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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SCNN1G Gene

protein-coding   GIFtS: 65
GCID: GC16P023101

Sodium Channel, Non-Voltage-Gated 1, Gamma Subunit

(Previous names: sodium channel, nonvoltage-gated 1, gamma, sodium channel,...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sodium Channel, Non-Voltage-Gated 1, Gamma Subunit1 2     Amiloride-Sensitive Epithelial Sodium Channel Gamma Subunit2
Sodium Channel, Nonvoltage-Gated 1, Gamma1 2     Amiloride-Sensitive Sodium Channel Gamma-Subunit2
Epithelial Na(+) Channel Subunit Gamma2 3     Amiloride-Sensitive Sodium Channel Subunit Gamma2
Nonvoltage-Gated Sodium Channel 1 Subunit Gamma2 3     ENaC Gamma Subunit2
SCNEG2 3     gamma-ENaC2
BESC32 5     gamma-NaCH2
PHA12 5     ENaCG3
Sodium Channel, Non-Voltage-Gated 1, Gamma1     Gamma-ENaC3
ENaCg2     Gamma-NaCH3
ENaCgamma2     

External Ids:    HGNC: 106021   Entrez Gene: 63402   Ensembl: ENSG000001668287   OMIM: 6007615   UniProtKB: P511703   

Export aliases for SCNN1G gene to outside databases

Previous GC identifers: GC16P022606 GC16P023285 GC16P023125 GC16P023164 GC16P023160 GC16P021283


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SCNN1G Gene:
Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in
many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene
encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. (provided by
RefSeq, Apr 2009)

GeneCards Summary for SCNN1G Gene: 
SCNN1G (sodium channel, non-voltage-gated 1, gamma subunit) is a protein-coding gene. Diseases associated with SCNN1G include autosomal recessive pseudohypoaldosteronism type 1, and bronchiectasis with or without elevated sweat chloride 3, and among its related super-pathways are Activation of cAMP-Dependent PKA and Aldosterone Signaling in Epithelial Cells. GO annotations related to this gene include WW domain binding and ligand-gated sodium channel activity. An important paralog of this gene is SCNN1B.

UniProtKB/Swiss-Prot: SCNNG_HUMAN, P51170
Function: Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the
electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of
epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role
in taste perception

Gene Wiki entry for SCNN1G Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SCNN1G gene promoter:
         GR   AML1a   GR-beta   Lmo2   AP-2gamma   AREB6   AP-2beta   GR-alpha   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCNN1G promoter sequence
   Search SABiosciences Chromatin IP Primers for SCNN1G

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCNN1G


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p12

SCNN1G Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCNN1G gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P023101:  view genomic region     (about GC identifiers)

Start:
23,194,036 bp from pter      End:
23,228,204 bp from pter
Size:
34,169 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SCNNG_HUMAN, P51170 (See protein sequence)
Recommended Name: Amiloride-sensitive sodium channel subunit gamma  
Size: 649 amino acids; 74270 Da
Subunit: Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace
the alpha subunit. Interacts with the WW domains of NEDD4, NEDD4L, WWP1 and WWP2. Interacts with the full length
immature form of PCSK9 (pro-PCSK9) (By similarity)
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Note=Apical membrane of epithelial cells
Secondary accessions: P78437 Q6PCC2 Q93023 Q93024 Q93025 Q93026 Q93027 Q96TD2

Explore the universe of human proteins at neXtProt for SCNN1G: NX_P51170

Explore proteomics data for SCNN1G at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on serine and threonine residues (By similarity)
  • UniProtKB: Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation (By
    similarity)
  • UniProtKB: ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open
    probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51170

  • SCNN1G Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SCNN1G Protein Expression
    REFSEQ proteins: NP_001030.2  
    ENSEMBL proteins: 
     ENSP00000300061  
    Reactome Protein details: P51170
    Human Recombinant Protein Products for SCNN1G: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8640238
    GO:0009897external side of plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane ----

    SCNN1G for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SCNN: Ion channels / Sodium channel, nonvoltage-gated
    SC: Sodium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: ENaC &gamma 
    Epithelial sodium channels (ENaC)

