LOCUS       NM_001680                589 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens FXYD domain containing ion transport regulator 2
            (FXYD2), transcript variant a, mRNA.
ACCESSION   NM_001680
VERSION     NM_001680.5
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 589)
  AUTHORS   Zhang,Z., Tang,Y., Li,L., Yang,W., Xu,Y., Zhou,J., Ma,K., Zhang,K.,
            Zhuang,H., Gong,Y. and Gong,K.
  TITLE     Downregulation of FXYD2 Is Associated with Poor Prognosis and
            Increased Regulatory T Cell Infiltration in Clear Cell Renal Cell
            Carcinoma
  JOURNAL   J Immunol Res 2022, 4946197 (2022)
   PUBMED   36313180
  REMARK    GeneRIF: Downregulation of FXYD2 Is Associated with Poor Prognosis
            and Increased Regulatory T Cell Infiltration in Clear Cell Renal
            Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 589)
  AUTHORS   Guo,Y., Zhang,Y., Yan,R., Huang,B., Ye,F., Wu,L., Chi,X., Shi,Y.
            and Zhou,Q.
  TITLE     Cryo-EM structures of recombinant human sodium-potassium pump
            determined in three different states
  JOURNAL   Nat Commun 13 (1), 3957 (2022)
   PUBMED   35803952
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 589)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 589)
  AUTHORS   Sweadner,K.J., Wetzel,R.K. and Arystarkhova,E.
  TITLE     Genomic organization of the human FXYD2 gene encoding the gamma
            subunit of the Na,K-ATPase
  JOURNAL   Biochem Biophys Res Commun 279 (1), 196-201 (2000)
   PUBMED   11112438
REFERENCE   5  (bases 1 to 589)
  AUTHORS   Meij,I.C., Koenderink,J.B., van Bokhoven,H., Assink,K.F.,
            Groenestege,W.T., de Pont,J.J., Bindels,R.J., Monnens,L.A., van den
            Heuvel,L.P. and Knoers,N.V.
  TITLE     Dominant isolated renal magnesium loss is caused by misrouting of
            the Na(+),K(+)-ATPase gamma-subunit
  JOURNAL   Nat Genet 26 (3), 265-266 (2000)
   PUBMED   11062458
REFERENCE   6  (bases 1 to 589)
  AUTHORS   Meij,I.C., Saar,K., van den Heuvel,L.P., Nuernberg,G., Vollmer,M.,
            Hildebrandt,F., Reis,A., Monnens,L.A. and Knoers,N.V.
  TITLE     Hereditary isolated renal magnesium loss maps to chromosome 11q23
  JOURNAL   Am J Hum Genet 64 (1), 180-188 (1999)
   PUBMED   9915957
REFERENCE   7  (bases 1 to 589)
  AUTHORS   Minor,N.T., Sha,Q., Nichols,C.G. and Mercer,R.W.
  TITLE     The gamma subunit of the Na,K-ATPase induces cation channel
            activity
  JOURNAL   Proc Natl Acad Sci U S A 95 (11), 6521-6525 (1998)
   PUBMED   9600999
REFERENCE   8  (bases 1 to 589)
  AUTHORS   Therien,A.G., Goldshleger,R., Karlish,S.J. and Blostein,R.
  TITLE     Tissue-specific distribution and modulatory role of the gamma
            subunit of the Na,K-ATPase
  JOURNAL   J Biol Chem 272 (51), 32628-32634 (1997)
   PUBMED   9405479
REFERENCE   9  (bases 1 to 589)
  AUTHORS   Kim,J.W., Lee,Y., Lee,I.A., Kang,H.B., Choe,Y.K. and Choe,I.S.
  TITLE     Cloning and expression of human cDNA encoding Na+, K(+)-ATPase
            gamma-subunit
  JOURNAL   Biochim Biophys Acta 1350 (2), 133-135 (1997)
   PUBMED   9048881
REFERENCE   10 (bases 1 to 589)
  AUTHORS   Chan,E.K., Imai,H., Hamel,J.C. and Tan,E.M.
