OPN1MW2

Summary

OPN1MW2 (opsin 1, medium wave sensitive 2, HGNC:26952) is a protein-coding gene on chromosome Xq28, encoding Medium-wave-sensitive opsin 2 (P0DN77). Visual pigments are the light-absorbing molecules that mediate vision.

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-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness.

Source: NCBI Gene 728458 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 30 total — 3 pathogenic
• MANE Select transcript: NM_001048181

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26952
Approved symbol	OPN1MW2
Name	opsin 1, medium wave sensitive 2
Location	Xq28
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000166160
Ensembl biotype	protein_coding
Entrez	728458

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000369929, ENST00000430419, ENST00000488220

RefSeq mRNA: 1 — MANE Select: NM_001048181 NM_001048181

CCDS: CCDS35447

Canonical transcript exons

ENST00000369929 — 6 exons

Exon	Start	End
ENSE00001775155	154230548	154230787
ENSE00001804493	154228828	154228993
ENSE00001836079	154233070	154233286
ENSE00001937441	154219756	154219927
ENSE00003569555	154224908	154225204
ENSE00003664302	154227192	154227360

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 46.18.

Top tissues by expression

106 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	46.18	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
vermiform appendix	UBERON:0001154	35.62	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	35.06	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle tissue	UBERON:0002385	32.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.35	gold quality
smooth muscle tissue	UBERON:0001135	28.73	silver quality
liver	UBERON:0002107	28.57	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.65	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
skin of leg	UBERON:0001511	26.62	silver quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
muscle of leg	UBERON:0001383	26.53	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
zone of skin	UBERON:0000014	25.96	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
gastrocnemius	UBERON:0001388	25.60	gold quality
leukocyte	CL:0000738	25.26	gold quality
monocyte	CL:0000576	25.03	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting OPN1MW2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-625-5P	99.02	68.64	2031

Literature-anchored findings (GeneRIF, showing 1)

• Immunoreactivity to anti-OPN1LW antibodies was seen in the basal layer of human epidermis & reconstructed skin. The opsin mRNA was seen in total RNA from human skin. Neither immunoreactivity nor mRNA expression was seen in cultured human keratinocytes. (PMID:19493002)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	opn1lw2	ENSDARG00000044861
danio_rerio	opn1lw1	ENSDARG00000044862
mus_musculus	Opn1mw	ENSMUSG00000031394
rattus_norvegicus	Opn1mw	ENSRNOG00000051529

Paralogs (9): OPN3 (ENSG00000054277), OPN1LW (ENSG00000102076), OPN4 (ENSG00000122375), OPN5 (ENSG00000124818), OPN1SW (ENSG00000128617), RHO (ENSG00000163914), RRH (ENSG00000180245), OPN1MW (ENSG00000268221), OPN1MW3 (ENSG00000269433)

Protein

Protein identifiers

Medium-wave-sensitive opsin 2 — P0DN77 (reviewed: P0DN77)

Alternative names: Green cone photoreceptor pigment, Green-sensitive opsin, Opsin 1 cone pigments medium-wave-sensitive 2

All UniProt accessions (2): P0DN77, H0Y642

UniProt curated annotations — full annotation on UniProt →

Function. Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.

Subcellular location. Cell membrane.

Post-translational modifications. N-glycosylated. O-glycosylated. Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.

Similarity. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.

RefSeq proteins (1): NP_001041646* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000378	Opsin_red/grn	Family
IPR001760	Opsin	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR027430	Retinal_BS	Binding_site
IPR050125	GPCR_opsins	Family

Pfam: PF00001

UniProt features (21 total): topological domain 8, transmembrane region 7, region of interest 2, chain 1, modified residue 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DN77-F1	82.82	0.56

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 312

Disulfide bonds (1): 126–203

Glycosylation sites (1): 34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 41 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_PHOTOTRANSDUCTION, GOBP_CYTOKINESIS, GOBP_POSITIVE_REGULATION_OF_CELL_DIVISION, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_CYTOKINESIS, GOBP_POSITIVE_REGULATION_OF_CYTOKINESIS, GOBP_REGULATION_OF_CELL_DIVISION, GOBP_RESPONSE_TO_RADIATION, GOBP_DETECTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS

GO Biological Process (8): G protein-coupled receptor signaling pathway (GO:0007186), visual perception (GO:0007601), phototransduction (GO:0007602), absorption of visible light (GO:0016038), positive regulation of cytokinesis (GO:0032467), cellular response to light stimulus (GO:0071482), signal transduction (GO:0007165), detection of visible light (GO:0009584)

GO Molecular Function (3): G protein-coupled photoreceptor activity (GO:0008020), G protein-coupled receptor activity (GO:0004930), photoreceptor activity (GO:0009881)

GO Cellular Component (4): photoreceptor outer segment (GO:0001750), plasma membrane (GO:0005886), photoreceptor disc membrane (GO:0097381), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
G protein-coupled receptor activity	2
signal transduction	2
detection of light stimulus	2
cellular anatomical structure	2
sensory perception of light stimulus	1
light absorption	1
cytokinesis	1
regulation of cytokinesis	1
positive regulation of cell division	1
positive regulation of cell cycle process	1
response to light stimulus	1
cellular response to radiation	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
detection of visible light	1
photoreceptor activity	1
transmembrane signaling receptor activity	1
G protein-coupled receptor signaling pathway	1
signaling receptor activity	1
photoreceptor cell cilium	1
membrane	1
cell periphery	1
photoreceptor outer segment	1
organelle membrane	1

Protein interactions and networks

STRING

346 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OPN1MW2	TEX28	O15482	507
OPN1MW2	GUCA1C	O95843	502
OPN1MW2	CRYAA	P02489	444
OPN1MW2	OR51D1	Q8NGF3	430
OPN1MW2	GNAT2	P19087	417
OPN1MW2	OR52J3	Q8NH60	373
OPN1MW2	GRAPL	Q8TC17	350
OPN1MW2	CCDC66	A2RUB6	348
OPN1MW2	NR2E3	Q9Y5X4	312
OPN1MW2	GNAT1	P11488	291
OPN1MW2	SEC61A2	Q9H9S3	287
OPN1MW2	ARR3	P36575	284
OPN1MW2	VSX1	Q9NZR4	283
OPN1MW2	TMX3	Q96JJ7	272
OPN1MW2	RCVRN	P35243	263

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: O12948, O18910, O18912, O18913, O18914, O35476, O35478, O35599, O57605, O93441, O93459, P04000, P04001, P0DN77, P0DN78, P22329, P22330, P22331, P22332, P22671, P28683, P32309, P32310, P32311, P32312, P32313, P34989, P35357, P35358, P41591, P41592, P51471, P51472, P51474, P51488, P79863, P87365, P87366, P87367, Q8AYM7

Diamond homologs: O12948, O13092, O13227, O18910, O18911, O18912, O18913, O18914, O35476, O35478, O35599, O42604, O57605, O62794, O93441, O93459, P03999, P04000, P04001, P0DN77, P0DN78, P22328, P22329, P22330, P22331, P22332, P22671, P28683, P28684, P32308, P32309, P32310, P32311, P32312, P32313, P34989, P35357, P35358, P35359, P35403

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

30 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	19
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1526876	GRCh37/hg19 Xq28(chrX:153113943-153624020)	Pathogenic
441742	GRCh37/hg19 Xq28(chrX:153097608-153681801)x2	Pathogenic
536592	NC_000023.10:g.(?153295726)(153786885_?)dup	Pathogenic

SpliceAI

899 predictions. Top by Δscore:

