Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 130271
MIM: 612723
HGNC: 30506
Ensembl: ENSG00000152527
Variants:
dbSNP: 130271
ClinVar: 130271
TCGA: ENSG00000152527
COSMIC: PLEKHH2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000152527 | ENST00000282406 | Q8IVE3 |
| ENSG00000152527 | ENST00000490038 | H0YBV1 |
| ENSG00000152527 | ENST00000491692 | E5RGK1 |
Expression (GTEx)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443886 | Diabetes Mellitus | Disease | ClinicalAnnotation | associated | PD | 27670767 | |
| PA444552 | Hypertension | Disease | ClinicalAnnotation | associated | PD | 27670767 | |
| PA448499 | atenolol | Chemical | ClinicalAnnotation | associated | PD | 27670767 | |
| PA451868 | verapamil | Chemical | ClinicalAnnotation | associated | PD | 27670767 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 22832517 | 2012 | Plekhh2, a novel podocyte protein downregulated in human focal segmental glomerulosclerosis, is involved in matrix adhesion and actin dynamics. | 11 |
| 22832517 | 2012 | Plekhh2, a novel podocyte protein downregulated in human focal segmental glomerulosclerosis, is involved in matrix adhesion and actin dynamics. | 11 |
| 18752002 | 2008 | Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population. | 6 |
| 18752002 | 2008 | Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population. | 6 |
| 18752002 | 2008 | Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population. | 6 |
| 18752002 | 2008 | Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population. | 6 |
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-(pleckstrin-homology-myth4-and-ferm-domain-containing-h2)
