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Aliases for OTOR Gene

Aliases for OTOR Gene

  • Otoraplin 2 3 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. Diseases associated with OTOR include Malignant Melanoma, Somatic. An important paralog of this gene is MIA.

Gene Wiki entry 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

Regulatory Elements for OTOR Gene

Enhancers for OTOR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G016392 0.5 FANTOM5 2.4 -355.7 -355732 0.3 FOXK2 IKZF1 SPI1 OTOR GC20P016478 PPIAP17
GH20G016748 0.5 ENCODE 0.7 +0.4 358 0.2 ZNF197 ZNF175 FOXJ2 REST EZH2 OTOR ENSG00000236985
GH20G016759 0.8 ENCODE 0.4 +12.4 12381 1.6 CTCF ESRRA FOXA2 DNMT3B RAD21 TEAD3 CTBP1 GATA3 GATAD1 ZNF143 OTOR ENSG00000236985
GH20G016804 0.7 ENCODE 0.2 +55.8 55788 0.1 CTCF ZNF654 BHLHE40 TRIM22 REST RAD21 GATA3 U2AF1 SMC3 ZNF143 OTOR ENSG00000236985
GH20G016760 0.2 ENCODE 0.4 +11.0 10958 0.2 ENSG00000228809 SNRPB2 OTOR ENSG00000236985
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

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

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

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

Inhibitory RNA Products

Clone Products

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
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 --
genes like me logo Genes that share ontologies with OTOR: view

Pathways & Interactions for OTOR Gene

No Data Available

Interacting Proteins for OTOR Gene

Selected Interacting proteins: Q9NRC9-OTOR_HUMAN for OTOR Gene via IID

Gene Ontology (GO) - Biological Process for OTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001502 cartilage condensation IEA --
GO:0007605 sensory perception of sound TAS 10873378
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

Unigene Clusters for OTOR Gene

Otoraplin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 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:

OTOR

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.

Evidence on tissue expression from TISSUES for OTOR Gene

  • Nervous system(4)
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 , 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
chimpanzee
(Pan troglodytes)
Mammalia OTOR 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia OTOR 34 35
  • 88.8 (n)
dog
(Canis familiaris)
Mammalia OTOR 34 35
  • 87.5 (n)
mouse
(Mus musculus)
Mammalia Otor 34 16 35
  • 84.11 (n)
rat
(Rattus norvegicus)
Mammalia Otor 34
  • 83.85 (n)
oppossum
(Monodelphis domestica)
Mammalia OTOR 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTOR 34 35
  • 72.58 (n)
lizard
(Anolis carolinensis)
Reptilia OTOR 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otor 34
  • 69.67 (n)
zebrafish
(Danio rerio)
Actinopterygii mia2 35
  • 11 (a)
ManyToMany
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

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
rs1000507563 -- 16,751,990(+) AAGTG(A/T)GATAT utr-variant-3-prime
rs1001035878 -- 16,747,746(+) ATTGC(A/T)AAAGT upstream-variant-2KB
rs1001165553 -- 16,748,116(+) AAAGC(C/T)CTACT upstream-variant-2KB
rs1001371333 -- 16,747,026(+) CTCCC(C/T)TGAAA upstream-variant-2KB
rs1002150825 -- 16,747,331(+) GTCAC(A/G)TCATC upstream-variant-2KB

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)

Relevant External Links for OTOR Gene

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

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

Disorders for OTOR Gene

MalaCards: The human disease database

(1) MalaCards diseases for OTOR Gene - From: GeneCards

Disorder Aliases PubMed IDs
malignant melanoma, somatic
  • familial melanoma
- elite association - COSMIC cancer census association via MalaCards
Search OTOR in MalaCards View complete list of genes associated with diseases

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

No data available for 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 22 64
  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 4 22 64
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for OTOR Gene

Sources for OTOR Gene

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