OTOA - otoancorin Gene

Also Known as CT108; DFNB22

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 146183

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
Others OTOA NCBI