OTOP3 Gene (Protein Coding)

Otopetrin 3

GC17P074935
GIFtS:
27
See more...

Aliases for OTOP3 Gene

Aliases for OTOP3 Gene

  • Otopetrin 3 2 3 5
  • Proton Channel OTOP3 3 4
  • Otopetrin-3 4
  • OTOP3 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.

UniProtKB/Swiss-Prot Summary for OTOP3 Gene

  • Proton-selective channel that specifically transports protons into cells. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes.

Additional gene information for OTOP3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OTOP3 Gene

Genomics for OTOP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for OTOP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J074935 Promoter 0.5 EPDnew 250.7 +0.1 77 0.1 NRF1 EZH2 OTOP3 RF00017-2542 HID1
GH17J074967 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 12 +34.8 34795 5.6 ZBTB10 FOXA1 MNT ZNF217 ZIC2 THAP11 MBD2 FOXA2 VEZF1 SMAD4 HID1 HID1-AS1 OTOP3 KCTD2 RNU6-362P ATP5PD TTYH2 RF00017-2543 lnc-USH1G-3 MN298678-030
GH17J074989 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 11.1 +56.1 56094 4.2 CEBPB MAX SMAD4 SAP130 ZNF341 RARA TEAD3 POLR2A KDM1A SPI1 HID1 RNU6-362P OTOP3 KCTD2 ATP5PD FADS6 MRPL58 CDR2L RF00017-2544 MN298678-030
GH17J074791 Enhancer 0.9 ENCODE 11.1 -144.2 -144155 0.2 SP1 MNT DEK ZNF217 CTCF BHLHE40 THAP11 ARNT SIN3A REST GRIN2C FDXR FADS6 OTOP3 HSALNG0118685 RF00017-2541 TMEM104
GH17J074790 Enhancer 0.9 ENCODE 11.1 -144.6 -144564 0.6 SP1 MNT DEK ZNF217 CTCF BHLHE40 ZIC2 THAP11 ARNT REST RAB37 GRIN2C SLC9A3R1 FDXR FADS6 OTOP3 CD300LF HSALNG0118685 RF00017-2541 TMEM104
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OTOP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OTOP3

Top Transcription factor binding sites by QIAGEN in the OTOP3 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • CREB
  • deltaCREB
  • FOXO1
  • FOXO1a
  • Hlf
  • Nkx5-1
  • Pax-4a
  • ZID

Genomic Locations for OTOP3 Gene

Latest Assembly
chr17:74,935,802-74,949,993
(GRCh38/hg38)
Size:
14,192 bases
Orientation:
Plus strand

Previous Assembly
chr17:72,931,897-72,946,087
(GRCh37/hg19 by Entrez Gene)
Size:
14,191 bases
Orientation:
Plus strand

chr17:72,931,814-72,946,087
(GRCh37/hg19 by Ensembl)
Size:
14,274 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for OTOP3 Gene

Proteins for OTOP3 Gene

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  2. Protein products for research
  3. Assay products for research

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

    Protein Symbol:
    Q7RTS5-OTOP3_HUMAN
    Recommended name:
    Proton channel OTOP3
    Protein Accession:
    Q7RTS5

    Protein attributes for OTOP3 Gene

    Size:
    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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OTOP3 Gene

Domains & Families for OTOP3 Gene

Gene Families for OTOP3 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for OTOP3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OTOP3 Gene

GenScript: Design optimal peptide antigens:
  • Otopetrin-3 (OTOP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7RTS5

UniProtKB/Swiss-Prot:

OTOP3_HUMAN :
  • Belongs to the otopetrin family.
Family:
  • Belongs to the otopetrin family.
genes like me logo Genes that share domains with OTOP3: view

Function for OTOP3 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for OTOP3 Gene

UniProtKB/Swiss-Prot Function:
Proton-selective channel that specifically transports protons into cells. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes.

Phenotypes From GWAS Catalog for OTOP3 Gene

Gene Ontology (GO) - Molecular Function for OTOP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0015252 proton channel activity ISS --
genes like me logo Genes that share ontologies with OTOP3: view
genes like me logo Genes that share phenotypes with OTOP3: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTOP3

No data available for 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

Cell 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 OTOP3 gene
Compartment Confidence
plasma membrane 4
peroxisome 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for OTOP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OTOP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OTOP3 Gene

Pathways & Interactions for OTOP3 Gene

PathCards logo

SuperPathways for OTOP3 Gene

No Data Available

Interacting Proteins for OTOP3 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q7RTS5-OTOP3_HUMAN ENSP00000328090 for OTOP3 Gene via UniProtKB STRING

GPS-Prot Interaction Network for OTOP3

Gene Ontology (GO) - Biological Process for OTOP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:1902600 proton transmembrane transport ISS --
genes like me logo Genes that share ontologies with OTOP3: view

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

Drugs & Compounds for OTOP3 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for OTOP3 Gene

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mRNA/cDNA for OTOP3 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTOP3

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

No ASD Table

Relevant External Links for OTOP3 Gene

GeneLoc Exon Structure for
OTOP3

Expression for OTOP3 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OTOP3 Gene

mRNA expression in normal human tissues for OTOP3 Gene
mRNA expression by BioGPS for OTOP3 GenemRNA expression by GTEx 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OTOP3

SOURCE GeneReport for Unigene cluster for OTOP3 Gene:

Hs.454407
genes like me logo Genes that share expression patterns with OTOP3: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
 Mammalia OTOP3 30 31
  • 98.22 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia OTOP3 30 31
  • 87.16 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia OTOP3 30 31
  • 83.7 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Otop3 30
  • 82.74 (n)
Mouse
(Mus musculus)
 Mammalia Otop3 30 17 31
  • 82.5 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia OTOP3 31
  • 72 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia OTOP3 31
  • 69 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves OTOP3 30 31
  • 69.22 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia OTOP3 31
  • 62 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC101731580 30
  • 56.42 (n)
Species where no ortholog for OTOP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for OTOP3 (if available)
TreeFam:
Gene Tree for OTOP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OTOP3: view image

Paralogs for OTOP3 Gene

Paralogs for OTOP3 Gene

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

  • OTOP3_HUMAN
  • J3QS90_HUMAN
genes like me logo Genes that share paralogs with OTOP3: view

Variants for OTOP3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OTOP3 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1542752 - p.Ser199Pro
rs35131040 - p.Leu477Val
rs7210616 - p.Arg64Gln
rs9890664 - p.Arg146Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OTOP3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
nsv576026 CNV gain 21841781
nsv833540 CNV loss 17160897
nsv952367 CNV deletion 24416366

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)

Additional Variant Information for OTOP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTOP3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTOP3 Gene

Disorders for OTOP3 Gene

Additional Disease Information for OTOP3

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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 DM (Human molecular genetics 2003) 2 3 4
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. 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 (Investigative ophthalmology & visual science 2011) 3
  4. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N … Gygi SP (Proceedings of the National Academy of Sciences of the United States of America 2008) 4
  5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4

ExternalLinks

View latest publications for OTOP3 gene in Mastermind

Products for OTOP3 Gene

Sources for OTOP3 Gene