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: 5149
MIM: 601190
HGNC: 8790
Ensembl: ENSG00000139053
Variants:
dbSNP: 5149
ClinVar: 5149
TCGA: ENSG00000139053
COSMIC: PDE6H
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000139053 | ENST00000266395 | Q13956 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Purine metabolism | KEGG | ko00230 |
| Purine metabolism | KEGG | hsa00230 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 22901948 | 2012 | A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. | 87 |
| 22901948 | 2012 | A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. | 87 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 15629837 | 2005 | A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. | 16 |
| 15629837 | 2005 | A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. | 16 |
Citation
Dessen P
PDE6H (phosphodiesterase 6H)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71798/pde6h-(phosphodiesterase-6h)
