OTOA (otoancorin)

2014-11-01  

Identity

HGNC
OTOA
LOCATION
16p12.2
LOCUSID
146183
ALIAS
CT108,DFNB22
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
371147312023[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations].0
371147312023[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations].0
334927142021Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.7
334927142021Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.7
325520512020Polymorphisms in Neuronal Growth Regulator 1 and Otoancorin Alternate the Susceptibility to Lung Cancer in Chinese Nonsmoking Females.0
325520512020Polymorphisms in Neuronal Growth Regulator 1 and Otoancorin Alternate the Susceptibility to Lung Cancer in Chinese Nonsmoking Females.0
307408252019Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.6
307408252019Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.6
291786032018Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients.9
291786032018Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients.9
231738982013Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.8
231738982013Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.8
198882952010Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.42
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
198882952010Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.42

Citation

Dessen P

OTOA (otoancorin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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