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

SCNN1G Gene

protein-coding   GIFtS: 64
GCID: GC16P023101

sodium channel, non-voltage-gated 1, gamma subunit

(Previous names: sodium channel, nonvoltage-gated 1, gamma, sodium channel,...)
 Explore 25 diseases affiliated with
SCNN1G via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SCNN1G    

Aliases
for SCNN1G gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sodium Channel, Non-Voltage-Gated 1, Gamma Subunit1 2     Amiloride-Sensitive Epithelial Sodium Channel Gamma Subunit2
SCNEG1 2 3     Amiloride-Sensitive Sodium Channel Gamma-Subunit2
ENaCgamma1 2     Amiloride-Sensitive Sodium Channel Subunit Gamma2
Sodium Channel, Nonvoltage-Gated 1, Gamma1 2     ENaC Gamma Subunit2
Epithelial Na(+) Channel Subunit Gamma2 3     Gamma-ENaC3
Nonvoltage-Gated Sodium Channel 1 Subunit Gamma2 3     Gamma-NaCH3
BESC32 5     ENaCG3
PHA12 5     Gamma-ENaC3
Sodium Channel, Non-Voltage-Gated 1, Gamma1     Gamma-NaCH3
ENaCg2     

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


Summaries
for SCNN1G gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
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 plasmid: SCNN1G 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

Proteins
for SCNN1G gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Phosphorylated on serine and threonine residues (By similarity)1
  • Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation (By similarity)1
  • 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, respectively1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51170

    • SCNN1G Protein expression data from MOPED and PaxDb:    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 Proteins at Uscn

    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:0005624membrane fraction ----
    GO:0005887integral to plasma membrane TAS8640238
    GO:0009897external side of plasma membrane IEA--
    GO:0009986cell surface ----
    GO:0016021integral to membrane ----

    SCNN1G for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SCNN1G gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SCNN1G for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB001873 Na+ channel

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


    Function
    for SCNN1G gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 IPI--
    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:
         Mouse knock-out Scnn1gtm1Bhk for SCNN1G
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SCNN1G 

    miRNA
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate SCNN1G (see all 12):
    hsa-miR-4283 hsa-miR-3659 hsa-miR-185* hsa-miR-1271 hsa-miR-3922-3p hsa-miR-513b hsa-miR-182 hsa-miR-591
    SwitchGear 3'UTR luciferase reporter plasmid: SCNN1G 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for SCNN1G gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		PKA Signaling0.56
    		cAMP Pathway0.77
    2Neuropathic Pain-Signaling in Dorsal Horn Neurons
    		Neuropathic Pain-Signaling in Dorsal Horn Neurons1.00
    		Cholera Infection0.40
    		Aldosterone Signaling in Epithelial Cells0.47
    3Ion channel transport
    		Ion channel transport1.00
    		Stimuli-sensing channels0.49
    4NO-dependent CFTR activation (normal and CF)
    		NO-dependent CFTR activation (normal and CF)1.00
    5CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    		CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)1.00

    Pathway sources
    See GeneCards unified pathways
    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:0001666response to hypoxia ----
    GO:0006814sodium ion transport TAS8521520
    GO:0007588excretion TAS8640238
    GO:0035313wound healing, spreading of epidermal cells ----
    GO:0035725sodium ion transmembrane transport ----

    SCNN1G for ontologies           About GeneDecksing



    Drugs & Compounds
    for SCNN1G gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for SCNN1G gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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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    hsa-miR-4283 hsa-miR-3659 hsa-miR-185* hsa-miR-1271 hsa-miR-3922-3p hsa-miR-513b hsa-miR-182 hsa-miR-591
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    Inhib. RNA
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    Additional cDNA sequence: 

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

    1 DOTS entry:

    DT.306328 

    24 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    Expression
    for SCNN1G gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    SCNN1G Expression
    About this image

    SCNN1G expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemCollecting Duct CellsKidney
    KidneyUreteric BudUreteric Bud CellsKidney
    KidneyRenal Collecting Duct SystemKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCNN1G

    Orthologs
    for SCNN1G gene

    (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 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 --
    --
    		 --
    		 55(a)
    36(a)
    		 1 ↔ many
    1 ↔ many
    		 GL343936.1(38727-50564)
    AAWZ02038442(1211-5030)
    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
    for SCNN1G gene

