PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5)

2021-06-01  

Identity

HGNC
PLEKHG5
LOCATION
1p36.31
LOCUSID
57449
ALIAS
CMTRIC,DSMA4,GEF720,Syx,Tech

Other Information

Locus ID:

NCBI: 57449
MIM: 611101
HGNC: 29105
Ensembl: ENSG00000171680

Variants:

dbSNP: 57449
ClinVar: 57449
TCGA: ENSG00000171680
COSMIC: PLEKHG5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171680ENST00000340850O94827
ENSG00000171680ENST00000377725O94827
ENSG00000171680ENST00000377728O94827
ENSG00000171680ENST00000377732O94827
ENSG00000171680ENST00000377740Q5SY18
ENSG00000171680ENST00000377748O94827
ENSG00000171680ENST00000400913O94827
ENSG00000171680ENST00000400915O94827
ENSG00000171680ENST00000535355O94827
ENSG00000171680ENST00000537245O94827

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Pathways in cancerKEGGhsa05200
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRAGE signals death through JNKREACTOMER-HSA-193648
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (12/13) signalling eventsREACTOMER-HSA-416482

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
175649642007The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.33
241260532013The Rho guanine nucleotide exchange factor Syx regulates the balance of dia and ROCK activities to promote polarized-cancer-cell migration.12
233355142013Phosphorylation-mediated 14-3-3 protein binding regulates the function of the rho-specific guanine nucleotide exchange factor (RhoGEF) Syx.7
238446772013Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.7
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6
237776312013PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.6
313093832019PLEKHG5 is a novel prognostic biomarker in glioma patients.1

Citation

Dessen P

PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58298/plekhg5