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Aliases for OTOR Gene

Aliases for OTOR Gene

  • Otoraplin 2 3 3 5
  • Fibrocyte-Derived Protein 2 3 4
  • Melanoma Inhibitory Activity-Like Protein 3 4
  • FDP 3 4
  • MIAL1 3
  • MIAL 4

External Ids for OTOR Gene

Previous GeneCards Identifiers for OTOR Gene

  • GC20P016717
  • GC20P016724
  • GC20P016677

Summaries for OTOR Gene

Entrez Gene Summary for OTOR Gene

  • This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013]

GeneCards Summary for OTOR Gene

OTOR (Otoraplin) is a Protein Coding gene. An important paralog of this gene is MIA.

Gene Wiki entry for OTOR Gene

Additional gene information for OTOR Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTOR Gene

Genomics for OTOR Gene

GeneHancer (GH) Regulatory Elements for OTOR Gene

Promoters and enhancers for OTOR Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J016748 Enhancer 0.2 ENCODE 650.7 +0.4 358 0.2 OTOR ENSG00000236985
GH20J016392 Enhancer 0.5 FANTOM5 2.4 -355.7 -355731 0.3 FOXK2 IKZF1 ATF7 IKZF2 SPI1 OTOR GC20P016478 PPIAP17 KIF16B
GH20J016759 Enhancer 0.8 ENCODE 0.4 +12.4 12381 1.6 FOXA2 DNMT3B RAD21 ZNF335 ZNF143 MIXL1 SMARCA5 ZNF654 ZBTB25 REST OTOR ENSG00000236985
GH20J016804 Enhancer 0.6 ENCODE 0.2 +55.8 55788 0.1 CTCF ZNF654 USF1 BHLHE40 TRIM22 REST RAD21 XRCC5 GATA3 SMC3 OTOR ENSG00000236985
GH20J016760 Enhancer 0.2 ENCODE 0.4 +11.0 10958 0.2 SNRPB2 ENSG00000228809 OTOR ENSG00000236985
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OTOR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OTOR gene promoter:
  • aMEF-2
  • AP-1
  • MEF-2A
  • FOXJ2 (long isoform)
  • FOXJ2
  • FOXF2
  • FOXL1
  • PPAR-gamma1

Genomic Locations for OTOR Gene

Genomic Locations for OTOR Gene
21,710 bases
Plus strand
21,705 bases
Plus strand

Genomic View for OTOR Gene

Genes around OTOR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for OTOR Gene

Proteins for OTOR Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • D3DW22
    • Q3MIU6

    Protein attributes for OTOR Gene

    128 amino acids
    Molecular mass:
    14332 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OTOR Gene

Post-translational modifications for OTOR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OTOR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OTOR Gene

Domains & Families for OTOR Gene

Gene Families for OTOR Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for OTOR Gene

Suggested Antigen Peptide Sequences for OTOR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the MIA/OTOR family.
  • Belongs to the MIA/OTOR family.
genes like me logo Genes that share domains with OTOR: view

Function for OTOR Gene

Phenotypes From GWAS Catalog for OTOR Gene

Gene Ontology (GO) - Molecular Function for OTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0042954 lipoprotein transporter activity IBA --
genes like me logo Genes that share ontologies with OTOR: view
genes like me logo Genes that share phenotypes with OTOR: view

Animal Model Products

  • Taconic Biosciences Mouse Models for OTOR

CRISPR Products

miRNA for OTOR Gene

miRTarBase miRNAs that target OTOR

Inhibitory RNA Products

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

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

Localization for OTOR Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOR Gene


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 OTOR gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for OTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005789 endoplasmic reticulum membrane IBA --
GO:0070971 endoplasmic reticulum exit site IBA --
genes like me logo Genes that share ontologies with OTOR: view

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

Pathways & Interactions for OTOR Gene

No Data Available

Interacting Proteins for OTOR Gene

Gene Ontology (GO) - Biological Process for OTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001502 cartilage condensation IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IBA --
GO:0007605 sensory perception of sound TAS 10873378
GO:0009306 protein secretion IBA --
GO:0035459 cargo loading into vesicle IBA --
genes like me logo Genes that share ontologies with OTOR: view

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

Drugs & Compounds for OTOR Gene

No Compound Related Data Available

Transcripts for OTOR Gene

mRNA/cDNA for OTOR Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(33) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OTOR Gene

Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: - -

Relevant External Links for OTOR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OTOR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Substantia nigra (x18.8) and Stomach (x4.8).

NURSA nuclear receptor signaling pathways regulating expression of OTOR Gene:


SOURCE GeneReport for Unigene cluster for OTOR Gene:


mRNA Expression by UniProt/SwissProt for OTOR Gene:

Tissue specificity: Highly expressed in cochlea.

Evidence on tissue expression from TISSUES for OTOR Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with OTOR: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for OTOR Gene

Orthologs for OTOR Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTOR Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia OTOR 34 33
  • 100 (n)
(Bos Taurus)
Mammalia OTOR 34 33
  • 88.8 (n)
(Canis familiaris)
Mammalia OTOR 34 33
  • 87.5 (n)
(Mus musculus)
Mammalia Otor 16 34 33
  • 84.11 (n)
(Rattus norvegicus)
Mammalia Otor 33
  • 83.85 (n)
(Monodelphis domestica)
Mammalia OTOR 34
  • 80 (a)
(Gallus gallus)
Aves OTOR 34 33
  • 72.58 (n)
(Anolis carolinensis)
Reptilia OTOR 34
  • 58 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia otor 33
  • 69.67 (n)
(Danio rerio)
Actinopterygii mia2 34
  • 11 (a)
Species where no ortholog for OTOR 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 OTOR Gene

Gene Tree for OTOR (if available)
Gene Tree for OTOR (if available)
Evolutionary constrained regions (ECRs) for OTOR: view image

Paralogs for OTOR Gene

Paralogs for OTOR Gene

(4) SIMAP similar genes for OTOR Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with OTOR: view

Variants for OTOR Gene

Sequence variations from dbSNP and Humsavar for OTOR Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs17686437 benign, not specified 16,748,403(+) T/C initiator_codon_variant, missense_variant
rs1000507563 -- 16,751,990(+) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001035878 -- 16,747,746(+) A/T upstream_transcript_variant
rs1001165553 -- 16,748,116(+) C/T upstream_transcript_variant
rs1001371333 -- 16,747,026(+) T/C upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv90n6 CNV deletion 16902084

Variation tolerance for OTOR Gene

Residual Variation Intolerance Score: 67.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.40; 88.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OTOR Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for OTOR Gene

Additional Disease Information for OTOR

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for OTOR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OTOR Gene

Publications for OTOR Gene

  1. A novel conserved cochlear gene, OTOR: identification, expression analysis, and chromosomal mapping. (PMID: 10873378) Robertson NG … Morton CC (Genomics 2000) 2 3 4 22 58
  2. Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation. (PMID: 11161796) Rendtorff ND … Tommerup N (Genomics 2001) 3 4 22 58
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for OTOR Gene

Sources for OTOR Gene

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