OTOA otoancorin [Homo sapiens (human)] - Gene

Summary

Official Symbol: OTOAprovided by HGNC
Official Full Name: otoancorinprovided by HGNC
Primary source: HGNC:HGNC:16378
See related: Ensembl:ENSG00000155719 MIM:607038; AllianceGenome:HGNC:16378
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: mouse all
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Genomic context

Location:: 16p12.2; 16p12.2

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (21663968..21760729)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (22456214..22552969, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (21675289..21772050)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations].
Title: [Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations].
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Title: Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Polymorphisms in Neuronal Growth Regulator 1 and Otoancorin Alternate the Susceptibility to Lung Cancer in Chinese Nonsmoking Females.
Title: Polymorphisms in Neuronal Growth Regulator 1 and Otoancorin Alternate the Susceptibility to Lung Cancer in Chinese Nonsmoking Females.
the results of this reverse translational study confirmed GPI-anchorage of OTOA and showed that downstream sequences from the 589th amino acid are critical for GPI-anchorage.
Title: Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.
non-segregation of an OTOA p.Gln293Arg variant led to the discovery of a genomic microdeletion of OTOA on the opposite allele by copy number variation analysis. Overall, 13 pairs of recessive candidate variants were deemed causative in 13 patients.
Title: Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients.
A description of two novel OTOA mutations that were discovered in three consanguineous Pakistani families segregating autosomal recessive non-syndromic hearing impairment.
Title: Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
Large deletions in OTOA gene is associated with hearing loss.
Title: Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
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.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive nonsyndromic hearing loss 22 MedGen: C1846896 OMIM: 607039 GeneReviews: Genetic Hearing Loss Overview	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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D16S2697 (e-PCR)
- UniSTS:153267

G57755 (e-PCR)
- UniSTS:135111

D16S293 (e-PCR)
- UniSTS:146893

D16S2993 (e-PCR)
- UniSTS:29161

SHGC-144498 (e-PCR)
- UniSTS:172274

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in transmission of nerve impulse	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: otoancorin

Names: cancer/testis antigen 108

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

NG_012973.2 RefSeqGene

Range

4836..101597

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001161683.2 → NP_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

A1L3A8, A2VDI0, B3KWU3, E9PF51, Q7RTW8, Q8NA86, Q96M76

Related

ENSP00000373608.4, ENST00000388956.8
NM_144672.4 → NP_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/Swiss-Prot

A1L3A8, A2VDI0, B3KWU3, E9PF51, Q7RTW8, Q8NA86, Q96M76

Related

ENSP00000496564.2, ENST00000646100.2
NM_170664.3 → NP_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/TrEMBL

B4DZ38

Related

ENSP00000373609.3, ENST00000388957.3