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P51170

- SCNNG_HUMAN

UniProt

P51170 - SCNNG_HUMAN

Protein

Amiloride-sensitive sodium channel subunit gamma

Gene

SCNN1G

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 4 (30 May 2006)
      Previous versions | rss
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    Functioni

    Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.1 Publication

    Enzyme regulationi

    Activated by WNK1, WNK2, WNK3 and WNK4.By similarity

    GO - Molecular functioni

    1. ligand-gated sodium channel activity Source: ProtInc
    2. protein binding Source: UniProtKB
    3. sodium channel activity Source: ProtInc
    4. WW domain binding Source: BHF-UCL

    GO - Biological processi

    1. excretion Source: ProtInc
    2. ion transmembrane transport Source: Reactome
    3. multicellular organismal water homeostasis Source: UniProtKB
    4. response to stimulus Source: UniProtKB-KW
    5. sensory perception of taste Source: UniProtKB-KW
    6. sodium ion homeostasis Source: UniProtKB
    7. sodium ion transmembrane transport Source: UniProtKB
    8. sodium ion transport Source: ProtInc
    9. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Ion channel, Sodium channel

    Keywords - Biological processi

    Ion transport, Sensory transduction, Sodium transport, Taste, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Protein family/group databases

    TCDBi1.A.6.1.1. the epithelial na(+) channel (enac) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Amiloride-sensitive sodium channel subunit gamma
    Alternative name(s):
    Epithelial Na(+) channel subunit gamma
    Short name:
    ENaCG
    Short name:
    Gamma-ENaC
    Gamma-NaCH
    Nonvoltage-gated sodium channel 1 subunit gamma
    SCNEG
    Gene namesi
    Name:SCNN1G
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:10602. SCNN1G.

    Subcellular locationi

    Apical cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Note: Apical membrane of epithelial cells.

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB-SubCell
    2. external side of plasma membrane Source: Ensembl
    3. extracellular vesicular exosome Source: UniProt
    4. integral component of plasma membrane Source: UniProtKB
    5. plasma membrane Source: Reactome
    6. sodium channel complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Bronchiectasis with or without elevated sweat chloride 3 (BESC3) [MIM:613071]: A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi177200. phenotype.
    613071. phenotype.
    Orphaneti171876. Generalized pseudohypoaldosteronism type 1.
    60033. Idiopathic bronchiectasis.
    526. Liddle syndrome.
    PharmGKBiPA307.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 649649Amiloride-sensitive sodium channel subunit gammaPRO_0000181276Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi209 – 2091N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi248 – 2481N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi271 – 2711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi291 – 2911N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi497 – 4971N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Phosphorylated on serine and threonine residues.By similarity
    Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation.By similarity
    ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation.2 Publications

    Keywords - PTMi

    Glycoprotein, Phosphoprotein, Ubl conjugation

    Proteomic databases

    PaxDbiP51170.
    PRIDEiP51170.

    PTM databases

    PhosphoSiteiP51170.

    Expressioni

    Tissue specificityi

    Expressed in kidney (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiP51170.
    BgeeiP51170.
    GenevestigatoriP51170.

    Interactioni

    Subunit structurei

    Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit. Interacts with the WW domains of NEDD4, NEDD4L, WWP1 and WWP2. Interacts with the full length immature form of PCSK9 (pro-PCSK9) By similarity.By similarity

    Protein-protein interaction databases

    BioGridi112244. 12 interactions.
    IntActiP51170. 1 interaction.
    MINTiMINT-198604.

    Structurei

    3D structure databases

    ProteinModelPortaliP51170.
    SMRiP51170. Positions 255-546.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5555CytoplasmicBy similarityAdd
    BLAST
    Topological domaini80 – 523444ExtracellularBy similarityAdd
    BLAST
    Topological domaini556 – 64994CytoplasmicBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei56 – 7924HelicalBy similarityAdd
    BLAST
    Transmembranei524 – 55532HelicalBy similarityAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG294559.
    HOVERGENiHBG058435.
    InParanoidiP51170.
    KOiK04827.
    OMAiNWMYCYY.
    OrthoDBiEOG7T1R9N.
    PhylomeDBiP51170.
    TreeFamiTF330663.

