PLEKHG1 (pleckstrin homology and RhoGEF domain containing G1)

2014-11-01  

Identity

HGNC
PLEKHG1
LOCATION
6q25.1
LOCUSID
57480
ALIAS
ARHGEF41
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57480
HGNC: 20884
Ensembl: ENSG00000120278

Variants:

dbSNP: 57480
ClinVar: 57480
TCGA: ENSG00000120278
COSMIC: PLEKHG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120278ENST00000358517Q9ULL1
ENSG00000120278ENST00000358517Q5JYA6
ENSG00000120278ENST00000367326Q5T1F3
ENSG00000120278ENST00000475490H0YD71
ENSG00000120278ENST00000644913A0A2R8Y2B1
ENSG00000120278ENST00000644968Q9ULL1
ENSG00000120278ENST00000644968Q5JYA6

Expression (GTEx)

0
5
10
15
20
25
30
35
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
nasopharynx
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206410332011Polymorphisms in predicted miRNA binding sites and osteoporosis.33
191652322009Genome-wide association study of panic disorder in the Japanese population.31
306591372019Genetic variation in PLEKHG1 is associated with white matter hyperintensities (n = 11,226).8
299670392018Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1.6

Citation

Dessen P

PLEKHG1 (pleckstrin homology and RhoGEF domain containing G1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71978/plekhg1