OPN1MW (opsin 1, medium wave sensitive)

Gene
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2652
Gene name Gene Name - the full gene name approved by the HGNC.
Opsin 1, medium wave sensitive
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OPN1MW
Synonyms (NCBI Gene) Gene synonyms aliases
CBBM, CBD, COD5, GCP, GOP, OPN1MW1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-term
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
Show/Hide all(26)
miRTarBase ID miRNA Experiments Reference
MIRT017886 hsa-miR-335-5p Microarray 18185580
MIRT1204408 hsa-miR-4434 CLIP-seq
MIRT1204409 hsa-miR-4516 CLIP-seq
MIRT1204410 hsa-miR-4531 CLIP-seq
MIRT1204411 hsa-miR-4534 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
Show/Hide all(27)
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 20579627
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
MIM HGNC e!Ensembl
300821 4206 ENSG00000268221
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
  Reactome
    The retinoid cycle in cones (daylight vision)
Retinoid cycle disease events
G alpha (i) signalling events
Opsins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cone Dystrophy, X-linked cone dystrophy 5, x-linked rs267606927 N/A
Cone monochromatism cone monochromatism rs104894914 N/A
Deuteranomaly deuteranomaly rs104894916, rs724159983, rs104894915, rs104894914 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Blue Cone Monochromacy blue cone monochromacy N/A N/A GenCC
Color Blindness red-green color blindness N/A N/A GenCC
Cone Dystrophy cone-rod dystrophy N/A N/A GenCC
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
beta Thalassemia Associate 11074564
Blue cone monochromatism Associate 25909963, 26153062, 27339364, 29940872, 30065301, 33344057, 34445325, 35743313, 36692456
Bornholm Eye Disease Associate 35743313
Cardiac Output Low Inhibit 35759666
Color Vision Defects Associate 25168334, 35743313
Cone Rod Dystrophy X Linked 2 Associate 27339364, 35743313
Congenital Abnormalities Associate 25168334
Eye Diseases Associate 37365340
Myopia Associate 25168334, 35400991, 35741704, 35743313, 37097228
O'Donnell Pappas syndrome Associate 34445325