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View Ontology Report


The auditory system has exquisitely intricate mechanisms that convert mechanical stimuli - mechanotransduction, intro electrical signals that are processed by the brain and account for the perception of sound, gravity and movement. The inner ear - a fluid-filled organ, contains the shell-shaped cochlea and the vestibule responsible for sound and for gravitation and movement mechanotransduction, respectively. Within the cochlea, the organ of Corti (OC) contains the hair cells - specialized sens

Pathway Diagram:

Elsevier Inc. PIP2 auditory perception processing Slc17a8 ribbon synapse amplification outer hair cell (OHC) - three rows K+ Ca2+ glutamate superior olivary complex Otof various, non-sensory, supporting cell outer hair cell (OHC) - three rows --+> SGN type II Myo7a ---- Ush1c Espn ---- Myo3a Myo1c MET channel Espn Myo3a Pcdh15 ---- Ush1c Cdh23 ---- Pcdh15 Cdh23 ---- Ush1c Dfnb31 Myo15a Cdh23 Pcdh15 Gpr98 Myo1c ---- PIP2 Pls1 Actb Pls3 Ush2a central nervous system SGN type I ribbon synapse --+> SGN type I SGN type II superior olivary complex ---| outer hair cell (OHC) - three rows Myo6 Myo6 ---- Otof Ptprq Ush1c Ush1c ---- Ush1g Ush1g Myo7a Myo7a ---- Ush1g Cdh23 ---- Myo1c Actg1

Genes in Pathway:

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auditory mechanotransduction pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO RGD PMID:20624897 RGD:8547669 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Actg1 actin, gamma 1 ISO RGD PMID:20624897 RGD:8547669 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO RGD PMID:20624897 RGD:8547669 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
JBrowse link
G Cdh23 cadherin-related 23 ISO RGD PMID:19804752 PMID:22177415 RGD:8547667, RGD:8547671 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Espn espin ISO RGD PMID:19804752 PMID:20624897 RGD:8547667, RGD:8547669 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
JBrowse link
G Myo15a myosin XVA ISO RGD PMID:19804752 RGD:8547667 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
JBrowse link
G Myo1c myosin 1C ISO RGD PMID:19804752 RGD:8547667 NCBI chr10:60,498,372...60,520,752
Ensembl chr10:60,498,280...60,520,752
JBrowse link
G Myo3a myosin IIIA ISO RGD PMID:19804752 RGD:8547667 NCBI chr17:84,543,465...84,759,562
Ensembl chr17:84,543,552...84,759,042
JBrowse link
G Myo6 myosin VI ISO RGD PMID:20624897 PMID:22715884 RGD:8547669, RGD:8547672 NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
JBrowse link
G Myo7a myosin VIIA ISO RGD PMID:19804752 PMID:22177415 RGD:8547667, RGD:8547671 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Otof otoferlin ISO RGD PMID:22715884 RGD:8547672 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
JBrowse link
G Pcdh15 protocadherin related 15 ISO RGD PMID:19804752 PMID:22177415 RGD:8547667, RGD:8547671 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
JBrowse link
G Pls1 plastin 1 ISO RGD PMID:20624897 RGD:8547669 NCBI chr 8:96,316,703...96,426,592
Ensembl chr 8:96,317,849...96,385,195
JBrowse link
G Pls3 plastin 3 ISO RGD PMID:20624897 RGD:8547669 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO RGD PMID:20624897 RGD:8547669 NCBI chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917
JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO RGD PMID:22715884 RGD:8547672 NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
JBrowse link
G Ush1c USH1 protein network component harmonin ISO RGD PMID:19804752 PMID:22177415 RGD:8547667, RGD:8547671 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:22177415 RGD:8547671 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590
JBrowse link
G Ush2a usherin ISO RGD PMID:20624897 RGD:8547669 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Whrn whirlin ISO RGD PMID:19804752 RGD:8547667 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
JBrowse link

Pathway Gene Annotations

Disease Annotations Associated with Genes in the auditory mechanotransduction pathway
Disease TermsGene Symbols
Acute Coronary SyndromeActg1
Aland Island eye diseaseWhrn
Alport syndromeMyo15a
Aminoacylase 1 DeficiencyActb
Animal Mammary NeoplasmsActb , Actg1
Anterior Diaphragmatic HerniaPls3
arteriovenous malformations of the brainAdgrv1
Arthrogryposis and Ectodermal DysplasiaOtof
atrial fibrillationMyo1c
atypical Gaucher's disease due to saposin C deficiencyCdh23
Atypical Krabbe Disease due to Saposin A DeficiencyCdh23
Auditory NeuropathyMyo7a , Otof
autism spectrum disorderUsh2a
autistic disorderMyo15a , Pcdh15 , Pls3
autosomal dominant centronuclear myopathyPtprq
autosomal dominant nonsyndromic deafnessMyo6 , Pls1
autosomal dominant nonsyndromic deafness 11Myo7a
autosomal dominant nonsyndromic deafness 20Actg1
autosomal dominant nonsyndromic deafness 22Myo6
autosomal dominant nonsyndromic deafness 25Slc17a8
autosomal dominant nonsyndromic deafness 30Myo3a
autosomal dominant nonsyndromic deafness 36Ush2a
autosomal dominant nonsyndromic deafness 73Ptprq
autosomal dominant nonsyndromic deafness 76Pls1
Autosomal Dominant Nonsyndromic Deafness 80Myo7a
Autosomal Dominant Nonsyndromic Deafness 90Myo3a
autosomal recessive nonsyndromic deafnessAdgrv1 , Cdh23 , Espn , Myo15a , Myo7a , Otof , Pcdh15 , Ptprq , Ush1c , Ush1g , Ush2a , Whrn
autosomal recessive nonsyndromic deafness 12Cdh23
Autosomal Recessive Nonsyndromic Deafness 18Ush1c
autosomal recessive nonsyndromic deafness 18AUsh1c
autosomal recessive nonsyndromic deafness 2Myo7a
autosomal recessive nonsyndromic deafness 23Pcdh15
autosomal recessive nonsyndromic deafness 3Myo15a
autosomal recessive nonsyndromic deafness 30Myo3a
autosomal recessive nonsyndromic deafness 31Whrn
autosomal recessive nonsyndromic deafness 36Espn
autosomal recessive nonsyndromic deafness 37Myo6
autosomal recessive nonsyndromic deafness 84APtprq
autosomal recessive nonsyndromic deafness 9Cdh23 , Otof , Slc17a8
Baraitser-Winter syndromeActb , Actg1
Baraitser-Winter syndrome 1Actb , Actg1
Baraitser-Winter syndrome 2Actg1
Bardet-Biedl syndromeUsh2a
Becker Nevus SyndromeActb
beta-mannosidosisAdgrv1 , Cdh23
Bilateral Hearing LossMyo3a
Birt-Hogg-Dube syndromeMyo15a
blindnessMyo15a , Ush2a
carcinomaActb , Actg1
Chemical and Drug Induced Liver InjuryActb , Pls3
chromosome 1p36 deletion syndromeEspn
cleft palateMyo15a
cochlear diseasePcdh15 , Slc17a8
Cohen syndromeMyo7a
colobomaActb , Actg1
combined saposin deficiencyCdh23
common variable immunodeficiency 2Myo15a
cone-rod dystrophyUsh2a
cone-rod dystrophy 3Ush2a
congenital diaphragmatic herniaMyo15a , Pls3
congenital nystagmusMyo7a
congenital stationary night blindnessUsh2a
congenital structural myopathyPtprq
COVID-19Myo6 , Myo7a , Otof
Craniofacial AbnormalitiesActb , Actg1
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural DeafnessMyo7a
DeafnessCdh23 , Espn , Myo7a , Otof , Pcdh15 , Ptprq , Ush1g , Ush2a , Whrn
Deafness, with Smith-Magenis SyndromeMyo15a
Developmental DisabilitiesMyo15a
DwarfismActb , Ush2a
epilepsyAdgrv1 , Myo15a
Esophageal NeoplasmsActb
essential tremorMyo6
Experimental Liver CirrhosisMyo1c
Experimental Mammary NeoplasmsActb , Actg1
factor VIII deficiencyCdh23
familial adenomatous polyposis 1Adgrv1
familial febrile seizures 1Adgrv1
familial febrile seizures 4Adgrv1
Febrile SeizuresActb
fundus dystrophyAdgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush2a , Whrn
gastrointestinal stromal tumorUsh2a
