ENSMUSG00000060332


Mus musculus

Features
Gene ID: ENSMUSG00000060332
  
Biological name :Tmc2
  
Synonyms : Q8R4P4 / Tmc2 / Transmembrane channel-like protein 2
  
Possible biological names infered from orthology : Q8TDI7 / transmembrane channel like 2
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: F1
Gene start: 130195194
Gene end: 130264445
  
Corresponding Affymetrix probe sets: 10476072 (MoGene1.0st)   1421707_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000077139
Ensembl peptide - ENSMUSP00000125843
NCBI entrez gene - 192140     See in Manteia.
MGI - MGI:2151017
RefSeq - XM_017316469
RefSeq - NM_138655
RefSeq Peptide - NP_619596
swissprot - Q8R4P4
Ensembl - ENSMUSG00000060332
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tmc2aENSDARG00000033104Danio rerio
 tmc2bENSDARG00000030311Danio rerio
 TMC2ENSGALG00000042706Gallus gallus
 TMC2ENSG00000149488Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tmc1 / Q8R4P5 / Transmembrane channel-like protein 1 / Q8TDI8* / transmembrane channel like 1*ENSMUSG0000002474948
Tmc3 / transmembrane channel like 3 / Q7Z5M5*ENSMUSG0000003854036
Tmc4 / transmembrane channel like 4ENSMUSG0000001973418
Tmc7 / Q8C428 / Transmembrane channel-like protein 7 / Q7Z402* / transmembrane channel like 7*ENSMUSG0000004224618
Tmc8 / Q7TN58 / Transmembrane channel-like protein 8 / Q8IU68* / transmembrane channel like 8*ENSMUSG0000005010617
Tmc5 / Q32NZ6 / Transmembrane channel-like protein 5 / Q6UXY8* / transmembrane channel like 5*ENSMUSG0000003065017
Tmc6 / Q7TN60 / transmembrane channel-like gene family 6 / Q7Z403* / transmembrane channel like 6*ENSMUSG0000002557217


Protein motifs (from Interpro)
Interpro ID Name
 IPR012496  TMC domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0050910 detection of mechanical stimulus involved in sensory perception of sound ISO
 biological_processGO:0060005 vestibular reflex IGI
 biological_processGO:0070588 calcium ion transmembrane transport IMP
 biological_processGO:1903169 regulation of calcium ion transmembrane transport IGI
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032426 stereocilium tip IDA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008381 mechanosensitive ion channel activity IGI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

 MP:0001410 head bobbing "compulsive up and down movement of the head" [J:17123]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

 MP:0003879 abnormal hair cell physiology "anomolous function of the sensory epithelial cells of the inner ear" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:100987]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004362 cochlear hair cell degeneration "degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004431 abnormal hair cell mechanoelectric transduction "anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2+
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004432 abnormal cochlear hair cell physiology "anomalies in processes pertinent to the integrated function of cochlear hair cells i.e. the sensory cells in the spiral organ which are in synaptic contact with sensory as well as efferent fibers of the cochlear (auditory) nerve " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0011039 abnormal vestibuloocular dark reflex "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run without light" [MGI:smb]
Show

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1+,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
Show

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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