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 JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:8547669
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8547669
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8547667
RGD:8547671
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:8547667
RGD:8547669
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8547667
G Myo1c myosin 1C JBrowse link 10 63,803,311 63,819,614 RGD:8547667
G Myo3a myosin IIIA JBrowse link 17 88,952,635 89,167,538 RGD:8547667
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:8547669
RGD:8547672
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8547667
RGD:8547671
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:8547672
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8547667
RGD:8547671
G Pls1 plastin 1 JBrowse link 8 103,557,361 103,659,625 RGD:8547669
G Pls3 plastin 3 JBrowse link X 119,030,311 119,124,268 RGD:8547669
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 RGD:8547669
G Slc17a8 solute carrier family 17 member 8 JBrowse link 7 30,215,231 30,274,993 RGD:8547672
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8547667
RGD:8547671
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8547671
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547669
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8547667

Pathway Gene Annotations

Disease Annotations Associated with Genes in the auditory mechanotransduction pathway
Disease TermsGene Symbols
arteriovenous malformations of the brainAdgrv1
autosomal dominant nonsyndromic deafness 11Myo7a
autosomal dominant nonsyndromic deafness 22Myo6
autosomal dominant nonsyndromic deafness 25Slc17a8
autosomal dominant nonsyndromic deafness 73Ptprq
autosomal recessive nonsyndromic deafness 12Cdh23
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 7Myo6
autosomal recessive nonsyndromic deafness 84APtprq
autosomal recessive nonsyndromic deafness 9Otof
Baraitser-Winter syndromeActb
Baraitser-Winter Syndrome 1Actb
blindnessUsh2a
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18Pls3
carcinomaActb
Chemical and Drug Induced Liver InjuryActb , Pls3
Chromosome 17, Trisomy 17p11 2Myo15a
cochlear diseasePcdh15 , Slc17a8
colobomaActb
Combined Saposin DeficiencyCdh23
congenital nystagmusMyo7a
Craniofacial AbnormalitiesActb
Cutaneous Malignant Melanoma, Susceptibility To, 1Cdh23 , Otof , Ush2a
DeafnessEspn , Myo7a , Otof , Pcdh15 , Ush1g
Deafness, Autosomal RecessiveCdh23 , Otof
Deafness, Autosomal Recessive 18Ush1c
Deafness, Sensorineural, with Hypertrophic CardiomyopathyMyo6
Deafness, with Smith-Magenis SyndromeMyo15a
dysostosisActb
dystoniaActb
Esophageal NeoplasmsActb
Experimental Liver CirrhosisMyo1c
Febrile Convulsions, Familial, 1Adgrv1
Febrile Convulsions, Familial, 4Adgrv1
focal segmental glomerulosclerosis 6Myo1c
fundus dystrophyAdgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush2a , Whrn
genetic diseaseActb , Cdh23 , Espn , Myo15a , Myo7a , Ush2a
growth hormone secreting pituitary adenomaCdh23
Hearing LossCdh23 , Myo15a , Myo3a , Myo6 , Myo7a , Otof , Pcdh15 , Ptprq , Ush1c , Ush2a , Whrn
Hearing Loss, BilateralMyo3a
Hearing Loss, Noise-InducedCdh23
hepatocellular carcinomaActb
Hereditary Neoplastic SyndromesAdgrv1
HyperalgesiaSlc17a8
hypertensionMyo6
hypothyroidismOtof
HypoxiaActb
Joubert syndromeUsh2a
Juvenile-Onset DystoniaActb
Krabbe diseaseCdh23
Leber congenital amaurosisMyo7a , Ush2a
liver neoplasmPls1
Loeys-Dietz Syndrome 4Ush2a
lung cancerAdgrv1
Lung NeoplasmsActb
male infertilityMyo6
Mammary Neoplasms, AnimalActb
Mammary Neoplasms, ExperimentalActb
melanomaCdh23 , Myo7a , Otof , Ush2a
metachromatic leukodystrophyCdh23
Microphthalmia, Syndromic 1Myo1c
Multiple AbnormalitiesActb
Myocardial IschemiaActb
Neoplasm InvasivenessActb
Nervous System MalformationsActb
nonalcoholic fatty liver diseaseActb
nonsyndromic deafnessMyo15a , Myo3a , Myo6 , Otof , Pcdh15 , Ush1c , Ush2a
Nonsyndromic Sensorineural Hearing LossMyo6 , Myo7a , Slc17a8
osteoarthritisActb , Pls3
Ovarian NeoplasmsMyo6
Parkinsonian DisordersSlc17a8
PITUITARY ADENOMA 5, MULTIPLE TYPESCdh23
pneumoconiosisCdh23
PresbycusisCdh23
prostate cancerUsh2a
Prostatic NeoplasmsMyo6
retinal diseaseCdh23
retinitis pigmentosaCdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
retinitis pigmentosa 39Ush2a
retinitis pigmentosa-deafness syndromeAdgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a , Whrn
sciatic neuropathySlc17a8
Seizures, FebrileActb
sensorineural hearing lossActb , Espn , Myo15a , Myo6 , Myo7a , Ush1c , Ush2a , Whrn
Smith-Magenis syndromeMyo15a , Ush1g
substance-related disorderMyo6 , Pcdh15
temporal lobe epilepsyActb
transient cerebral ischemiaSlc17a8
trichinosisSlc17a8
Usher syndromeAdgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Usher syndrome type 1Adgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Usher Syndrome Type 1BMyo7a , Ush1c
Usher syndrome type 1CUsh1c
Usher syndrome type 1DCdh23 , Pcdh15
Usher syndrome type 1FPcdh15
Usher syndrome type 1GPcdh15 , Ush1g
Usher syndrome type 2Ush2a
Usher syndrome type 2AUsh2a
Usher syndrome type 2CAdgrv1
Usher syndrome type 2DWhrn
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:

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