genetic diseaseActb , Actg1 , Adgrv1 , Cdh23 , Espn , Myo15a , Myo3a , Myo6 , Myo7a , Otof , Pcdh15 , Pls1 , Pls3 , Ptprq , Slc17a8 , Ush1c , Ush1g , Ush2a , Whrn
hand, foot and mouth diseaseActb
Hearing LossActg1 , Adgrv1 , Cdh23 , Myo15a , Myo3a , Myo6 , Myo7a , Otof , Pcdh15 , Pls1 , Ptprq , Ush1c , Ush1g , Ush2a , Whrn
Hearing Loss, Noise-InducedCdh23
hepatocellular carcinomaActb
hereditary breast ovarian cancer syndromeMyo7a
Hereditary Neoplastic SyndromesAdgrv1 , Cdh23
Hirschsprung's diseasePcdh15
idiopathic generalized epilepsyAdgrv1
intellectual disabilityActb , Actg1 , Myo7a , Ush1c
Joubert syndrome 1Myo15a , Ush2a
Juvenile-Onset DystoniaActb
Krabbe diseaseCdh23
Leber congenital amaurosisMyo7a , Ush2a
Liver NeoplasmsPls1
Loeys-Dietz syndrome 4Ush2a
Lung NeoplasmsActb
macular degenerationUsh2a
male infertilityMyo6
Meniere's diseaseAdgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c
metabolic dysfunction-associated steatotic liver diseaseActb
metachromatic leukodystrophyCdh23
Metachromatic Leukodystrophy due to Saposin B DeficiencyCdh23
Miller-Dieker lissencephaly syndromeMyo1c
Myocardial IschemiaActb
Neoplasm InvasivenessActb
Neoplastic Cell TransformationActg1
Nervous System MalformationsActb , Actg1
Neurodevelopmental DisordersActb , Adgrv1 , Cdh23 , Espn
nonsyndromic deafnessActg1 , Cdh23 , Myo15a , Myo3a , Myo6 , Myo7a , Otof , Pcdh15 , Ush2a
Nonsyndromic Sensorineural Hearing LossCdh23 , Myo3a , Myo6 , Myo7a , Pcdh15 , Slc17a8 , Ush1g
osteoarthritisActb , Pls3
osteogenesis imperfectaPls3
osteoporosisActg1 , Pls3
ovarian cancerMyo6
parathyroid carcinomaUsh2a
Pendred syndromeMyo7a , Otof
pituitary adenoma 5Cdh23
Postmenopausal OsteoporosisPls3
Potocki-Lupski syndromeMyo15a
PresbycusisActg1 , Cdh23
progressive myoclonus epilepsy 7Ush1c
prostate cancerMyo6 , Ush2a
Pulmonary Surfactant Metabolism Dysfunction 2Ush2a
retinal degenerationUsh2a
retinal diseaseCdh23
retinitis pigmentosaAdgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
retinitis pigmentosa 39Ush2a
retinitis pigmentosa-deafness syndromeCdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a , Whrn
sciatic neuropathySlc17a8
Sensorineural Deafness with Hypertrophic CardiomyopathyMyo6
sensorineural hearing lossActb , Cdh23 , Espn , Myo15a , Myo3a , Myo6 , Myo7a , Otof , Pls1 , Ptprq , Ush1c , Ush2a , Whrn
smooth muscle hamartomaActb
Stickler syndromeCdh23
substance-related disorderMyo6 , Pcdh15
syndromic microphthalmia 5Myo1c
syndromic X-linked intellectual disability Lubs typePls3
Tatton-Brown-Rahman syndromeOtof
temporal lobe epilepsyActb
Thrombocytopenia 8Actb
transient cerebral ischemiaSlc17a8
Usher syndromeAdgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a , Whrn
Usher syndrome type 1Adgrv1 , Cdh23 , Espn , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Usher Syndrome Type 1BCdh23 , Myo7a , Pcdh15 , Ush1c
Usher syndrome type 1CUsh1c
Usher syndrome type 1DCdh23 , Pcdh15
Usher syndrome type 1FPcdh15
Usher syndrome type 1GPcdh15 , Ush1g
Usher Syndrome Type 1MEspn
Usher syndrome type 2Adgrv1 , Cdh23 , Myo7a , Ush1c , Ush2a
Usher syndrome type 2AAdgrv1 , Cdh23 , Ush2a
Usher syndrome type 2CAdgrv1
Usher syndrome type 2DWhrn
Usher syndrome type 3AUsh2a
Usher Syndrome, Type 2BAdgrv1
Usher Syndrome, Type ID/FCdh23 , Pcdh15
vestibular diseaseEspn , Myo7a
Pathway Annotations Associated with Genes in the auditory mechanotransduction pathway
Phenotype Annotations Associated with Genes in the auditory mechanotransduction pathway

References Associated with the auditory mechanotransduction pathway:

Ontology Path Diagram:

paths to the root
paths to the root

Import into Pathway Studio: