ENSMUSG00000004317


Mus musculus

Features
Gene ID: ENSMUSG00000004317
  
Biological name :Clcn5
  
Synonyms : Clcn5 / H(+)/Cl(-) exchange transporter 5 / Q9WVD4
  
Possible biological names infered from orthology : chloride voltage-gated channel 5 / P51795
  
Species: Mus musculus
  
Chr. number: X
Strand: -1
Band: A1.1
Gene start: 7153810
Gene end: 7319358
  
Corresponding Affymetrix probe sets: 10603289 (MoGene1.0st)   1420295_x_at (Mouse Genome 430 2.0 Array)   1429400_at (Mouse Genome 430 2.0 Array)   1441831_x_at (Mouse Genome 430 2.0 Array)   1450787_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000122555
Ensembl peptide - ENSMUSP00000004428
Ensembl peptide - ENSMUSP00000111412
NCBI entrez gene - 12728     See in Manteia.
MGI - MGI:99486
RefSeq - XM_011247446
RefSeq - XM_006527562
RefSeq - XM_011247442
RefSeq - XM_011247443
RefSeq - XM_011247444
RefSeq - XM_011247445
RefSeq - NM_001243762
RefSeq - NM_016691
RefSeq Peptide - NP_001230691
RefSeq Peptide - NP_057900
swissprot - B1ATV1
swissprot - Q9WVD4
swissprot - B1ATV0
Ensembl - ENSMUSG00000004317
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 clcn5aENSDARG00000019693Danio rerio
 clcn5bENSDARG00000022466Danio rerio
 CLCN5ENSGALG00000007234Gallus gallus
 CLCN5ENSG00000171365Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Clcn3 / P51791 / H(+)/Cl(-) exchange transporter 3 / P51790* / chloride voltage-gated channel 3*ENSMUSG0000000431972
Clcn4 / Q61418 / Mus musculus chloride channel, voltage-sensitive 4 (Clcn4), transcript variant 7, mRNA. / P51793* / chloride voltage-gated channel 4*ENSMUSG0000000060571
Clcn6 / O35454 / Chloride transport protein 6 / P51797* / chloride voltage-gated channel 6*ENSMUSG0000002901627
Clcn7 / O70496 / H(+)/Cl(-) exchange transporter 7 / P51798* / chloride voltage-gated channel 7*ENSMUSG0000003663627
Clcn2 / Q9R0A1 / Chloride channel protein 2 / P51788* / chloride voltage-gated channel 2*ENSMUSG0000002284323
Clcn1 / Q64347 / Chloride channel protein 1 / P35523* / chloride voltage-gated channel 1*ENSMUSG0000002986222
Clcnka / Q9WUB7 / Chloride channel protein ClC-Ka / CLCNKB* / P51800* / P51801* / chloride voltage-gated channel Kb* / chloride voltage-gated channel Ka*ENSMUSG0000003377020
Q9WUB6 / Clcnkb / Chloride channel protein ClC-Kb / CLCNKA* / P51800* / P51801* / chloride voltage-gated channel Ka* / chloride voltage-gated channel Kb*ENSMUSG0000000621619


Protein motifs (from Interpro)
Interpro ID Name
 IPR000644  CBS domain
 IPR001807  Chloride channel, voltage gated
 IPR002247  Chloride channel ClC-5
 IPR014743  Chloride channel, core


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0006897 endocytosis IMP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0045177 apical part of cell IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005247 voltage-gated chloride channel activity IEA
 molecular_functionGO:0005254 chloride channel activity ISO
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0015297 antiporter activity IEA
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000116 abnormal tooth development "anomalous formation of the teeth" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: ApcMin/Apc+,Ppardtm1Jps/Ppardtm1Jps
Genetic Background: involves: 129/Sv * AKR/J * C57BL/6 * C57BL/6J

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: ApcMin/Apc+,Ppardtm1Jps/Ppardtm1Jps
Genetic Background: involves: 129/Sv * AKR/J * C57BL/6 * C57BL/6J

 MP:0001759 increased urine glucose level "a greater level of excretion of glucose in the urine compared to the normal state" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn5tm2.1Tjj/Y
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn5tm1Tjj/Y
Genetic Background: involves: 129/Sv

 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: Ncoa6tm1Hhs/Ncoa6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn5tm2.1Tjj/Y
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * BALB/cJ * C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lcktm1Mak/Lcktm1Mak
Genetic Background: B6.129S2-Lcktm1Mak

 MP:0002901 hyperphosphaturia "an increase of excretion of phosphates in the urine" [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: Ncoa6tm1Hhs/Ncoa6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn5tm2.1Tjj/Y
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn5tm1Tjj/Y
Genetic Background: involves: 129/Sv

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Ncoa6tm1Hhs/Ncoa6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn5tm2.1Tjj/Y
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * BALB/cJ * C57BL/6

 MP:0003197 kidney calcification "pathologic deposition of calcium salts in the kidney" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003311 aminoaciduria "excretion of amino acids in the urine, especially in excessive amounts" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:66560]
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Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0005060 accumulation of giant lysosomes in kidney/renal tubule cells "buildup of contents in lysosomes in cells of the kidney tubules " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:5590]
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Allelic Composition: Clcn5tm1Tjj/Clcn5+,Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Tg(APOE-cre)VITew/0
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J

 MP:0005266 abnormal metabolism "anomalous chemical and physical changes occurring in tissue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ncoa6tm1Hhs/Ncoa6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0005441 hypercalciuria "excretion of abnormally large amounts of calcium in the urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:86949]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn5tm2.1Tjj/Y
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn5tm1Tjj/Y
Genetic Background: involves: 129/Sv

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn5tm2.1Tjj/Y
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn5tm1Tjj/Y
Genetic Background: involves: 129/Sv

 MP:0009350 decreased urine pH "increased urine acidity" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ncoa6tm1Hhs/Ncoa6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Clcn5tm2.1Tjj/Y
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn5tm1Tjj/Y
Genetic Background: involves: 129/Sv

 MP:0011376 abnormal kidney corticomedullary boundary morphology "any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary" [MGI:anna]
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Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0011417 abnormal renal transport "any anomaly of the directed movement of substances through the kidney" [MGI:csmith]
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Allelic Composition: Ncoa6tm1Hhs/Ncoa6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0011445 abnormal renal protein reabsorption "any anomaly in the process in which proteins are taken up from the collecting ducts and proximal and distal loops of the nephron" [GO:0097017]
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Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0011471 decreased urine creatinine level "a reduced amount of creatinine in the urine compared to the normal state" [MGI:csmith]
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Allelic Composition: Clcn5tm2.1Tjj/Y
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * BALB/cJ * C57BL/6

 MP:0011556 increased urine beta2-microglobulin level "greater than the normal amount of beta2-microglobulin in the urine; may indicate renal tubule disease, drug-induced renal toxicity, heavy metal-induced renal disease, lymphomas, leukemia, or myeloma" [MGI:anna]
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Allelic Composition: Ncoa6tm1Hhs/Ncoa6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0011559 increased urine insulin level "a greater amount of insulin in the urine compared to the normal state" [MGI:anna]
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Allelic Composition: Clcn5tm2.1Tjj/Y
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn5tm1Tjj/Y
Genetic Background: involves: 129/Sv

 MP:0020400 cystinuria "excretion of excessive amounts of cystine in the urine" [HP:0003131]
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Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0020406 hyperthreoninuria "excretion of excessive amounts of threonine in the urine" [HP:0003296]
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Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

  


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






 

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