ENSMUSG00000040055


Mus musculus
cellGjb6responsecochlearconnexinjunctionmembranedegenerationhairgapearincreasedpotentialdecreasedproteininnerstimulusplasmastriavascularissebaceousglandphysiologyendocochlearhearinglevelthresholdauditorybrainstemn-terminalconserved

Features
Gene ID: ENSMUSG00000040055
  
Biological name :Gjb6
  
Synonyms : gap junction protein, beta 6 / Gjb6 / P70689
  
Possible biological names infered from orthology : O95452
  
Species: Mus musculus
  
Chr. number: 14
Strand: -1
Band: C3
Gene start: 57123303
Gene end: 57133611
  
Corresponding Affymetrix probe sets: 10420366 (MoGene1.0st)   1448397_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000035630
Ensembl peptide - ENSMUSP00000124927
NCBI entrez gene - 14623     See in Manteia.
MGI - MGI:107588
RefSeq - XM_006518561
RefSeq - NM_001010937
RefSeq - NM_001271663
RefSeq - XM_006518560
RefSeq Peptide - NP_001258592
RefSeq Peptide - NP_001010937
swissprot - P70689
swissprot - Q3URC5
swissprot - E0CX48
Ensembl - ENSMUSG00000040055
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cx30.3ENSDARG00000042707Danio rerio
 GJB2ENSGALG00000022720Gallus gallus
 GJB6ENSGALG00000017136Gallus gallus
 GJB6ENSG00000121742Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Gjb2 / Q00977 / gap junction protein, beta 2 / P29033*ENSMUSG0000004635267
Gjb1 / P28230 / gap junction protein, beta 1 / P08034*ENSMUSG0000004779757
Gjb4 / Q02738 / gap junction protein, beta 4 / Q9NTQ9*ENSMUSG0000004662344
Gjb5 / Q02739 / gap junction protein, beta 5 / O95377*ENSMUSG0000004235743
Gjb3 / P28231 / gap junction protein, beta 3 / O75712*ENSMUSG0000004236743
Gjd4 / Q8BSD4 / gap junction protein, delta 4 / Q96KN9*ENSMUSG0000003685529
Gjc3 / Q921C1 / gap junction protein, gamma 3 / Q8NFK1*ENSMUSG0000005696627


Protein motifs (from Interpro)
Interpro ID Name
 IPR000500  Connexin
 IPR013092  Connexin, N-terminal
 IPR017990  Connexin, conserved site
 IPR019570  Gap junction protein, cysteine-rich domain