    3 InterPro protein domains:
     IPR020903 Na+channel_ASC_CS
     IPR001873 Na+channel_ASC
     IPR004724 EnaC

    Graphical View of Domain Structure for InterPro Entry P51170

    ProtoNet protein and cluster: P51170

    1 Blocks protein domain: IPB001873 Na+ channel

    UniProtKB/Swiss-Prot: SCNNG_HUMAN, P51170
    Similarity: Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1G subfamily


    SCNN1G for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCNNG_HUMAN, P51170
    Function: Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the
    electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of
    epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role
    in taste perception
    Enzyme regulation: Activated by WNK1, WNK2, WNK3 and WNK4 (By similarity)

         Genatlas biochemistry entry for SCNN1G:
    epithelial amiloride-sensitive sodium channel,non-voltage gated in the luminal membrane of the collecting tubule
    of kidney,subunit gamma,mediating net renal reabsorption of sodium in the distal tubule,regulated by aldosterone

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005272sodium channel activity TAS8521520
    GO:0005515protein binding IPI11244092
    GO:0015280ligand-gated sodium channel activity IEA--
    GO:0050699WW domain binding IPI10642508
         
    SCNN1G for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Scnn1g):
     behavior/neurological  growth/size  homeostasis/metabolism  integument  mortality/aging 
     normal  other  renal/urinary system  respiratory system 

    SCNN1G for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Scnn1gtm1Bhk for SCNN1G

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SCNN1G 
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    SwitchGear 3'UTR luciferase reporter plasmidSCNN1G 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SCNN1G About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    3Ion channel transport
    Ion channel transport0.49
    Stimuli-sensing channels0.49
    4SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    5G-Beta Gamma Signaling
    GHRH Signaling0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SCNN1G
        Sodium channels and transporters- inward current

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SCNN1G (see all 7)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    PKA Signaling
    cAMP Pathway
    Aldosterone Signaling in Epithelial Cells

    2 GeneGo (Thomson Reuters) Pathways for SCNN1G
        CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    NO-dependent CFTR activation (normal and CF)

    3        Reactome Pathways for SCNN1G
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport

    1 PharmGKB Pathway for SCNN1G
        Diuretics Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for SCNN1G):
        Taste transduction
    Aldosterone-regulated sodium reabsorption


    SCNN1G for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SCNN1G

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/16 Interacting proteins for SCNN1G (P511702, 3 ENSP000003000614) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEDD4P469342, 3, ENSP000003455304MINT-17641 I2D: score=3 STRING: ENSP00000345530
    WWP2O003083, ENSP000003482834I2D: score=2 STRING: ENSP00000348283
    AP1M2Q9Y6Q53, ENSP000002502444I2D: score=1 STRING: ENSP00000250244
    COMMD1Q8N6683, ENSP000003082364I2D: score=1 STRING: ENSP00000308236
    EPN1Q9Y6I33, ENSP000004062094I2D: score=1 STRING: ENSP00000406209
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006814sodium ion transport TAS8521520
    GO:0007588excretion TAS8640238
    GO:0034220ion transmembrane transport TAS--
    GO:0035725sodium ion transmembrane transport ----
    GO:0050896response to stimulus IEA--

    SCNN1G for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SCNN1G for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SCNN1G (SCNNG)

    2 HMDB Compounds for SCNN1G    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--
    Triamterene6-Phenyl-2,4,7-triaminopteridine (see all 25)396-01-0--

    2 DrugBank Compounds for SCNN1G    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmilorideAmilorida [INN-Spanish] (see all 6)2016-88-8targetinhibitor12503866 15547682 12396248 11463765 11344206
    Triamterene-- 396-01-0targetinhibitor12827214 17139284 8772124 17016423 11509829

    4 Novoseek inferred chemical compound relationships for SCNN1G gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 72.9 29 8640238 (1), 11463765 (1), 19017867 (1), 8617496 (1) (see all 13)
    progesterone 0 1 16172119 (1)
    tyrosine 0 1 16172119 (1)
    cysteine 0 1 17522058 (1)

    Search CenterWatch for drugs/clinical trials and news about SCNN1G / SCNNG

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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    About This Section

