ENSMUSG00000030873


Mus musculus

Features
Gene ID: ENSMUSG00000030873
  
Biological name :Scnn1b
  
Synonyms : Q9WU38 / Scnn1b / sodium channel, nonvoltage-gated 1 beta
  
Possible biological names infered from orthology : P51168 / sodium channel epithelial 1 beta subunit
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F2
Gene start: 121865038
Gene end: 121918514
  
Corresponding Affymetrix probe sets: 10557124 (MoGene1.0st)   1418475_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000145678
Ensembl peptide - ENSMUSP00000145900
Ensembl peptide - ENSMUSP00000033161
NCBI entrez gene - 20277     See in Manteia.
MGI - MGI:104696
RefSeq - NM_001272023
RefSeq - NM_011325
RefSeq Peptide - NP_001258952
RefSeq Peptide - NP_035455
swissprot - Q9WU38
swissprot - A0A0U1RNR9
swissprot - Q3TP51
swissprot - A2RS45
Ensembl - ENSMUSG00000030873
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 SCNN1BENSGALG00000006202Gallus gallus
 P51168ENSG00000168447Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9WU39 / Scnn1g / Amiloride-sensitive sodium channel subunit gamma / P51170* / sodium channel epithelial 1 gamma subunit*ENSMUSG0000000021636
Scnn1a / sodium channel, nonvoltage-gated 1 alpha / P37088* / sodium channel epithelial 1 alpha subunit*ENSMUSG0000003034031
Asic4 / Q7TNS7 / Acid-sensing ion channel 4 / Q96FT7* / acid sensing ion channel subunit family member 4*ENSMUSG0000003300720
Asic2 / Q925H0 / Acid-sensing ion channel 2 / Q16515* / acid sensing ion channel subunit 2*ENSMUSG0000002070419
Asic1 / Q6NXK8 / Acid-sensing ion channel 1 / P78348* / acid sensing ion channel subunit 1*ENSMUSG0000002301719
Asic3 / Q6X1Y6 / Acid-sensing ion channel 3 / Q9UHC3* / acid sensing ion channel subunit 3*ENSMUSG0000003827618
Asic5 / Q9R0Y1 / Acid-sensing ion channel 5 / Q9NY37* / acid sensing ion channel subunit family member 5*ENSMUSG0000002800817


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 ISO
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0050909 sensory perception of taste IEA
 biological_processGO:0055078 sodium ion homeostasis ISS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0034706 sodium channel complex IEA
 cellular_componentGO:0070062 extracellular exosome ISO
 molecular_functionGO:0005272 sodium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015280 ligand-gated sodium channel activity IEA
 molecular_functionGO:0050699 WW domain binding ISO


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001284 absent vibrissae "missing whiskers" [J:18378]
Show

Allelic Composition: Scarb1tm1b(EUCOMM)Wtsi/Scarb1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Scarb1tm1b(EUCOMM)Wtsi/Bay

 MP:0001625 cardiac hypertrophy "an increase in size of the cardiac tissue, not due to increased cell number " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Pik3cdtm1Tnr/Pik3cdtm1Tnr
Genetic Background: involves: 129S4/SvJae

 MP:0001663 abnormal digestive system physiology "altered function of the organ system that converts ingested food to nutrients and energy" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pik3cdtm1Tnr/Pik3cdtm1Tnr
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Scnn1btm1.1Ipt/Scnn1b+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pik3cdtm1Tnr/Pik3cdtm1Tnr
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Scnn1btm1.1Ipt/Scnn1b+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

 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: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Scnn1btm1.1Hum/Scnn1btm1.1Hum
Genetic Background: involves: 129P2/OlaHsd

 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: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002667 decreased circulating aldosterone level "decreased blood concentration of this hormone, secreted by the adrenal cortex, in the bloodstream; regulates sodium conservation and potassium secretion in the distal renal tubule" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pik3cdtm1Tnr/Pik3cdtm1Tnr
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Scnn1btm1.1Ipt/Scnn1b+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

 MP:0003019 increased circulating chloride level "elevated concentration of chlorine salts in the circulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 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]
Show

Allelic Composition: Pik3cdtm1Tnr/Pik3cdtm1Tnr
Genetic Background: involves: 129S4/SvJae

 MP:0003345 decreased number of ribs "fewer than normal numbers of the pairs of bony structures that make up the body wall" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Scarb1tm1b(EUCOMM)Wtsi/Scarb1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Scarb1tm1b(EUCOMM)Wtsi/Bay

 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]
Show

Allelic Composition: Pik3cdtm1Tnr/Pik3cdtm1Tnr
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Scnn1btm1.1Ipt/Scnn1b+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

 MP:0004217 salt-sensitive hypertension "sustained high blood pressure that is maintained with a normal or increase in the amount of salt consumed in the diet; blood pressure may return to normotensive with a low salt diet" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pik3cdtm1Tnr/Pik3cdtm1Tnr
Genetic Background: involves: 129S4/SvJae

 MP:0004509 abnormal pelvic girdle bone morphology "any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton " [MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Scarb1tm1b(EUCOMM)Wtsi/Scarb1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Scarb1tm1b(EUCOMM)Wtsi/Bay

 MP:0005627 increased circulating potassium level "greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 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]
Show

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0006144 increased systolic blood pressure "abnormal increase in the pressure in the arteries as the heart contracts and pumps blood into the arteries" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Scnn1btm1.1Ipt/Scnn1b+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

 MP:0009643 abnormal urine homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0010127 hypervolemia "an abnormally increased amount of space occupied by blood in the vessels" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pik3cdtm1Tnr/Pik3cdtm1Tnr
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Scnn1btm1.1Ipt/Scnn1b+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

 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]
Show

Allelic Composition: Scnn1btm1.1Hum/Scnn1btm1.1Hum
Genetic Background: involves: 129P2/OlaHsd

 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: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 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: Scarb1tm1b(EUCOMM)Wtsi/Scarb1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Scarb1tm1b(EUCOMM)Wtsi/Bay

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000216 Q9WU39 / Scnn1g / Amiloride-sensitive sodium channel subunit gamma / P51170* / sodium channel epithelial 1 gamma subunit*  / complex






 

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