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OTOA otoancorin [ Homo sapiens (human) ]

Gene ID: 146183, updated on 13-Feb-2019

Summary

Official Symbol
OTOAprovided by HGNC
Official Full Name
otoancorinprovided by HGNC
Primary source
HGNC:HGNC:16378
See related
Ensembl:ENSG00000155719 MIM:607038
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
CT108; DFNB22
Summary
The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Biased expression in testis (RPKM 1.9), spleen (RPKM 0.7) and 4 other tissues See more
Orthologs

Genomic context

See OTOA in Genome Data Viewer
Location:
16p12.2; 16p12.2
Exon count:
33
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (21664133..21762625)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21689835..21772050)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene methyltransferase like 9 Neighboring gene RNA, U6 small nuclear 1005, pseudogene Neighboring gene RNA, U6 small nuclear 196, pseudogene Neighboring gene immunoglobulin superfamily member 6 Neighboring gene uncharacterized LOC105371126 Neighboring gene RRN3 homolog, RNA polymerase I transcription factor pseudogene 1 Neighboring gene uncharacterized LOC112268174 Neighboring gene nuclear pore complex interacting protein family member B4

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?

Pathways from BioSystems

General gene information

Markers

Homology

Clone Names

  • FLJ32773, MGC39813, MGC157747

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
transmission of nerve impulse IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
otoancorin
Names
cancer/testis antigen 108

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_012973.2 RefSeqGene

    Range
    4836..101597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161683.1NP_001155155.1  otoancorin isoform 3

    See identical proteins and their annotated locations for NP_001155155.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing several coding exons, and contains an alternative exon at its 5' end compared to variant 1. This results in translation initiation from a different start codon, and a shorter isoform (3) with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK093062, AK125840, BC038458
    Consensus CDS
    CCDS53994.1
    UniProtKB/Swiss-Prot
    Q7RTW8
    UniProtKB/TrEMBL
    Q05BM7
    Related
    ENSP00000373608.4, ENST00000388956.8
    Conserved Domains (1) summary
    pfam06060
    Location:483836
    Mesothelin; Pre-pro-megakaryocyte potentiating factor precursor (Mesothelin)
  2. NM_144672.4NP_653273.3  otoancorin isoform 1 precursor

    See identical proteins and their annotated locations for NP_653273.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC092719, BC038458, BK000099
    Consensus CDS
    CCDS10600.2
    UniProtKB/TrEMBL
    Q05BM7
    Related
    ENSP00000373610.3, ENST00000388958.8
    Conserved Domains (1) summary
    pfam06060
    Location:562915
    Mesothelin; Pre-pro-megakaryocyte potentiating factor precursor (Mesothelin)
  3. NM_170664.2NP_733764.1  otoancorin isoform 2

    See identical proteins and their annotated locations for NP_733764.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing several coding exons, and contains an alternative exon at its 5' end compared to variant 1. This results in translation initiation from a different start codon, and a shorter isoform (2) with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK093062, BC038458
    Consensus CDS
    CCDS32403.1
    UniProtKB/Swiss-Prot
    Q7RTW8
    UniProtKB/TrEMBL
    Q05BM7
    Related
    ENSP00000373609.3, ENST00000388957.3
    Conserved Domains (1) summary
    pfam06060
    Location:238591
    Mesothelin; Pre-pro-megakaryocyte potentiating factor precursor (Mesothelin)

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_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    21664133..21762625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545747.3XP_011544049.1  otoancorin isoform X3

    UniProtKB/Swiss-Prot
    Q7RTW8
    Related
    ENSP00000496564.1, ENST00000646100.1
    Conserved Domains (1) summary
    pfam06060
    Location:562915
    Mesothelin; Pre-pro-megakaryocyte potentiating factor precursor (Mesothelin)
  2. XM_011545748.2XP_011544050.2  otoancorin isoform X1

  3. XM_017022951.1XP_016878440.1  otoancorin isoform X2

RNA

  1. XR_002957775.1 RNA Sequence

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_017852933.1 Reference GRCh38.p12 PATCHES

    Range
    1344051..1426323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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