OPN1LW (opsin 1, long wave sensitive)

2016-10-01  

Identity

HGNC
OPN1LW
LOCATION
Xq28
LOCUSID
5956
ALIAS
CBBM,CBP,COD5,RCP,ROP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5956
MIM: 300822
HGNC: 9936
Ensembl: ENSG00000102076

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102076ENST00000369951P04000
ENSG00000102076ENST00000442922H0Y622

Expression (GTEx)

0
1
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
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Diseases associated with visual transductionREACTOMER-HSA-2474795
Retinoid cycle disease eventsREACTOMER-HSA-2453864
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
OpsinsREACTOMER-HSA-419771
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
Visual phototransductionREACTOMER-HSA-2187338
The retinoid cycle in cones (daylight vision)REACTOMER-HSA-2187335

References

Pubmed IDYearTitleCitations
370972282023Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.1
370972282023Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.1
357417042022Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia.6
357433132022Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.3
357596662022The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.5
357417042022Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia.6
357433132022Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.3
357596662022The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.5
342870972021Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.4
344403532021Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders.13
342870972021Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.4
344403532021Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders.13
309485142019Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr-rich domain conserved in vertebrates.7
309965872019Differential stability of variant OPN1LW gene transcripts in myopic patients.3
309485142019Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr-rich domain conserved in vertebrates.7

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-(opsin-1-long-wave-sensitive)