LOCUS       NM_001039               3477 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens sodium channel epithelial 1 subunit gamma (SCNN1G),
            mRNA.
ACCESSION   NM_001039
VERSION     NM_001039.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3477)
  AUTHORS   Yang,Y., Zhong,X., Lan,Y., Liang,P., Huang,Y., Wang,Y., Zhou,X.,
            Zhang,Z., Liang,Y. and Xiao,X.
  TITLE     Aberrant inactivation of SCNN1G promotes the motility of head and
            neck squamous cell carcinoma
  JOURNAL   Pathol Res Pract 240, 154175 (2022)
   PUBMED   36327816
  REMARK    GeneRIF: Aberrant inactivation of SCNN1G promotes the motility of
            head and neck squamous cell carcinoma.
REFERENCE   2  (bases 1 to 3477)
  AUTHORS   Hayakawa,T., Fukuhara,A., Saiki,A., Otsuki,M. and Shimomura,I.
  TITLE     gammaENaC/CD9 in urinary extracellular vesicles as a potential
            biomarker of MR activity
  JOURNAL   J Endocrinol 252 (2), 81-90 (2021)
   PUBMED   34755678
  REMARK    GeneRIF: gammaENaC/CD9 in urinary extracellular vesicles as a
            potential biomarker of MR activity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3477)
  AUTHORS   Pierandrei,S., Truglio,G., Ceci,F., Del Porto,P., Bruno,S.M.,
            Castellani,S., Conese,M., Ascenzioni,F. and Lucarelli,M.
  TITLE     DNA Methylation Patterns Correlate with the Expression of SCNN1A,
            SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes
  JOURNAL   Int J Mol Sci 22 (7), 3754 (2021)
   PUBMED   33916525
  REMARK    GeneRIF: DNA Methylation Patterns Correlate with the Expression of
            SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3477)
  AUTHORS   Noreng,S., Posert,R., Bharadwaj,A., Houser,A. and Baconguis,I.
  TITLE     Molecular principles of assembly, activation, and inhibition in
            epithelial sodium channel
  JOURNAL   Elife 9, e59038 (2020)
   PUBMED   32729833
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3477)
  AUTHORS   Azad,A.K., Rauh,R., Vermeulen,F., Jaspers,M., Korbmacher,J.,
            Boissier,B., Bassinet,L., Fichou,Y., des Georges,M., Stanke,F., De
            Boeck,K., Dupont,L., Balascakova,M., Hjelte,L., Lebecque,P.,
            Radojkovic,D., Castellani,C., Schwartz,M., Stuhrmann,M.,
            Schwarz,M., Skalicka,V., de Monestrol,I., Girodon,E., Ferec,C.,
            Claustres,M., Tummler,B., Cassiman,J.J., Korbmacher,C. and
            Cuppens,H.
  TITLE     Mutations in the amiloride-sensitive epithelial sodium channel in
            patients with cystic fibrosis-like disease
  JOURNAL   Hum Mutat 30 (7), 1093-1103 (2009)
   PUBMED   19462466
REFERENCE   6  (bases 1 to 3477)
  AUTHORS   Saxena,A., Hanukoglu,I., Saxena,D., Thompson,R.J., Gardiner,R.M.
            and Hanukoglu,A.
  TITLE     Novel mutations responsible for autosomal recessive multisystem
            pseudohypoaldosteronism and sequence variants in epithelial sodium
            channel alpha-, beta-, and gamma-subunit genes
  JOURNAL   J Clin Endocrinol Metab 87 (7), 3344-3350 (2002)
   PUBMED   12107247
  REMARK    GeneRIF: Novel mutations responsible for autosomal recessive
            multisystem pseudohypoaldosteronism and sequence variants in
            epithelial sodium channel gamma-subunit gene.
REFERENCE   7  (bases 1 to 3477)
  AUTHORS   Waldmann,R., Champigny,G., Bassilana,F., Voilley,N. and
            Lazdunski,M.