Gene Ontology (GO)
cell deathcell communicationagingsystem processresponse to external stimulusresponse to chemicalresponse to biotic stimulusanatomical structure developmentresponse to abiotic stimulusregulation of biological qualitycellular response to stimuluscell deathcell communicationagingsystem processresponse to external stimulusresponse to chemicalresponse to biotic stimulusanatomical structure developmentresponse to abiotic stimulusregulation of biological qualitycellular response to stimuluscell deathcell communicationagingsystem processresponse to external stimulusresponse to chemicalresponse to biotic stimulusanatomical structure developmentresponse to abiotic stimulusregulation of biological qualitycellular response to stimuluscell deathcell communicationagingsystem processresponse to external stimulusresponse to chemicalresponse to biotic stimulusanatomical structure developmentresponse to abiotic stimulusregulation of biological qualitycellular response to stimuluscell deathcell communicationagingsystem processresponse to external stimulusresponse to chemicalresponse to biotic stimulusanatomical structure developmentresponse to abiotic stimulusregulation of biological qualitycellular response to stimuluscell deathcell communicationagingsystem processresponse to external stimulusresponse to chemicalresponse to biotic stimulusanatomical structure developmentresponse to abiotic stimulusregulation of biological qualitycellular response to stimuluscell deathcell communicationagingsystem processresponse to external stimulusresponse to chemicalresponse to biotic stimulusanatomical structure developmentresponse to abiotic stimulusregulation of biological qualitycellular response to stimuluscell deathcell communicationagingsystem processresponse to external stimulusresponse to chemicalresponse to biotic stimulusanatomical structure developmentresponse to abiotic stimulusregulation of biological qualitycellular response to stimuluscell deathcell communicationagingsystem processresponse to external stimulusresponse to chemicalresponse to biotic stimulusanatomical structure developmentresponse to abiotic stimulusregulation of biological qualitycellular response to stimuluscell deathcell communicationagingsystem processresponse to external stimulusresponse to chemicalresponse to biotic stimulusanatomical structure developmentresponse to abiotic stimulusregulation of biological qualitycellular response to stimuluscell deathcell deathcell communicell communicationagingagingsystem procesystem processresponse to response to external stimulusresponse to response to chemicalresponse to response to biotic stimulusanatomical sanatomical structure developmentresponse to response to abiotic stimulusregulation oregulation of biological qualitycellular rescellular response to stimulus
protein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein binding
cellmembranecell junctionprotein-containing complexcellmembranecell junctionprotein-containing complexcellmembranecell junctionprotein-containing complexcellmembranecell junctionprotein-containing complexcellmembranecell junctionprotein-containing complexcellmembranecell junctionprotein-containing complexcellmembranecell junctionprotein-containing complexcellmembranecell junctionprotein-containing complexcellmembranecell junctionprotein-containing complexcellmembranecell junctionprotein-containing complexcellcellmembranemembranecell junctioncell junctionprotein-containing complexprotein-containing complex
TypeGO IDTermEv.Code
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007154 cell communication IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0042471 ear morphogenesis IMP
 biological_processGO:0048839 inner ear development IEA
 biological_processGO:0051602 response to electrical stimulus IEA
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005921 gap junction IEA
 cellular_componentGO:0005922 connexin complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0030054 cell junction ISO
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Gap junction assembly


Phenotype (from MGI, Zfin or HPO)
hearing/ear phenotypeendocrine/exocrine gland phenotypeintegument phenotypebehavior/neurological phenotypenervous system phenotypecardiovascular system phenotypehomeostasis/metabolism phenotypehearing/ear phenotypeendocrine/exocrine gland phenotypeintegument phenotypebehavior/neurological phenotypenervous system phenotypecardiovascular system phenotypehomeostasis/metabolism phenotypehearing/ear phenotypeendocrine/exocrine gland phenotypeintegument phenotypebehavior/neurological phenotypenervous system phenotypecardiovascular system phenotypehomeostasis/metabolism phenotypehearing/ear phenotypeendocrine/exocrine gland phenotypeintegument phenotypebehavior/neurological phenotypenervous system phenotypecardiovascular system phenotypehomeostasis/metabolism phenotypehearing/ear phenotypeendocrine/exocrine gland phenotypeintegument phenotypebehavior/neurological phenotypenervous system phenotypecardiovascular system phenotypehomeostasis/metabolism phenotypehearing/ear phenotypeendocrine/exocrine gland phenotypeintegument phenotypebehavior/neurological phenotypenervous system phenotypecardiovascular system phenotypehomeostasis/metabolism phenotypehearing/ear phenotypeendocrine/exocrine gland phenotypeintegument phenotypebehavior/neurological phenotypenervous system phenotypecardiovascular system phenotypehomeostasis/metabolism phenotypehearing/ear phenotypeendocrine/exocrine gland phenotypeintegument phenotypebehavior/neurological phenotypenervous system phenotypecardiovascular system phenotypehomeostasis/metabolism phenotypehearing/ear phenotypeendocrine/exocrine gland phenotypeintegument phenotypebehavior/neurological phenotypenervous system phenotypecardiovascular system phenotypehomeostasis/metabolism phenotypehearing/ear phenotypeendocrine/exocrine gland phenotypeintegument phenotypebehavior/neurological phenotypenervous system phenotypecardiovascular system phenotypehomeostasis/metabolism phenotypehearing/ear phenotyphearing/ear phenotypeendocrine/exocrine gendocrine/exocrine gland phenotypeintegument phenotypeintegument phenotypebehavior/neurologicabehavior/neurological phenotypenervous system phenonervous system phenotypecardiovascular systecardiovascular system phenotypehomeostasis/metabolihomeostasis/metabolism phenotype
IDPhenotypeDefinition Genetic BG
 MP:0000043 organ of Corti degeneration "a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 MP:0000048 abnormal stria vascularis "anomalous structure of the layer of highly vascularized pigmented granular cells on the outer wall of the cochlear duct" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 MP:0000647 abnormal sebaceous gland morphology "malformation of the holocrine glands of the dermis that secrete sebum into the hair follicles" [MGI:tc]
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Allelic Composition: Cnr1tm1.1Kpm/Cnr1tm1.1Kpm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000652 enlarged sebaceous gland "increased size of the sebum secreting glands of the hair shaft" [J:30249]
Show

