OTOP3 Gene
protein-coding GIFtS: 41
GCID: GC17P072931
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otopetrin 3
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Aliases for OTOP3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Otopetrin 31 2 | | Otopetrin-31 |
Export aliases for OTOP3 gene to outside databasesPrevious GC identifers: GC17P073396 GC17P073529 GC17P070443 GC17P068342 |
Summaries for OTOP3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| -- |
Genomic Views for OTOP3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the OTOP3 gene promoter: Nkx5-1 C/EBPalpha CREB CHOP-10 deltaCREB FOXO1a ZID Pax-4a FOXO1 Hlf Other transcription factors
Search SABiosciences Chromatin IP Primers for OTOP3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTOP3 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q25.1 Ensembl cytogenetic band: 17q25.1 HGNC cytogenetic band: 17q25OTOP3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P072931: view genomic region
(about GC identifiers)
Start:
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72,931,814 bp from pter |
End:
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72,946,087 bp from pter |
Size:
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14,274 bases |
Orientation:
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plus strand |
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Proteins for OTOP3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: OTOP3_HUMAN, Q7RTS5 (See
protein sequence)Recommended Name: Otopetrin-3 Size: 596 amino acids; 66296 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)Explore the universe of human proteins at neXtProt for OTOP3: NX_Q7RTS5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7RTS5 OTOP3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001258934.1 NP_839947.1 ENSEMBL proteins: ENSP00000464577 ENSP00000328090 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005622 | intracellular |
-- | -- | | GO:0016021 | integral to membrane |
IEA | -- |
OTOP3 for ontologies About GeneDecksing
OTOP3 Antibody Products: Assay Products for OTOP3: |
Protein
Domains / Families for OTOP3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
OTOP3 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q7RTS5ProtoNet protein and cluster: Q7RTS5 UniProtKB/Swiss-Prot: OTOP3_HUMAN, Q7RTS5Similarity: Belongs to the otopetrin family |
Function for OTOP3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTOP3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTOP3 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: OTOP3 (NM_178233) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OTOP3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTOP3  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOP3 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008270 | zinc ion binding |
IEA | -- |
OTOP3 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for OTOP3: Animal Models: 2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Otop3):
OTOP3 for phenotypes About GeneDecksing
|
Pathways & Interactions for OTOP3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OTOP3
|
Drugs & Compounds for OTOP3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for OTOP3 Search CenterWatch for drugs/clinical trials and news about OTOP3 
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Transcripts for OTOP3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for OTOP3 gene (2 alternative transcripts): NM_001272005.1 NM_178233.2 Unigene Cluster for OTOP3: Otopetrin 3 Hs.454407 [show with all ESTs]Unigene Representative Sequence: AB5931532 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000580749(uc010wrq.2) ENST00000328801(uc010wrr.2)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTOP3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTOP3 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: OTOP3 (NM_178233) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OTOP3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTOP3  |
Additional cDNA sequence: AB593153.1 BC143799.1 2 DOTS entries: DT.97797297 DT.95071456 3 AceView cDNA sequences: NM_178233 BK000568 BQ188901 GeneLoc Exon Structure
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Expression for OTOP3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| OTOP3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: CACTCTGTGG
About this image See OTOP3 Protein Expression from SPIRE MOPED and PaxDB SOURCE GeneReport for Unigene cluster: Hs.454407 SABiosciences Custom PCR Arrays for OTOP3
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OTOP3 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OTOP3 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTOP3 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTOP3 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOP3 |
Orthologs for OTOP3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of animals.
Orthologs for OTOP3 gene from 6/18 species (see all 18) About this table
ENSEMBL Gene Tree for OTOP3 (if available) TreeFam Gene Tree for OTOP3 (if available)  |
Paralogs for OTOP3 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for OTOP3 gene
- OTOP22 OTOP12
2 SIMAP similar genes for OTOP3 using alignment to 2 protein entries: OTOP3_HUMAN (see all proteins):OTOP2 OTOP1
OTOP3 for paralogs About GeneDecksing
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Genomic Variants for OTOP3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 17 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for OTOP3 (72931814 - 72946087 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 5 variations for OTOP3 3 CNVs: 77715 88602 88601 2 Indels: 88603 77716  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OTOP3 |
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Disorders
/ Diseases for OTOP3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
OTOP3 for disorders About GeneDecksing
OMIM gene information: 607828
OMIM disorders: --
2 diseases for OTOP3: About MalaCardsvestibular disease usher syndrome 1 disease from the University of Copenhagen DISEASES database for OTOP3:Usher syndrome Export disorders for OTOP3 gene to outside databases
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Publications for OTOP3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for OTOP3 gene integrated from 9 sources: (articles sorted by number of sources associating them with OTOP3) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1. (PubMed id 12651873)1, 2, 3 Hurle B.... Ornitz D.M. (2003)
- Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1 Oshikawa M.... Kato S. (2011)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for OTOP3 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing OTOP3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
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Other Databases showing OTOP3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing OTOP3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for OTOP3 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for OTOP3 gene: Search GeneIP for patents involving OTOP3
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for OTOP3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for OTOP3 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTOP3 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OTOP3 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for OTOP3 | | Browse 3'-UTR reporter clones for miRNA target validation | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTOP3 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTOP3 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for OTOP3 | | OriGene Custom Protein Services for OTOP3 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OTOP3 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OTOP3 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTOP3 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTOP3 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTOP3 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTOP3 |
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| | | Search Tocris compounds for OTOP3 |
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 | | OTOP3 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOP3 |
|  |  |  | | | Search ThermoFisher Antibodies for OTOP3 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTOP3 |
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