OTOA (otoancorin)

2014-11-01  

Identity

HGNC
LOCATION
16p12.2
LOCUSID
ALIAS
CT108,DFNB22
FUSION GENES

Other Information

Locus ID:

NCBI: 146183
MIM: 607038
HGNC: 16378
Ensembl: ENSG00000155719

Variants:

dbSNP: 146183
ClinVar: 146183
TCGA: ENSG00000155719
COSMIC: OTOA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155719ENST00000286149Q7RTW8
ENSG00000155719ENST00000388956Q7RTW8
ENSG00000155719ENST00000388957Q7RTW8
ENSG00000155719ENST00000388958Q7RTW8
ENSG00000155719ENST00000646100Q7RTW8
ENSG00000155719ENST00000647277A0A2R8YG28

Expression (GTEx)

0
1
2
3
4
5
6
7

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198882952010Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.33
231738982013Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.5
291786032018Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients.5
307408252019Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.2

Citation

Dessen P

OTOA (otoancorin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71572/otoa