  TITLE     Molecular cloning and functional expression of a novel
            amiloride-sensitive Na+ channel
  JOURNAL   J Biol Chem 270 (46), 27411-27414 (1995)
   PUBMED   7499195
REFERENCE   8  (bases 1 to 3477)
  AUTHORS   Hansson,J.H., Nelson-Williams,C., Suzuki,H., Schild,L.,
            Shimkets,R., Lu,Y., Canessa,C., Iwasaki,T., Rossier,B. and
            Lifton,R.P.
  TITLE     Hypertension caused by a truncated epithelial sodium channel gamma
            subunit: genetic heterogeneity of Liddle syndrome
  JOURNAL   Nat Genet 11 (1), 76-82 (1995)
   PUBMED   7550319
REFERENCE   9  (bases 1 to 3477)
  AUTHORS   Voilley,N., Bassilana,F., Mignon,C., Merscher,S., Mattei,M.G.,
            Carle,G.F., Lazdunski,M. and Barbry,P.
  TITLE     Cloning, chromosomal localization, and physical linkage of the beta
            and gamma subunits (SCNN1B and SCNN1G) of the human epithelial
            amiloride-sensitive sodium channel
  JOURNAL   Genomics 28 (3), 560-565 (1995)
   PUBMED   7490094
REFERENCE   10 (bases 1 to 3477)
  AUTHORS   McDonald,F.J., Price,M.P., Snyder,P.M. and Welsh,M.J.
  TITLE     Cloning and expression of the beta- and gamma-subunits of the human
            epithelial sodium channel
  JOURNAL   Am J Physiol 268 (5 Pt 1), C1157-C1163 (1995)
   PUBMED   7762608
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC059391.1, X87160.1 and
            AC099482.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001039.3.
            
            Summary: 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 gamma
            subunit, and mutations in this gene have been associated with
            Liddle syndrome. [provided by RefSeq, Apr 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC059391.1, SRR1660805.207998.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300061.3/ ENSP00000300061.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2386              BC059391.1         27-2412
            2387-2554           X87160.1           2274-2441
            2555-2634           BC059391.1         2581-2660
            2635-2720           X87160.1           2522-2607
            2721-2721           BC059391.1         2747-2747
            2722-2834           X87160.1           2609-2721
            2835-2851           BC059391.1         2861-2877
            2852-2859           X87160.1           2739-2746
            2860-3473           BC059391.1         2886-3499
            3474-3477           AC099482.3         30706-30709         c
FEATURES             Location/Qualifiers
     source          1..3477
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.2"
     gene            1..3477
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="sodium channel epithelial 1 subunit gamma"
                     /db_xref="GeneID:6340"
                     /db_xref="HGNC:HGNC:10602"
                     /db_xref="MIM:600761"
     exon            1..69
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            70..430
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..2063
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="amiloride-sensitive sodium channel subunit gamma;
                     amiloride-sensitive sodium channel gamma-subunit; sodium
                     channe epithelial 1 gamma subunit; ENaC gamma subunit;
                     amiloride-sensitive epithelial sodium channel gamma
                     subunit; gamma-ENaC; sodium channel epithelial 1 gamma
                     subunit; gamma-NaCH; epithelial Na(+) channel subunit