Variant	Effect	Δscore
X:154219925:GAG:G	donor_gain	1.0000
X:154219926:AGG:A	donor_loss	1.0000
X:154219927:GGT:G	donor_loss	1.0000
X:154219928:GTGA:G	donor_loss	1.0000
X:154227190:A:AG	acceptor_gain	1.0000
X:154227191:G:GG	acceptor_gain	1.0000
X:154227357:GCAG:G	donor_gain	1.0000
X:154227358:CAG:C	donor_loss	1.0000
X:154227358:CAGGT:C	donor_loss	1.0000
X:154227359:AGG:A	donor_loss	1.0000
X:154227360:GGTA:G	donor_loss	1.0000
X:154227361:G:A	donor_loss	1.0000
X:154227362:T:G	donor_loss	1.0000
X:154228822:CTCCA:C	acceptor_loss	1.0000
X:154228823:TCCA:T	acceptor_loss	1.0000
X:154228823:TCCAG:T	acceptor_loss	1.0000
X:154228824:CCA:C	acceptor_loss	1.0000
X:154228825:CA:C	acceptor_loss	1.0000
X:154228825:CAG:C	acceptor_loss	1.0000
X:154228826:AGGT:A	acceptor_loss	1.0000
X:154228826:AGGTA:A	acceptor_loss	1.0000
X:154228827:G:GT	acceptor_loss	1.0000
X:154228991:GCG:G	donor_gain	1.0000
X:154230545:TAGGT:T	acceptor_loss	1.0000
X:154230785:CAGGT:C	donor_loss	1.0000
X:154230787:GGTA:G	donor_loss	1.0000
X:154230787:GGTAA:G	donor_loss	1.0000
X:154230788:GT:G	donor_loss	1.0000
X:154230788:GTA:G	donor_loss	1.0000
X:154230789:T:G	donor_loss	1.0000

AlphaMissense

2391 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1065427 (X:154230623 G>A), RS1065430 (X:154230626 C>T), RS1065432 (X:154230628 G>T), RS1065433 (X:154230631 A>C,G), RS1065434 (X:154230633 T>A), RS1065436 (X:154230638 T>C,G), RS1065437 (X:154230652 C>A,T), RS1065438 (X:154230656 G>A), RS112842419 (X:154223865 G>T), RS112920784 (X:154224227 G>A), RS113348300 (X:154218538 G>T), RS1196431422 (X:154217788 T>A), RS1219012335 (X:154218027 T>A,G), RS1260349389 (X:154218006 C>A), RS1273502906 (X:154218033 G>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:300049, MIM:304120, MIM:309350, MIM:305620, MIM:300673

GenCC curated gene-disease

Mondo (5): heterotopia, periventricular, X-linked dominant (MONDO:0010233), otopalatodigital syndrome type 2 (MONDO:0010571), Melnick-Needles syndrome (MONDO:0010650), frontometaphyseal dysplasia (MONDO:0015942), severe neonatal-onset encephalopathy with microcephaly (MONDO:0010397)

Orphanet (7): Frontometaphyseal dysplasia (Orphanet:1826), Nodular neuronal heterotopia (Orphanet:2149), Melnick-Needles syndrome (Orphanet:2484), OBSOLETE: Otopalatodigital syndrome (Orphanet:669), Ehlers-Danlos syndrome with periventricular heterotopia (Orphanet:82004), Otopalatodigital syndrome type 2 (Orphanet:90652), MECP2-related severe neonatal encephalopathy (Orphanet:209370)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90002381_504	Eosinophil count	2.000000e-11
GCST90002382_524	Eosinophil percentage of white cells	1.000000e-17

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
C566878	Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (supp.)
C538064	Frontometaphyseal dysplasia (supp.)
C538089	Oto-palato-digital syndrome, type 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

6 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05857085	PHASE4	COMPLETED	Novel Therapeutics and Endothelial Dysfunction in T1DM Patients
NCT06547216	PHASE2	ACTIVE_NOT_RECRUITING	Phase 2 Open-label Extension Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT05747924	PHASE1/PHASE2	COMPLETED	Phase 1/2 Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT01862146	Not specified	COMPLETED	Arterial Remodeling in Smokers
NCT02127333	Not specified	COMPLETED	Role of Oxygen for Vascular Dysfunction
NCT04199949	Not specified	COMPLETED	Effects of Five Days of Physical Inactivity on Endothelial Function in Healthy Humans