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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 SCNN1G-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 bronchiectasis with or without elevated sweat chloride 3, and liddle syndrome, scnn1g-related. 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. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway
surface liquid homeostasis, which is important for proper clearance of mucus. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for SCNN1G

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • 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, respectively.
    Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation1
  • Glycosylation2 at Asn209, Asn248, Asn271, Asn291, Asn497
  • Modification sites at PhosphoSitePlus

  • See SCNN1G Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001030.2  
    ENSEMBL proteins: 
     ENSP00000300061  
    Reactome Protein details: P51170

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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:
     IPR004724 EnaC
     IPR020903 Na+channel_ASC_CS
     IPR001873 Na+channel_ASC

    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


    Find genes that share domains with SCNN1G           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway
    surface liquid homeostasis, which is important for proper clearance of mucus. 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005272sodium channel activity TAS8521520
    GO:0005515protein binding IPI11244092
    GO:0015280contributes to ligand-gated sodium channel activity IDA--
    GO:0050699WW domain binding IPI10642508
         
    Find genes that share ontologies with SCNN1G           About GenesLikeMe


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

    Find genes that share phenotypes with SCNN1G           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Scnn1gtm1Bhk for SCNN1G

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCNN1G
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    SwitchGear 3'UTR luciferase reporter plasmidSCNN1G 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SCNNG_HUMAN, P51170: Apical cell membrane; Multi-pass membrane protein. Note=Apical membrane of epithelial cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

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

    Find genes that share ontologies with SCNN1G           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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 transport0.58
    Stimuli-sensing channels0.58
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    5G-Beta Gamma Signaling
    GHRH Signaling0.46


    Find genes that share SuperPaths with SCNN1G           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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)

    1 Reactome Pathway for SCNN1G
        Stimuli-sensing channels

    1 PharmGKB Pathway for SCNN1G
        Diuretics Pathway, Pharmacodynamics

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

        Pathway & Disease-focused RT2 Profiler PCR Array including SCNN1G: 
              Hypertension in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SCNN1G

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for SCNN1G (P511702, 3 ENSP000003000614) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    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): Selected biological process terms (see all 9):    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 IDA--
    GO:0050891multicellular organismal water homeostasis IDA--

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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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)



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    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
    miRNA
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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:

    CB990728 BX105303 U48936 AI733789 NM_001039 AW572334 BC059391 BE061993 
    BV199232 L36592 BV199027 BC069652 BV199026 AI264163 AI792590 BF475503 
    AW028519 AI985987 AL036420 X87160 AL036606 BU934771 AW025990 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SCNN1G expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Collecting Duct Cells Renal Collecting Duct System
             Renal Collecting Duct System
             visceral organ/metanephros/calyx   
     
     Epithelial Cells
             Collecting Duct Cells Renal Collecting Duct System
     
     Lung (Respiratory System)
    SCNN1G Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCNN1G Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.371727
        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SCNN1G gene from Selected species (see all 12)    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 84.08(n)1
    86.29(a)1
      7 (65.07 cM)5
    202781  NM_011326.21  NP_035456.11 
     1217344795 
    chicken
    (Gallus gallus)
    Aves SCNN1G1 sodium channel, non-voltage-gated 1, gamma subunit 70.75(n)
    67.77(a)
      416579  XM_414880.3  XP_414880.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    59(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-41 , 3 mec-41 30(a)
    (best of 7)3
    42.58(n)1
    33.18(a)1
      X(16834192-16837905)3
    1817281  NM_078311.51  NP_510712.21 


    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)
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    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

    Find genes that share paralogs with SCNN1G           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SCNN1G (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
    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--------
    rs787969601,2
    C--23195021(+) ATAAC-/GT/TG 
            
    TAGTG
    1 -- int10--------
    rs351477891,2
    C--23196069(+) AAAAAA/-GACAT 1 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs1113124171,2
    C--23198431(+) TCTTTC/TTTTTT 1 -- int11Minor allele frequency- T:0.50NA 2

    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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 11 diseases for SCNN1G:    
    About MalaCards
    bronchiectasis with or without elevated sweat chloride 3    liddle syndrome, scnn1g-related    autosomal recessive pseudohypoaldosteronism type 1    miliaria rubra
    miliaria    bronchiectasis with or without elevated sweat chloride 1, modifier of    autosomal dominant pseudohypoaldosteronism type 1    liddle syndrome
    pseudohypoaldosteronism type 1    bronchiectasis    status asthmaticus

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

    Find genes that share disorders with SCNN1G           About GenesLikeMe

    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)
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    PubMed articles for SCNN1G gene, integrated from 10 sources (see all 152):
    (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. (Hypertension 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. (Chest 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. (Genomics 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. (Hypertens. Res. 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. (Hypertension 2008)
    6. Could a defective epithelial sodium channel lead to bronchiectasis. (PubMed id 18507830)1, 2, 9 Fajac I.... Bienvenu T. (Respir. Res. 2008)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Genetic factors are relevant and independent determinants of antihypertensive drug effects in a multiracial population. (PubMed id 19779464)1, 4 van Rijn-Bikker P.C....Koopmans R.P. (Am. J. Hypertens. 2009)
    9. Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (Circulation 2009)
    10. ENaCbeta and gamma genes as modifier genes in cystic fibrosis. (PubMed id 17560176)1, 4 Viel M....Bienvenu T. (J. Cyst. Fibros. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6340 HGNC: 10602 AceView: SCNN1G Ensembl:ENSG00000166828 euGenes: HUgn6340
    ECgene: SCNN1G Kegg: 6340 H-InvDB: SCNN1G

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SCNN1G Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SCNN1G[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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