OPN1LW (opsin 1, long wave sensitive)

2016-10-01 Affiliation

Identity

HGNC

OPN1LW

LOCATION

Xq28

LOCUSID

5956

ALIAS

CBBM,CBP,COD5,RCP,ROP

FUSION GENES

Show Gene Fusions

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: 5956
MIM: 300822
HGNC: 9936
Ensembl: ENSG00000102076

Variants:

dbSNP: 5956
ClinVar: 5956
TCGA: ENSG00000102076
COSMIC: OPN1LW

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000102076	ENST00000369951	P04000
ENSG00000102076	ENST00000442922	H0Y622

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
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Diseases associated with visual transduction	REACTOME	R-HSA-2474795
Retinoid cycle disease events	REACTOME	R-HSA-2453864
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
Visual phototransduction	REACTOME	R-HSA-2187338
The retinoid cycle in cones (daylight vision)	REACTOME	R-HSA-2187335

References

Pubmed ID	Year	Title	Citations
23139274	2012	The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.	38
19386593	2009	The action of 11-cis-retinol on cone opsins and intact cone photoreceptors.	23
21451022	2011	Thyroid hormone controls cone opsin expression in the retina of adult rodents.	23
20579627	2010	X-linked cone dystrophy caused by mutation of the red and green cone opsins.	19
22732407	2012	Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.	17
20220053	2010	Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.	15
19493002	2009	Expressions of rod and cone photoreceptor-like proteins in human epidermis.	14
20801516	2011	Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.	11
26114493	2015	Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.	11
28045251	2017	A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins.	10

Citation

Dessen P

OPN1LW (opsin 1, long wave sensitive)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56415/opn1lw