OTOP2 Gene (Protein Coding)

Otopetrin 2

GC17P074924
GIFtS:
31
See more...

Aliases for OTOP2 Gene

Aliases for OTOP2 Gene

  • Otopetrin 2 2 3 5
  • Proton Channel OTOP2 3 4
  • Otopetrin-2 4
  • OTOP2 5

External Ids for OTOP2 Gene

Previous GeneCards Identifiers for OTOP2 Gene

  • GC17P073384
  • GC17P073517
  • GC17P070431
  • GC17P072922
  • GC17P068330

Summaries for OTOP2 Gene

GeneCards Summary for OTOP2 Gene

OTOP2 (Otopetrin 2) is a Protein Coding gene. Diseases associated with OTOP2 include Usher Syndrome. An important paralog of this gene is OTOP3.

UniProtKB/Swiss-Prot Summary for OTOP2 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 OTOP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OTOP2 Gene

Genomics for OTOP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for OTOP2 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
GH17J074926 Promoter 1.3 EPDnew Ensembl 250.7 +0.3 251 0.4 MNT CTCF VEZF1 KLF9 FOSL1 PRDM10 KLF16 ZNF2 FOXM1 TFDP1 USH1G OTOP2
GH17J074923 Promoter/Enhancer 1.2 Ensembl ENCODE 250.7 +0.8 751 0.2 MXD4 MNT CTCF BHLHE40 THAP11 REST ZNF511 MAX VEZF1 SMAD4 USH1G OTOP2 OTOP3
GH17J074925 Promoter 0.6 EPDnew 250.7 +1.3 1333 0.1 IKZF1 TFDP1 MEIS2 ZBTB8A PKNOX1 EZH2 USH1G OTOP2 OTOP3
GH17J074924 Promoter 0.6 EPDnew 250.7 +1.7 1700 0.1 IKZF1 EZH2 POLR2A USH1G OTOP2 OTOP3
GH17J074919 Enhancer 0.6 Ensembl 0.7 -3.3 -3262 0.6 REST CTCF RAD21 RARA SMC3 MBD1 HBP1 HNRNPL NR2F6 L3MBTL2 USH1G OTOP2 piR-33422-180 FADS6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OTOP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OTOP2

Top Transcription factor binding sites by QIAGEN in the OTOP2 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • CREB
  • deltaCREB
  • FOXO1
  • FOXO1a
  • Hlf
  • Nkx5-1
  • Pax-4a
  • ZID

Genomic Locations for OTOP2 Gene

Latest Assembly
chr17:74,922,950-74,933,913
(GRCh38/hg38)
Size:
10,964 bases
Orientation:
Plus strand

Previous Assembly
chr17:72,920,368-72,930,007
(GRCh37/hg19 by Entrez Gene)
Size:
9,640 bases
Orientation:
Plus strand

chr17:72,920,370-72,930,007
(GRCh37/hg19 by Ensembl)
Size:
9,638 bases
Orientation:
Plus strand

Genomic View for OTOP2 Gene

Genes around OTOP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTOP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTOP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for OTOP2 Gene

Proteins for OTOP2 Gene

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

  • Protein details for OTOP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTS6-OTOP2_HUMAN
    Recommended name:
    Proton channel OTOP2
    Protein Accession:
    Q7RTS6

    Protein attributes for OTOP2 Gene

    Size:
    562 amino acids
    Molecular mass:
    62236 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OTOP2 Gene

Protein Expression for OTOP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for OTOP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OTOP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OTOP2 Gene

Domains & Families for OTOP2 Gene

Gene Families for OTOP2 Gene

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

Protein Domains for OTOP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OTOP2 Gene

GenScript: Design optimal peptide antigens:
  • Otopetrin-2 (OTOP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7RTS6

UniProtKB/Swiss-Prot:

OTOP2_HUMAN :
  • Belongs to the otopetrin family.
Family:
  • Belongs to the otopetrin family.
genes like me logo Genes that share domains with OTOP2: view

Function for OTOP2 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 OTOP2 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 OTOP2 Gene

Gene Ontology (GO) - Molecular Function for OTOP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0015252 proton channel activity IEA,ISS --
genes like me logo Genes that share ontologies with OTOP2: view
genes like me logo Genes that share phenotypes with OTOP2: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTOP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OTOP2 Gene

Localization for OTOP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOP2 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 OTOP2 gene
Compartment Confidence
plasma membrane 4
extracellular 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OTOP2 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 OTOP2: view

Pathways & Interactions for OTOP2 Gene

PathCards logo

SuperPathways for OTOP2 Gene

No Data Available

Interacting Proteins for OTOP2 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q7RTS6-OTOP2_HUMAN ENSP00000332528 for OTOP2 Gene via UniProtKB MINT STRING IID

