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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)

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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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