RGS9BP (regulator of G protein signaling 9 binding protein)

2014-11-01  

Identity

HGNC
RGS9BP
LOCATION
19q13.11
LOCUSID
388531
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
198185062010Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).18
198185062010Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).18
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.16
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.16
183186132008The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels.8
183186132008The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels.8
176987702007Bradyopsia in an Asian man.11
176987702007Bradyopsia in an Asian man.11
147020872004Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.74
147020872004Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.74

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