    Family and domain databases

    InterProiIPR004724. EnaC.
    IPR001873. Na+channel_ASC.
    IPR020903. Na+channel_ASC_CS.
    [Graphical view]
    PANTHERiPTHR11690. PTHR11690. 1 hit.
    PfamiPF00858. ASC. 1 hit.
    [Graphical view]
    PRINTSiPR01078. AMINACHANNEL.
    TIGRFAMsiTIGR00859. ENaC. 1 hit.
    PROSITEiPS01206. ASC. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P51170-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAPGEKIKAK IKKNLPVTGP QAPTIKELMR WYCLNTNTHG CRRIVVSRGR    50
    LRRLLWIGFT LTAVALILWQ CALLVFSFYT VSVSIKVHFR KLDFPAVTIC 100
    NINPYKYSTV RHLLADLEQE TREALKSLYG FPESRKRREA ESWNSVSEGK 150
    QPRFSHRIPL LIFDQDEKGK ARDFFTGRKR KVGGSIIHKA SNVMHIESKQ 200
    VVGFQLCSND TSDCATYTFS SGINAIQEWY KLHYMNIMAQ VPLEKKINMS 250
    YSAEELLVTC FFDGVSCDAR NFTLFHHPMH GNCYTFNNRE NETILSTSMG 300
    GSEYGLQVIL YINEEEYNPF LVSSTGAKVI IHRQDEYPFV EDVGTEIETA 350
    MVTSIGMHLT ESFKLSEPYS QCTEDGSDVP IRNIYNAAYS LQICLHSCFQ 400
    TKMVEKCGCA QYSQPLPPAA NYCNYQQHPN WMYCYYQLHR AFVQEELGCQ 450
    SVCKEACSFK EWTLTTSLAQ WPSVVSEKWL LPVLTWDQGR QVNKKLNKTD 500
    LAKLLIFYKD LNQRSIMESP ANSIEMLLSN FGGQLGLWMS CSVVCVIEII 550
    EVFFIDFFSI IARRQWQKAK EWWAWKQAPP CPEAPRSPQG QDNPALDIDD 600
    DLPTFNSALH LPPALGTQVP GTPPPKYNTL RLERAFSNQL TDTQMLDEL 649
    Length:649
    Mass (Da):74,270
    Last modified:May 30, 2006 - v4
    Checksum:iF67ED45F03A9BF3F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti339 – 3391F → S in CAA60633. (PubMed:7490094)Curated
    Sequence conflicti350 – 3501A → T in CAA60633. (PubMed:7490094)Curated
    Sequence conflicti369 – 3691Y → S in CAA60633. (PubMed:7490094)Curated
    Sequence conflicti375 – 3751D → G in CAA60633. (PubMed:7490094)Curated
    Sequence conflicti458 – 4581S → R in CAA60633. (PubMed:7490094)Curated
    Sequence conflicti461 – 4633EWT → DGH in AAC50758. (PubMed:8824247)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491G → C.1 Publication
    Corresponds to variant rs5733 [ dbSNP | Ensembl ].
    VAR_014893
    Natural varianti58 – 581G → R in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036483
    Natural varianti178 – 1781R → W.2 Publications
    VAR_015842
    Natural varianti183 – 1831G → S in a patient with bronchiectasis. 2 Publications
    Corresponds to variant rs5736 [ dbSNP | Ensembl ].
    VAR_014894
    Natural varianti197 – 1971E → K in a patient with bronchiectasis. 1 Publication
    Corresponds to variant rs5738 [ dbSNP | Ensembl ].
    VAR_034485
    Natural varianti502 – 5021A → P.4 Publications
    VAR_015843
    Natural varianti614 – 6141A → S.2 Publications
    VAR_015844

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X87160 mRNA. Translation: CAA60633.1.
    L36592 mRNA. Translation: AAA75460.1.
    AF356502
    , AF356493, AF356494, AF356495, AF356496, AF356497, AF356498, AF356499, AF356500, AF356501 Genomic DNA. Translation: AAK50910.1.
    BC059391 mRNA. Translation: AAH59391.1.
    BC069652 mRNA. Translation: AAH69652.1.
    U48936 mRNA. Translation: AAC50737.1.
    U53836 Genomic DNA. Translation: AAC50744.1.
    U53837 Genomic DNA. Translation: AAC50745.1.
    U53841 Genomic DNA. Translation: AAC50749.1.
    U53844 Genomic DNA. Translation: AAC50752.1.
    U53845 Genomic DNA. Translation: AAC50753.1.
    U53846 Genomic DNA. Translation: AAC50754.1.
    U53847 Genomic DNA. Translation: AAC50755.1.
    U53850 Genomic DNA. Translation: AAC50758.1.
    U53852 Genomic DNA. Translation: AAC50760.1.
    U35630 Genomic DNA. Translation: AAC50217.1.
    CCDSiCCDS10608.1.
    PIRiI38204.
    I64847.
    RefSeqiNP_001030.2. NM_001039.3.
    UniGeneiHs.371727.

