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Pathways

AUDITORY MECHANOTRANSDUCTION PATHWAY (PW:0001503)

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Description

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
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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 chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242
JBrowse link
G Actg1 actin, gamma 1 ISO RGD PMID:20624897 RGD:8547669 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO RGD PMID:20624897 RGD:8547669 NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372
JBrowse link
G Cdh23 cadherin-related 23 ISO RGD PMID:19804752 PMID:22177415 RGD:8547667, RGD:8547671 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332
JBrowse link
G Espn espin ISO RGD PMID:19804752 PMID:20624897 RGD:8547667, RGD:8547669 NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984
JBrowse link
G Myo15a myosin XVA ISO RGD PMID:19804752 RGD:8547667 NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,776,907...45,835,473
JBrowse link
G Myo1c myosin 1C ISO RGD PMID:19804752 RGD:8547667 NCBI chr10:60,996,642...61,019,022
Ensembl chr10:60,996,638...61,019,022
JBrowse link
G Myo3a myosin IIIA ISO RGD PMID:19804752 RGD:8547667 NCBI chr17:89,451,567...89,667,654
Ensembl chr17:89,451,567...89,667,654
JBrowse link
G Myo6 myosin VI ISO RGD PMID:20624897 PMID:22715884 RGD:8547669, RGD:8547672 NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215
JBrowse link
G Myo7a myosin VIIA ISO RGD PMID:19804752 PMID:22177415 RGD:8547667, RGD:8547671 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365
JBrowse link
G Otof otoferlin ISO RGD PMID:22715884 RGD:8547672 NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476
JBrowse link
G Pcdh15 protocadherin related 15 ISO RGD PMID:19804752 PMID:22177415 RGD:8547667, RGD:8547671 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958
JBrowse link
G Pls1 plastin 1 ISO RGD PMID:20624897 RGD:8547669 NCBI chr 8:105,196,312...105,306,252
Ensembl chr 8:105,197,455...105,292,447
JBrowse link
G Pls3 plastin 3 ISO RGD PMID:20624897 RGD:8547669 NCBI chr  X:116,401,247...116,495,898
Ensembl chr  X:116,401,293...116,495,893
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO RGD PMID:20624897 RGD:8547669 NCBI chr 7:44,720,916...44,903,291
Ensembl chr 7:44,720,916...44,903,291
JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO RGD PMID:22715884 RGD:8547672 NCBI chr 7:25,881,557...25,936,837
Ensembl chr 7:25,881,557...25,935,410
JBrowse link
G Ush1c USH1 protein network component harmonin ISO RGD PMID:19804752 PMID:22177415 RGD:8547667, RGD:8547671 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082
JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:22177415 RGD:8547671 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564
JBrowse link
G Ush2a usherin ISO RGD PMID:20624897 RGD:8547669 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217
JBrowse link
G Whrn whirlin ISO RGD PMID:19804752 RGD:8547667 NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381
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 73Ptprq
autosomal dominant nonsyndromic deafness 76Pls1
autosomal dominant nonsyndromic deafness 80Myo7a
autosomal dominant nonsyndromic deafness 90Myo3a
autosomal hemophilia APls3
autosomal recessive nonsyndromic deafnessAdgrv1 , Cdh23 , Espn , Myo15a , Myo3a , Myo6 , Myo7a , Otof , Pcdh15 , Ptprq , Ush1c , Ush1g , Ush2a , Whrn
autosomal recessive nonsyndromic deafness 12Cdh23
Autosomal Recessive Nonsyndromic Deafness 18Ush1c , Ush1g
autosomal recessive nonsyndromic deafness 18AUsh1c , Ush1g
autosomal recessive nonsyndromic deafness 2Myo7a
autosomal recessive nonsyndromic deafness 23Pcdh15
autosomal recessive nonsyndromic deafness 3Myo15a , Otof
autosomal recessive nonsyndromic deafness 30Myo3a
autosomal recessive nonsyndromic deafness 31Whrn
autosomal recessive nonsyndromic deafness 36Espn
autosomal recessive nonsyndromic deafness 37Myo6
autosomal recessive nonsyndromic deafness 7Myo7a
autosomal recessive nonsyndromic deafness 84APtprq
autosomal recessive nonsyndromic deafness 9Myo15a , 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
CAKUTActg1
carcinomaActb , Actg1
Chemical and Drug Induced Liver InjuryActb , Pls3
chromosome 1p36 deletion syndromeEspn
cochlear diseasePcdh15 , Slc17a8
Cohen syndromeMyo7a
colobomaActb , Actg1
combined saposin deficiencyCdh23
common variable immunodeficiency 2Myo15a
cone-rod dystrophyUsh2a
cone-rod dystrophy 3Ush2a
congenital diaphragmatic herniaPls3
congenital nystagmusMyo7a
CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHYActb
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
DwarfismActb
dysostosisActb
dystoniaActb
Esophageal NeoplasmsActb
essential tremorMyo6
Experimental Liver CirrhosisMyo1c
Experimental Mammary NeoplasmsActb , Actg1
factor VIII deficiencyPls3
familial adenomatous polyposis 1Adgrv1
familial febrile seizures 1Adgrv1
familial febrile seizures 4Adgrv1
Febrile SeizuresActb
fundus dystrophyAdgrv1 , Cdh23 , Espn , Myo7a , Pcdh15 , Ush1c , Ush1g , 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 , Espn , 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
HyperalgesiaSlc17a8
hypertensionMyo6
hypothyroidismOtof
HypoxiaActb
Idiopathic Generalized EpilepsyAdgrv1
intellectual disabilityActb , Actg1 , Myo7a , Ush1c
Joubert syndromeMyo15a , Ush2a
junctional epidermolysis bullosa with pyloric atresiaMyo6
Juvenile-Onset DystoniaActb
Krabbe diseaseCdh23
Leber congenital amaurosisMyo7a , Ush2a
lissencephalyActg1
Liver NeoplasmsPls1
Loeys-Dietz syndrome 4Ush2a
Lung NeoplasmsActb
macular degenerationUsh2a
male infertilityMyo6
melanomaMyo7a
Meniere's diseaseAdgrv1 , Cdh23 , Myo1c , Myo6 , Myo7a , Pcdh15 , Ush1c
metabolic dysfunction-associated steatotic liver diseaseActb
metachromatic leukodystrophyCdh23
Metachromatic Leukodystrophy due to Saposin B DeficiencyCdh23
microcephalyActg1
Miller-Dieker lissencephaly syndromeMyo1c
mitochondrial trifunctional protein deficiencyOtof
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
optic atrophyAdgrv1 , Cdh23 , Espn , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a , Whrn
osteoarthritisActb , Pls3
osteogenesis imperfectaPls3
osteoporosisActg1 , Pls3
ovarian cancerMyo6
parathyroid carcinomaUsh2a
ParkinsonismSlc17a8
Pendred syndromeMyo7a , Otof
pituitary adenoma 5Cdh23
pneumoconiosisCdh23
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
schizophreniaPcdh15
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
thrombocytopeniaActb
Thrombocytopenia 8Actb
transient cerebral ischemiaSlc17a8
trichinosisSlc17a8
Ullrich congenital muscular dystrophy 2Myo6
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 2BAdgrv1
Usher syndrome type 2CAdgrv1
Usher syndrome type 2DWhrn
Usher syndrome type 3AUsh2a
Usher Syndrome, Type ID/FCdh23 , Pcdh15
vestibular diseaseEspn , Myo7a
Vision DisordersUsh2a
Waardenburg syndromeMyo6
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:

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paths to the root

Import into Pathway Studio: