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Aliases for OTOGL Gene

Aliases for OTOGL Gene

  • Otogelin Like 2 3
  • Otogelin-Like 2 3 5
  • C12orf64 3 4
  • Chromosome 12 Open Reading Frame 64 2
  • DFNB84B 3

External Ids for OTOGL Gene

Previous HGNC Symbols for OTOGL Gene

  • C12orf64

Previous GeneCards Identifiers for OTOGL Gene

  • GC12P080603

Summaries for OTOGL Gene

Entrez Gene Summary for OTOGL Gene

  • The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]

GeneCards Summary for OTOGL Gene

OTOGL (Otogelin Like) is a Protein Coding gene. Diseases associated with OTOGL include deafness, autosomal recessive 84b and autosomal recessive non-syndromic sensorineural deafness type dfnb. GO annotations related to this gene include alpha-L-arabinofuranosidase activity. An important paralog of this gene is OTOG.

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

Genomics for OTOGL Gene

Regulatory Elements for OTOGL Gene

Enhancers for OTOGL 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 OTOGL on UCSC Golden Path with GeneCards custom track

Genomic Location for OTOGL Gene

Chromosome:
12
Start:
80,130,502 bp from pter
End:
80,379,090 bp from pter
Size:
248,589 bases
Orientation:
Plus strand

Genomic View for OTOGL Gene

Genes around OTOGL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for OTOGL Gene

Proteins for OTOGL Gene

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

    Protein Symbol:
    Q3ZCN5-OTOGL_HUMAN
    Recommended name:
    Otogelin-like protein
    Protein Accession:
    Q3ZCN5
    Secondary Accessions:
    • F8W0C3
    • Q495U8
    • Q8N8G5
    • Q8NC28

    Protein attributes for OTOGL Gene

    Size:
    2332 amino acids
    Molecular mass:
    262091 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04877.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11376.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for OTOGL Gene

Proteomics data for OTOGL Gene at MOPED

Post-translational modifications for OTOGL Gene

  • Glycosylation at Asn 135, Asn 425, Asn 464, Asn 817, Asn 867, Asn 1280, Asn 1583, and Asn 2177
  • Modification sites at PhosphoSitePlus

Other Protein References for OTOGL Gene

No data available for DME Specific Peptides for OTOGL Gene

Domains & Families for OTOGL Gene

Protein Domains for OTOGL Gene

Suggested Antigen Peptide Sequences for OTOGL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3ZCN5

UniProtKB/Swiss-Prot:

OTOGL_HUMAN :
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.
  • Belongs to the otogelin family.
Domain:
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.
  • Contains 2 TIL (trypsin inhibitory-like) domains.
  • Contains 4 VWFD domains.
Family:
  • Belongs to the otogelin family.
genes like me logo Genes that share domains with OTOGL: view

No data available for Gene Families for OTOGL Gene

Function for OTOGL Gene

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

Human Phenotype Ontology for OTOGL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for OTOGL Gene

miRTarBase miRNAs that target OTOGL

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for OTOGL Gene

Localization for OTOGL Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOGL Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OTOGL Gene COMPARTMENTS Subcellular localization image for OTOGL gene
Compartment Confidence
cytosol 3
extracellular 3
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

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

Pathways & Interactions for OTOGL Gene

SuperPathways for OTOGL Gene

No Data Available

Interacting Proteins for OTOGL Gene

Gene Ontology (GO) - Biological Process for OTOGL Gene

None

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

Drugs & Compounds for OTOGL Gene

No Compound Related Data Available

Transcripts for OTOGL Gene

Unigene Clusters for OTOGL Gene

Otogelin-like:
Representative Sequences:

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

No ASD Table

Relevant External Links for OTOGL Gene

GeneLoc Exon Structure for
OTOGL
ECgene alternative splicing isoforms for
OTOGL

Expression for OTOGL Gene

mRNA expression in normal human tissues for OTOGL Gene

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

This gene is overexpressed in Heart - Atrial Appendage (x14.9).

