PLEKHG3 (pleckstrin homology and RhoGEF domain containing G3)

2014-11-01  

Identity

HGNC
PLEKHG3
LOCATION
14q23.3
LOCUSID
26030
ALIAS
ARHGEF43,KIAA0599
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26030
MIM: 617940
HGNC: 20364
Ensembl: ENSG00000126822

Variants:

dbSNP: 26030
ClinVar: 26030
TCGA: ENSG00000126822
COSMIC: PLEKHG3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126822ENST00000247226A1L390
ENSG00000126822ENST00000247226A0A2X0SFH4
ENSG00000126822ENST00000394691A1L390
ENSG00000126822ENST00000471182A1L390
ENSG00000126822ENST00000484731G3V311
ENSG00000126822ENST00000554088G3V2V2
ENSG00000126822ENST00000554499G3V3I3
ENSG00000126822ENST00000555982G3V278
ENSG00000126822ENST00000634379A0A0U1RR71

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
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
213608292011A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.12
275555882016PLEKHG3 enhances polarized cell migration by activating actin filaments at the cell front.11

Citation

Dessen P

PLEKHG3 (pleckstrin homology and RhoGEF domain containing G3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71979/plekhg3