                     gamma; nonvoltage-gated sodium channel 1 subunit gamma;
                     sodium channel, nonvoltage-gated 1, gamma; sodium channel,
                     non-voltage-gated 1, gamma subunit; ENaC subunit gamma"
                     /codon_start=1
                     /product="epithelial sodium channel subunit gamma"
                     /protein_id="NP_001030.2"
                     /db_xref="CCDS:CCDS10608.1"
                     /db_xref="GeneID:6340"
                     /db_xref="HGNC:HGNC:10602"
                     /db_xref="MIM:600761"
                     /translation="MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRI
                     VVSRGRLRRLLWIGFTLTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNI
                     NPYKYSTVRHLLADLEQETREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPL
                     LIFDQDEKGKARDFFTGRKRKVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYT
                     FSSGINAIQEWYKLHYMNIMAQVPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFH
                     HPMHGNCYTFNNRENETILSTSMGGSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQ
                     DEYPFVEDVGTEIETAMVTSIGMHLTESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQ
                     ICLHSCFQTKMVEKCGCAQYSQPLPPAANYCNYQQHPNWMYCYYQLHRAFVQEELGCQ
                     SVCKEACSFKEWTLTTSLAQWPSVVSEKWLLPVLTWDQGRQVNKKLNKTDLAKLLIFY
                     KDLNQRSIMESPANSIEMLLSNFGGQLGLWMSCSVVCVIEIIEVFFIDFFSIIARRQW
                     QKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDDDLPTFNSALHLPPALGTQVPGTPP
                     PKYNTLRLERAFSNQLTDTQMLDEL"
     exon            431..731
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            732..922
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1026
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1190
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1289
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            1290..1407
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1486
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            1487..1544
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..1606
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1682
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     exon            1683..3477
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2561..2566
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="hexamer: AATAAA"
     polyA_site      2583
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
     regulatory      3450..3455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="hexamer: AATAAA"
     polyA_site      3477
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="major polyA site"
ORIGIN      
        1 gatgctagcc cgagagcgag cagaggagca gcgcacccgc acgagccttg gaccctttgg
       61 aaccgaaagc acgcccgtcc tcagagtccc gtcctcaaag tcccatcctc gccatggcac
      121 ccggagagaa gatcaaagcc aaaatcaaga agaatctgcc cgtgacgggc cctcaggcgc
      181 cgaccattaa agagctgatg cggtggtact gcctcaacac caacacccat ggctgtcgcc
      241 gcatcgtggt gtcccgcggc cgtctgcgcc gcctcctctg gatcgggttc acactgactg
      301 ccgtggccct catcctctgg cagtgcgccc tcctcgtctt ctccttctat actgtctcag
      361 tttccatcaa agtccacttc cggaagctgg attttcctgc agtcaccatc tgcaacatca
      421 acccctacaa gtacagcacc gttcgccacc ttctagctga cttggaacag gagaccagag
      481 aggccctgaa gtccctgtat ggctttccag agtcccggaa gcgccgagag gcggagtcct
      541 ggaactccgt ctcagaggga aagcagccta gattctccca ccggattccg ctgctgatct
      601 ttgatcagga tgagaagggc aaggccaggg acttcttcac agggaggaag cggaaagtcg
