PDE6H (phosphodiesterase 6H)

2014-11-01  

Identity

HGNC
LOCATION
12p12.3
LOCUSID
ALIAS
ACHM6,RCD3

Other Information

Locus ID:

NCBI: 5149
MIM: 601190
HGNC: 8790
Ensembl: ENSG00000139053

Variants:

dbSNP: 5149
ClinVar: 5149
TCGA: ENSG00000139053
COSMIC: PDE6H

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139053ENST00000266395Q13956

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
229019482012A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.42
156298372005A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.9

Citation

Dessen P

PDE6H (phosphodiesterase 6H)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71798/pde6h