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

SCNN1B Gene

protein-coding   GIFtS: 68
GCID: GC16P023221

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

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

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

Aliases
Sodium Channel, Non-Voltage-Gated 1, Beta Subunit1 2     Amiloride-Sensitive Sodium Channel Subunit Beta2
Sodium Channel, Nonvoltage-Gated 1, Beta1 2     Amiloride-Sensitive Sodium Channel Subunit Beta 12
Epithelial Na(+) Channel Subunit Beta2 3     beta-ENaC2
Nonvoltage-Gated Sodium Channel 1 Subunit Beta2 3     beta-NaCH2
SCNEB2 3     Epithelial Sodium Channel Beta-2 Subunit2
BESC12 5     Epithelial Sodium Channel Beta-3 Subunit2
Liddle Syndrome1     Nasal Epithelial Sodium Channel Beta Subunit2
Sodium Channel, Non-Voltage-Gated 1, Beta1     Beta-ENaC3
ENaCb2     Beta-NaCH3
ENaCbeta2     ENaCB3

External Ids:    HGNC: 106001   Entrez Gene: 63382   Ensembl: ENSG000001684477   OMIM: 6007605   UniProtKB: P511683   

Export aliases for SCNN1B gene to outside databases

Previous GC identifers: GC16P022722 GC16P023401 GC16P023241 GC16P023280 GC16P021402


(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 SCNN1B 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 beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1
(PHA1), and Liddle syndrome. (provided by RefSeq, Apr 2009)

GeneCards Summary for SCNN1B Gene: 
SCNN1B (sodium channel, non-voltage-gated 1, beta subunit) is a protein-coding gene. Diseases associated with SCNN1B include liddle syndrome, and non-classic cystic fibrosis-like syndrome, and among its related super-pathways are Activation of cAMP-Dependent PKA and Aldosterone Signaling in Epithelial Cells. GO annotations related to this gene include WW domain binding and ligand-gated sodium channel activity. An important paralog of this gene is ASIC3.

UniProtKB/Swiss-Prot: SCNNB_HUMAN, P51168
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 SCNN1B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SCNN1B gene promoter:
         Egr-3   ISGF-3   p53   Sp1   IRF-1   AP-2gamma   Egr-4   AREB6   AP-2beta   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SCNN1B promoter sequence
   Search SABiosciences Chromatin IP Primers for SCNN1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCNN1B


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

Entrez Gene cytogenetic band: 16p12.2-p12.1   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p12.2-p12.1

SCNN1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCNN1B gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P023221:  view genomic region     (about GC identifiers)

Start:
23,289,552 bp from pter      End:
23,392,620 bp from pter
Size:
103,069 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: SCNNB_HUMAN, P51168 (See protein sequence)
Recommended Name: Amiloride-sensitive sodium channel subunit beta  
Size: 640 amino acids; 72659 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)
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Note=Apical membrane of epithelial cells
Secondary accessions: C5HTZ2 O60891 Q96KG2 Q9UJ32 Q9UMU5
Alternative splicing: 2 isoforms:  P51168-1   P51168-2   

Explore the universe of human proteins at neXtProt for SCNN1B: NX_P51168

Explore proteomics data for SCNN1B at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on serine and threonine residues (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51168

  • SCNN1B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SCNN1B Protein Expression
    REFSEQ proteins: NP_000327.2  
    ENSEMBL proteins: 
     ENSP00000345751   ENSP00000302874   ENSP00000457754   ENSP00000455673   ENSP00000456309  
    Reactome Protein details: P51168
    Human Recombinant Protein Products for SCNN1B: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane ----
    GO:0016324apical plasma membrane IEA--

    SCNN1B 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 &beta 
    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 P51168

    ProtoNet protein and cluster: P51168

    1 Blocks protein domain: IPB001873 Na+ channel

    UniProtKB/Swiss-Prot: SCNNB_HUMAN, P51168
    Similarity: Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily


    SCNN1B 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: SCNNB_HUMAN, P51168
    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 SCNN1B:
    epithelial amiloride-sensitive sodium channel,non-voltage gated in the luminal membrane of the collecting tubule
    of kidney,subunit beta,regulating blood volume and pressure

         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 ----
    GO:0005515protein binding IPI11244092
    GO:0015280ligand-gated sodium channel activity IEA--
    GO:0050699WW domain binding IPI10642508
         
    SCNN1B for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Scnn1b):
     cardiovascular system  digestive/alimentary  growth/size  homeostasis/metabolism  mortality/aging 
     normal  renal/urinary system  respiratory system 

    SCNN1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SCNN1B: Scnn1btm1Wsh Scnn1btm1.1Ipt Scnn1btm1.2Hum Scnn1btm1Ipt

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SCNN1B 
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    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 SCNN1B About   (see all 11)                                                                                              See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SCNN1B
        Sodium channels and transporters- inward current

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SCNN1B (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 SCNN1B
        CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    NO-dependent CFTR activation (normal and CF)

    3        Reactome Pathways for SCNN1B
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport

    1 PharmGKB Pathway for SCNN1B
        Diuretics Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for SCNN1B):
        Taste transduction
    Aldosterone-regulated sodium reabsorption