    REFSEQ mRNAs for SCNN1G gene: 
    NM_001039.3  

    Unigene Cluster for SCNN1G:

    Sodium channel, non-voltage-gated 1, gamma subunit
    Hs.371727  [show with all ESTs]
    Unigene Representative Sequence: BC059391
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000300061(uc002dlm.1)
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    Additional mRNA sequence: 

    BC059391.1 BC069652.1 DQ402524.1 L36592.1 U48936.1 X87160.1 

    1 DOTS entry:

    DT.306328 

    24 AceView cDNA sequences:

    U48936 AI733789 CB990728 BX105303 AW572334 BV199232 L36592 BC059391 
    BC069652 BE061993 NM_001039 BV199027 AI264163 AI792590 AW028519 BF475503 
    BV199026 X87160 AI985987 AL036420 AW025990 AL036606 BU934771 AW298574 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SCNN1G expression in normal human tissues (normalized intensities)      SCNN1G embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SCNN1G Expression
    About this image


    SCNN1G expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Collecting Duct Cells Renal Collecting Duct System
             Renal Collecting Duct System
             visceral organ/metanephros/calyx   
     
     Lower Urinary Tract (Urinary System)
             visceral organ/metanephros/calyx   
     
     Lung (Respiratory System)

    See SCNN1G Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SCNN1G

    SOURCE GeneReport for Unigene cluster: Hs.371727
        SABiosciences Expression via Pathway-Focused PCR Array including SCNN1G: 
              Hypertension in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCNN1G

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SCNN1G gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scnn1g1 , 5 sodium channel, nonvoltage-gated 1 gamma1, 5 84.1(n)1
    86.42(a)1
      7 (65.07 cM)5
    202781  NM_011326.21  NP_035456.11 
     1217344795 
    chicken
    (Gallus gallus)
    Aves SCNN1G1 sodium channel, nonvoltage-gated 1, gamma 70.75(n)
    67.77(a)
      416579  XM_414880.2  XP_414880.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    58(a)
    57(a)
    1 ↔ many
    1 ↔ many
    AAWZ02038442(1211-9974)
    GL343936.1(38727-50564)
    African clawed frog
    (Xenopus laevis)
    Amphibia gamma2xENaC-A2 gamma2 subunit of epithelial sodium channel 76.02(n)    Y12001.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mec-43   -- 30(a)
    (best of 7)
      X(16834192-16837905)   --


    ENSEMBL Gene Tree for SCNN1G (if available)
    TreeFam Gene Tree for SCNN1G (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SCNN1G gene
    SCNN1B2  ASIC32  SCNN1A2  ASIC42  SCNN1D2  ASIC22  ASIC52  ASIC12  
    3 SIMAP similar genes for SCNN1G using alignment to 7 protein entries:     SCNNG_HUMAN (see all proteins):
    SCNN1B    SCNN1A    SCNN1D

    SCNN1G for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/925 SNPs in SCNN1G are shown (see all 925)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364834
    A colorectal cancer sample4--see VAR_0364832 G R mis40--------
    rs57361,2,4
    C,F,Hpathogenic124100711(+) AAGTCG/AGCGGT 2 /S /G mis1 ese321Minor allele frequency- A:0.02MN NA NS EA CSA EU 8976
    rs57381,2,4
    C,F,Hpathogenic124100753(+) ACATCG/AAGTCC 2 /K /E mis117Minor allele frequency- A:0.01MN NA NS EA EU 8327
    VAR_0158434
    ----see VAR_0158432 A P mis40--------
    VAR_0158444
    ----see VAR_0158442 A S mis40--------
    VAR_0158424
    ----see VAR_0158422 R W mis40--------
    rs726464691,2
    F--21282220(+) AAGAGA/GAAGGA 1 -- us2k11Minor allele frequency- G:0.05NS 244
    rs49679911,2
    A--21304816(+) ATATAG/TAGAGA 1 -- int10--------
    rs725326591,2
    C--21306668(+) AGACAG/-GCAAT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs3717082221,2
    C--23192937(+) AAAGA-/AAAG  
            
    AAGAA
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SCNN1G (23194036 - 23228204 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SCNN1G: --

