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SCNN1A Gene

protein-coding   GIFtS: 67

GC12M006430
sodium channel, nonvoltage-gated 1 alpha
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SCNN1)
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Aliases &
Descriptions
for SCNN1A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

  User Feedback
Aliases & Descriptions
sodium channel, nonvoltage-gated 1 alpha1 2     alpha-ENaC2
ENaCalpha1 2     alpha ENaC-22
Nonvoltage-gated sodium channel 1 subunit alpha2 3     amiloride-sensitive epithelial sodium channel alpha subunit2
Epithelial Na(+) channel subunit alpha2 3     amiloride-sensitive sodium channel subunit alpha 22
SCNN12 3     ENaCa2
SCNEA2 3     amiloride-sensitive sodium channel subunit alpha2
BESC22 5     Alpha-ENaC3
nasal epithelial sodium channel alpha subunit2     ENaCA3
alpha-NaCH2     Alpha-NaCH3
FLJ218832     

External Ids:    HGNC: 105991   Entrez Gene: 63372   Ensembl: ENSG000001113197   UniProtKB: P370883   

Search outside databases for aliases for SCNN1A gene

Previous GC identifers: GC12M006310 GC12M006326

Summaries
for SCNN1A gene

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

  User Feedback		 Entrez Gene summary for SCNN1A:
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 alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare
salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced
transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: SCNNA_HUMAN, P37088
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 SCNN1A

Genomic Views
for SCNN1A gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the SCNN1A gene upstream (promoter) region "":
c-Fos   AP-1   c-Jun   NF-kappaB   NF-kappaB1   GR-alpha   GR-beta   p53   PPAR-gamma2   PPAR-gamma1   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for SCNN1A:  ""
MePH28269-1A   

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

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13

SCNN1A Gene in genomic location: bands according to Ensembl, locations according to "" (and/or Entrez Gene and/or Ensembl if different)
""

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M006430:  view genomic region     (about GC identifiers)

Start:
 6,456,013 bp from pter
End:
 6,484,715 bp from pter
Size:
 28,703 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000012.11  NT_009759.16  

Proteins
for SCNN1A gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 UniProtKB/Swiss-Prot: SCNNA_HUMAN, P37088 (See protein sequence)
Recommended Name: Amiloride-sensitive sodium channel subunit alpha  
Size: 669 amino acids; 75704 Da
Subunit: Heterotetramer of two 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
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Note=Apical membrane of epithelial cells
Sequence caution: Sequence=AAH06526.2; Type=Erroneous initiation;
Secondary accessions: A5X2U9 C5HTZ0 O43271 Q6GSQ6 Q9UM64
Alternative splicing: 5 isoforms:  P37088-1   P37088-2   P37088-3   P37088-4   P37088-5   

Post-translational modifications:

  • Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation (By similarity)1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (3 alternative transcripts): 
    NP_001029.1  NP_001153047.1  NP_001153048.1  


    ENSEMBL proteins: 
    ENSP00000345028 ENSP00000351825 ENSP00000380166 ENSP00000228916 ENSP00000353292 


    Human Recombinant Proteins 
    ""Millipore Purified and/or Recombinant SCNN1A Protein
    ""Browse Human Recombinant Proteins at Sigma-Aldrich
    "" Browse R&D Systems for human recombinant proteins
    ""Browse recombinant and purified proteins available from Enzo Life Sciences
    ""HuPro® and/or Recombinant Proteins from Abnova for SCNN1A ""
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    ""Browse Sino Biological Recombinant Proteins  ""

    5/8 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624 membrane fraction IEA--
    GO:0005886 plasma membrane IEA--
    GO:0009897 external side of plasma membrane IEA--
    GO:0016020 membrane ----
    GO:0016021 integral to membrane IEA--
    About this table

    "" SCNN1A for ontologies           About GeneDecksing



    Antibodies for SCNN1A: 
    ""Millipore Mono- and Polyclonal Antibodies for the study of SCNN1A
    ""Sigma-Aldrich Antibodies for SCNN1A
    "" Browse R&D Systems for Antibodies
    ""Browse Abnova for Monoclonal and Polyclonal Antibodies
    ""Browse Origene Antibodies ""
    ""Novus Biologicals Antibodies for SCNN1A
    ""Browse antibodies at Epitomics

    Assays for SCNN1A: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Browse Enzo Life Sciences for kits & assays