    Genome annotation databases

    EnsembliENST00000300061; ENSP00000300061; ENSG00000166828.
    GeneIDi6340.
    KEGGihsa:6340.
    UCSCiuc002dlm.1. human.

    Polymorphism databases

    DMDMi108885072.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X87160 mRNA. Translation: CAA60633.1 .
    L36592 mRNA. Translation: AAA75460.1 .
    AF356502
    , AF356493 , AF356494 , AF356495 , AF356496 , AF356497 , AF356498 , AF356499 , AF356500 , AF356501 Genomic DNA. Translation: AAK50910.1 .
    BC059391 mRNA. Translation: AAH59391.1 .
    BC069652 mRNA. Translation: AAH69652.1 .
    U48936 mRNA. Translation: AAC50737.1 .
    U53836 Genomic DNA. Translation: AAC50744.1 .
    U53837 Genomic DNA. Translation: AAC50745.1 .
    U53841 Genomic DNA. Translation: AAC50749.1 .
    U53844 Genomic DNA. Translation: AAC50752.1 .
    U53845 Genomic DNA. Translation: AAC50753.1 .
    U53846 Genomic DNA. Translation: AAC50754.1 .
    U53847 Genomic DNA. Translation: AAC50755.1 .
    U53850 Genomic DNA. Translation: AAC50758.1 .
    U53852 Genomic DNA. Translation: AAC50760.1 .
    U35630 Genomic DNA. Translation: AAC50217.1 .
    CCDSi CCDS10608.1.
    PIRi I38204.
    I64847.
    RefSeqi NP_001030.2. NM_001039.3.
    UniGenei Hs.371727.

    3D structure databases

    ProteinModelPortali P51170.
    SMRi P51170. Positions 255-546.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112244. 12 interactions.
    IntActi P51170. 1 interaction.
    MINTi MINT-198604.

    Chemistry

    ChEMBLi CHEMBL2107836.
    DrugBanki DB00594. Amiloride.
    DB00384. Triamterene.

    Protein family/group databases

    TCDBi 1.A.6.1.1. the epithelial na(+) channel (enac) family.

    PTM databases

    PhosphoSitei P51170.

    Polymorphism databases

    DMDMi 108885072.

    Proteomic databases

    PaxDbi P51170.
    PRIDEi P51170.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000300061 ; ENSP00000300061 ; ENSG00000166828 .
    GeneIDi 6340.
    KEGGi hsa:6340.
    UCSCi uc002dlm.1. human.

    Organism-specific databases

    CTDi 6340.
    GeneCardsi GC16P023101.
    HGNCi HGNC:10602. SCNN1G.
    MIMi 177200. phenotype.
    600761. gene.
    613071. phenotype.
    neXtProti NX_P51170.
    Orphaneti 171876. Generalized pseudohypoaldosteronism type 1.
    60033. Idiopathic bronchiectasis.
    526. Liddle syndrome.
    PharmGKBi PA307.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG294559.
    HOVERGENi HBG058435.
    InParanoidi P51170.
    KOi K04827.
    OMAi NWMYCYY.
    OrthoDBi EOG7T1R9N.
    PhylomeDBi P51170.
    TreeFami TF330663.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GeneWikii SCNN1G.
    GenomeRNAii 6340.
    NextBioi 24620.
    PROi P51170.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51170.
    Bgeei P51170.
    Genevestigatori P51170.

