PLEKHH2 (pleckstrin homology, MyTH4 and FERM domain containing H2)

2014-08-01  

Identity

HGNC
PLEKHH2
LOCATION
2p21
LOCUSID
130271
ALIAS
PLEKHH1L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 130271
MIM: 612723
HGNC: 30506
Ensembl: ENSG00000152527

Variants:

dbSNP: 130271
ClinVar: 130271
TCGA: ENSG00000152527
COSMIC: PLEKHH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152527ENST00000282406Q8IVE3
ENSG00000152527ENST00000490038H0YBV1
ENSG00000152527ENST00000491692E5RGK1

Expression (GTEx)

0
10
20
30
40
50
60
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD27670767
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD27670767
PA448499atenololChemicalClinicalAnnotationassociatedPD27670767
PA451868verapamilChemicalClinicalAnnotationassociatedPD27670767

References

Pubmed IDYearTitleCitations
228325172012Plekhh2, a novel podocyte protein downregulated in human focal segmental glomerulosclerosis, is involved in matrix adhesion and actin dynamics.7
187520022008Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population.5
187520022008Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population.5

Citation

Dessen P

PLEKHH2 (pleckstrin homology, MyTH4 and FERM domain containing H2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54543/plekhh2