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. [pr... See more...

Aliases for OTOGL Gene

Aliases for OTOGL Gene

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

External Ids for OTOGL Gene

Previous HGNC Symbols for OTOGL Gene

  • C12orf64

Previous GeneCards Identifiers for OTOGL Gene

  • GC12P080603
  • GC12P080189

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 Rare 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH12J080101 Enhancer 0.7 Ensembl ENCODE 508.9 +1.3 1264 1.6 NFIC SPI1 FOS NFIB JUN ZNF350 SMAD1 IKZF1 ZNF626 OTOGL RNU7-106P ENSG00000230291
GH12J080229 Enhancer 0.8 Ensembl 20.4 +130.7 130664 2 ZSCAN5C ZNF10 ZIC2 TRIM28 OSR2 ZNF524 POLR2A ZNF610 IKZF3 SCRT1 OTOGL piR-61532-076 HSALNG0092668
GH12J080185 Enhancer 1.1 Ensembl ENCODE 6 +88.7 88718 4.5 CTCF ZSCAN5C JUND FOS ZNF639 ZBTB11 ZNF510 TRIM28 RFX1 REST PTPRQ OTOGL piR-61532-076 HSALNG0092668
GH12J080226 Enhancer 0.7 Ensembl ENCODE 8.5 +126.7 126664 2 REST FOS BMI1 CBLL2 STAT1 GATA2 JUN BCL6B PRDM1 CEBPB OTOGL piR-61532-076 HSALNG0092668
GH12J080087 Enhancer 0.8 Ensembl 7.9 -11.7 -11736 0.4 TAF9B NFRKB ZNF316 MAFF TRIM24 MAFK ZNF592 PBX2 NFE2 EHMT2 OTOGL piR-52368-034
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OTOGL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OTOGL

Genomic Locations for OTOGL Gene

Genomic Locations for OTOGL Gene
chr12:80,099,537-80,380,879
(GRCh38/hg38)
Size:
281,343 bases
Orientation:
Plus strand
chr12:80,603,233-80,772,870
(GRCh37/hg19)
Size:
169,638 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11376.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for OTOGL Gene

Post-translational modifications for OTOGL Gene

  • Glycosylation at Asn135, Asn425, Asn464, Asn817, Asn867, Asn1280, Asn1583, and Asn2177
  • Modification sites at PhosphoSitePlus

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

Protein Domains for OTOGL Gene

Suggested Antigen Peptide Sequences for OTOGL Gene

GenScript: Design optimal peptide antigens:
  • Otogelin-like (OTOGL_HUMAN)

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

Animal Model Products

CRISPR Products

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
cytoskeleton 1
nucleus 1
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0

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

PathCards logo

SuperPathways for OTOGL Gene

No Data Available
;

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 and SIGNOR curated interactions for OTOGL Gene

Drugs & Compounds for OTOGL Gene

No Compound Related Data Available

Transcripts for OTOGL Gene

mRNA/cDNA for OTOGL Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for OTOGL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OTOGL 30
  • 90.77 (n)
-- 31
  • 24 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia OTOGL 31 30
  • 90.12 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otogl 30
  • 84.73 (n)
mouse
(Mus musculus)
Mammalia Otogl 17 31 30
  • 84.62 (n)
oppossum
(Monodelphis domestica)
Mammalia OTOGL 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves OTOGL 31 30
  • 72.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTOGL 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otogl 30
  • 69.17 (n)
zebrafish
(Danio rerio)
Actinopterygii otogl 31 30
  • 59.51 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for OTOGL: view image

Paralogs for OTOGL Gene

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

  • OTOGL_HUMAN
  • E2QRK2_HUMAN
  • H0YIF7_HUMAN
  • H0YIL4_HUMAN
  • H7BXL6_HUMAN
  • L8EBI8_HUMAN
genes like me logo Genes that share paralogs with OTOGL: view

Variants for OTOGL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OTOGL Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
39780 Pathogenic: Deafness, autosomal recessive 84b 80,342,167(+) G/A INTRON_VARIANT
594798 Uncertain Significance: not specified; not provided 80,336,799(+) T/A MISSENSE_VARIANT
595209 Uncertain Significance: not provided 80,355,870(+) A/T MISSENSE_VARIANT
635492 Likely Pathogenic: Deafness, autosomal recessive 84b 80,336,073(+) CTG/C FRAMESHIFT_VARIANT
669384 Likely Benign: not provided 80,219,804(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for OTOGL Gene

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

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

Additional Variant Information for OTOGL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for OTOGL Gene

MalaCards: The human disease database

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

- 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) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 54
  4. Similar phenotypes caused by mutations in OTOG and OTOGL. (PMID: 24378291) Oonk AM … Pennings RJ (Ear and hearing 2014) 3 54
  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 54

Products for OTOGL Gene

Sources for OTOGL Gene