    Human Gene Mutation Database (HGMD): SCNN1G

    Locus Specific Mutation Databases (LSDB): SCNN1G
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SCNN1G
    DNA2.0 Custom Variant and Variant Library Synthesis for SCNN1G

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600761   
    OMIM disorders: 177200  264350  613071  
    UniProtKB/Swiss-Prot: SCNNG_HUMAN, P51170
  • Liddle syndrome (LIDDS) [MIM:177200]: Autosomal dominant disorder characterized by pseudoaldosteronism
    and hypertension associated with hypokalemic alkalosis. The disease is caused by constitutive activation of the
    renal epithelial sodium channel. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Bronchiectasis with or without elevated sweat chloride 3 (BESC3) [MIM:613071]: A debilitating respiratory
    disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in
    the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common
    variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function,
    sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in
    some cases. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/24 diseases for SCNN1G (see all 24):    About MalaCards
    autosomal recessive pseudohypoaldosteronism type 1    bronchiectasis with or without elevated sweat chloride 3    liddle syndrome, scnn1g-related    miliaria rubra
    liddle syndrome    autosomal dominant pseudohypoaldosteronism type 1    pseudohypoaldosteronism type 1    bronchiectasis
    miliaria    pseudohypoaldosteronism    renal tubular acidosis    hyperaldosteronism
    common variable immunodeficiency    chronic obstructive pulmonary disease    sinusitis    essential hypertension
    ulcerative colitis    cystic fibrosis    hypertension    cholera

    5 diseases from the University of Copenhagen DISEASES database for SCNN1G:
    Pseudohypoaldosteronism     Liddle syndrome     Hypertension     Miliaria rubra
    Metabolic acidosis

    SCNN1G for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for SCNN1G gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohypoaldosteronism 95.9 20 14715854 (2), 7593448 (1), 20064610 (1), 8640238 (1) (see all 17)
    liddles syndrome 93.7 10 10720933 (1), 20064610 (1), 9325269 (1), 11463765 (1) (see all 9)
    hyperkalemia 64.1 4 9662404 (1), 11134129 (1), 11231969 (1), 14715854 (1)
    metabolic acidosis 48 4 9662404 (1), 11134129 (1), 11231969 (1), 14715854 (1)
    hypotension 38.7 4 9662404 (1), 11134129 (1), 18691017 (1), 14715854 (1)

    Genetic Association Database (GAD): SCNN1G
    Human Genome Epidemiology (HuGE) Navigator: SCNN1G (17 documents)

    Export disorders for SCNN1G gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SCNN1G gene, integrated from 9 sources (see all 149):
    (articles sorted by number of sources associating them with SCNN1G)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of sodium channel gamma-subunit promoter variant with blood pressure. (PubMed id 11463765)1, 4, 7, 9 Iwai N....Ogata J. (2001)
    2. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. (PubMed id 19017867)1, 2, 4, 9 Mutesa L.... Bours V. (2009)
    3. Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel. (PubMed id 7490094)1, 2, 3 Voilley N.... Barbry P. (1995)
    4. Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives. (PubMed id 15198480)1, 4, 9 Kamide K....Miyata T. (2004)
    5. Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. (PubMed id 18443236)1, 4, 9 Tobin M.D....Samani N.J. (2008)
    6. Could a defective epithelial sodium channel lead to bronchiectasis. (PubMed id 18507830)1, 2, 9 Fajac I....Bienvenu T. (2008)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Genetic factors are relevant and independent determin ants of antihypertensive drug effects in a multiracial population. (PubMed id 19779464)1, 4 van Rijn-Bikker P.C....Koopmans R.P. (2009)
    9. Integrative predictive model of coronary artery calci fication in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (2009)
    10. ENaCbeta and gamma genes as modifier genes in cystic fibrosis. (PubMed id 17560176)1, 4 Viel M....Bienvenu T. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6340 HGNC: 10602 AceView: SCNN1G Ensembl:ENSG00000166828 euGenes: HUgn6340
    ECgene: SCNN1G Kegg: 6340 H-InvDB: SCNN1G

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SCNN1G Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCNN1G

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SCNN1G gene:
    Search GeneIP for patents involving SCNN1G

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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