Property Summary

NCBI Gene PubMed Count 16
Grant Count 217
R01 Count 16
Funding $129,444,309.58
PubMed Score 154.67
PubTator Score 65.68

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
breast carcinoma -1.400 0.000

Gene

 GWAS Trait (1)

Gene RIF (6)

PMID Text
24126053 Recruitment of Syx to the cell membrane, the selective activation of Dia1 signaling, coupled with the suppression of ROCK and actin reorganization, plays a key role in establishing cell polarity during directed cell migration.
23844677 This study identifies compound heterozygous PLEKHG5 mutations as the cause of recessive intermediate Charcot-Marie-Tooth disease.
23777631 Results indicate that different mutations in PLEKHG5 lead to clinically diverse outcomes Charcot-Marie-Tooth disease or lower motor neuron disease affecting the function of neurons and glial cells.
23335514 a novel means of regulating junctional Syx localization and function by phosphorylation-induced 14-3-3 binding and further support the importance of Syx function in maintaining stable cell-cell contacts.
19773279 Observational study of gene-disease association. (HuGE Navigator)
17564964 We identified a homozygous missense mutation (c.1940 T-->C [p.647 Phe-->Ser]) of the Pleckstrin homology domain-containing, family G member 5 gene, PLEKHG5, in families with lower motor neuron disease.

AA Sequence

MDDQSPAEKKGLRCQNPACMDKGRAAKVCHHADCQQLHRRGPLNLCEACDSKFHSTMHYDGHVRFDLPPQ      1 - 70
GSVLARNVSTRSCPPRTSPAVDLEEEEEESSVDGKGDRKSTGLKLSKKKARRRHTDDPSKECFTLKFDLN     71 - 140
VDIETEIVPAMKKKSLGEVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAPAKPGDE    141 - 210
GKVEQGMKDSKSLSLPILRPAGTGPPALERVDAQSRRESLDILAPGRRRKNMSEFLGEASIPGQEPPTPS    211 - 280
SCSLPSGSSGSTNTGDSWKNRAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRF    281 - 350
DHDSWEEEYDEDEDEDNACLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLC    351 - 420
CLLNLQESGLLCEVEAERLFSNIPEIAQLHRRLWASVMAPVLEKARRTRALLQPGDFLKGFKMFGSLFKP    421 - 490
YIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKHPQCQRLKLSDMLAKPHQRLTKYPLLLKSVLRKTEE    491 - 560
PRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSRIDAYEVVESSSDEVDKLLKEFLHLDLTAPI    561 - 630
PGASPEETRQLLLEGSLRMKEGKDSKMDVYCFLFTDLLLVTKAVKKAERTRVIRPPLLVDKIVCRELRDP    631 - 700
GSFLLIYLNEFHSAVGAYTFQASGQALCRGWVDTIYNAQNQLQQLRAQEPPGSQQPLQSLEEEEDEQEEE    701 - 770
EEEEEEEEEGEDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDTLSSPEFDSGPFSSQS    771 - 840
DETSLSTTASSATPTSELLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAPESPRVPSPPP    841 - 910
SPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSRSLSELCLAVPAPGIRTQGSPQEAG    911 - 980
PSWDCRGAPSPGSGPGLVGCLAGEPAGSHRKRCGDLPSGASPRVQPEPPPGVSAQHRKLTLAQLYRIRTT    981 - 1050
LLLNSTLTASEV                                                             1051 - 1062
//

Text Mined References (20)

PMID Year Title
24126053 2013 The Rho guanine nucleotide exchange factor Syx regulates the balance of dia and ROCK activities to promote polarized-cancer-cell migration.
23844677 2013 Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
23777631 2013 PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
23335514 2013 Phosphorylation-mediated 14-3-3 protein binding regulates the function of the rho-specific guanine nucleotide exchange factor (RhoGEF) Syx.
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
19305408 2009 Common variants at ten loci influence QT interval duration in the QTGEN Study.
17564964 2007 The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16467373 2006 A PDZ-binding motif as a critical determinant of Rho guanine exchange factor function and cell phenotype.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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