PDC (phosducin)

2014-11-01  

Identity

HGNC
LOCATION
1q31.1
LOCUSID
ALIAS
MEKA,PHD,PhLOP,PhLP
FUSION GENES

Other Information

Locus ID:

NCBI: 5132
MIM: 171490
HGNC: 8759
Ensembl: ENSG00000116703

Variants:

dbSNP: 5132
ClinVar: 5132
TCGA: ENSG00000116703
COSMIC: PDC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116703ENST00000391997P20941
ENSG00000116703ENST00000497198P20941
ENSG00000116703ENST00000497198A0A024R982

Expression (GTEx)

0
1

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
164210942006SUMO-1 controls the protein stability and the biological function of phosducin.30
199598752009Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice.12
147583352004Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.2
147583352004Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.2
208047852010Phosducin and monomeric β-actin have common epitope recognized by anti-phosducin antibodies.1
211912912011The identification of phosducin as a novel candidate gene for hypertension and its role in sympathetic activation.1
223655732013Phosducin rs12402521 polymorphism predicts development of hypertension in young subjects with overweight or obesity.1
251536852015Phosducin regulates secretory activity in TT line of thyroid parafollicular C cells.0

Citation

Dessen P

PDC (phosducin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71781/pdc