    (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  ASIC52  ASIC22  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



    Genomic Variants
    for SCNN1G gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/759 NCBI SNPs in SCNN1G are shown (see all 759)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs57381,2
    		C,F,Hpathogenic21830161(+) ACATCG/AAGTCC 2 /K /E mis117Minor allele frequency- A:0.01MN NA NS EA EU 8327
    rs57361,2
    		C,F,Hpathogenic21830203(+) AAGTCG/AGCGGT 2 /S /G mis1 ese321Minor allele frequency- A:0.02MN NA NS EA CSA EU 8976
    rs753231541,2
    		F--21281349(+) AAACAT/CAGAAT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs113098731,2
    		C,F--21281488(+) GGGGAG/-GGGGG 1 -- us2k1 tfbs3 trp33Minor allele frequency- -:0.50NA CSA 6
    rs1124081211,2
    		--21281528(+) ATGAGT/CATATA 1 -- us2k12Minor allele frequency- C:0.33CSA 3
    rs99385191,2
    		C,F--21281746(+) taaccA/Gcattc 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs99310801,2
    		C,F,A,H--21281912(+) GAAGCT/CAGGAA 1 -- us2k122Minor allele frequency- C:0.19NS EA NA CSA WA 2564
    rs726451761,2
    		F--21282071(+) AGAGAA/GATAGA 1 -- us2k11Minor allele frequency- G:0.01NS 254
    rs726451791,2
    		F--21282124(+) AGAAAG/AAAAAA 1 -- us2k11Minor allele frequency- A:0.01NS 242
    rs726451801,2
    		F--21282126(+) AAAGAA/GAAAGG 1 -- us2k11Minor allele frequency- G:0.01NS 242

    HapMap Linkage Disequilibrium report for SCNN1G (23194036 - 23228204 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SCNN1G
    DNA2.0 Custom Variant and Variant Library Synthesis for SCNN1G

    Disorders / Diseases
    for SCNN1G gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SCNN1G for disorders           About GeneDecksing

    OMIM gene information: 600761   
    OMIM disorders: 177200  264350  613071  
    UniProtKB/Swiss-Prot: SCNNG_HUMAN, P51170
  • Defects in SCNN1G are a cause of Liddle syndrome (LIDDS) [MIM:177200]. It is an 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
  • Defects in SCNN1G are the cause of bronchiectasis with or without elevated sweat chloride type 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

    20/25 diseases for SCNN1G (see all 25):    About MalaCards
    liddle syndrome    bronchiectasis with or without elevated sweat chloride 3    autosomal dominant pseudohypoaldosteronism type 1    autosomal recessive pseudohypoaldosteronism type 1
    pseudohypoaldosteronism type i    pseudohypoaldosteronism    common variable immunodeficiency    renal tubular acidosis
    ciliary dyskinesia    chronic obstructive pulmonary disease    bronchiectasis    hyperaldosteronism
    ulcerative colitis    essential hypertension    cystic fibrosis    pulmonary disease
    aldosteronism    sinusitis    fibrosis    hypertension

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

    5 Novoseek 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

    Publications
    for SCNN1G gene

    (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 146):
    (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. 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)
    3. 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)
    4. 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, 9 Mutesa L.... Bours V. (2009)
    5. Could a defective epithelial sodium channel lead to bronchiectasis. (PubMed id 18507830)1, 2, 9 Fajac I....Bienvenu T. (2008)
    6. A multilocus approach to the antihypertensive pharmacogenetics of hydrochlorothiazide. (PubMed id 15864129)1, 4 Maitland-van der Zee A.H....Boerwinkle E. (2005)
    7. Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension. (PubMed id 15661075)1, 4 Hannila-Handelberg T....Hiltunen T.P. (2005)
    8. WNK1 kinase polymorphism and blood pressure response to a thiazide diuretic. (PubMed id 16172412)1, 4 Turner S.T....Boerwinkle E. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel. (PubMed id 12167593)1, 2 McDonald F.J....Snyder P.M. (2002)

    External Searches for SCNN1G gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing SCNN1G gene

    (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

    Other Databases showing SCNN1G gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SCNN1G gene

    (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

    Intellectual Property
    for SCNN1G gene

    (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:
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