    SCNN1B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SCNN1B

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

    5/22 Interacting proteins for SCNN1B (P511682, 3 ENSP000003457514) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEDD4P469342, 3, ENSP000003455304MINT-8290100 MINT-8290472 MINT-8292637 MINT-8290582 MINT-14340 I2D: score=3 STRING: ENSP00000345530
    NEDD4LQ96PU52, 3, ENSP000003831994MINT-8290136 I2D: score=3 STRING: ENSP00000383199
    WWP2O003083, ENSP000003482834I2D: score=2 STRING: ENSP00000348283
    AP1M2Q9Y6Q53, ENSP000002502444I2D: score=1 STRING: ENSP00000250244
    CNTN1Q128603, ENSP000003256604I2D: score=1 STRING: ENSP00000325660
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006814sodium ion transport TAS8521520
    GO:0007588excretion TAS9118951
    GO:0034220ion transmembrane transport TAS--
    GO:0035725sodium ion transmembrane transport ----
    GO:0050896response to stimulus IEA--

    SCNN1B 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

    SCNN1B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SCNN1B (SCNNB)

    2 HMDB Compounds for SCNN1B    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 SCNN1B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmilorideAmilorida [INN-Spanish] (see all 6)2016-88-8targetinhibitor12746257 15198480 15681398 12396248 11882592
    Triamterene-- 396-01-0targetinhibitor17139284 8772124 17016423 11509829

    2 Novoseek inferred chemical compound relationships for SCNN1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 70.4 29 9350583 (2), 15690192 (1), 16943574 (1), 8640238 (1) (see all 14)
    amiloride 56.1 1 8640238 (1)

    Search CenterWatch for drugs/clinical trials and news about SCNN1B / SCNNB

    (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 SCNN1B gene: 
    NM_000336.2  

    Unigene Cluster for SCNN1B:

    Sodium channel, non-voltage-gated 1, beta subunit
    Hs.414614  [show with all ESTs]
    Unigene Representative Sequence: BC036352
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000569789 ENST00000343070(uc002dln.3) ENST00000307331 ENST00000564275
    ENST00000568085 ENST00000568923 ENST00000566870 ENST00000566441 ENST00000566647

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    Additional mRNA sequence: 

    AF260226.1 AK313192.1 BC036352.1 DQ402523.1 L36593.1 X87159.1 

    4 DOTS entries:

    DT.107061  DT.97827287  DT.101982298  DT.91645097 

    24/78 AceView cDNA sequences (see all 78):

    AI807318 AU105979 BX101884 BE467635 BI789210 AI697904 CD013908 BM709881 
    CA502934 BU734247 BM762513 CD013909 BM760593 AI871637 BC036352 BP334879 
    BU608122 BI763841 CK903309 CK903310 CD013910 AW206111 BM841616 AI242292 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SCNN1B (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for SCNN1B

    (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

    SCNN1B expression in normal human tissues (normalized intensities)      SCNN1B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTTTTCTC
    SCNN1B Expression
    About this image


    SCNN1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)    fully expand to see all 8 entries
             Collecting Duct Cells Renal Collecting Duct System
             Metanephros
             visceral organ/mesonephros/nephric duct, mesonephric portion   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Oral Cavity (Gastrointestinal Tract)
             mouth   
     
     Lung (Respiratory System)

    See SCNN1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SCNN1B

    SOURCE GeneReport for Unigene cluster: Hs.414614
        SABiosciences Expression via Pathway-Focused PCR Array including SCNN1B: 
              Hypertension in human mouse rat

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    (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 SCNN1B gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scnn1b1 , 5 sodium channel, nonvoltage-gated 1 beta1, 5 84.06(n)1
    84.17(a)1
      7 (65.07 cM)5
    202771  NM_011325.11  NP_035455.11 
     1218651115 
    chicken
    (Gallus gallus)
    Aves SCNN1B1 sodium channel, nonvoltage-gated 1, beta 71.16(n)
    66.83(a)
      427673  XM_425247.3  XP_425247.3 
    lizard
    (Anolis carolinensis)
    Reptilia SCNN1B6
    Uncharacterized protein
    58(a)
    1 ↔ 1
    GL344322.1(18855-42805)
    African clawed frog
    (Xenopus laevis)
    Amphibia scnn1b-A-prov2 epithelial sodium channel, nonvoltage-gated 1, beta 73.64(n)    U25285.1 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1053
    unc-81
    Amiloride-sensitive sodium channel3
    Protein UNC-81
    29(a)
    (best of 7)3
    41.97(n)1
    32.32(a)1
      II(8117189-8122268)3
    1774941  NM_068737.11  NP_501138.11 


    ENSEMBL Gene Tree for SCNN1B (if available)
    TreeFam Gene Tree for SCNN1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SCNN1B gene
    ASIC32  SCNN1G2  SCNN1A2  ASIC42  SCNN1D2  ASIC22  ASIC52  ASIC12  
    3 SIMAP similar genes for SCNN1B using alignment to 7 protein entries:     SCNNB_HUMAN (see all proteins):
    SCNN1G    SCNN1A    SCNN1D

