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Aliases for OTOR Gene

Aliases for OTOR Gene

  • Otoraplin 2 3 5
  • Melanoma Inhibitory Activity-Like Protein 3 4
  • Fibrocyte-Derived 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-RAB4B.

Gene Wiki entry for OTOR Gene

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

Genomics for OTOR Gene

Regulatory Elements for OTOR Gene

Enhancers for OTOR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OTOR on UCSC Golden Path with GeneCards custom track

Genomic Location for OTOR Gene

Chromosome:
20
Start:
16,748,353 bp from pter
End:
16,770,062 bp from pter
Size:
21,710 bases
Orientation:
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:
    Q9NRC9-OTOR_HUMAN
    Recommended name:
    Otoraplin
    Protein Accession:
    Q9NRC9
    Secondary Accessions:
    • D3DW22
    • Q3MIU6

    Protein attributes for OTOR Gene

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

neXtProt entry for OTOR Gene

Proteomics data for OTOR Gene at MOPED

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

Protein Domains for OTOR Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for OTOR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NRC9

UniProtKB/Swiss-Prot:

OTOR_HUMAN :
  • Contains 1 SH3 domain.
  • Belongs to the MIA/OTOR family.
Domain:
  • Contains 1 SH3 domain.
Family:
  • Belongs to the MIA/OTOR family.
genes like me logo Genes that share domains with OTOR: view

No data available for Gene Families for OTOR Gene

Function for OTOR Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for OTOR

miRNA for OTOR Gene

miRTarBase miRNAs that target OTOR

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OTOR Gene COMPARTMENTS Subcellular localization image for OTOR gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for OTOR Gene

Pathways & Interactions for OTOR Gene

SuperPathways for OTOR Gene

No Data Available

Interacting Proteins for OTOR Gene

Gene Ontology (GO) - Biological Process for OTOR Gene

None

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

Unigene Clusters for OTOR Gene

Otoraplin:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: - -
SP2:

Relevant External Links for OTOR Gene

GeneLoc Exon Structure for
OTOR
ECgene alternative splicing isoforms for
OTOR

Expression for OTOR Gene

mRNA expression in normal human tissues 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).

SOURCE GeneReport for Unigene cluster for OTOR Gene Hs.41119

mRNA Expression by UniProt/SwissProt for OTOR Gene

Q9NRC9-OTOR_HUMAN
Tissue specificity: Highly expressed in cochlea.
genes like me logo Genes that share expression patterns with OTOR: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia OTOR 35
  • 88.8 (n)
  • 89.06 (a)
OTOR 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTOR 35
  • 87.5 (n)
  • 90.62 (a)
OTOR 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Otor 35
  • 84.11 (n)
  • 86.72 (a)
Otor 16
Otor 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OTOR 35
  • 100 (n)
  • 100 (a)
OTOR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otor 35
  • 83.85 (n)
  • 86.72 (a)
oppossum
(Monodelphis domestica)
Mammalia OTOR 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTOR 35
  • 72.58 (n)
  • 75 (a)
OTOR 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTOR 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otor 35
  • 69.67 (n)
  • 68.47 (a)
zebrafish
(Danio rerio)
Actinopterygii mia2 36
  • 11 (a)
ManyToMany
Species with no ortholog for OTOR:
  • 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

ENSEMBL:
Gene Tree for OTOR (if available)
TreeFam:
Gene Tree for OTOR (if available)

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 Sequence Context AA Info Type
rs6135876 - 16,748,493(+) GAAGC(C/T)CTGTG reference, missense
rs1018424 -- 16,747,351(-) ATGCC(C/T)TCTCC upstream-variant-2KB
rs1024183 -- 16,752,612(-) TGGGG(C/G/T)TGCTG downstream-variant-500B
rs1024184 -- 16,751,625(-) AGGCA(A/T)CAAAT downstream-variant-500B, utr-variant-3-prime
rs2092471 -- 16,750,321(+) AATGC(A/C)TACAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv90n6 CNV Loss 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)

Relevant External Links for OTOR Gene

Human Gene Mutation Database (HGMD)
OTOR

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

Disorders for OTOR Gene

Relevant External Links for OTOR

Genetic Association Database (GAD)
OTOR
Human Genome Epidemiology (HuGE) Navigator
OTOR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OTOR

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 N.G. … Morton C.C. (Genomics 2000) 2 3 4 23 67
  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 N.D. … Tommerup N. (Genomics 2001) 3 23
  3. Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder. (PMID: 23726511) Xie P. … Gelernter J. (Biol. Psychiatry 2013) 3
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3
  5. [Intervention of spiral ligament fibrocytes in the metabolic regulation of the inner ear]. (PMID: 19080786) GarcA-a Berrocal J.R. … RamA-rez Camacho R. (Acta Otorrinolaringol Esp 2008) 23

Products for OTOR Gene

Sources for OTOR Gene

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