Otoa
Gene Detail

Symbol Name ID

Otoa otoancorin MGI:2149209

Feature Type

protein coding gene

Genetic Map

Chromosome 7

65.07 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr7:121083322-121163097 bp, + strand From VEGA annotation of GRCm38   79776 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:71803  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Otoa

Human homologs

Human Homolog		OTOA, otoancorin
NCBI Gene ID		146183
neXtProt AC		NX_Q7RTW8
Human Synonyms		CT108, DFNB22
Human Chr (Location)		16p12.2; chr16:21689835-21772050 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human OTOA

Alleles and phenotypes

All alleles(4) : Targeted(4)
 

Mice homozygous for a knock-out allele exhibit hearing loss, detachment of the tectorial membrane from the spiral limbus, abnormal tectorial membrane morphology, absence of Hensen's stripe and increased cochlear nerve coumpond action potential threshold.

 
Human Diseases Modeled Using Mouse Otoa (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (8 annotations)

Process	sensory perception of sound
Component	anchored to membrane, apical plasma membrane, ...
Function	molecular_function

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (25)    Tissues (14)    Images (15)
Theiler Stages: 23, 24, 28

Assay Type	Results
Immunohistochemistry	8
RNA in situ	7
RT-PCR	10

cDNA source data(9)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(11) cDNA(9) Primer pair(1) Other(1)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000036710 (Evidence)
Ensembl Gene Model	ENSMUSG00000034990 (Evidence)
Entrez Gene	246190 (Evidence)
UniGene	221073
DFCI	TC1585443, TC1613964
DoTS	DT.101298368, DT.91304940, DT.97332647
Consensus CDS Project	CCDS40114.1
International Mouse Knockout Project Status	Otoa

Sequences

Length	Strain/Species
genomic	OTTMUSG00000036710	VEGA Gene Model | MGI Sequence Detail	79776	C57BL/6J
transcript	OTTMUST00000094051	VEGA | MGI Sequence Detail	3773	Not Applicable
polypeptide	OTTMUSP00000052245	VEGA | MGI Sequence Detail	1137	Not Applicable

All sequences(43) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(425 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR026663	Otoancorin
InterPro	IPR026664	Stereocilin related
Protein Ontology	PR:000012071	otoancorin

References

(Earliest) J:76334 Zwaenepoel I, et al., 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. Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6240-5
(Latest) J:192263 Lukashkin AN, et al., A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation. Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19351-6
All references(24)