RRH (retinal pigment epithelium-derived rhodopsin homolog)

2014-11-01 Affiliation

Identity

HGNC

RRH

LOCATION

4q25

LOCUSID

10692

ALIAS

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: 10692
MIM: 605224
HGNC: 10450
Ensembl: ENSG00000180245

Variants:

dbSNP: 10692
ClinVar: 10692
TCGA: ENSG00000180245
COSMIC: RRH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000180245	ENST00000317735	O14718
ENSG00000180245	ENST00000652276	A0A494C1B2

Expression (GTEx)

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

Pathway	Source	External ID
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR ligand binding	REACTOME	R-HSA-500792
Class A/1 (Rhodopsin-like receptors)	REACTOME	R-HSA-373076
Opsins	REACTOME	R-HSA-419771
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (i) signalling events	REACTOME	R-HSA-418594

References

Pubmed ID	Year	Title	Citations
29476064	2018	An all-trans-retinal-binding opsin peropsin as a potential dark-active and light-inactivated G protein-coupled receptor.	16
29476064	2018	An all-trans-retinal-binding opsin peropsin as a potential dark-active and light-inactivated G protein-coupled receptor.	16
20332099	2010	A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.	8
20332099	2010	A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.	8
17167409	2006	Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.	3
17167409	2006	Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.	3

Citation

Dessen P

RRH (retinal pigment epithelium-derived rhodopsin homolog)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72887