1. Gene
  2. OTOA - otoancorin Gene

OTOA - otoancorin Gene

Homo sapiens

Also known as CT108; DFNB22

Gene ID: 146183 | Gene type: protein coding

About OTOA

Cytogenetic location: 16p12.2 Genomic coordinates (GRCh38): 16:21,663,968-21,760,729 (from NCBI)

This gene has 9 transcripts (splice variants), 134 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 1.9), spleen (RPKM 0.7) and 4 other tissues.

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]

OTOA Products(3)

mRNA Protein Name
NM_001161683.2 NP_001155155.1 otoancorin isoform 3
NM_144672.4 NP_653273.3 otoancorin isoform 1 precursor
NM_170664.3 NP_733764.1 otoancorin isoform 2
Protein Preferred Names Protein Names

otoancorin

cancer/testis antigen 108

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 22

DFNB22

Autosomal Recessive Nonsyndromic Deafness 22

Autosomal Recessive Deafness 22

Deafness, Autosomal Recessive, 22

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 22

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 22

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Rare Genetic Deafness

Rare Genetic Hearing Loss

Deafness, Autosomal Recessive 7

DFNB7

Dfnb11

Deafness, Autosomal Recessive 11

Autosomal Recessive Nonsyndromic Deafness 7

Autosomal Recessive Deafness 7

Deafness, Autosomal Recessive, 7

Deafness Neurosensory Autosomal Recessive 11

Deafness Neurosensory Autosomal Recessive 7

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7

Deafness, Autosomal Recessive, Type 7

Deafness, Autosomal Dominant 4a

Deafness, Autosomal Dominant 4

DFNA4A

Dfna4

Autosomal Dominant Nonsyndromic Deafness 4a

Autosomal Dominant Deafness 4a

Deafness, Autosomal Dominant, 4a

Deafness Autosomal Dominant 4

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4

Deafness, Autosomal Dominant, Type 4a

Complement Component 2 Deficiency

C2D

C2 Deficiency

Complement 2 Deficiency

Complement Component-2

Deafness, Autosomal Recessive 16

DFNB16

Autosomal Recessive Nonsyndromic Deafness 16

Autosomal Recessive Deafness 16

Deafness, Autosomal Recessive, 16

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16

Deafness, Autosomal Recessive, Type 16

Deafness, Autosomal Recessive 83

DFNB83

Autosomal Recessive Nonsyndromic Deafness 83

Autosomal Recessive Deafness 83

Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb

Chromosome 16p12.2-P11.2 Deletion Syndrome

16p11.2p12.2 Microdeletion Syndrome

16p11.2-P12.2 Microdeletion Syndrome

Del(16)(P11.2p12.2)

Monosomy 16p11.2p12.2

Chromosome Deletion Syndrome 16p12.2-P11.2

Deafness, Autosomal Recessive 85

DFNB85

Autosomal Recessive Nonsyndromic Deafness 85

Autosomal Recessive Deafness 85

Deafness, Autosomal Dominant 40

DFNA40

Autosomal Dominant Nonsyndromic Deafness 40

Autosomal Dominant Deafness 40

Deafness, Autosomal Dominant, 40

Deafness, Autosomal Dominant, Type 40

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct

DFNB4

Neurosensory Nonsyndromic Recessive Deafness 4

Enlarged Vestibular Aqueduct Syndrome

Nsrd4

Autosomal Recessive Nonsyndromic Deafness 4

Dilated Vestibular Aqueduct

Dva

Enlarged Vestibular Aqueduct, Digenic

Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct

Large Vestibular Aqueduct Syndrome

Deafness, Autosomal Recessive, 4

Deafness Neurosensory Autosomal Recessive 4

Eva

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4

Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Deafness, Autosomal Dominant 20

