ENSMUSG00000030340


Mus musculus

Features
Gene ID: ENSMUSG00000030340
  
Biological name :Scnn1a
  
Synonyms : Scnn1a / sodium channel, nonvoltage-gated 1 alpha
  
Possible biological names infered from orthology : P37088 / sodium channel epithelial 1 alpha subunit
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: F3
Gene start: 125320659
Gene end: 125344943
  
Corresponding Affymetrix probe sets: 10541885 (MoGene1.0st)   1425088_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000135798
Ensembl peptide - ENSMUSP00000080164
Ensembl peptide - ENSMUSP00000134929
Ensembl peptide - ENSMUSP00000134940
Ensembl peptide - ENSMUSP00000135336
Ensembl peptide - ENSMUSP00000135467
Ensembl peptide - ENSMUSP00000135551
NCBI entrez gene - 20276     See in Manteia.
MGI - MGI:101782
RefSeq - XM_017321471
RefSeq - NM_011324
RefSeq Peptide - NP_035454
swissprot - H3BLI2
swissprot - H3BKC4
swissprot - H3BKW1
swissprot - Q3USG4
swissprot - H3BKP2
swissprot - H3BJC3
Ensembl - ENSMUSG00000030340
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 SCNN1AENSGALG00000040424Gallus gallus
 P37088ENSG00000111319Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9WU39 / Scnn1g / Amiloride-sensitive sodium channel subunit gamma / P51170* / sodium channel epithelial 1 gamma subunit*ENSMUSG0000000021630
Q9WU38 / Scnn1b / sodium channel, nonvoltage-gated 1 beta / P51168* / sodium channel epithelial 1 beta subunit*ENSMUSG0000003087328
Asic1 / Q6NXK8 / Acid-sensing ion channel 1 / P78348* / acid sensing ion channel subunit 1*ENSMUSG0000002301717
Asic3 / Q6X1Y6 / Acid-sensing ion channel 3 / Q9UHC3* / acid sensing ion channel subunit 3*ENSMUSG0000003827617
Asic2 / Q925H0 / Acid-sensing ion channel 2 / Q16515* / acid sensing ion channel subunit 2*ENSMUSG0000002070417
Asic4 / Q7TNS7 / Acid-sensing ion channel 4 / Q96FT7* / acid sensing ion channel subunit family member 4*ENSMUSG0000003300717
Asic5 / Q9R0Y1 / Acid-sensing ion channel 5 / Q9NY37* / acid sensing ion channel subunit family member 5*ENSMUSG0000002800814


Protein motifs (from Interpro)
Interpro ID Name
 IPR001873  Epithelial sodium channel
 IPR004724  Epithelial sodium channel, chordates
 IPR020903  Epithelial sodium channel, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0050891 multicellular organismal water homeostasis IEA
 biological_processGO:0055078 sodium ion homeostasis IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031514 motile cilium IEA
 cellular_componentGO:0034706 sodium channel complex IEA
 cellular_componentGO:0060170 ciliary membrane IEA
 cellular_componentGO:0070062 extracellular exosome IEA
 molecular_functionGO:0005272 sodium channel activity IEA
 molecular_functionGO:0015280 ligand-gated sodium channel activity IEA
 molecular_functionGO:0050699 WW domain binding IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0001431 abnormal eating behavior "inability to consume or atypical consumption pattern" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:19212]
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Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
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Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pde8atm1Dgen/Pde8atm1Dgen,Pde8btm1Dgen/Pde8btm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tgfbr2tm1.1Hlm/Tgfbr2tm1.1Hlm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 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]
Show

Allelic Composition: Pde8atm1Dgen/Pde8atm1Dgen,Pde8btm1Dgen/Pde8btm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0006316 increased urine sodium level "higher than normal concentration of sodium in the urine" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pde8atm1Dgen/Pde8atm1Dgen,Pde8btm1Dgen/Pde8btm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Allelic Composition: Pde8atm1Dgen/Pde8atm1Dgen,Pde8btm1Dgen/Pde8btm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010109 abnormal renal sodium reabsorption "any anomaly in the process by which sodium ions are transported out of the renal tubules back into the bloodstream" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pde8atm1Dgen/Pde8atm1Dgen,Pde8btm1Dgen/Pde8btm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pde8atm1Dgen/Pde8atm1Dgen,Pde8btm1Dgen/Pde8btm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Spint2Gt(KST272)Byg/Spint2Gt(KST272)Byg,St14tm1Bug/St14+
Genetic Background: involves: 129P2/OlaHsd

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Tgfbr2tm1.1Hlm/Tgfbr2tm1.1Hlm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0011417 abnormal renal transport "any anomaly of the directed movement of substances through the kidney" [MGI:csmith]
Show

Allelic Composition: Bmp4tm5.1Bhr/Bmp4tm2.1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA * Swiss Webster

 MP:0011463 decreased urine bicarbonate level "a reduced amount of bicarbonate in the urine compared to the normal state" [MGI:csmith]
Show

Allelic Composition: Pde8atm1Dgen/Pde8atm1Dgen,Pde8btm1Dgen/Pde8btm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0012551 metabolic acidosis "decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease" [ISBN:0-683-40008-8]
Show

Allelic Composition: Pde8atm1Dgen/Pde8atm1Dgen,Pde8btm1Dgen/Pde8btm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0014206 decreased intestinal epithelial sodium ion transmembrane transport 
Show

Allelic Composition: Pde8atm1Dgen/Pde8atm1Dgen,Pde8btm1Dgen/Pde8btm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

  


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






 

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