ENSG00000166828


Homo sapiens

Features
Gene ID: ENSG00000166828
  
Biological name :SCNN1G
  
Synonyms : P51170 / SCNN1G / sodium channel epithelial 1 gamma subunit
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p12.2
Gene start: 23182715
Gene end: 23216883
  
Corresponding Affymetrix probe sets: 207295_at (Human Genome U133 Plus 2.0 Array)   241436_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000300061
NCBI entrez gene - 6340     See in Manteia.
OMIM - 600761
RefSeq - NM_001039
RefSeq Peptide - NP_001030
swissprot - A5X2V1
swissprot - P51170
Ensembl - ENSG00000166828
  
Related genetic diseases (OMIM): 177200 - Liddle syndrome, 177200
  264350 - Pseudohypoaldosteronism, type I, 264350
  613071 - Bronchiectasis with or without elevated sweat chloride 3, 613071
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 SCNN1GENSGALG00000006270Gallus gallus
 Q9WU39ENSMUSG00000000216Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P51168 / SCNN1B / sodium channel epithelial 1 beta subunitENSG0000016844736
P37088 / SCNN1A / sodium channel epithelial 1 alpha subunitENSG0000011131932
P51172 / SCNN1D / sodium channel epithelial 1 delta subunitENSG0000016257226
ASIC1 / P78348 / acid sensing ion channel subunit 1ENSG0000011088119
ASIC2 / Q16515 / acid sensing ion channel subunit 2ENSG0000010868418
ASIC3 / Q9UHC3 / acid sensing ion channel subunit 3ENSG0000021319918
ASIC4 / Q96FT7 / acid sensing ion channel subunit family member 4ENSG0000007218217
ASIC5 / Q9NY37 / acid sensing ion channel subunit family member 5ENSG0000025639416


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 TAS
 biological_processGO:0007588 excretion TAS
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0035725 sodium ion transmembrane transport IDA
 biological_processGO:0050891 multicellular organismal water homeostasis IDA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0050909 sensory perception of taste IEA
 biological_processGO:0055078 sodium ion homeostasis IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009897 external side 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:0034706 sodium channel complex IDA
 cellular_componentGO:0070062 extracellular exosome IDA
 molecular_functionGO:0005216 ion channel activity IMP
 molecular_functionGO:0005272 sodium channel activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015280 ligand-gated sodium channel activity TAS
 molecular_functionGO:0050699 WW domain binding IPI


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000112 Nephropathy "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators]
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 HP:0000127 Renal salt wasting 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000841 Hyperactive renin-angiotensin system 
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 HP:0000859 Increased plasma aldosterone 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001942 Metabolic acidosis 
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 HP:0001944 Dehydration 
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 HP:0001949 Hypokalemic alkalosis 
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 HP:0002013 Vomiting 
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 HP:0002014 Diarrhea 
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 HP:0002019 Constipation 
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 HP:0002110 Bronchiectasis 
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 HP:0002153 Hyperkalemia 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002615 Hypotension 
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 HP:0002637 Cerebral ischemia 
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 HP:0002900 Hypokalemia 
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 HP:0002902 Hyponatremia 
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 HP:0003351 Decreased renin 
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 HP:0003593 Early onset 
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 HP:0004319 Decreased aldosterone production 
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 HP:0004469 Chronic bronchitis 
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 HP:0008242 Pseudohypoaldosteronism 
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 HP:0008872 Feeding problems in infancy 
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000111319 P37088 / SCNN1A / sodium channel epithelial 1 alpha subunit  / complex
 ENSG00000168447 P51168 / SCNN1B / sodium channel epithelial 1 beta subunit  / complex
 ENSG00000162572 P51172 / SCNN1D / sodium channel epithelial 1 delta subunit  / complex






 

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