DFNA20

Dfna26

Deafness, Autosomal Dominant 20/26

Autosomal Dominant Nonsyndromic Deafness 20

Autosomal Dominant Deafness 20

Deafness, Autosomal Dominant, 20

Deafness Autosomal Dominant 26

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 20

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 20

Deafness, Autosomal Dominant, Type 20/26

Deafness, Autosomal Recessive 89

DFNB89

Autosomal Recessive Nonsyndromic Deafness 89

Autosomal Recessive Deafness 89

Deafness, Autosomal Recessive, 89

Deafness, Autosomal Recessive, Type 89

Deafness, Autosomal Recessive 35

DFNB35

Autosomal Recessive Nonsyndromic Deafness 35

Autosomal Recessive Deafness 35

Deafness, Autosomal Recessive, 35

Deafness, Autosomal Recessive, Type 35

Deafness, Autosomal Recessive 91

DFNB91

Autosomal Recessive Nonsyndromic Deafness 91

Autosomal Recessive Deafness 91

Deafness, Autosomal Recessive, 91

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91

Deafness, Autosomal Recessive, Type 91

Deafness, Autosomal Recessive 21

DFNB21

Autosomal Recessive Nonsyndromic Deafness 21

Autosomal Recessive Deafness 21

Deafness, Autosomal Recessive, 21

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21

Deafness, Autosomal Recessive, Type 21

Deafness, Autosomal Recessive 49

DFNB49

Autosomal Recessive Nonsyndromic Deafness 49

Autosomal Recessive Deafness 49

Deafness, Autosomal Recessive, 49

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49

Deafness, Autosomal Recessive, Type 49

Deafness, Autosomal Recessive 61

DFNB61

Autosomal Recessive Nonsyndromic Deafness 61

Autosomal Recessive Deafness 61

Deafness, Autosomal Recessive, 61

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61

Deafness, Autosomal Recessive, Type 61

Usher Syndrome, Type Iid

Usher Syndrome Type 2d

USH2D

Usher Syndrome, Type 2d

Usher Syndrome Type Iid

Usher Syndrome 2d

Usher Syndrome, Type Ii

Superior Semicircular Canal Dehiscence

Superior Canal Dehiscence Syndrome

Superior Semicircular Canal Dehiscence Syndrome

Canal Dehiscence Syndrome

Superior Canal Dehiscence

Superior Canal Syndrome

Third Mobile Window Syndrome

Scds

Anemia, Sickle Cell

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Deafness, Autosomal Recessive 63

DFNB63

Autosomal Recessive Nonsyndromic Deafness 63

Autosomal Recessive Deafness 63

Deafness, Autosomal Recessive, 63

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63

Deafness, Autosomal Recessive, Type 63

Usher Syndrome, Type Iia

Usher Syndrome Type 2a

USH2A

Usher Syndrome, Type 2a

Usher Syndrome Type Iia

Retinal Disease In Usher Syndrome Type Iia, Modifier Of

Us2

Ush2

Usher Syndrome 2a

Usher'S Syndrome Type 2a

Ushiia

Deafness, Autosomal Recessive 1a

DFNB1A

Deafness, Digenic, Gjb2/Gjb3

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/Gjb6

Deafness, Digenic Gjb2/Gjb6

Autosomal Recessive Deafness 1a

Deafness, Autosomal Recessive, 1a

Deafness Digenic Gjb2/Gjb3

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1a

Deafness, Autosomal Recessive 12

DFNB12

Deafness, Autosomal Recessive 12, Modifier Of

Autosomal Recessive Nonsyndromic Deafness 12

Autosomal Recessive Deafness 12

Deafness, Autosomal Recessive, 12

Congenital Neurosensory Deafness Autosomal Recessive 12

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12

Deafness, Autosomal Recessive, Type 12

Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta OTOA VGNC VGNC:75624
Bos taurus OTOA VGNC VGNC:32483
Felis catus OTOA VGNC VGNC:63993
Rattus norvegicus OTOA RGD RGD:1562741
Mus musculus OTOA MGD MGI:2149209
Canis familiaris OTOA VGNC VGNC:44175