Allelic Composition: Cnr1tm1.1Kpm/Cnr1tm1.1Kpm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cnr1tm1.1Kpm/Cnr1tm1.1Kpm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
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Allelic Composition: Cnr1tm1.1Kpm/Cnr1tm1.1Kpm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001363 increased anxiety-related response "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:49752, J:53060]
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Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 MP:0001967 deafness "inability to hear" [J:57651]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

Allelic Composition: Gjb6tm1Kwi/Gjb6tm1Kwi
Genetic Background: involves: 129P2/OlaHsd

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 MP:0003633 abnormal nervous system physiology 
Show

Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Gjb6tm1Kwi/Gjb6+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003849 greasy coat "fur is oily in appearance or texture" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cnr1tm1.1Kpm/Cnr1tm1.1Kpm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 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]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 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: PhexHyp/Phex+
Genetic Background: C57BL/6J

 MP:0004368 abnormal stria vascularis vasculature "any structural anomaly of the blood vessels supplying the stria vascularis in the cochlea of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 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"]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 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"]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 MP:0004410 absent endocochlear potential "absence of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea, indicating a primary defect in fluid homeostasis of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 MP:0004411 decreased endocochlear potential "reduction of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

Allelic Composition: Gjb6tm1Kwi/Gjb6tm1Kwi
Genetic Background: involves: 129P2/OlaHsd

 MP:0004740 sensorineural hearing loss "a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 MP:0004999 abnormal blood-inner ear barrier function "anomaly in the function of the group of barriers and transport systems which regulate the transport of various substances from blood to inner ear tissue and maintain the microhomeostasis and functional integrity of the inner ear; the endothelial cells of the inner ear blood capillaries, linked to each other by tight junctions, represent the main component of the blood-inner ear barrier" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 MP:0005332 abnormal amino acid level "aberrant concentration of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 MP:0005643 decreased dopamine level "less than the normal concentration of this catecholamine neurotransmitter, dervied from tyrosine and the precursor to norepinephrine and epinephrine" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:88298]
Show

Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cnr1tm1.1Kpm/Cnr1tm1.1Kpm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006332 abnormal cochlear potential "anomaly in the evoked response of the cochlea" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 MP:0006403 abnormal cochlear endolymph ionic homeostasis "anomaly in the state of equilibrium in the cochlear endolymph with respect to charged molecules; cochlear endolymph is not only an unusual extracellular fluid for its high potassium ion and low sodium ion concentration but also for its low calcium ion concentration, high HCO3- concentration and low protein content" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexHyp/Phex+
Genetic Background: C57BL/6J

 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: PhexHyp/Phex+
Genetic Background: C57BL/6J

Allelic Composition: Gjb6tm1.1Fama/Gjb6tm1.1Fama
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Allelic Composition: Gjb6tm1Kwi/Gjb6tm1Kwi
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Gjb6tm2.2Kwi/Gjb6tm2.2Kwi
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6 * CD-1 * SJL

 MP:0011968 decreased threshold for auditory brainstem response "reduction 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" [MGI:csmith]
Show

Allelic Composition: Gjb6tm2.2Kwi/Gjb6tm2.2Kwi
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6 * CD-1 * SJL

 MP:0013378 increased sebocyte number "greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation" [MGI:Anna, PMID:19944183]
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Allelic Composition: Gjb6tm2.2Kwi/Gjb6tm2.2Kwi
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6 * CD-1 * SJL

  


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






 

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