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Aliases for OTOP3 Gene

Aliases for OTOP3 Gene

  • Otopetrin 3 2 3 5
  • Otopetrin-3 3

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 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
GH17F074790 1.2 Ensembl ENCODE 11.1 -144.7 -144656 1.7 ATF1 PKNOX1 CREB3L1 MLX ARID4B SIN3A ZNF48 ZNF2 ZNF143 KLF7 RAB37 GRIN2C MIR3615 SLC9A3R1 FDXR FADS6 OTOP3 CD300LF TMEM104 PIR51683
GH17F074989 1.2 Ensembl ENCODE 11 +56.2 56242 4.1 SIN3A ARID4B FEZF1 ZNF2 ZNF48 ZNF121 ZNF143 REST MIER3 KDM1A HID1 RNU6-362P OTOP3 KCTD2 ATP5H FADS6 MRPL58 CDR2L GC17M074998
GH17F074969 1 ENCODE 12 +35.9 35933 3.4 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF121 GLIS2 SP3 SP5 SSRP1 HID1 OTOP3 KCTD2 RNU6-362P ATP5H HID1-AS1
GH17F074910 0.9 ENCODE 13 -23.7 -23742 2.2 HDAC1 NFRKB ETV6 EGR2 ZNF680 ZBTB2 CEBPB ZEB2 ELF1 KAT8 OTOP3 FDXR GC17P074914 GC17M074889
GH17F074967 0.8 Ensembl ENCODE 12 +33.0 32951 1.8 ZNF146 ZHX2 DPF2 MYC TCF7L2 OTOP3 KCTD2 RNU6-362P ATP5H TTYH2 GC17M074966 ENSG00000281273
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Post-translational modifications for OTOP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OTOP3 Gene

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

Gene Ontology (GO) - Molecular Function for OTOP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with OTOP3: view

Phenotypes for OTOP3 Gene

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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

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 OTOP3 gene
Compartment Confidence
plasma membrane 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for OTOP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OTOP3: view

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

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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of OTOP3 Gene:


SOURCE GeneReport for Unigene cluster for OTOP3 Gene:

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia OTOP3 34 35
  • 98.22 (n)
(Canis familiaris)
Mammalia OTOP3 34 35
  • 87.16 (n)
(Bos Taurus)
Mammalia OTOP3 34 35
  • 83.7 (n)
(Rattus norvegicus)
Mammalia Otop3 34
  • 82.74 (n)
(Mus musculus)
Mammalia Otop3 34 16 35
  • 82.5 (n)
(Monodelphis domestica)
Mammalia OTOP3 35
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia OTOP3 35
  • 69 (a)
(Gallus gallus)
Aves OTOP3 34 35
  • 69.22 (n)
(Anolis carolinensis)
Reptilia OTOP3 35
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731580 34
  • 56.42 (n)
Species where no ortholog for OTOP3 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)
  • 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
rs10531469 -- 74,936,958(+) CCCCC(-/A)CCCTT intron-variant
rs111308509 -- 74,937,987(+) AGACC(A/G)TGGGA intron-variant
rs111992383 -- 74,947,590(+) TGCTG(C/T)TTGAG intron-variant
rs112045175 -- 74,949,014(+) GCTGG(C/G)CACAG intron-variant
rs112067855 -- 74,942,538(+) AGGCA(C/T)AAGAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1056788 CNV gain 25217958
nsv457909 CNV gain 19166990
nsv470601 CNV loss 18288195
nsv518292 CNV loss 19592680
nsv952367 CNV deletion 24416366
nsv833540 CNV loss 17160897
nsv576026 CNV gain 21841781

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)

Relevant External Links for OTOP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  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 64
  3. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N. … Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008) 4 64
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 4 64
  5. 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 64

Products for OTOP3 Gene

Sources for OTOP3 Gene

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