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Aliases for OTOP3 Gene

Aliases for OTOP3 Gene

  • Otopetrin 3 2 3 5

External Ids for OTOP3 Gene

Previous GeneCards Identifiers for OTOP3 Gene

  • GC17P073396
  • GC17P073529
  • GC17P070443
  • GC17P072931
  • GC17P068342

Summaries for OTOP3 Gene

GeneCards Summary for OTOP3 Gene

OTOP3 (Otopetrin 3) is a Protein Coding gene. An important paralog of this gene is OTOP2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTOP3 Gene

Genomics for OTOP3 Gene

Regulatory Elements for OTOP3 Gene

Enhancers for OTOP3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OTOP3 on UCSC Golden Path with GeneCards custom track

Genomic Location for OTOP3 Gene

74,935,719 bp from pter
74,949,992 bp from pter
14,274 bases
Plus strand

Genomic View for OTOP3 Gene

Genes around OTOP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTOP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTOP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTOP3 Gene

Proteins for OTOP3 Gene

  • Protein details for OTOP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:

    Protein attributes for OTOP3 Gene

    596 amino acids
    Molecular mass:
    66296 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OTOP3 Gene

Proteomics data for OTOP3 Gene at MOPED

Post-translational modifications for OTOP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OTOP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OTOP3 Gene

Domains & Families for OTOP3 Gene

Protein Domains for OTOP3 Gene


Suggested Antigen Peptide Sequences for OTOP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the otopetrin family.
  • Belongs to the otopetrin family.
genes like me logo Genes that share domains with OTOP3: view

No data available for Gene Families for OTOP3 Gene

Function for OTOP3 Gene

genes like me logo Genes that share phenotypes with OTOP3: view

Animal Models for OTOP3 Gene

MGI Knock Outs for OTOP3:

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for OTOP3 Gene

Localization for OTOP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOP3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for OTOP3 Gene COMPARTMENTS Subcellular localization image for OTOP3 gene
Compartment Confidence
plasma membrane 3
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for OTOP3 Gene

Pathways & Interactions for OTOP3 Gene

SuperPathways for OTOP3 Gene

No Data Available

Interacting Proteins for OTOP3 Gene

Gene Ontology (GO) - Biological Process for OTOP3 Gene


No data available for Pathways by source and SIGNOR curated interactions for OTOP3 Gene

Drugs & Compounds for OTOP3 Gene

No Compound Related Data Available

Transcripts for OTOP3 Gene

mRNA/cDNA for OTOP3 Gene

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

Unigene Clusters for OTOP3 Gene

Otopetrin 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OTOP3 Gene

No ASD Table

Relevant External Links for OTOP3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OTOP3 Gene

mRNA expression in normal human tissues for OTOP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OTOP3 Gene

This gene is overexpressed in Esophagus - Mucosa (x36.7) and Skin - Sun Exposed (Lower leg) (x4.5).

SOURCE GeneReport for Unigene cluster for OTOP3 Gene Hs.454407

genes like me logo Genes that share expression patterns with OTOP3: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for OTOP3 Gene

Orthologs for OTOP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTOP3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia OTOP3 35
  • 83.7 (n)
  • 82.06 (a)
OTOP3 36
  • 81 (a)
(Canis familiaris)
Mammalia OTOP3 35
  • 87.16 (n)
  • 85.81 (a)
OTOP3 36
  • 83 (a)
(Mus musculus)
Mammalia Otop3 35
  • 82.5 (n)
  • 83.04 (a)
Otop3 16
Otop3 36
  • 78 (a)
(Pan troglodytes)
Mammalia OTOP3 35
  • 98.22 (n)
  • 97.52 (a)
OTOP3 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Otop3 35
  • 82.74 (n)
  • 83.39 (a)
(Monodelphis domestica)
Mammalia OTOP3 36
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia OTOP3 36
  • 69 (a)
(Gallus gallus)
Aves OTOP3 35
  • 69.22 (n)
  • 62.99 (a)
OTOP3 36
  • 59 (a)
(Anolis carolinensis)
Reptilia OTOP3 36
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731580 35
  • 56.42 (n)
  • 46.62 (a)
Species with no ortholog for OTOP3:
  • 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)
  • zebrafish (Danio rerio)

Evolution for OTOP3 Gene

Gene Tree for OTOP3 (if available)
Gene Tree for OTOP3 (if available)

Paralogs for OTOP3 Gene

Paralogs for OTOP3 Gene

(2) SIMAP similar genes for OTOP3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with OTOP3: view

Variants for OTOP3 Gene

Sequence variations from dbSNP and Humsavar for OTOP3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs7210616 - 74,941,510(+) GCCCC(A/G)GCAGA reference, missense
rs9890664 - 74,941,756(+) CCGCC(A/G)ACCAC reference, missense
rs1542752 - 74,942,005(-) GACAG(A/G)GAAGA reference, missense
rs35131040 - 74,947,284(+) GCCCA(C/G)TCTGG reference, missense
rs2131047 -- 74,938,601(-) GTCTT(C/T)GACCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OTOP3 Gene

Variant ID Type Subtype PubMed ID
nsv518292 CNV Loss 19592680
nsv908744 CNV Loss 21882294
nsv833540 CNV Loss 17160897
dgv3254n71 CNV Loss 21882294
nsv457909 CNV Gain 19166990
nsv470601 CNV Loss 18288195
dgv3255n71 CNV Loss 21882294
nsv908752 CNV Loss 21882294
nsv908753 CNV Loss 21882294

Variation tolerance for OTOP3 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.35; 63.25% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for OTOP3 Gene

Disorders for OTOP3 Gene

Relevant External Links for OTOP3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for OTOP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OTOP3 Gene

Publications for OTOP3 Gene

  1. Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1. (PMID: 12651873) Hurle B. … Ornitz D.M. (Hum. Mol. Genet. 2003) 2 3 4 67
  2. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M. … Kato S. (Invest. Ophthalmol. Vis. Sci. 2011) 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for OTOP3 Gene

Sources for OTOP3 Gene