    Protein Domains/
    Families
    for SCNN1A gene

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

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    "" SCNN1A 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 P37088

    ProtoNet protein and cluster: P37088

    1 Blocks protein family: IPB001873 Na+ channel

    UniProtKB/Swiss-Prot: SCNNA_HUMAN, P37088
    Similarity: Belongs to the amiloride-sensitive sodium channel family

    Gene Function
    for SCNN1A gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (SCNN1A)
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 3): SCNN1A
    Origene shRNA RFP (see all 3): SCNN1A
    Origene basic RS shRNA (see all 3): SCNN1A

    ""Applied Biosystems Silencer® siRNAs for SCNN1A
    ""Sigma-Aldrich siRNA Panels and siRNA for SCNN1A
    Sigma-Aldrich shRNA Panels and shRNA for SCNN1A
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 3): SCNN1A
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): SCNN1A
    Origene untagged cDNA clones in CMV expression vector (see all 4): SCNN1A
    ""Browse Sino Biological Human cDNA Clones  ""

    UniProtKB/Swiss-Prot: SCNNA_HUMAN, P37088
    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
    Induction: By aldosterone

    Genatlas biochemistry entry for SCNN1A:
    epithelial amiloride-sensitive sodium channel,non-voltage gated in the luminal membrane of the collecting tubule of
    kidney,(NHE4-PEN),subunit alpha

    5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779 actin binding IEA--
    GO:0005216 ion channel activity IEA--
    GO:0005272 sodium channel activity ----
    GO:0005515 protein binding IPI11244092
    GO:0015280 amiloride-sensitive sodium channel activity IEA--
    About this table

    "" SCNN1A for ontologies           About GeneDecksing

    Animal Models: 5 MGI mutant phenotypes (inferred from 4 alleles"") (MGI details for Scnn1a):

    behavior/neurologicalhomeostasis/metabolismlethality-prenatal/perinatalnormalrespiratory system

    "" SCNN1A for phenotypes           About GeneDecksing

    Pathways & Interactions
    for SCNN1A gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" SCNN1A for pathways           About GeneDecksing

    2 "" Millipore Pathways for SCNN1A
      ""  Selected targets of GCR-alpha
    inward current

    2 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  SCNN1A  (Your Favorite Gene powered by Ingenuity)
      ""  Aldosterone Signaling in Epithelial Cells
    Insulin Receptor Signaling

    5/11 "" GeneAssist Pathways for SCNN1A (see all 11 )
      ""  GHRH Signaling
    Activation of cAMP-Dependent PKA
    Aldosterone Signaling in Epithelial Cells
    Neuropathic Pain - Signaling in Dorsal Horn Neurons
    PI3K Signaling

    2 "" Kegg Pathways  (Kegg details for SCNN1A):
      ""  hsa04742 Taste transduction
    hsa04960 Aldosterone-regulated sodium reabsorption

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SCNN1A

    5 Interacting proteins for SCNN1A (P370882 ENSP000003532923) via UniProtKB, MINT, and/or STRING ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEDD4P469342, ENSP000003455303MINT-14025 MINT-16750 STRING: ENSP00000345530
    STX1AENSP000002228123STRING: ENSP00000222812
    NEDD4LENSP000002568323STRING: ENSP00000256832
    SCNN1BENSP000003028743STRING: ENSP00000302874
    SCNN1GENSP000003000613STRING: ENSP00000300061
    About this table

    5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0006814 sodium ion transport IEA--
    GO:0007588 excretion TAS8589714
    GO:0050896 response to stimulus IEA--
    GO:0050909 sensory perception of taste IEA--
    About this table

    "" SCNN1A for ontologies           About GeneDecksing


    Drugs & Compounds
    for SCNN1A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

      User Feedback
    "" SCNN1A for compounds           About GeneDecksing

    "" Enzo Life Sciences drugs & compounds for SCNN1A
    ""Sigma-Aldrich Small Molecules for SCNN1A:
    Small Molecule - Inhibitor