GPS-Prot Interaction Network for OTOP2

Gene Ontology (GO) - Biological Process for OTOP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:1902600 proton transmembrane transport IEA,ISS --
genes like me logo Genes that share ontologies with OTOP2: view

No data available for Pathways by source and SIGNOR curated interactions for OTOP2 Gene

Drugs & Compounds for OTOP2 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for OTOP2 Gene

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  2. miRNA products for research
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mRNA/cDNA for OTOP2 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
3 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 OTOP2

Alternative Splicing Database (ASD) splice patterns (SP) for OTOP2 Gene

No ASD Table

Relevant External Links for OTOP2 Gene

GeneLoc Exon Structure for
OTOP2

Expression for OTOP2 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 OTOP2 Gene

mRNA expression in normal human tissues for OTOP2 Gene
mRNA expression by GTEx for OTOP2 GenemRNA expression by BioGPS for OTOP2 Gene

mRNA differential expression in normal tissues according to GTEx for OTOP2 Gene

This gene is overexpressed in Colon - Transverse (x35.4) and Testis (x8.4).

Protein differential expression in normal tissues from HIPED for OTOP2 Gene

This gene is overexpressed in Platelet (54.9) and Placenta (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OTOP2 Gene



Protein tissue co-expression partners for OTOP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OTOP2

SOURCE GeneReport for Unigene cluster for OTOP2 Gene:

Hs.352515
genes like me logo Genes that share expression patterns with OTOP2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OTOP2 Gene

Orthologs for OTOP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for OTOP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia OTOP2 30 31
  • 98.65 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia OTOP2 30 31
  • 87.34 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia OTOP2 30
  • 87.05 (n)
Rat
(Rattus norvegicus)
 Mammalia Otop2 30
  • 83.81 (n)
Mouse
(Mus musculus)
 Mammalia Otop2 30 17 31
  • 83.63 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia OTOP2 31
  • 75 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia OTOP2 31
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves OTOP2 30 31
  • 66.24 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia OTOP2 31
  • 54 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100496174 30
  • 59.61 (n)
Zebrafish
(Danio rerio)
 Actinopterygii otop2 30 31
  • 57.18 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG42265 30
  • 46.77 (n)
Species where no ortholog for OTOP2 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)
  • 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)

Evolution for OTOP2 Gene

ENSEMBL:
Gene Tree for OTOP2 (if available)
TreeFam:
Gene Tree for OTOP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OTOP2: view image

Paralogs for OTOP2 Gene

Paralogs for OTOP2 Gene

(2) SIMAP similar genes for OTOP2 Gene using alignment to 1 proteins:

  • OTOP2_HUMAN
genes like me logo Genes that share paralogs with OTOP2: view

Variants for OTOP2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OTOP2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
891906 Uncertain Significance: Usher syndrome, type 1G 74,923,149(+) T/C
NM_173477.5(USH1G):c.-76A>G 		FIVE_PRIME_UTR
964294 Pathogenic: not provided 74,922,961(+) CAG/C
NM_173477.5(USH1G):c.111_112del (p.Trp38fs) 		FRAMESHIFT_VARIANT,FIVE_PRIME_UTR
rs104894652 Pathogenic: Usher syndrome, type 1G 74,922,961(+) C/T
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) 		NONSENSE,FIVE_PRIME_UTR
rs141455683 Benign: not provided 74,930,587(+) G/A
NM_178160.3(OTOP2):c.952G>A (p.Gly318Arg) 		MISSENSE
rs145448362 Conflicting Interpretations: Usher syndrome, type 1G; not specified; not provided 74,922,991(+) G/A
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) 		MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OTOP2 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 OTOP2 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 OTOP2 Gene

Residual Variation Intolerance Score: 33.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OTOP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTOP2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTOP2 Gene

Disorders for OTOP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OTOP2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
usher syndrome
  • deafness-retinitis pigmentosa syndrome
- elite association - COSMIC cancer census association via MalaCards
Search OTOP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OTOP2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with OTOP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OTOP2 Gene

Publications for OTOP2 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. Wild-type p53 regulates OTOP2 transcription through DNA loop alteration of the promoter in colorectal cancer. (PMID: 30652071) Qu H … Xin C (FEBS open bio 2019) 3
  4. The consensus coding sequences of human breast and colorectal cancers. (PMID: 16959974) Sjöblom T … Velculescu VE (Science (New York, N.Y.) 2006) 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 OTOP2 gene in Mastermind

Products for OTOP2 Gene

Sources for OTOP2 Gene