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

SCNN1B Gene

protein-coding   GIFtS: 66
GCID: GC16P023221

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

(Previous names: sodium channel, nonvoltage-gated 1, beta, sodium channel,...)
 Explore 25 diseases affiliated with
SCNN1B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SCNN1B    

Aliases
for SCNN1B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sodium Channel, Non-Voltage-Gated 1, Beta Subunit1 2     Amiloride-Sensitive Sodium Channel Subunit Beta 12
ENaCbeta1 2     Beta-ENaC3
Sodium Channel, Nonvoltage-Gated 1, Beta1 2     Beta-NaCH3
Epithelial Na(+) Channel Subunit Beta2 3     Epithelial Sodium Channel Beta-2 Subunit2
Nonvoltage-Gated Sodium Channel 1 Subunit Beta2 3     Epithelial Sodium Channel Beta-3 Subunit2
SCNEB2 3     Nasal Epithelial Sodium Channel Beta Subunit2
BESC12 5     Beta-ENaC3
Sodium Channel, Non-Voltage-Gated 1, Beta1     Beta-NaCH3
ENaCb2     ENaCB3
Amiloride-Sensitive Sodium Channel Subunit Beta2     

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


Summaries
for SCNN1B gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SCNN1B:
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)

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


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

Proteins
for SCNN1B gene

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

Post-translational modifications:

  • Phosphorylated on serine and threonine residues (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51168

    • SCNN1B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000327.2  
    ENSEMBL proteins: 
     ENSP00000345751   ENSP00000302874   ENSP00000457754   ENSP00000455673   ENSP00000456309  
    Reactome Protein details: P51168
    Human Recombinant Protein Products: 
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    Novus Biologicals SCNN1B Protein
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    Browse Proteins at Uscn

    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:0005624membrane fraction ----
    GO:0009897external side of plasma membrane IEA--
    GO:0009986cell surface ----
    GO:0016021integral to membrane ----
    GO:0016324apical plasma membrane IEA--


    SCNN1B for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SCNN1B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SCNN1B 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 P51168

    ProtoNet protein and cluster: P51168

    1 Blocks protein family: IPB001873 Na+ channel

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


    Function
    for SCNN1B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SCNN1B:
    hsa-miR-634
    SwitchGear 3'UTR luciferase reporter plasmid: SCNN1B 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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 IPI--
    GO:0015280ligand-gated sodium channel activity IEA--
    GO:0050699WW domain binding IPI10642508


    SCNN1B for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for SCNN1B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

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

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

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for 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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia ----
    GO:0002028regulation of sodium ion transport ----
    GO:0006814sodium ion transport TAS8521520
    GO:0007588excretion TAS9118951
    GO:0035313wound healing, spreading of epidermal cells ----


    SCNN1B for ontologies           About GeneDecksing



    Drugs & Compounds
    for SCNN1B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SCNN1B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SCNN1B

    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 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 

    Transcripts
    for SCNN1B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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


    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: SCNN1B
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    Clone
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    Additional cDNA 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):

    BI789210 BU734247 BM709881 CD013909 CA502934 BM762513 BP334879 BU608122 
    BM760593 BC036352 AI871637 BE467635 AI807318 BX101884 CD013910 AU105979 
    CK903309 BI763841 CD013908 CK903310 AI697904 BG548640 BP358734 AW376637 

    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

    Expression
    for SCNN1B gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SCNN1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGTTTTCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SCNN1B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemCollecting Duct CellsKidney
    KidneyRenal Collecting Duct SystemCollecting Duct CellsKidney
    KidneyEpithelial TubuleKidney
    KidneyMetanephrosKidney
    KidneyRenal Collecting Duct SystemKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Alveolar type II cells (Derivation of mature...)Lung

    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

    Primer
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    In Situ
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    Orthologs
    for SCNN1B gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SCNN1B gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves 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
    		 --
    		 58(a)
    		 1 ↔ 1
    		 GL344322.1(22776-42546)
    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
    for SCNN1B gene

