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OTOG otogelin [ Homo sapiens (human) ]

Gene ID: 340990, updated on 12-Mar-2019

Summary

Official Symbol
OTOGprovided by HGNC
Official Full Name
otogelinprovided by HGNC
Primary source
HGNC:HGNC:8516
See related
Ensembl:ENSG00000188162 MIM:604487
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
OTGN; MLEMP; DFNB18B
Summary
The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See OTOG in Genome Data Viewer
Location:
11p15.1
Exon count:
56
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (17547373..17645944)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17568920..17667491)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily C member 8 Neighboring gene succinate dehydrogenase complex subunit C pseudogene 4 Neighboring gene USH1 protein network component harmonin Neighboring gene uncharacterized LOC102723330 Neighboring gene myogenic differentiation 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46346

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-L-arabinofuranosidase activity IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-arabinose metabolic process IEA
Inferred from Electronic Annotation
more info
 
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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_033191.2 RefSeqGene

    Range
    5001..103572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001277269.1NP_001264198.1  otogelin isoform a precursor

    See identical proteins and their annotated locations for NP_001264198.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC124799, AK128214, DB081210, DV080216, DV080241, DV080242, DV080384, DV080398, DV080434, EG328175, EG328176
    Consensus CDS
    CCDS76390.1
    UniProtKB/Swiss-Prot
    Q6ZRI0
    Related
    ENSP00000382323.2, ENST00000399391.6
    Conserved Domains (12) summary
    smart00041
    Location:28422924
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00215
    Location:476511
    VWC_out; von Willebrand factor (vWF) type C domain
    smart00216
    Location:503668
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:11661240
    C8; This domain contains 8 conserved cysteine residues
    pfam00094
    Location:152302
    VWD; von Willebrand factor type D domain
    pfam01826
    Location:780844
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam06752
    Location:16391720
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam08742
    Location:348412
    C8; C8 domain
    pfam15767
    Location:14731987
    DUF4696; Domain of unknown function (DUF4696)
    cl21454
    Location:26762736
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    cl23781
    Location:13051370
    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 ...
    cl23893
    Location:19532040
    HrpB2; Bacterial type III secretion protein (HrpB2)
  2. NM_001292063.1NP_001278992.1  otogelin isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two alternate splice sites and includes an additional exon, which together result in an alternate in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AC124799, DB081210, DB096404, DB341780, DV080216, DV080242, DV080384, DV080398, DV080434, EG328175, EG328176
    Consensus CDS
    CCDS59225.2
    UniProtKB/TrEMBL
    H9KVB3
    Related
    ENSP00000382329.2, ENST00000399397.5
    Conserved Domains (12) summary
    smart00041
    Location:28302912
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00215
    Location:464499
    VWC_out; von Willebrand factor (vWF) type C domain
    smart00216
    Location:491656
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:11541228
    C8; This domain contains 8 conserved cysteine residues
    pfam00094
    Location:140290
    VWD; von Willebrand factor type D domain
    pfam01826
    Location:768832
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam06752
    Location:16271708
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam08742
    Location:336400
    C8; C8 domain
    pfam15767
    Location:14611975
    DUF4696; Domain of unknown function (DUF4696)
    cl21454
    Location:26642724
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    cl23781
    Location:12931358
    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 ...
    cl23893
    Location:19412028
    HrpB2; Bacterial type III secretion protein (HrpB2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    17547373..17645944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198497.1: Suppressed sequence

    Description
    NM_198497.1: This RefSeq was permanently suppressed because the transcript is partial and there is currently insufficient support for the full-length nature of this variant.
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