      661 gcggtagcat cattcacaag gcttcaaatg tcatgcacat cgagtccaag caagtggtgg
      721 gattccaact gtgctcaaat gacacctccg actgtgccac ctacaccttc agctcgggaa
      781 tcaatgccat tcaggagtgg tataagctac actacatgaa catcatggca caggtgcctc
      841 tggagaagaa aatcaacatg agctattctg ctgaggagct gctggtgacc tgcttctttg
      901 atggagtgtc ctgtgatgcc aggaatttca cgcttttcca ccacccgatg catgggaatt
      961 gctatacttt caacaacaga gaaaatgaga ccattctcag cacctccatg gggggcagcg
     1021 aatatgggct gcaagtcatt ttgtacataa acgaagagga atacaaccca ttcctcgtgt
     1081 cctccactgg agctaaggtg atcatccatc ggcaggatga gtatcccttc gtcgaagatg
     1141 tgggaacaga gattgagaca gcaatggtca cctctatagg aatgcacctg acagagtcct
     1201 tcaagctgag tgagccctac agtcagtgca cggaggacgg gagtgacgtg ccaatcagga
     1261 acatctacaa cgctgcctac tcgctccaga tctgccttca ttcatgcttc cagacaaaga
     1321 tggtggagaa atgtgggtgt gcccagtaca gccagcctct acctcctgca gccaactact
     1381 gcaactacca gcagcacccc aactggatgt attgttacta ccaactgcat cgagcctttg
     1441 tccaggaaga gctgggctgc cagtctgtgt gcaaggaagc ctgcagcttt aaagagtgga
     1501 cactaaccac aagcctggca caatggccat ctgtggtttc ggagaagtgg ttgctgcctg
     1561 ttctcacttg ggaccaaggc cggcaagtaa acaaaaagct caacaagaca gacttggcca
     1621 aactcttgat attctacaaa gacctgaacc agagatccat catggagagc ccagccaaca
     1681 gtattgagat gcttctgtcc aacttcggtg gccagctggg cctgtggatg agctgctctg
     1741 ttgtctgcgt catcgagatc atcgaggtct tcttcattga cttcttctct atcattgccc
     1801 gccgccagtg gcagaaagcc aaggagtggt gggcctggaa acaggctccc ccatgtccag
     1861 aagctccccg tagcccacag ggccaggaca atccagccct ggatatagac gatgacctac
     1921 ccactttcaa ctctgctttg cacctgcctc cagccctagg aacccaagtg cccggcacac
     1981 cgccccccaa atacaatacc ttgcgcttgg agagggcctt ttccaaccag ctcacagata
     2041 cccagatgct ggatgagctc tgaggcaggg ttgagaagac agatctagtc aggaccacca
     2101 gccatggtct aaggacatgg atcgggtgcc cccagacgtg tgcacagggg accctctgcc
     2161 ccactctggg cttttcagat actctgacca aaaagcctgc tttaaaccgc aagatggggc
     2221 ctgggcatgc gcaggaggag ccatcgggta ctacgcagca acactcacaa ctgtccaggc
     2281 tgagataaat cccgggacct gaactattag cacgtcacta gagactggga gccgaggcag
     2341 tggtgctggc ccaagtgaag gccagagtga ggactgatgc agctctttac gggtcttgag
     2401 agggaaggac tcttccaaag ccccaaagcc gagggtttca cccacactgc cagcctgggt
     2461 tggggcccaa ggatgtgacc ttgagtgtca aggctggaca gctactgcca gatgccaaag
     2521 ataggagaaa gtgccagccc tgaagctgga gccgtttgtg aataaactgt tcttcatcat
     2581 tgacactgga gaaaggtgtc ctccatgccc tcaggcagca gagaactggc ccagagccct
     2641 tggagtgttg gtggagatca gagtgccgtg gtggaggtct gggactatgt cagagtgtcc
     2701 tcactttggg gcatgggtgg gtccaggaga tggatttagt tattcaattt tgtggatgaa
     2761 taaattgagg cacagaaaga ttaagttacc ggcccaaggt gacacagtga ggaggtggca
     2821 gagctaggat ttgaacccag acaatctgac ttcatgattt tgcatccaat tcgtgtctgt
     2881 gccttttaaa gggtgaggtc tgtgtcactt tgggtgggga gggggagcat ggtgggccat
     2941 gctctgggca gctgttccaa gacagagctg acccttccat taccaatggc ctgtccctca
     3001 ccaacaagcc aactgccaca gatgacccac ttcataccac attcacatct ttccacctga
     3061 aatggctaac aggtattaaa tccttggttg gtgtttaaag ccaacccaag aacagggtgt
     3121 taggtactgt tttaagcacc tagataggtt agcatagggg actgcaaatg gtgttccgca
     3181 aagcaaatcc tgtttttgac catgaactaa gaattttatt ttattttatt ttttattttt
     3241 tgtagaaata ggatctcact atgttgccca ggctgttctt gaactcctgg cctcaaatga
     3301 tcttcccact tcagcctccc aaagtgcagg gattacaggc acaagccacc gtgcccagcc
     3361 aagaattttt atttttgctt ttaaatagca aaagaagaag attctgtgac tcatgaaaat
     3421 gatatgagat tcgaattcca gtgtctataa ataaagtttt attggtacac agccaca
//
