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

SCNN1D Gene

protein-coding   GIFtS: 67
GCID: GC01P001215

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

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Sodium Channel, Non-Voltage-Gated 1, Delta Subunit1 2     dNaCh2
Sodium Channel, Nonvoltage-Gated 1, Delta1 2     delta-ENaC2
Epithelial Na(+) Channel Subunit Delta2 3     delta-NaCH2
Nonvoltage-Gated Sodium Channel 1 Subunit Delta2 3     Sodium Channel, Voltage-Gated, Type I, Delta Polypeptide2
SCNED2 3     DNACH3
Sodium Channel, Non-Voltage-Gated 1, Delta1     Delta-ENaC3
ENaCd2     Delta-NaCH3
ENaCdelta2     ENaCD3
Amiloride-Sensitive Sodium Channel Subunit Delta2     

External Ids:    HGNC: 106011   Entrez Gene: 63392   Ensembl: ENSG000001625727   OMIM: 6013285   UniProtKB: P511723   
ORGUL members:         
NONCODE14:n410525      

Export aliases for SCNN1D gene to outside databases

Previous GC identifers: GC01P000746 GC01P000969 GC01P001092 GC01P001124 GC01P001125 GC01P001255 GC01P001204 GC01P000489


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

GeneCards Summary for SCNN1D Gene: 
SCNN1D (sodium channel, non-voltage-gated 1, delta subunit) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SCNN1D include liddle syndrome, and cholera, and among its related super-pathways are Activation of cAMP-Dependent PKA and Aldosterone Signaling in Epithelial Cells. GO annotations related to this gene include protein binding and ligand-gated sodium channel activity. An important paralog of this gene is SCNN1B.

UniProtKB/Swiss-Prot: SCNND_HUMAN, P51172
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

summary for SCNN1D Gene:
Epithelial sodium channels (ENaCs) are highly selective Na+ channels that are localized to polarized
epithelial cells. They are responsible for sodium reabsorption in the distal kidney tubule, and have similar
functions in the alveoli and colon. These channels transport Na+ across the epithelium using energy from the
Na+, K+-ATPase, and constitute one of the essential mechanisms in regulation of sodium balance, blood volume
and blood pressure. There are four ENaC subunits; alpha, beta, gamma and delta, which form functional
heterotetramers. The kidney ENaC is thought to be a heterotetramer of 2alpha:1beta:1gamma. ENaCs are
tonically open at rest. Ion flux is regulated by aldosterone-, vasopressin- and glucocorticoid-mediated
changes in ENaC gene transcription and phosphatidylinositides act to stabilize the channel.

Gene Wiki entry for SCNN1D Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004350.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SCNN1D gene promoter:
         NF-1   LCR-F1   ITF-2   Tal-1beta   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCNN1D promoter sequence
   Search SABiosciences Chromatin IP Primers for SCNN1D

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCNN1D


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

Entrez Gene cytogenetic band: 1p36.3-p36.2   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.3-p36.2

SCNN1D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCNN1D gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P001215:  view genomic region     (about GC identifiers)

Start:
1,215,816 bp from pter      End:
1,227,409 bp from pter
Size:
11,594 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: SCNND_HUMAN, P51172 (See protein sequence)
Recommended Name: Amiloride-sensitive sodium channel subunit delta  
Size: 638 amino acids; 70215 Da
Subunit: Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace
the alpha subunit
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: A9Z1X6 B1PS44 Q08AQ3 Q09HT0 Q5T7L3 Q8NA24
Alternative splicing: 2 isoforms:  P51172-1   P51172-2   (Channels including isoform 2 exhibit greater conductance than those containing isoform 1. Ref.2 (ABI64069) sequence is in conflict in position: 78:T->A)

Explore the universe of human proteins at neXtProt for SCNN1D: NX_P51172

Explore proteomics data for SCNN1D at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51172

  • SCNN1D Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SCNN1D Protein Expression
    REFSEQ proteins: NP_001123885.2  
    ENSEMBL proteins: 
     ENSP00000368411   ENSP00000449804   ENSP00000339504   ENSP00000420548   ENSP00000321594  
     ENSP00000368393   ENSP00000383717  
    Reactome Protein details: P51172
    Human Recombinant Protein Products for SCNN1D: 
    EMD Millipore Purified and/or Recombinant SCNN1D Protein
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    Novus Biologicals SCNN1D Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    SCNN1D for ontologies           About GeneDecksing



