factor PLEKHG5 is required for the polarity of actively migrating brain and breast tumor cells (PMID
	recruitment of PLEKHG5 to the cell membrane and the subsequent selective activation of DIAPH1 signaling, coupled with the suppression of ROCK1 and activation of cofilin-mediated actin reorganization, plays a key role in establishing cell polarity during directed cell migration (PMID

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

AMOT forms a ternary complex together with INADL (or its paralogue MPDZ) and PLEKHG5

INTERACTION

DNA

RNA

small molecule

protein	interacts directly with the adapter TRADD
	RND3 effector that interacts with RNDs via a RAF1-like Ras-binding domain
	RND1, RND2, and RND3 stability is acutely dependent on interaction with their effectors such as PLEKHG5 or ARHGAP35
	VEGFA caused translocation of PLEKHG5 from cell junctions, promoting junction disassembly, whereas ANGPT1 maintained PLEKHG5 at the junctions, inducing junction stabilization
	binding of 14-3-3 proteins inhibits the GEF activity of PLEKHG5
	may interact with a variety of partners including multiple PDZ domain protein 1 [MUPP1 or MPDZ)
	function of PLEKHG5 is mediated by the selective activation of the RHOA downstream effector DIAPH1 (PMID
	VEGFA induced interactions between NRP1 and GIPC1, a scaffold protein, and complex formation between GIPC1 and PLEKHG5, a RhoGEF

cell & other

REGULATION

repressed by

RND3 (negatively regulates PLEKHG5, and that as a RhoA-GEF it plays a key role in early embryonic cell shape changes)

ASSOCIATED DISORDERS

corresponding disease(s)

LMND2 , RICMTC

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

syx(-/-) mice had defective junctions, resulting in vascular leakiness, edema, and impaired heart function