Otoa otoancorin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Otoaprovided by MGI
Official Full Name: otoancorinprovided by MGI
Primary source: MGI:MGI:2149209
See related: Ensembl:ENSMUSG00000034990 AllianceGenome:MGI:2149209
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Acts upstream of or within cell-matrix adhesion; sensory perception of sound; and transmission of nerve impulse. Located in apical plasma membrane. Is expressed in inner ear; male reproductive gland or organ; small intestine; and trachea. Used to study autosomal recessive nonsyndromic deafness 22. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 22. Orthologous to human OTOA (otoancorin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 7 F2; 7 65.07 cM

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (120682647..120762316)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (121083424..121163093)

Chromosome 7 - NC_000073.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Otoancorin is defective in autosomal recessive deafness DFNB22
Title: Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (1) 1 citation

General gene information

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Markers

Otoa (e-PCR), detects polymorphism
- UniSTS:515956

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transmission of nerve impulse	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: otoancorin

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.

mRNA and Protein(s)

NM_139310.2 → NP_647471.1 otoancorin precursor

See identical proteins and their annotated locations for NP_647471.1

Status: VALIDATED

Source sequence(s)

AC140782

Consensus CDS

CCDS40114.1

UniProtKB/Swiss-Prot

Q8K561

UniProtKB/TrEMBL

Q3TZF3

Related

ENSMUSP00000044177.8, ENSMUST00000047025.15

Conserved Domains (1) summary

pfam06060
Location:562 → 975

Mesothelin; Pre-pro-megakaryocyte potentiating factor precursor (Mesothelin)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

120682647..120762316

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017322267.3 → XP_017177756.1 otoancorin isoform X1

UniProtKB/Swiss-Prot

Q8K561

UniProtKB/TrEMBL

Q3TZF3

Conserved Domains (1) summary

pfam06060
Location:562 → 975

Mesothelin; Pre-pro-megakaryocyte potentiating factor precursor (Mesothelin)