Aliases for OTOP2 Gene

Aliases for OTOP2 Gene

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

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 and Retinitis Pigmentosa. 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 for OTOP2 Gene

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 1.2 EPDnew Ensembl 750.6 +0.2 238 0.4 CTCF ZNF148 ZFX SP7 NCOA6 EGR1 GLIS2 ZBTB8A PRDM10 ZNF143 OTOP2 USH1G RN7SL573P ENSG00000267342 UNK NUP85 TRIM65
GH17J074923 Promoter/Enhancer 1.2 Ensembl ENCODE 750.6 +0.7 738 0.2 CTCF L3MBTL2 MAX RAD21 ZNF148 GTF2F1 ELF3 ZFX AHR MLLT1 OTOP2 USH1G OTOP3
GH17J074920 Enhancer 0.7 Ensembl 750.6 -1.7 -1663 1.4 AHR SP7 GLIS2 ZIC2 ZBTB8A PATZ1 ZNF692 ZBTB20 SCRT2 SCRT1 OTOP2 USH1G piR-33422-180
GH17J074925 Promoter 0.6 EPDnew 750.6 +1.3 1320 0.1 IKZF1 PKNOX1 ZBTB8A EZH2 OTOP2 USH1G OTOP3
GH17J074924 Promoter 0.6 EPDnew 750.6 +1.7 1687 0.1 IKZF1 POLR2A EZH2 OTOP2 USH1G OTOP3
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for OTOP2 Gene
chr17:74,922,963-74,933,913
(GRCh38/hg38)
Size:
10,951 bases
Orientation:
Plus strand
chr17:72,920,370-72,930,007
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for OTOP2 Gene

Proteins for OTOP2 Gene

  • 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

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

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

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:0015252 proton channel activity ISS,IEA --
genes like me logo Genes that share ontologies with OTOP2: view
genes like me logo Genes that share phenotypes with OTOP2: view

Animal Model Products

CRISPR Products

Clone Products

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

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OTOP2 Gene

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 MINT STRING IID

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

No Compound Related Data Available

Transcripts for OTOP2 Gene

mRNA/cDNA for OTOP2 Gene

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

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for OTOP2 Gene

GeneLoc Exon Structure for
OTOP2
ECgene alternative splicing isoforms for
OTOP2

Expression for OTOP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of OTOP2 Gene:

OTOP2

SOURCE GeneReport for Unigene cluster for OTOP2 Gene:

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

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 33 32
  • 98.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OTOP2 33 32
  • 87.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OTOP2 32
  • 87.05 (n)
rat
(Rattus norvegicus)
Mammalia Otop2 32
  • 83.81 (n)
mouse
(Mus musculus)
Mammalia Otop2 17 33 32
  • 83.63 (n)
oppossum
(Monodelphis domestica)
Mammalia OTOP2 33
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OTOP2 33
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTOP2 33 32
  • 66.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTOP2 33
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496174 32
  • 59.61 (n)
zebrafish
(Danio rerio)
Actinopterygii otop2 33 32
  • 57.18 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42265 32
  • 46.77 (n)
Species where no ortholog for OTOP2 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)
  • 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)

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

Sequence variations from dbSNP and Humsavar for OTOP2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs104894651 pathogenic, Usher syndrome, type 1G 74,922,931(+) A/G upstream_transcript_variant
rs104894652 pathogenic, Usher syndrome, type 1G 74,922,961(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs145448362 uncertain-significance, not specified, not provided 74,922,991(+) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs148548570 A colorectal cancer sample 74,930,810(+) C/T coding_sequence_variant, missense_variant
rs570755897 uncertain-significance, Retinitis pigmentosa-deafness syndrome 74,923,246(+) C/A/G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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 Assay Products

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

Disorders for OTOP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for OTOP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
usher syndrome
  • retinitis pigmentosa-deafness syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
- 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

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 56
  2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 56
  3. The consensus coding sequences of human breast and colorectal cancers. (PMID: 16959974) Sjöblom T … Velculescu VE (Science (New York, N.Y.) 2006) 4 56

Products for OTOP2 Gene

Sources for OTOP2 Gene