SOURCE GeneReport for Unigene cluster for OTOGL Gene Hs.723594

mRNA Expression by UniProt/SwissProt for OTOGL Gene

Q3ZCN5-OTOGL_HUMAN
Tissue specificity: Expressed at high levels in fetal inner ear and heart. Low levels in fetal skeletal muscle, kidney, spleen and colon. Not detected in fetal liver, lung, brain, nor in fetal stomach. In adult tissues, highest levels in brain, kidney, heart and retina. Relatively low levels in lung, spleen and duodenum. Not detected in adult skeletal muscle, liver, nor testis.
genes like me logo Genes that share expression patterns with OTOGL: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for OTOGL Gene

Orthologs for OTOGL Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTOGL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia OTOGL 35
  • 90.12 (n)
  • 90.15 (a)
OTOGL 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTOGL 35
  • 90.77 (n)
  • 91.59 (a)
-- 36
  • 24 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Otogl 35
  • 84.62 (n)
  • 87.48 (a)
Otogl 16
Otogl 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OTOGL 35
  • 99.5 (n)
  • 99.23 (a)
OTOGL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otogl 35
  • 84.73 (n)
  • 87.16 (a)
oppossum
(Monodelphis domestica)
Mammalia OTOGL 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves OTOGL 35
  • 72.9 (n)
  • 69.04 (a)
OTOGL 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTOGL 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otogl 35
  • 69.17 (n)
  • 65.81 (a)
zebrafish
(Danio rerio)
Actinopterygii otogl 35
  • 59.51 (n)
  • 55.13 (a)
otogl 36
  • 49 (a)
OneToOne
Species with no ortholog for OTOGL:
  • 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)
  • 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 OTOGL Gene

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

Paralogs for OTOGL Gene

Paralogs for OTOGL Gene

(1) SIMAP similar genes for OTOGL Gene using alignment to 6 proteins:

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

Variants for OTOGL Gene

Sequence variations from dbSNP and Humsavar for OTOGL Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_038388 A breast cancer sample
VAR_069040 -
rs1961724 -- 80,142,249(+) ATATC(A/G)TAGAT intron-variant
rs1979134 -- 80,345,052(-) tataa(C/T)atata intron-variant
rs1979135 -- 80,345,037(-) TATAT(A/G)TTATA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832468 CNV Gain 17160897
esv2668723 CNV Deletion 23128226
esv2665288 CNV Deletion 23128226
nsv521152 CNV Loss 19592680
nsv832469 CNV Loss 17160897

Variation tolerance for OTOGL Gene

Gene Damage Index Score: 22.34; 99.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OTOGL Gene

HapMap Linkage Disequilibrium report
OTOGL
Human Gene Mutation Database (HGMD)
OTOGL

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

Disorders for OTOGL Gene

MalaCards: The human disease database

(2) MalaCards diseases for OTOGL Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 84b
  • deafness, autosomal recessive, 84b
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards
Search OTOGL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OTOGL_HUMAN
  • Deafness, autosomal recessive, 84B (DFNB84B) [MIM:614944]: A form of non-syndromic deafness characterized by congenital, non-progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed. {ECO:0000269 PubMed:23122586}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for OTOGL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OTOGL
genes like me logo Genes that share disorders with OTOGL: view

No data available for Genatlas for OTOGL Gene

Publications for OTOGL Gene

  1. Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. (PMID: 23122586) Yariz K.O. … Tekin M. (Am. J. Hum. Genet. 2012) 3 4 67
  2. Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss. (PMID: 25829320) Gu X. … Li H. (Int. J. Pediatr. Otorhinolaryngol. 2015) 3
  3. Similar phenotypes caused by mutations in OTOG and OTOGL. (PMID: 24378291) Oonk A.M. … Pennings R.J. (Ear Hear 2014) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for OTOGL Gene

Sources for OTOGL Gene

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