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

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

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

    Graphical View of Domain Structure for InterPro Entry P51172

    ProtoNet protein and cluster: P51172

    1 Blocks protein domain: IPB001873 Na+ channel

    UniProtKB/Swiss-Prot: SCNND_HUMAN, P51172
    Similarity: Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1D subfamily


    SCNN1D for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCNND_HUMAN, P51172
    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

         Genatlas biochemistry entry for SCNN1D:
    epithelial amiloride-sensitive sodium channel,non-voltage gated,isoform delta,expressed in
    ovary,testis,pancreas,brain,homolog to C elegans degenerin,putatively involved in neurodegeneration

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005272sodium channel activity ----
    GO:0005515protein binding IPI14645214
    GO:0015280ligand-gated sodium channel activity IEA--
         
    SCNN1D for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SCNN1D:
     Decreased influenza A/WSN/33 r 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidSCNN1D 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SCNN1D About   (see all 8)                                                                                              See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SCNN1D
        Sodium channels and transporters- inward current

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SCNN1D (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 SCNN1D
        CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    NO-dependent CFTR activation (normal and CF)


    3        Reactome Pathways for SCNN1D
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    SCNN1D for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SCNN1D

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

    5 Interacting proteins for SCNN1D (P511721, 3 ENSP000003215944) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COMMD1Q8N6681, 3, ENSP000003082364EBI-2547114,EBI-1550112 I2D: score=2 STRING: ENSP00000308236
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    C1orf123ENSP000002943604STRING: ENSP00000294360
    SCNN1BENSP000003457514STRING: ENSP00000345751
    SCNN1GENSP000003000614STRING: ENSP00000300061
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006814sodium ion transport TAS7499195
    GO:0034220ion transmembrane transport TAS--
    GO:0050896response to stimulus IEA--
    GO:0050909sensory perception of taste IEA--
    GO:0055085transmembrane transport TAS--

    SCNN1D for ontologies           About GeneDecksing



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

    Compounds for SCNN1D available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PhenamilInhibits TRPP3-mediated currents; also inhibits epithelial Na+ channels[1161-94-0]

    2 HMDB Compounds for SCNN1D    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 SCNN1D    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmilorideAmilorida [INN-Spanish] (see all 6)2016-88-8targetinhibitor16423824 14660613 16033954 14726523 16107516
    Triamterene-- 396-01-0targetinhibitor17139284 17016423 11509829

    Search CenterWatch for drugs/clinical trials and news about SCNN1D / SCNND

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SCNN1D gene (2 alternative transcripts): 
    NM_002978.2  NM_001130413.3  

    Unigene Cluster for SCNN1D:

    Sodium channel, non-voltage-gated 1, delta subunit
    Hs.512681  [show with all ESTs]
    Unigene Representative Sequence: AK131558
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379116(uc001adt.1 uc001adu.1) ENST00000379101 ENST00000338555
    ENST00000470022 ENST00000325425(uc001adw.2 uc001adv.2 uc001adx.2)
    ENST00000467651 ENST00000379099 ENST00000400928

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    Additional mRNA sequence: 

    AK093239.1 AK131558.1 BC036752.1 BC040882.1 BC125074.1 DQ898175.1 DQ898176.1 DQ898177.1 
    EU489064.1 NR_037668.2 U38254.1 

    11 DOTS entries:

    DT.100735118  DT.101966773  DT.404505  DT.97804577  DT.100023255  DT.102823953  DT.97792465  DT.100735233 
    DT.121434414  DT.121434424  DT.121434426 

    24/65 AceView cDNA sequences (see all 65):

    BM920480 CK825150 BC040882 BM544646 CA776745 BU729671 CA945131 BF991466 
    AA622685 BQ711522 NM_002978 AK127357 BM314926 BI520370 BF991464 BM969394 
    BM353290 BM715513 CK825149 BU078901 CA419118 AI361695 AX748083 AI361696 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SCNN1D (see all 8)    About this scheme

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

    ExUns: 17 ^ 18 ^ 19a · 19b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for SCNN1D

    (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

    SCNN1D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCACACGTC
    SCNN1D Expression
    About this image


    See SCNN1D Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SCNN1D

    SOURCE GeneReport for Unigene cluster: Hs.512681
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCNN1D