    "" Browse Tocris compounds for SCNN1A
    10/67 ""Novoseek chemical compound relationships for SCNN1A gene (see all 67 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 72.94 85 17192279 (4), 15308680 (3), 12653683 (3), 11380824 (3) (see all 65)
    aldosterone 70.59 60 11266509 (7), 16332930 (5), 16236820 (5), 16636056 (4) (see all 30)
    dexamethasone 24.66 35 16210692 (4), 16189295 (4), 11404265 (4), 16877633 (3) (see all 17)
    amiloride 11.27 11 7603452 (2), 17977920 (2), 19823867 (1), 19234051 (1) (see all 9)
    terbutaline 9.66 8 19460695 (4), 16258001 (2), 19880505 (1), 10562630 (1)
    medroxyprogesteroneacetate 7.76 8 16189295 (7), 19841131 (1)
    org 31710 7.75 2 16189295 (2)
    nppa 4.92 2 15699455 (2)
    spironolactone 4.89 5 19234051 (1), 16912064 (1), 16332930 (1), 12682079 (1) (see all 5)
    lu135252 4.45 2 16633090 (2)
    About this table

    1 PharmGKB drug compound relationship for SCNN1A gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    glucocorticoidsFA  10419459
    About this table


    Transcripts
    for SCNN1A gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (SCNN1A)
    ""Applied Biosystems Silencer® siRNAs:  NM_001038  NM_001159575  NM_001159576  
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 3): SCNN1A
    Origene shRNA RFP (see all 3): SCNN1A
    Origene basic RS shRNA (see all 3): SCNN1A

    ""Sigma-Aldrich siRNA Panels and siRNA for SCNN1A
    Sigma-Aldrich shRNA Panels and shRNA for SCNN1A
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""3 SABiosciences microRNAs that regulate SCNN1A: ""
    hsa-miR-125a-5p hsa-miR-125b hsa-miR-24-1*
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_001038  NM_001159575  NM_001159576  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 3): SCNN1A
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): SCNN1A
    Origene untagged cDNA clones in CMV expression vector (see all 4): SCNN1A
    Primers:"" Origene genome-wide validated SYBR primer pairs: SCNN1A
    ""SABiosciences RT2 qPCR Primer Assay for SCNN1A: PPH21368A ""

    REFSEQ mRNAs for SCNN1A gene (3 alternative transcripts): 

    NM_001038.5  NM_001159575.1  NM_001159576.1  

    Additional cDNA sequence: 

    AK025536.1 AK172792.1 AK304379.1 AY365119.1 BC006526.2 BC037417.1 BC062613.1 DQ402522.1 
    X76180.1 

    20 DOTS entries:

    DT.452748  DT.92434940  DT.100680671  DT.92044705  DT.100782830  DT.91967789  DT.101984086  DT.97868354 
    DT.95201531  DT.92434939  DT.95256681  DT.100782831  DT.121189413  DT.91688475  DT.95256668  DT.95256682 
    DT.121189257  DT.95256669  DT.95256679  DT.91691051 

    24/197 AceView cDNA sequences (see all 197 ):

    AY365119 AU125381 CD675158 BQ690483 AI276391 AA477114 BC062613 AK025536 
    AU099206 BQ689552 AU124465 NM_001038 BM981737 BM839133 X76180 BG110144 
    BU163535 BC006526 BQ690364 CA395982 CD013900 CK903500 BU174404 AI017803 

    "" highest scoring ESTs for SCNN1A:

    X76180 AI354348 AA035472 AA393950 AA402773 AA402792 AA435775 AA458982 AA459197 AA477114 

    Unigene Cluster for SCNN1A:

    Sodium channel, nonvoltage-gated 1 alpha
    Hs.591047  [show with all ESTs]
    Unigene Representative Sequence: AK172792


    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for SCNN1A (see all 12 )

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^
    SP1:                          -     -                                         -                       -                             -                           
    SP2:                                                                          -                       -                             -                           
    SP3:                                                                          -                       -                             -           -               
    SP4:                                                                          -                 -     -                             -                           
    SP5:                                                                                                                                                            

    ExUns: 18a · 18b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            

    About this scheme

    ECgene alternative splicing isoforms for SCNN1A

    5 Ensembl transcripts including schematic representations:
    ENST00000338748  ENST00000358945  ENST00000396966  ENST00000228916  ENST00000360168  

    Expression
    for SCNN1A gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    SCNN1A expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for SCNN1A

    1""  / 2""  / 3""

    7 probe-sets matching SCNN1A gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    35207_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 X76180 1.00 1.00 1.00 1
    203453_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001038 0.60 1.00 0.82 1
    215026_x_at2 U133-A 1 0.91 1.00 -- -- -- -- -- -- --
    217264_s_at2 U133-A 1 0.36 1.00 -- -- -- -- -- -- --
    203453_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    215026_x_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    217264_s_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    About this table