    (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



    Genomic Variants
    for SCNN1B gene

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

    10/1742 NCBI SNPs in SCNN1B are shown (see all 1742)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs357311531,2
    		C,F,pathogenic23360165(+) CGTCTC/GCCTCT 2 S C mis16Minor allele frequency- G:0.01NS NA EU 7065
    rs726543381,2
    		Cpathogenic23379280(+) AATTCG/AGTGAG 2 /S /G mis12Minor allele frequency- A:0.00NS NA 5642
    rs1378527051,2
    		Cprobable-pathogenic23392052(+) GCCCCC/G/TCAACT 3 P R L mis10--------
    rs113999111,2
    		C,--21465260(+) AGAAA-/GAAAGA 1 -- int1 trp30--------
    rs124453911,2
    		A,H--21477131(+) ttcctC/Tcctcc 1 -- int1 trp30--------
    rs1465145571,2
    		--23311682(+) GACTG-/AAAAAA 1 -- us2k10--------
    rs1456870351,2
    		--23312025(+) GAAGCA/CGTGGC 1 -- us2k10--------
    rs1465655511,2
    		--23312289(+) AAACAA/TAATAA 1 -- us2k10--------
    rs1922918141,2
    		--23312411(+) TGGGCA/TTGGTG 1 -- us2k10--------
    rs1839142001,2
    		--23312416(+) ATGGTG/TGCTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SCNN1B (23289552 - 23392620 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SCNN1B: --
    Human Gene Mutation Database (HGMD): SCNN1B

    Locus Specific Mutation Databases (LSDB): SCNN1B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SCNN1B
    DNA2.0 Custom Variant and Variant Library Synthesis for SCNN1B

    Disorders / Diseases
    for SCNN1B gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SCNN1B for disorders           About GeneDecksing

    OMIM gene information: 600760   
    OMIM disorders: 177200  264350  211400  
    UniProtKB/Swiss-Prot: SCNNB_HUMAN, P51168
  • Defects in SCNN1B are a cause of 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 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)
  • Defects in SCNN1B are a cause of Liddle syndrome (LIDDS) [MIM:177200]. It is an autosomal dominant disorder
    • characterized by pseudoaldosteronism and hypertension associated with hypokalemic alkalosis. The disease is caused by
    constitutive activation of the renal epithelial sodium channel
  • Defects in SCNN1B are the cause of bronchiectasis with or without elevated sweat chloride type 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

    20/25 diseases for SCNN1B (see all 25):    About MalaCards
    liddle syndrome    pseudohypoaldosteronism    bronchiectasis with or without elevated sweat chloride 1    autosomal recessive pseudohypoaldosteronism type 1
    pseudohypoaldosteronism type i    common variable immunodeficiency    pre-eclampsia    ciliary dyskinesia
    clear cell renal cell carcinoma    delayed puberty    bronchiectasis    renal cell carcinoma
    ulcerative colitis    essential hypertension    cystic fibrosis    eclampsia
    aldosteronism    sinusitis    fibrosis    hypertension

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

    2 Novoseek 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

    Publications
    for SCNN1B gene

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

    PubMed articles for SCNN1B gene, integrated from 9 sources (see all 149):
    (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. 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)
    3. Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit. (PubMed id 9813171)1, 2, 9 Saxena A.... Hanukoglu A. (1998)
    4. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. (PubMed id 19017867)1, 2, 9 Mutesa L.... Bours V. (2009)
    5. Could a defective epithelial sodium channel lead to bronchiectasis. (PubMed id 18507830)1, 2 Fajac I....Bienvenu T. (2008)
    6. Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension. (PubMed id 15661075)1, 4 Hannila-Handelberg T....Hiltunen T.P. (2005)
    7. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. (PubMed id 15853823)1, 2 Edelheit O.... Hanukoglu A. (2005)
    8. Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit. (PubMed id 15483078)1, 2 Furuhashi M.... Shimamoto K. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. T594M mutation of the epithelial sodium channel beta-subunit gene in pre-eclampsia and eclampsia in Black South African women. (PubMed id 15327619)1, 4 Pegoraro R.J....Moodley J. (2004)

    External Searches for SCNN1B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SCNN1B gene

    (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

    Other Databases showing SCNN1B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SCNN1B gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SCNN1B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCNN1B

    Intellectual Property
    for SCNN1B gene

    (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:
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