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    Fxyd2 FXYD domain-containing ion transport regulator 2 [ Mus musculus (house mouse) ]

    Gene ID: 11936, updated on 23-Jun-2021

    Summary

    Official Symbol
    Fxyd2provided by MGI
    Official Full Name
    FXYD domain-containing ion transport regulator 2provided by MGI
    Primary source
    MGI:MGI:1195260
    See related
    Ensembl:ENSMUSG00000059412
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Atp1; Atp1g1
    Summary
    This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The Type III integral membrane protein encoded by this gene is the gamma subunit of the Na,K-ATPase present on the plasma membrane. Although the Na,K-ATPase does not depend on the gamma subunit to be functional, it is thought that the gamma subunit modulates the enzyme's activity by inducing ion channel activity. Multiple transcript variants have been described for this gene that are expressed in tissue-specific and developmental stage-specific patterns and encode proteins that differ at the N-terminus. [provided by RefSeq, Sep 2009]
    Expression
    Restricted expression toward kidney adult (RPKM 1608.6) See more
    Orthologs
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    Genomic context

    See Fxyd2 in Genome Data Viewer
    Location:
    9; 9 A5.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (45311007..45321576)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (45399709..45410278)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (45207792..45218361)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene brown adipose tissue enriched long noncoding RNA 3 Neighboring gene transmembrane protease, serine 13 Neighboring gene uncharacterized LOC118567699 Neighboring gene RIKEN cDNA 4833428L15 gene Neighboring gene FXYD domain-containing ion transport regulator 6 Neighboring gene DS cell adhesion molecule like 1 Neighboring gene predicted gene, 22069

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ion channel regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables sodium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables sodium channel regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of sodium:potassium-exchanging ATPase complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    sodium/potassium-transporting ATPase subunit gamma
    Names
    ATPase, Na+/K+ transporting, gamma 1 polypeptide
    Na(+)/K(+) ATPase subunit gamma
    sodium pump gamma chain
    sodium/potassium-transporting ATPase gamma chain

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_007503.4NP_031529.2  sodium/potassium-transporting ATPase subunit gamma isoform a

      See identical proteins and their annotated locations for NP_031529.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (a) represents the most frequently occurring transcript and it encodes the longest protein (isoform a).
      Source sequence(s)
      AC162176
      UniProtKB/Swiss-Prot
      Q04646
      UniProtKB/TrEMBL
      Q6ITT2
      Conserved Domains (1) summary
      pfam02038
      Location:1863
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    2. NM_052823.3NP_439888.1  sodium/potassium-transporting ATPase subunit gamma isoform b

      See identical proteins and their annotated locations for NP_439888.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (b) uses an alternate segment for its 5' UTR and coding region, compared to variant a. The resulting protein (isoform b) has a shorter and distinct N-terminus when it is compared to isoform a.
      Source sequence(s)
      AC162176
      Consensus CDS
      CCDS23134.1
      UniProtKB/Swiss-Prot
      Q04646
      UniProtKB/TrEMBL
      Q6ITT1
      Related
      ENSMUSP00000035429.6, ENSMUST00000041005.6
      Conserved Domains (1) summary
      pfam02038
      Location:1257
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

    RNA

    1. NR_028499.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (c) uses an alternate 5'-most exon, compared to variant a. This variant is represented as non-coding because it lacks an in-frame coding region, compared to variant a.
      Source sequence(s)
      AA396010, BU756853, CA491597, CB600958
      Related
      ENSMUST00000214680.2

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      45311007..45321576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244032.1XP_030099892.1  sodium/potassium-transporting ATPase subunit gamma isoform X1

      Conserved Domains (1) summary
      pfam02038
      Location:1257
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
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