    (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 SCNN1D gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia SCNN1D1 sodium channel, non-voltage-gated 1, delta subunit 77.17(n)
    68.48(a)
      489598  XM_546718.3  XP_546718.3 
    chicken
    (Gallus gallus)
    Aves SCNN1D1 sodium channel, nonvoltage-gated 1, delta 56.95(n)
    47.47(a)
      428184  XM_425742.3  XP_425742.3 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-83 degenerin 28(a)
    (best of 2)
      IV(7198680-7203685)   --


    ENSEMBL Gene Tree for SCNN1D (if available)
    TreeFam Gene Tree for SCNN1D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SCNN1D gene
    SCNN1B2  ASIC32  SCNN1G2  SCNN1A2  ASIC42  ASIC22  ASIC52  ASIC12  
    3 SIMAP similar genes for SCNN1D using alignment to 7 protein entries:     SCNND_HUMAN (see all proteins):
    SCNN1A    SCNN1B    SCNN1G

    SCNN1D for paralogs           About GeneDecksing



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

    10/486 SNPs in SCNN1D are shown (see all 486)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0282134
    ----see VAR_0282132 G S mis40--------
    VAR_0282124
    ----see VAR_0282122 C Y mis40--------
    VAR_0282114
    ----see VAR_0282112 A T mis40--------
    VAR_0282144
    ----see VAR_0282142 G R mis40--------
    rs75524601,2
    C,F--1213930(+) tgcaaC/Tggcac 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs66657911,2
    C,F--1213936(+) ggcacA/Gatctc 2 -- us2k16Minor allele frequency- G:0.41NA WA CSA EA 129
    rs1823488191,2
    --1213992(+) CTAAGA/CCTCCC 2 -- us2k10--------
    rs1869593491,2
    --1213993(+) TAAGCC/TTCCCA 2 -- us2k10--------
    rs1438839451,2
    C--1213995(+) AGCCTC/GCCAAG 2 -- us2k10--------
    rs1167416831,2
    F--1214077(+) TCTGTC/TGGTCA 2 -- us2k11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for SCNN1D (1215816 - 1227409 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/39 variations for SCNN1D (see all 39):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1027332CNV Deletion17803354
    dgv1e199CNV Deletion23128226
    esv1653789CNV Deletion17803354
    esv2746030CNV Deletion23290073
    esv2745918CNV Deletion23290073
    esv2106414CNV Deletion18987734
    esv1323061CNV Insertion17803354
    nsv470680CNV Loss18288195
    dgv29n71CNV Loss21882294
    dgv35n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601328    OMIM disorders: --

    4 diseases for SCNN1D:    About MalaCards
    liddle syndrome    cholera    melanoma    neuronitis


    SCNN1D for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SCNN1D
    Human Genome Epidemiology (HuGE) Navigator: SCNN1D (4 documents)

    Export disorders for SCNN1D gene to outside databases

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

    PubMed articles for SCNN1D gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with SCNN1D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Delta-subunit confers novel biophysical features to alpha beta gamma- human epithelial sodium channel (ENaC) via a physical interaction. (PubMed id 16423824)1, 2, 7 Ji H.L....Benos D.J. (2006)
    2. Protons activate the delta-subunit of the epithelial Na+ channel in humans. (PubMed id 14726523)1, 7, 9 Yamamura H....Shimada S. (2004)
    3. Characterization of a novel splice variant of d ENaC s ubunit in human lungs. (PubMed id 22505667)1, 2 Zhao R.Z....Ji H.L. (2012)
    4. Characterization of the epithelial sodium channel del ta-subunit in human nasal epithelium. (PubMed id 19520916)1, 2 Bangel-Ruland N....Weber W.M. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. Assignment of the human amiloride-sensitive Na+ channel delta isoform to chromosome 1p36.3-p36.2. (PubMed id 8661065)1, 3 Waldmann R....Mattei M. (1996)
    10. Molecular cloning and functional expression of a novel amiloride- sensitive Na+ channel. (PubMed id 7499195)1, 2 Waldmann R.... Lazdunski M. (1995)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6339 HGNC: 10601 AceView: SCNN1D Ensembl:ENSG00000162572 euGenes: HUgn6339
    ECgene: SCNN1D H-InvDB: SCNN1D

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SCNN1D Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SCNN1D Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SCNN1D gene:
    Search GeneIP for patents involving SCNN1D

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



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    About This Section

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