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Aliases for RRH Gene

Aliases for RRH Gene

  • Retinal Pigment Epithelium-Derived Rhodopsin Homolog 2 3 5
  • Peropsin 2 3
  • Visual Pigment-Like Receptor Peropsin 3

External Ids for RRH Gene

Previous GeneCards Identifiers for RRH Gene

  • GC04U990073
  • GC04P111019
  • GC04P111142
  • GC04P111207
  • GC04P111106
  • GC04P110968
  • GC04P110749
  • GC04P106481

Summaries for RRH Gene

Entrez Gene Summary for RRH Gene

  • 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, Jul 2008]

GeneCards Summary for RRH Gene

RRH (Retinal Pigment Epithelium-Derived Rhodopsin Homolog) is a Protein Coding gene. Diseases associated with RRH include Retinitis Pigmentosa 29 and Retinitis Pigmentosa, X-Linked Recessive, 6. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN4.

UniProtKB/Swiss-Prot for RRH Gene

  • May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds.

Gene Wiki entry for RRH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RRH Gene

Genomics for RRH Gene

Regulatory Elements for RRH Gene

Enhancers for RRH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G109801 0.8 ENCODE 10 -25.9 -25902 2.1 FEZF1 RAD21 RARA YY1 MIXL1 NFYC KAT8 NFIC PRDM6 CEBPA LRIT3 SEC24B-AS1 RRH GAR1 CFI PLA2G12A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RRH on UCSC Golden Path with GeneCards custom track

Genomic Location for RRH Gene

Chromosome:
4
Start:
109,827,994 bp from pter
End:
109,844,707 bp from pter
Size:
16,714 bases
Orientation:
Plus strand

Genomic View for RRH Gene

Genes around RRH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RRH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RRH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRH Gene

Proteins for RRH Gene

  • Protein details for RRH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14718-OPSX_HUMAN
    Recommended name:
    Visual pigment-like receptor peropsin
    Protein Accession:
    O14718
    Secondary Accessions:
    • A1A4V2
    • Q7RTS4

    Protein attributes for RRH Gene

    Size:
    337 amino acids
    Molecular mass:
    37423 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RRH Gene

Post-translational modifications for RRH Gene

  • Glycosylation at isoforms=8
  • Modification sites at PhosphoSitePlus

Other Protein References for RRH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RRH Gene

Domains & Families for RRH Gene

Gene Families for RRH Gene

Protein Domains for RRH Gene

Suggested Antigen Peptide Sequences for RRH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14718

UniProtKB/Swiss-Prot:

OPSX_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
genes like me logo Genes that share domains with RRH: view

Function for RRH Gene

Molecular function for RRH Gene

GENATLAS Biochemistry:
peropsin,retinol pigment epithelium-derived,rhodopsin homolog,located in the apical microvilli of RPE,putative regulator of RPE function or activity
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for RRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0009881 photoreceptor activity IEA --
genes like me logo Genes that share ontologies with RRH: view
genes like me logo Genes that share phenotypes with RRH: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RRH Gene

Localization for RRH Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRH Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RRH gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for RRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IBA --
GO:0005887 integral component of plasma membrane TAS 9275222
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RRH: view

Pathways & Interactions for RRH Gene

genes like me logo Genes that share pathways with RRH: view

Pathways by source for RRH Gene

Gene Ontology (GO) - Biological Process for RRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IEA --
GO:0018298 protein-chromophore linkage IEA --
genes like me logo Genes that share ontologies with RRH: view

No data available for SIGNOR curated interactions for RRH Gene

Transcripts for RRH Gene

mRNA/cDNA for RRH Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RRH Gene

Retinal pigment epithelium-derived rhodopsin homolog:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RRH Gene

No ASD Table

Relevant External Links for RRH Gene

GeneLoc Exon Structure for
RRH
ECgene alternative splicing isoforms for
RRH

Expression for RRH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RRH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RRH Gene

This gene is overexpressed in Brain - Cerebellum (x4.0).

Protein differential expression in normal tissues from HIPED for RRH Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RRH Gene



Protein tissue co-expression partners for RRH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RRH Gene:

RRH

SOURCE GeneReport for Unigene cluster for RRH Gene:

Hs.658310

mRNA Expression by UniProt/SwissProt for RRH Gene:

O14718-OPSX_HUMAN
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.

Evidence on tissue expression from TISSUES for RRH Gene

  • Eye(4.5)
genes like me logo Genes that share expression patterns with RRH: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RRH Gene

Orthologs for RRH Gene

This gene was present in the common ancestor of chordates.

Orthologs for RRH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RRH 34 35
  • 99.9 (n)
cow
(Bos Taurus)
Mammalia RRH 34 35
  • 90.8 (n)
dog
(Canis familiaris)
Mammalia RRH 34 35
  • 90.58 (n)
mouse
(Mus musculus)
Mammalia Rrh 34 16 35
  • 82.78 (n)
rat
(Rattus norvegicus)
Mammalia Rrh 34
  • 82.11 (n)
oppossum
(Monodelphis domestica)
Mammalia RRH 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RRH 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves RRH 34 35
  • 74.75 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 74 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rrh 34
  • 71.76 (n)
zebrafish
(Danio rerio)
Actinopterygii rrh 34 35
  • 66.77 (n)
Species where no ortholog for RRH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RRH Gene

ENSEMBL:
Gene Tree for RRH (if available)
TreeFam:
Gene Tree for RRH (if available)

Paralogs for RRH Gene

Paralogs for RRH Gene

(9) SIMAP similar genes for RRH Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RRH: view

Variants for RRH Gene

Sequence variations from dbSNP and Humsavar for RRH Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000019897 -- 109,837,301(+) AAACT(A/G)AAAGT intron-variant
rs10000762 -- 109,826,708(+) ACTGA(C/T)GAGAT upstream-variant-2KB
rs1000082528 -- 109,844,475(+) ATTAC(A/T)CTGTA utr-variant-3-prime
rs1000173944 -- 109,828,198(+) CAGCA(C/T)AAGGC intron-variant
rs10007208 -- 109,828,648(+) AGCAG(A/G)GTATA intron-variant

Variation tolerance for RRH Gene

Residual Variation Intolerance Score: 61.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RRH Gene

Human Gene Mutation Database (HGMD)
RRH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RRH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RRH Gene

Disorders for RRH Gene

MalaCards: The human disease database

(3) MalaCards diseases for RRH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 29
  • rp29
retinitis pigmentosa, x-linked recessive, 6
  • retinitis pigmentosa 6
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search RRH in MalaCards View complete list of genes associated with diseases

Relevant External Links for RRH

Genetic Association Database (GAD)
RRH
Human Genome Epidemiology (HuGE) Navigator
RRH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RRH
genes like me logo Genes that share disorders with RRH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RRH Gene

Publications for RRH Gene

  1. Peropsin, a novel visual pigment-like protein located in the apical microvilli of the retinal pigment epithelium. (PMID: 9275222) Sun H. … Nathans J. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 22 64
  2. In silico characterisation and chromosomal localisation of human RRH (peropsin) -- implications for opsin evolution. (PMID: 12542842) Bellingham J. … Foster R.G. (BMC Genomics 2003) 3 4 22 64
  3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 46 64
  4. Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. (PMID: 17167409) Rivolta C. … Dryja T.P. (Mol. Vis. 2006) 3 22 64
  5. Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors. (PMID: 18240029) Luttrell L.M. (Mol. Biotechnol. 2008) 3 64

Products for RRH Gene

Sources for RRH Gene

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