PLEKHA7 (pleckstrin homology domain containing A7)

2007-04-01  

Identity

HGNC
PLEKHA7
LOCATION
11p15.2
LOCUSID
144100
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 144100
MIM: 612686
HGNC: 27049
Ensembl: ENSG00000166689

Variants:

dbSNP: 144100
ClinVar: 144100
TCGA: ENSG00000166689
COSMIC: PLEKHA7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166689ENST00000355661Q6IQ23
ENSG00000166689ENST00000525581E9PL74
ENSG00000166689ENST00000528376E9PIK1
ENSG00000166689ENST00000530489H0YDE2
ENSG00000166689ENST00000531066E9PKC0
ENSG00000166689ENST00000532079E9PN45
ENSG00000166689ENST00000636090A0A1B0GUM1
ENSG00000166689ENST00000636113A0A1B0GUN0
ENSG00000166689ENST00000637162A0A1B0GTN9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
194304792009Genome-wide association study of blood pressure and hypertension.542
190417552008Anchorage of microtubule minus ends to adherens junctions regulates epithelial cell-cell contacts.140
204791552010Blood pressure and hypertension are associated with 7 loci in the Japanese population.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
263024062015Distinct E-cadherin-based complexes regulate cell behaviour through miRNA processing or Src and p120 catenin activity.39
263024062015Distinct E-cadherin-based complexes regulate cell behaviour through miRNA processing or Src and p120 catenin activity.39
210457332011Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.31
204142542010Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population.29
208088262010PLEKHA7 is an adherens junction protein with a tissue distribution and subcellular localization distinct from ZO-1 and E-cadherin.27
219631412011Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in She ethnic minority of China.25

Citation

Dessen P

PLEKHA7 (pleckstrin homology domain containing A7)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47399/plekha7