  TITLE     Human autoantibody to RNA polymerase I transcription factor hUBF.
            Molecular identity of nucleolus organizer region autoantigen NOR-90
            and ribosomal RNA transcription upstream binding factor
  JOURNAL   J Exp Med 174 (5), 1239-1244 (1991)
   PUBMED   1940801
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Kathleen Sweadner. The reference sequence was
            derived from BC013289.1, AF241236.1, AA814197.1 and AP000757.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001680.4.
            
            Summary: This gene encodes a member of the FXYD family of
            transmembrane proteins. This particular protein encodes the
            sodium/potassium-transporting ATPase subunit gamma. Mutations in
            this gene have been associated with Renal Hypomagnesemia-2.
            Alternatively spliced transcript variants have been described.
            Read-through transcripts have been observed between this locus and
            the upstream FXYD domain-containing ion transport regulator 6
            (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (a) represents the most
            predominant transcript and encodes isoform 1.
            
            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 :: BX095407.1, AF241236.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292079.7/ ENSP00000292079.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-442               BC013289.1         4-445
            443-570             AF241236.1         418-545
            571-571             AA814197.1         14-14               c
            572-589             AP000757.4         64487-64504         c
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..589
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /note="FXYD domain containing ion transport regulator 2"
                     /db_xref="GeneID:486"
                     /db_xref="HGNC:HGNC:4026"
                     /db_xref="MIM:601814"
     exon            1..91
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..267
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /note="isoform 1 is encoded by transcript variant a;
                     ATPase, Na+/K+ transporting, gamma 1 polypeptide; sodium
                     pump gamma chain; Na(+)/K(+) ATPase subunit gamma"
                     /codon_start=1
                     /product="sodium/potassium-transporting ATPase subunit
                     gamma isoform 1"
                     /protein_id="NP_001671.2"
                     /db_xref="CCDS:CCDS8386.1"
                     /db_xref="GeneID:486"
                     /db_xref="HGNC:HGNC:4026"
                     /db_xref="MIM:601814"
                     /translation="MTGLSMDGGGSPKGDVDPFYYDYETVRNGGLIFAGLAFIVGLLI
                     LLSRRFRCGGNKKRRQINEDEP"
     exon            92..130
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /inference="alignment:Splign:2.1.0"
     exon            131..205
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /inference="alignment:Splign:2.1.0"
     exon            206..242
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /inference="alignment:Splign:2.1.0"
     exon            243..273
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /inference="alignment:Splign:2.1.0"
     exon            274..589
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      470..475
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /note="hexamer: AATAAA"
     polyA_site      506
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /note="major polyA site"
     regulatory      560..565
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
                     /note="hexamer: AATACA"
     polyA_site      565
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
     polyA_site      589
                     /gene="FXYD2"
                     /gene_synonym="ATP1G1; HOMG2"
ORIGIN      
        1 agacactctc caaaaagcag agacagcagg aagaggggag tggaggcagc ccattcacct
       61 ggggaaatga ctgggttgtc gatggacggt ggcggcagcc ccaaggggga cgtggacccg
      121 ttctactatg actatgagac cgttcgcaat gggggcctga tcttcgctgg actggccttc
      181 atcgtggggc tcctcatcct cctcagcaga agattccgct gtgggggcaa taagaagcgc
      241 aggcaaatca atgaagatga gccgtaacag cagcctcggc ggtgccaccc actgcactgg
      301 ggccagctgg gaagccaagc atggccctgc ctctggcgcc tccccttctt ccctgggctt
      361 tagacctttg tccccgtcac tgccagcgct tgggctgaag gaagctccag actcaatgtg
      421 acccccaggt ggcatcgcca actcctgcct cgtgccacct catgcttata ataaagccgg
      481 cgtcagagac cgctgcttcc ctcacctgcc tgcctgtctc cctcctctgt caccaccagc
      541 ctctccaagc tcaagtacaa atacagccgg gtctcatttg ttttttcaa
//