    SCNN1B 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

    10/2132 SNPs in SCNN1B are shown (see all 2132)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0624064
    Bronchiectasis with or without elevated sweat chloride 1 (BESC1)4--see VAR_0624062 P T mis40--------
    VAR_0364814
    A breast cancer sample4--see VAR_0364812 A V mis40--------
    VAR_0364824
    A breast cancer sample4--see VAR_0364822 L V mis40--------
    VAR_0071284
    Liddle syndrome (LIDDS)4--see VAR_0071282 P L mis40--------
    VAR_0265224
    Liddle syndrome (LIDDS)4--see VAR_0265222 Y H mis40--------
    VAR_0624024
    Bronchiectasis with or without elevated sweat chloride 1 (BESC1)4--see VAR_0624022 P L mis40--------
    VAR_0624074
    Bronchiectasis with or without elevated sweat chloride 1 (BESC1)4--see VAR_0624072 E K mis40--------
    VAR_0624054
    Bronchiectasis with or without elevated sweat chloride 1 (BESC1)4--see VAR_0624052 V M mis40--------
    VAR_0071294
    Liddle syndrome (LIDDS)4--see VAR_0071292 P S mis40--------
    VAR_0265204
    Liddle syndrome (LIDDS)4--see VAR_0265202 P S mis40--------

    HapMap Linkage Disequilibrium report for SCNN1B (23289552 - 23392620 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SCNN1B:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2714088CNV Deletion23290073
    esv2714089CNV Deletion23290073
    esv2600690CNV Deletion19546169
    esv2714087CNV Deletion23290073


    Human Gene Mutation Database (HGMD): SCNN1B

    Locus Specific Mutation Databases (LSDB): SCNN1B
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600760   
    OMIM disorders: 177200  264350  211400  
    UniProtKB/Swiss-Prot: SCNNB_HUMAN, P51168
  • Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]: A rare salt wasting disease
    resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple
    organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration,
    hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. Note=The disease is caused by
    mutations affecting the gene represented in this entry. The degree of channel function impairment differentially
    affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype
    relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and
    age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with
    missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results
    in impaired linear growth and delayed puberty (PubMed:18634878)
  • 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 1 (BESC1) [MIM:211400]: A debilitating respiratory
    disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in
    the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common
    variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function,
    sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in
    some cases. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/26 diseases for SCNN1B (see all 26):    About MalaCards
    liddle syndrome    non-classic cystic fibrosis-like syndrome    liddle syndrome, scnn1b-related    pseudohypoaldosteronism
    pseudohypoaldosteronism type 1    bronchiectasis with or without elevated sweat chloride 1    autosomal recessive pseudohypoaldosteronism type 1    bronchiectasis
    clear cell renal cell carcinoma    common variable immunodeficiency    metabolic acidosis    eclampsia
    pre-eclampsia    essential hypertension    renal cell carcinoma    sinusitis
    hyperparathyroidism    cystic fibrosis    hypertension    ulcerative colitis

    2 diseases from the University of Copenhagen DISEASES database for SCNN1B:
    Hypertension     Kidney disease

    SCNN1B for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SCNN1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    liddles syndrome 94 8 16943574 (2), 19344079 (2), 20064610 (1), 15198480 (1) (see all 6)
    pseudohypoaldosteronism 88.8 1 20064610 (1)

    Genetic Association Database (GAD): SCNN1B
    Human Genome Epidemiology (HuGE) Navigator: SCNN1B (25 documents)

    Export disorders for SCNN1B 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 SCNN1B gene, integrated from 9 sources (see all 154):
    (articles sorted by number of sources associating them with SCNN1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives. (PubMed id 15198480)1, 4, 7, 9 Kamide K....Miyata T. (2004)
    2. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. (PubMed id 19017867)1, 2, 4, 9 Mutesa L.... Bours V. (2009)
    3. A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension. (PubMed id 12714866)1, 2, 4 Rayner B.L.... Davidson J.S. (2003)
    4. Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit. (PubMed id 9813171)1, 2, 9 Saxena A.... Hanukoglu A. (1998)
    5. A polymorphic GT short tandem repeat affecting beta-ENaC mRNA expression is associated with low renin essential hypertension. (PubMed id 17586416)1, 4, 9 Gonzalez A.A....Fardella C.E. (2007)
    6. Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. (PubMed id 18443236)1, 4, 9 Tobin M.D....Samani N.J. (2008)
    7. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)
    8. 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)
    9. Integrative predictive model of coronary artery calci fication in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (2009)
    10. Plasma potassium level is associated with common genetic variation in the {beta}-subunit of the epithelial sodium channel. (PubMed id 18184758)1, 4 Gaukrodger N....Keavney B. (2008)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6338 HGNC: 10600 AceView: SCNN1B Ensembl:ENSG00000168447 euGenes: HUgn6338
    ECgene: SCNN1B Kegg: 6338 H-InvDB: SCNN1B

    (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 SCNN1B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCNN1B

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SCNN1B gene:
    Search GeneIP for patents involving SCNN1B

    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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