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Aliases for OTOGL Gene

Aliases for OTOGL Gene

  • Otogelin-Like 2 3
  • C12orf64 3 4 6
  • DFNB84B 3 6
  • Chromosome 12 Open Reading Frame 64 2
  • Otogelin-Like Protein 3

External Ids for OTOGL Gene

Previous Symbols for OTOGL Gene

  • C12orf64

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

Genomic Location for OTOGL Gene

Start:
80,189,371 bp from pter
End:
80,379,090 bp from pter
Size:
189,720 bases
Orientation:
Plus strand

Genomic View for OTOGL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OTOGL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTOGL Gene

No data available for Regulatory Elements 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 Asn135, Asn425, Asn464, Asn817, Asn867, Asn1280, Asn1583, and Asn2177

Other Protein References for OTOGL Gene

No data available for DME Specific Peptides for OTOGL Gene

Domains for OTOGL Gene

Protein Domains for OTOGL Gene

UniProtKB/Swiss-Prot:

OTOGL_HUMAN
Domain:
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.:
    • Q3ZCN5
  • Contains 2 TIL (trypsin inhibitory-like) domains.:
    • Q3ZCN5
  • Contains 4 VWFD domains.:
    • Q3ZCN5
Family:
  • Belongs to the otogelin family.:
    • Q3ZCN5
genes like me logo Genes that share domains with OTOGL: view

No data available for Gene Families for OTOGL Gene

Function 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

miRNA for OTOGL Gene

miRTarBase miRNAs that target OTOGL

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for OTOGL Gene

Localization for OTOGL Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOGL Gene

Secreted.

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 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:0046373 L-arabinose metabolic process IEA --
genes like me logo Genes that share ontologies with OTOGL: view

No data available for Pathways by source for OTOGL Gene

Transcripts for OTOGL Gene

mRNA/cDNA 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 (14.9).

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 expressions with OTOGL: view

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 36
  • 99.5 (n)
  • 99.23 (a)
OTOGL 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OTOGL 36
  • 90.12 (n)
  • 90.15 (a)
OTOGL 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 24 (a)
ManyToMany
OTOGL 36
  • 90.77 (n)
  • 91.59 (a)
mouse
(Mus musculus)
Mammalia Otogl 36
  • 84.62 (n)
  • 87.48 (a)
Otogl 16
Otogl 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OTOGL 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 74 (a)
OneToMany
-- 37
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Otogl 36
  • 84.73 (n)
  • 87.16 (a)
chicken
(Gallus gallus)
Aves OTOGL 36
  • 72.9 (n)
  • 69.04 (a)
OTOGL 37
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTOGL 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otogl 36
  • 69.17 (n)
  • 65.81 (a)
zebrafish
(Danio rerio)
Actinopterygii otogl 36
  • 59.51 (n)
  • 55.13 (a)
otogl 37
  • 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

Selected 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 MAF
rs752250 -- 80,324,973(+) TTCAT(G/T)GGATT intron-variant
rs896202 -- 80,363,869(+) TCTAT(A/G)TTCAT intron-variant
rs896203 -- 80,363,938(+) TTCCC(A/T)AGTGG intron-variant
rs921417 -- 80,365,571(+) AAAGT(A/C)TTTGG intron-variant
rs921418 -- 80,365,619(+) TTTTA(A/G)CTCCA 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

Relevant External Links for OTOGL Gene

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

Disorders for OTOGL Gene

(1) OMIM Diseases for OTOGL Gene (614925)

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.
genes like me logo Genes that share disorders with OTOGL: view

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Similar phenotypes caused by mutations in OTOG and OTOGL. (PMID: 24378291) Oonk A.M. … Pennings R.J. (Ear Hear 2014) 3

Products for OTOGL Gene

Sources for OTOGL Gene

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