PLEKHJ1 (pleckstrin homology domain containing J1)

2014-11-01  

Identity

HGNC
PLEKHJ1
LOCATION
19p13.3
LOCUSID
55111
ALIAS
GNRPX
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55111
MIM: 617834
HGNC: 18211
Ensembl: ENSG00000104886

Variants:

dbSNP: 55111
ClinVar: 55111
TCGA: ENSG00000104886
COSMIC: PLEKHJ1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104886ENST00000326631Q9NW61
ENSG00000104886ENST00000586608K7EIW9
ENSG00000104886ENST00000587394K7EIZ3
ENSG00000104886ENST00000587962K7ERW3
ENSG00000104886ENST00000589097Q9NW61
ENSG00000104886ENST00000591099K7ERH2

Expression (GTEx)

0
50
100
150
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD31327267
PA448765candesartanChemicalClinicalAnnotationassociatedPD31327267

Citation

Dessen P

PLEKHJ1 (pleckstrin homology domain containing J1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71985/plekhj1