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    OTOGL otogelin like [ Homo sapiens (human) ]

    Gene ID: 283310, updated on 2-Nov-2024

    Summary

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    Official Symbol
    OTOGLprovided by HGNC
    Official Full Name
    otogelin likeprovided by HGNC
    Primary source
    HGNC:HGNC:26901
    See related
    Ensembl:ENSG00000165899 MIM:614925; AllianceGenome:HGNC:26901
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNB84B; C12orf64
    Summary
    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]
    Expression
    Biased expression in kidney (RPKM 2.9), heart (RPKM 0.7) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OTOGL in Genome Data Viewer
    Location:
    12q21.31
    Exon count:
    68
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (80099537..80380880)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (80078300..80359482)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (80493317..80774660)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 pseudogene 38 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80477061-80477602 Neighboring gene RNA, U7 small nuclear 106 pseudogene Neighboring gene ribosomal protein L26 pseudogene 32 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80543056-80543602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80643124-80643716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80643717-80644308 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:80713982-80714515 Neighboring gene RN7SK pseudogene 261 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:80864089-80864632 Neighboring gene uncharacterized LOC124902975 Neighboring gene protein tyrosine phosphatase receptor type Q Neighboring gene uncharacterized LOC105369867 Neighboring gene akirin 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene]. Feng ML, et al. Zhonghua Yi Xue Za Zhi, 2021 Jan 12. PMID 33455126
    2. Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss. Gu X, et al. Int J Pediatr Otorhinolaryngol, 2015 Jun. PMID 25829320
    3. Similar phenotypes caused by mutations in OTOG and OTOGL. Oonk AM, et al. Ear Hear, 2014 May-Jun. PMID 24378291, Free PMC Article
    4. Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. Yariz KO, et al. Am J Hum Genet, 2012 Nov 2. PMID 23122586, Free PMC Article
    5. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].
      Title: [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].
    2. We identified novel biallelic OTOGL mutations in a Chinese autosomal recessive non-syndromic hearing loss family.
      Title: Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss.
    3. Patients with OTOGL mutation show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good and vestibular hyporeflexia is present.
      Title: Similar phenotypes caused by mutations in OTOG and OTOGL.
    4. OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss.
      Title: Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 84B
    MedGen: C3554159 OMIM: 614944 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90579, MGC119410

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-L-arabinofuranosidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-arabinose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner ear receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vibrational conductance of sound to the inner ear IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    otogelin-like protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033008.2 RefSeqGene

      Range
      5002..286345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001368062.3 → NP_001354991.2  otogelin-like protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC078817, AC083812, AC092945
      Consensus CDS
      CCDS91731.1
      UniProtKB/TrEMBL
      A0A2R8YF04
      Related
      ENSP00000496036.1, ENST00000646859.1
      Conserved Domains (7) summary
      smart00041
      Location:2232 → 2308
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00216
      Location:121 → 268
      VWD; von Willebrand factor (vWF) type D domain
      smart00832
      Location:1688 → 1757
      C8; This domain contains 8 conserved cysteine residues
      pfam08742
      Location:677 → 741
      C8; C8 domain
      cd19941
      Location:745 → 800
      TIL; trypsin inhibitor-like cysteine rich domain
      cl02516
      Location:939 → 1049
      VWD; von Willebrand factor type D domain
      cl23781
      Location:1227 → 1314
      Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

    2. NM_001378609.3 → NP_001365538.2  otogelin-like protein isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC078817, AC083812, AC092945
      Consensus CDS
      CCDS91730.1
      UniProtKB/Swiss-Prot
      F8W0C3, Q3ZCN5, Q495U8, Q8N8G5, Q8NC28
      Related
      ENSP00000447211.2, ENST00000547103.7
      Conserved Domains (7) summary
      smart00041
      Location:2277 → 2353
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00216
      Location:121 → 268
      VWD; von Willebrand factor (vWF) type D domain
      smart00832
      Location:1733 → 1802
      C8; This domain contains 8 conserved cysteine residues
      pfam08742
      Location:677 → 741
      C8; C8 domain
      cd19941
      Location:745 → 800
      TIL; trypsin inhibitor-like cysteine rich domain
      cl02516
      Location:1526 → 1699
      VWD; von Willebrand factor type D domain
      cl23781
      Location:1272 → 1359
      Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

    3. NM_001378610.3 → NP_001365539.2  otogelin-like protein isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC078817, AC083812, AC092945
      Consensus CDS
      CCDS91730.1
      UniProtKB/Swiss-Prot
      F8W0C3, Q3ZCN5, Q495U8, Q8N8G5, Q8NC28
      Conserved Domains (7) summary
      smart00041
      Location:2277 → 2353
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00216
      Location:121 → 268
      VWD; von Willebrand factor (vWF) type D domain
      smart00832
      Location:1733 → 1802
      C8; This domain contains 8 conserved cysteine residues
      pfam08742
      Location:677 → 741
      C8; C8 domain
      cd19941
      Location:745 → 800
      TIL; trypsin inhibitor-like cysteine rich domain
      cl02516
      Location:1526 → 1699
      VWD; von Willebrand factor type D domain
      cl23781
      Location:1272 → 1359
      Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

    4. NM_173591.7 → NP_775862.4  otogelin-like protein isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC078817, AC083812, AC092945
      Consensus CDS
      CCDS91730.1
      UniProtKB/Swiss-Prot
      F8W0C3, Q3ZCN5, Q495U8, Q8N8G5, Q8NC28
      Conserved Domains (7) summary
      smart00041
      Location:2277 → 2353
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00216
      Location:121 → 268
      VWD; von Willebrand factor (vWF) type D domain
      smart00832
      Location:1733 → 1802
      C8; This domain contains 8 conserved cysteine residues
      pfam08742
      Location:677 → 741
      C8; C8 domain
      cd19941
      Location:745 → 800
      TIL; trypsin inhibitor-like cysteine rich domain
      cl02516
      Location:1526 → 1699
      VWD; von Willebrand factor type D domain
      cl23781
      Location:1272 → 1359
      Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      80099537..80380880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268802.4 → XP_005268859.1  otogelin-like protein isoform X1

      Conserved Domains (6) summary
      smart00041
      Location:2285 → 2361
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00216
      Location:129 → 276
      VWD; von Willebrand factor (vWF) type D domain
      smart00832
      Location:1741 → 1810
      C8; This domain contains 8 conserved cysteine residues
      pfam01826
      Location:753 → 808
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:682 → 749
      C8; C8 domain
      cl23781
      Location:1280 → 1341
      Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

    2. XM_011538193.2 → XP_011536495.2  otogelin-like protein isoform X2

    3. XM_011538192.3 → XP_011536494.1  otogelin-like protein isoform X3

      Conserved Domains (6) summary
      smart00041
      Location:2234 → 2310
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00216
      Location:78 → 225
      VWD; von Willebrand factor (vWF) type D domain
      smart00832
      Location:1690 → 1759
      C8; This domain contains 8 conserved cysteine residues
      pfam01826
      Location:702 → 757
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:631 → 698
      C8; C8 domain
      cl23781
      Location:1229 → 1290
      Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      80078300..80359482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371765.1 → XP_054227740.1  otogelin-like protein isoform X1

    2. XM_054371766.1 → XP_054227741.1  otogelin-like protein isoform X2

    3. XM_054371767.1 → XP_054227742.1  otogelin-like protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3ZCN5.6 GenPept UniProtKB/Swiss-Prot:Q3ZCN5

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