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Aliases for OTOGL Gene

Aliases for OTOGL Gene

  • Otogelin Like 2 3 5
  • C12orf64 3 4
  • Chromosome 12 Open Reading Frame 64 2
  • Otogelin-Like Protein 3
  • Otogelin-Like 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 Non-Syndromic Genetic Deafness. Gene Ontology (GO) annotations related to this gene include alpha-L-arabinofuranosidase activity. An important paralog of this gene is OTOG.

Additional gene information for OTOGL Gene

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

Genomics for OTOGL Gene

GeneHancer (GH) Regulatory Elements for OTOGL Gene

Promoters and enhancers for OTOGL 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
GH12I080209 Promoter 0.5 EPDnew 550.2 +78.9 78895 0.1 OTOGL RN7SKP261
GH12I080185 Enhancer 1.2 Ensembl ENCODE 6.1 +56.8 56752 2.5 PKNOX1 ATF1 FOXA2 FEZF1 ZNF2 YY1 GLIS2 ZNF213 ZNF143 ATF7 OTOGL RN7SKP261
GH12I080226 Enhancer 0.5 ENCODE 8.6 +95.9 95877 0.7 STAT1 JUN BCL6B ZNF645 PRDM1 OTOGL RN7SKP261
GH12I080101 Enhancer 0.5 ENCODE 8.5 -29.2 -29186 0.2 NFIC SMAD1 NFIB IKZF1 ZNF350 SPI1 OTOGL RPL26P32 RNU7-106P
GH12I080032 Enhancer 0.4 ENCODE 10.2 -96.9 -96922 1.3 PKNOX1 RFX1 WT1 OTOGL LOC105369866 GC12M080054
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OTOGL on UCSC Golden Path with GeneCards custom track

Genomic Locations for OTOGL Gene

Genomic Locations for OTOGL Gene
chr12:80,130,502-80,379,090
(GRCh38/hg38)
Size:
248,589 bases
Orientation:
Plus strand
chr12:80,603,233-80,772,870
(GRCh37/hg19)

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

Post-translational modifications for OTOGL Gene

  • Glycosylation at Asn135, Asn425, isoforms=464, Asn817, Asn867, isoforms=1280, Asn1583, and Asn2177

No data available for DME Specific Peptides for OTOGL Gene

Domains & Families for OTOGL Gene

Gene Families for OTOGL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

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 :
  • Belongs to the otogelin family.
Family:
  • Belongs to the otogelin family.
genes like me logo Genes that share domains with OTOGL: view

Function for OTOGL Gene

Phenotypes From GWAS Catalog for OTOGL Gene

Gene Ontology (GO) - Molecular Function for OTOGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046556 alpha-L-arabinofuranosidase activity IEA --
genes like me logo Genes that share ontologies with OTOGL: view
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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
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 OTOGL gene
Compartment Confidence
extracellular 3
cytosol 3
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for OTOGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with OTOGL: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA --
GO:0008344 adult locomotory behavior IEA --
GO:0046373 L-arabinose metabolic process IEA --
genes like me logo Genes that share ontologies with OTOGL: view

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of OTOGL Gene:

OTOGL

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.

Evidence on tissue expression from TISSUES for OTOGL Gene

  • Heart(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OTOGL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with OTOGL: view

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
chimpanzee
(Pan troglodytes)
Mammalia OTOGL 33 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia OTOGL 33
  • 90.77 (n)
-- 34
  • 24 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia OTOGL 33 34
  • 90.12 (n)
rat
(Rattus norvegicus)
Mammalia Otogl 33
  • 84.73 (n)
mouse
(Mus musculus)
Mammalia Otogl 33 16 34
  • 84.62 (n)
oppossum
(Monodelphis domestica)
Mammalia OTOGL 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves OTOGL 33 34
  • 72.9 (n)
lizard
(Anolis carolinensis)
Reptilia OTOGL 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otogl 33
  • 69.17 (n)
zebrafish
(Danio rerio)
Actinopterygii otogl 33 34
  • 59.51 (n)
Species where no ortholog for OTOGL 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)
  • 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 Variation AA Info Type
rs145929269 likely-benign, uncertain-significance, not specified, not provided 80,358,862(+) T/C/G coding_sequence_variant, missense_variant
rs2034528 uncertain-significance, benign, not specified 80,358,880(+) A/G coding_sequence_variant, missense_variant
rs370730786 likely-pathogenic, Deafness, autosomal recessive 84b 80,302,784(+) G/A/T splice_donor_variant
rs397514588 pathogenic, Deafness, autosomal recessive 84b 80,229,341(+) C/T coding_sequence_variant, stop_gained
rs759174628 pathogenic, Nonsyndromic hearing loss and deafness 80,339,228(+) C/T coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
nsv832469 CNV loss 17160897
nsv832468 CNV gain 17160897
nsv559455 CNV loss 21841781
nsv559454 CNV loss 21841781
nsv521152 CNV loss 19592680
nsv1122749 CNV deletion 24896259
esv3630104 CNV loss 21293372
esv3580340 CNV loss 25503493
esv3549467 CNV deletion 23714750
esv2761752 CNV loss 21179565
esv2761110 CNV loss 21179565
esv2668723 CNV deletion 23128226
esv2665288 CNV deletion 23128226
dgv1530n100 CNV loss 25217958

Variation tolerance for OTOGL Gene

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

Additional Variant Information for OTOGL Gene

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

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

Disorders for OTOGL Gene

MalaCards: The human disease database

(7) MalaCards diseases for OTOGL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 84b
  • dfnb84b
non-syndromic genetic deafness
  • isolated genetic deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
nonsyndromic deafness
  • nonsyndromic hearing loss
deafness, autosomal dominant 13
  • dfna13
- 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.

Additional Disease Information for 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 KO … Tekin M (American journal of human genetics 2012) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss. (PMID: 25829320) Gu X … Li H (International journal of pediatric otorhinolaryngology 2015) 3 58
  4. Similar phenotypes caused by mutations in OTOG and OTOGL. (PMID: 24378291) Oonk AM … Pennings RJ (Ear and hearing 2014) 3 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 58

Products for OTOGL Gene

Sources for OTOGL Gene

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