RGS9BP (regulator of G protein signaling 9 binding protein)

2014-11-01  

Identity

HGNC
LOCATION
19q13.11
LOCUSID
ALIAS
PERRS,R9AP,RGS9

Other Information

Locus ID:

NCBI: 388531
MIM: 607814
HGNC: 30304
Ensembl: ENSG00000186326

Variants:

dbSNP: 388531
ClinVar: 388531
TCGA: ENSG00000186326
COSMIC: RGS9BP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186326ENST00000334176Q6ZS82

Expression (GTEx)

0
1
2
3
4

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The phototransduction cascadeREACTOMER-HSA-2514856
Inactivation, recovery and regulation of the phototransduction cascadeREACTOMER-HSA-2514859

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
147020872004Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.65
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.13
198185062010Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).12
176987702007Bradyopsia in an Asian man.9
183186132008The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels.0

Citation

Dessen P

RGS9BP (regulator of G protein signaling 9 binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72621/rgs9bp