    "" SCNN1A for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.591047

    Expression variation in blood from EXPOLDB for SCNN1A

    UniProtKB/Swiss-Prot: SCNNA_HUMAN, P37088
    Tissue specificity: Highly expressed in kidney and lung. Detected at intermediate levels in pancreas and liver, and at
    low levels in heart and placenta. Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform
    4 and isoform 5 is very low or not detectable, except in lung and heart

    Primers:"" Origene genome-wide validated SYBR primer pairs: SCNN1A ""
    ""SABiosciences RT2 qPCR Primer Assay for SCNN1A: PPH21368A ""

    Orthologs
    for SCNN1A gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

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    Orthologs for SCNN1A gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 SCNN1A1   -- sodium channel, nonvoltage-gated 1 alpha 88.46(n)
    86.98(a)    		 403650  XM_534912.2  XP_534912.2 
    chimpanzee
    (Pan troglodytes)    		 SCNN1A1   -- sodium channel, nonvoltage-gated 1 alpha 95.02(n)
    93.7(a)    		 451776  XM_508948.2  XP_508948.2 
    cow
    (Bos taurus)    		 SCNN1A1   -- sodium channel, nonvoltage-gated 1 alpha 87.37(n)
    84.44(a)    		 282348  NM_174598.2  NP_777023.1 
    rat
    (Rattus norvegicus)    		 Scnn1a1   -- sodium channel, nonvoltage-gated, type I, alpha 83.13(n)
    83.78(a)    		 25122  NM_031548.2  NP_113736.1 
    mouse
    (Mus musculus)    		 Scnn1a1, 5 6 (60.60 cM)5
    		 sodium channel, nonvoltage-gated 1 alpha1, 5 83.38(n)1
    83.58(a)1    		 202761  NM_011324.11  NP_035454.11 
     AF1121855  AF3463045  (see all 13)
    About this table        Species with no ortholog for SCNN1A

    ENSEMBL Gene Tree for SCNN1A

    Paralogs
    for SCNN1A gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

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    Paralogs for SCNN1A gene
    ACCN22  SCNN1D2  ACCN52  SCNN1B2  ACCN12  ACCN42  SCNN1G2  ACCN32  

    "" SCNN1A for paralogs           About GeneDecksing


    Genomic Variants
    for SCNN1A gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

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    8 NCBI SNPs in SCNN1A are shown
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay) (only AB snps)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs617311411,2
    		C,F6464944(+) TCACCA/C/G/T 
                TTGTT     		12 K N mis1 ref1 syn1""1""NS 1120""
    ""
    rs115428441,2
    		C,F6464581(+) CTCTGA/C/G/T 
                GCGCA     		12 T P A S mis1 ref1""4""NS NA EA WA 1322""
    --
    rs726451381,2
    		C,F6484772(+) AGGGCA/G/TGGGGG 1 -- ut51""2""NS EA 1198""
    ""
    rs37419131,2
    		C6457196(+) GGGGGA/C/G/T 
                AGAAG     		12 Y S C F mis1 ref1 ese3""5""EA NS 2888""
    --
    rs726575701,2
    		F6459121(+) TCTCCT/CGACCT 1 -- int1""1Minor allele frequency- C:0.00NS 1038""
    --
    rs619182481,2
    		C6459326(+) GGGCGC/TGGTGG 1 -- int1""1Minor allele frequency- T:0.00NA 2""
    --
    rs755887441,2
    		--6459600(+) GTCTCC/AAAAAA 1 -- int1""1Minor allele frequency- A:0.50NA 2""
    --
    rs726575711,2
    		--6459147(+) TCGGCC/ATCCCA 1 -- int1""1Minor allele frequency- A:0.00NS 1008""
    About this table
    The following additional 81 SNP(s) have been found in Applied Biosystems data source:
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)


