PLEKHA5 (pleckstrin homology domain containing A5)

2007-04-01  

Identity

HGNC
PLEKHA5
LOCATION
12p12.3
LOCUSID
54477
ALIAS
PEPP-2,PEPP2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54477
MIM: 607770
HGNC: 30036
Ensembl: ENSG00000052126

Variants:

dbSNP: 54477
ClinVar: 54477
TCGA: ENSG00000052126
COSMIC: PLEKHA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000052126ENST00000299275Q9HAU0
ENSG00000052126ENST00000424268Q9HAU0
ENSG00000052126ENST00000429027Q9HAU0
ENSG00000052126ENST00000536974B4DJX4
ENSG00000052126ENST00000538305F5H1X3
ENSG00000052126ENST00000538677H0YG48
ENSG00000052126ENST00000538714Q9HAU0
ENSG00000052126ENST00000538714A0A024RAY7
ENSG00000052126ENST00000538972H0YGJ6
ENSG00000052126ENST00000539256A0JP02
ENSG00000052126ENST00000540972Q9HAU0

Expression (GTEx)

0
5
10
15
20
25
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the plasma membraneREACTOMER-HSA-1660499

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
346137982021PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes ATPase ATP7A to the cell periphery and regulate copper homeostasis.17
346137982021PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes ATPase ATP7A to the cell periphery and regulate copper homeostasis.17
317698722020PLEKHA5 regulates tumor growth in metastatic melanoma.9
317698722020PLEKHA5 regulates tumor growth in metastatic melanoma.9
304548822019High genetic risk scores of SLIT3, PLEKHA5 and PPP2R2C variants increased insulin resistance and interacted with coffee and caffeine consumption in middle-aged adults.9
304548822019High genetic risk scores of SLIT3, PLEKHA5 and PPP2R2C variants increased insulin resistance and interacted with coffee and caffeine consumption in middle-aged adults.9
253168112015PLEKHA5 as a Biomarker and Potential Mediator of Melanoma Brain Metastasis.47
253168112015PLEKHA5 as a Biomarker and Potential Mediator of Melanoma Brain Metastasis.47

Citation

Dessen P

PLEKHA5 (pleckstrin homology domain containing A5)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46847/plekha5-(pleckstrin-homology-domain-containing-a5)