    Family and domain databases

    InterProi IPR004724. EnaC.
    IPR001873. Na+channel_ASC.
    IPR020903. Na+channel_ASC_CS.
    [Graphical view ]
    PANTHERi PTHR11690. PTHR11690. 1 hit.
    Pfami PF00858. ASC. 1 hit.
    [Graphical view ]
    PRINTSi PR01078. AMINACHANNEL.
    TIGRFAMsi TIGR00859. ENaC. 1 hit.
    PROSITEi PS01206. ASC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel."
      Voilley N., Bassilana F., Mignon C., Merscher S., Mattei M.-G., Carle G.F., Lazdunski M., Barbry P.
      Genomics 28:560-565(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Lung.
    2. "Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel."
      McDonald F.J., Snyder P.M., Price M.P., Welsh M.J.
      Am. J. Physiol. 268:C1157-C1163(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS TRP-178; PRO-502 AND SER-614.
      Tissue: Kidney.
    3. "Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes."
      Saxena A., Hanukoglu I., Saxena D., Thompson R.J., Gardiner R.M., Hanukoglu A.
      J. Clin. Endocrinol. Metab. 87:3344-3350(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-502.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    5. "Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel."
      Thomas C.P., Doggett N.A., Fisher R., Stokes J.B.
      J. Biol. Chem. 271:26062-26066(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 1-105; 218-269; 306-392; 433-463 AND 499-515, VARIANT PRO-502.
    6. "Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome."
      Hansson J.H., Nelson-Williams C., Suzuki H., Schild L., Shimkets R.A., Lu Y., Canessa C.M., Iwasaki T., Rossier B.C., Lifton R.P.
      Nat. Genet. 11:76-82(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 524-649, INVOLVEMENT IN LIDDS.
    7. "Identification of novel human WW domain-containing proteins by cloning of ligand targets."
      Pirozzi G., McConnell S.J., Uveges A.J., Carter J.M., Sparks A.B., Kay B.K., Fowlkes D.M.
      J. Biol. Chem. 272:14611-14616(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH WWP1 AND WWP2.
    8. "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel."
      Harvey K.F., Dinudom A., Cook D.I., Kumar S.
      J. Biol. Chem. 276:8597-8601(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NEDD4 AND NEDD4L.
    9. "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel."
      McDonald F.J., Western A.H., McNeil J.D., Thomas B.C., Olson D.R., Snyder P.M.
      Am. J. Physiol. 283:F431-F436(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NEDD4 AND WWP2.
    10. "Proteolytic processing of the epithelial sodium channel gamma subunit has a dominant role in channel activation."
      Carattino M.D., Hughey R.P., Kleyman T.R.
      J. Biol. Chem. 283:25290-25295(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEOLYTIC PROCESSING.
    11. "Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants."
      Mutesa L., Azad A.K., Verhaeghe C., Segers K., Vanbellinghen J.F., Ngendahayo L., Rusingiza E.K., Mutwa P.R., Rulisa S., Koulischer L., Cassiman J.J., Cuppens H., Bours V.
      Chest 135:1233-1242(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN BESC3.
    12. "Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways."
      Enuka Y., Hanukoglu I., Edelheit O., Vaknine H., Hanukoglu A.
      Histochem. Cell Biol. 137:339-353(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    13. "Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9)."
      Sharotri V., Collier D.M., Olson D.R., Zhou R., Snyder P.M.
      J. Biol. Chem. 287:19266-19274(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PCSK9.
    14. "Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures."
      Hobbs C.A., Blanchard M.G., Alijevic O., Tan C.D., Kellenberger S., Bencharit S., Cao R., Kesimer M., Walton W.G., Henderson A.G., Redinbo M.R., Stutts M.J., Tarran R.
      Am. J. Physiol. 305:L990-L1001(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEOLYTIC PROCESSING, FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.
    15. "ENaC modulators and renal disease."
      Alvarez de la Rosa D., Navarro-Gonzalez J.F., Giraldez T.
      Curr. Mol. Pharmacol. 6:35-43(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    16. "Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?"
      Arai K., Zachman K., Shibasaki T., Chrousos G.P.
      J. Clin. Endocrinol. Metab. 84:2434-2437(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TRP-178; PRO-502 AND SER-614.
    17. "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis."
      Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A., Cooper R., Lipshutz R., Chakravarti A.
      Nat. Genet. 22:239-247(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CYS-49 AND SER-183.
    18. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-58.
    19. "Could a defective epithelial sodium channel lead to bronchiectasis."
      Fajac I., Viel M., Sublemontier S., Hubert D., Bienvenu T.
      Respir. Res. 9:46-46(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SER-183 AND LYS-197, INVOLVEMENT IN BESC3.

    Entry informationi

    Entry nameiSCNNG_HUMAN
    AccessioniPrimary (citable) accession number: P51170
    Secondary accession number(s): P78437
    , Q6PCC2, Q93023, Q93024, Q93025, Q93026, Q93027, Q96TD2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: May 30, 2006
    Last modified: October 1, 2014
    This is version 145 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3