RRH (retinal pigment epithelium-derived rhodopsin homolog)

Gene

• Entrez ID: 10692
• Gene name: Retinal pigment epithelium-derived rhodopsin homolog
• Gene symbol: RRH
• Synonyms (NCBI Gene): -
• Chromosome: 4
• Chromosome location: 4q25
• Summary: Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1319675	hsa-miR-1224-5p	CLIP-seq
MIRT1319676	hsa-miR-1273e	CLIP-seq
MIRT1319677	hsa-miR-218	CLIP-seq
MIRT1319678	hsa-miR-28-5p	CLIP-seq
MIRT1319679	hsa-miR-3139	CLIP-seq
MIRT1319680	hsa-miR-3150b-3p	CLIP-seq
MIRT1319681	hsa-miR-3915	CLIP-seq
MIRT1319682	hsa-miR-4689	CLIP-seq
MIRT1319683	hsa-miR-4784	CLIP-seq
MIRT1319684	hsa-miR-636	CLIP-seq
MIRT1319685	hsa-miR-708	CLIP-seq
MIRT2319341	hsa-miR-1206	CLIP-seq
MIRT2319342	hsa-miR-3120-3p	CLIP-seq
MIRT2319343	hsa-miR-409-3p	CLIP-seq
MIRT2319344	hsa-miR-4729	CLIP-seq
MIRT2319345	hsa-miR-579	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	9275222
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	9275222
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	9275222
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9275222
GO:0007602	Process	Phototransduction	IBA
GO:0007602	Process	Phototransduction	IEA
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA
GO:0009584	Process	Detection of visible light	IEA
GO:0009881	Function	Photoreceptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0071482	Process	Cellular response to light stimulus	IBA

Other IDs

• MIM: 605224
• HGNC: 10450
• e!Ensembl: ENSG00000180245

Protein

• UniProt ID: O14718
• Protein name: Visual pigment-like receptor peropsin
• Protein function: May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	42 → 294	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Found only in the eye, where it is localized to the retinal pigment epithelium (RPE). In the RPE, it is localized to the microvilli that surround the photoreceptor outer segments.
• Sequence:

  MLRNNLGNSSDSKNEDGSVFSQTEHNIVATYLIMAGMISIISNIIVLGIFIKYKELRTPT
  NAIIINLAVTDIGVSSIGYPMSAASDLYGSWKFGYAGCQVYAGLNIFFGMASIGLLTVVA
  VDRYLTICLPDVGRRMTTNTYIGLILGAWINGLFWALMPIIGWASYAPDPTGATCTINWR
  KNDRSFVSYTMTVIAINFIVPLTVMFYCYYHVTLSIKHHTTSDCTESLNRDWSDQIDVTK
  MSVIMICMFLVAWSPYSIVCLWASFGDPKKIPPPMAIIAPLFAKSSTFYNPCIYVVANKK
  FRRAMLAMFKCQTHQTMPVTSILPMDVSQNPLASGRI

• Sequence length: 337

Pathways

Reactome:

G alpha (i) signalling events
Opsins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Retinal Degeneration	Retinal degeneration	Pubtator	17167409	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	17167409, 17454745		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	17167409		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	17167409	Associate	★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	16052171		★☆☆☆☆ Found in Text Mining only