ENSMUSG00000025418


Mus musculus

Features
Gene ID: ENSMUSG00000025418
  
Biological name :Bsnd
  
Synonyms : Barttin / Bsnd / Q8VIM4
  
Possible biological names infered from orthology : barttin CLCNK type accessory beta subunit / Q8WZ55
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: C7
Gene start: 106483456
Gene end: 106492283
  
Corresponding Affymetrix probe sets: 10514806 (MoGene1.0st)   1421482_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000049563
NCBI entrez gene - 140475     See in Manteia.
MGI - MGI:2153465
RefSeq - NM_080458
RefSeq Peptide - NP_536706
swissprot - Q8VIM4
Ensembl - ENSMUSG00000025418
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bsndENSDARG00000086265Danio rerio
 BSNDENSGALG00000043998Gallus gallus
 BSNDENSG00000162399Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR029181  Barttin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0006873 cellular ion homeostasis ISO
 biological_processGO:0007605 sensory perception of sound NAS
 biological_processGO:0030007 cellular potassium ion homeostasis NAS
 biological_processGO:0030644 cellular chloride ion homeostasis NAS
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:1902476 chloride transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISO
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0005254 chloride channel activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017081 chloride channel regulator activity IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
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Allelic Composition: Mir126atm1.1Cjku/Mir126atm1.1Cjku
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6

 MP:0000519 hydronephrosis "dilation of the pelvis and calices of one or both kidneys" [J:56641]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

 MP:0001429 dehydration "excessive water loss from the body or from an organ or bodily part" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50053]
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Allelic Composition: Mir126atm1.1Cjku/Mir126atm1.1Cjku
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6

Allelic Composition: Bsndtm1Tjj/Bsndtm1Tjj,Foxg1tm1(cre)Skm/Foxg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * 129X1/SvJ * C57BL/6

 MP:0001762 polyuria "increased volume of urine produced and excreted" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

Allelic Composition: Bsndtm1.1Suc/Bsndtm1.1Suc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002136 abnormal kidney physiology "altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

 MP:0002608 increased hematocrit "greater than average percentage of a volume of a blood sample occupied by red blood cells" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

 MP:0002666 increased circulating aldosterone level "increased blood concentration of this hormone, secreted by the adrenal cortex, in the bloodstream; regulates sodium conservation and potassium secretion in the distal renal tubule" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

 MP:0002843 decreased blood pressure "decreased tension of the blood within the systemic arteries" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bsndtm1.1Suc/Bsndtm1.1Suc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002988 decreased urine osmolarity "reduction in the concentration of ions in the urine compared to normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:83000]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

 MP:0003016 increased circulating bicarbonate level "elevated concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

Allelic Composition: Bsndtm1.1Suc/Bsndtm1.1Suc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003020 decreased circulating chloride level "reduced concentration of chlorine salts in the circulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

Allelic Composition: Bsndtm1.1Suc/Bsndtm1.1Suc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003028 alkalosis "a pathological condition characterized by a decrease in the hydrogen ion concentration of arterial blood; caused by an increase in the concentration of alkaline compounds, or by a decrease in the concentration of acidic compounds or carbon dioxide to the body fluids" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

Allelic Composition: Bsndtm1.1Suc/Bsndtm1.1Suc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004119 hypokalemia "excessively low concentrations of potassium in the circulating blood; may be chronic or due to gastrointestinal and kidney depletion due to infection" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

Allelic Composition: Bsndtm1.1Suc/Bsndtm1.1Suc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004363 stria vascularis degeneration "degeneration or loss of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Mir126atm1.1Cjku/Mir126atm1.1Cjku
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6

 MP:0004364 thin stria vascularis "reduced thickness of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Mir126atm1.1Cjku/Mir126atm1.1Cjku
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6

 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: Mir126atm1.1Cjku/Mir126atm1.1Cjku
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6

 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"]
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Allelic Composition: Mir126atm1.1Cjku/Mir126atm1.1Cjku
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6

 MP:0004737 absent distortion product otoacoustic emissions "failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Mir126atm1.1Cjku/Mir126atm1.1Cjku
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6

 MP:0005554 decreased circulating creatinine level "less than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Galctwi/Galctwi-3J
Genetic Background: involves: C57BL/6J * CE/J

 MP:0005634 decreased circulating sodium level "less than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Bsndtm1.1Suc/Bsndtm1.1Suc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0006024 collapsed Reissner membrane "the Reissner s membrane, which normally separates the scala media from the scala vestibuli, has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator, J:37461:]
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Allelic Composition: Bsndtm1Tjj/Bsndtm1Tjj,Foxg1tm1(cre)Skm/Foxg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * 129X1/SvJ * C57BL/6

 MP:0006317 decreased urine sodium level "lower than normal concentration of sodium in the urine" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bsndtm1.1Suc/Bsndtm1.1Suc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008874 decreased sensitivity to xenobiotics "increase in the dose or concentration of a foreign compound required to induce a specific level of response" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bsndtm1.1Suc/Bsndtm1.1Suc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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]
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Allelic Composition: Mir126atm1.1Cjku/Mir126atm1.1Cjku
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Mir126atm1.1Cjku/Mir126atm1.1Cjku
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6

Allelic Composition: Bsndtm1Tjj/Bsndtm1Tjj,Foxg1tm1(cre)Skm/Foxg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * 129X1/SvJ * C57BL/6

 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]
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Allelic Composition: Mir126atm1.1Cjku/Mir126atm1.1Cjku
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000006216 Q9WUB6 / Clcnkb / Chloride channel protein ClC-Kb / CLCNKA* / P51800* / P51801* / chloride voltage-gated channel Ka* / chloride voltage-gated channel Kb*  / complex
 ENSMUSG00000033770 Clcnka / Q9WUB7 / Chloride channel protein ClC-Ka / CLCNKB* / P51800* / P51801* / chloride voltage-gated channel Kb* / chloride voltage-gated channel Ka*  / complex






 

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