    "" rs11542843"" rs3764873"" rs72645148"" rs2364476"" rs3759333"" rs4149573"" rs4149626
    "" rs7973914"" rs72645134"" rs6489711"" rs11064153"" rs3782727"" rs3782723"" rs4764586
    "" rs2071244"" rs4149578"" rs3782725"" rs4149570"" rs4149580"" rs4149581"" rs767455
    "" rs3782726"" rs77367957"" rs3764875"" rs4149576"" rs11608320"" rs13306616"" rs71445103
    "" rs10849448"" rs2268008"" rs12422366"" rs7972292"" rs3741914"" rs34802704"" rs6489713
    "" rs11614164"" rs3759334"" rs61759919"" rs41512347"" rs10849446"" rs13306617"" rs35423438
    "" rs4149577"" rs74059240"" rs4285931"" rs4149629"" rs2302256"" rs4764585"" rs7956915
    "" rs4149621"" rs11833597"" rs3759323"" rs2041375"" rs3764874"" rs13306613"" rs4441073
    "" rs3759324"" rs4149623"" rs11608700"" rs3782728"" rs2286600"" rs12304937"" rs41441750
    "" rs4149622"" rs6489712"" rs7957162"" rs1860545"" rs10849445"" rs7297961"" rs3782721
    "" rs36100233"" rs4149579"" rs4149627"" rs879605"" rs1042318"" rs3782724"" rs3782722
    "" rs2228576"" rs2234649"" rs11608322"" rs11064145

    HapMap Linkage Disequilibrium images for SCNN1A (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 3 variations for SCNN1A
         2 CNVs: 3872 8705
         1 Indel: 101414

    Disorders & Mutations
    for SCNN1A gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

      User Feedback
    "" SCNN1A for disorders           About GeneDecksing

    OMIM: 600228   disorders: 264350  613021  

    UniProtKB/Swiss-Prot: SCNNA_HUMAN, P37088

  • Defects in SCNN1A are a cause of autosomal recessive pseudohypoaldosteronism type 1 (PHA1) [MIM:264350]. PHA1
    • is a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. There are 2 forms
    of PHA1: the autosomal recessive form that is severe, and the dominant form which is more milder and due to defects in
    mineralocorticoid receptor. Autosomal recessive PHA1 is characterized by an often fulminant presentation in the
    neonatal period with dehydration, hyponatraemia, hyperkalaemia, metabolic acidosis, failure to thrive and weight loss
  • Defects in SCNN1A are a cause of bronchiectasis with or without elevated sweat chloride type 2 (BESC2)
    • [MIM:613021]; also called cystic fibrosis-like syndrome. BESC2 is 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 subnormal lung function, sinopulmonary infections, chronic productive
    cough, excessive sputum production, and elevated sweat chloride in some cases

    10/37 ""Novoseek disease relationships for SCNN1A gene (see all 37 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohypoaldosteronism 18.58 8 15853823 (4), 20064610 (1), 16207733 (1), 12530930 (1) (see all 5)
    pseudohypoaldosteronism, type 1 16.33 6 9326675 (3), 9316461 (1), 17317952 (1), 16618647 (1)
    liddle syndrome 6.19 3 20064610 (1), 16207733 (1), 12530930 (1)
    edema pulmonary 4.94 6 19460695 (3), 17905853 (1), 15308680 (1), 12381779 (1)
    sodium retention 3.09 3 12653683 (2), 16339392 (1)
    distress syndrome; respiratory 2.37 3 19776646 (2), 16028639 (1)
    death neonatal 2.01 2 9326675 (1), 15308680 (1)
    rieg 1.77 1 19491102 (1)
    idiopathic short stature 1.44 1 11358674 (1)
    laminitis 1.37 1 15147133 (1)
    About this table

    Locus Specific Mutation Databases: SCNN1A
    Human Gene Mutation Database: SCNN1A
    Genetic Association Database: SCNN1A
    Human Genome Epidemiology Navigator: SCNN1A (21 documents)

    Medical News
    for SCNN1A gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      User Feedback    		   --

    Publications
    for SCNN1A gene

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

      User Feedback    		10/157 PubMed articles for SCNN1A gene (see all 157 ):

    Search for SCNN1A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing SCNN1A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

      User Feedback
    Entrez Gene: 6337 HGNC: 10599 AceView: SCNN1A Ensembl:ENSG00000111319 euGenes: HUgn6337
    ECgene: SCNN1A Kegg: 6337 H-InvDB: SCNN1A

    Other Databases showing SCNN1A gene

    (According to HUGE)
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    Specialized Databases showing SCNN1A gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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      User Feedback
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCNN1A

    Intellectual Property
    for SCNN1A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section

      User Feedback    		Patent Information for SCNN1A gene: ""
    Search GeneIP for patents involving SCNN1A

    GeneCards and IP: ""
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    Services
    for SCNN1A gene

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
    Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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    Products for SCNN1A:
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    "" Regulatory tfbs in SCNN1A upstream (promoter) region
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    """"""""
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    "" Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
    "" Novus Tissue Slides
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