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

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 AllianceGenome:MGI:1195260
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: 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: human all
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Genomic context

Location:: 9 A5.2; 9 24.84 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Microglial SIX2 suppresses lipopolysaccharide (LPS)-induced neuroinflammation by up-regulating FXYD2 expression.
Title: Microglial SIX2 suppresses lipopolysaccharide (LPS)-induced neuroinflammation by up-regulating FXYD2 expression.
FXYD2 activity may be a fundamental mechanism underlying the persistent hypersensitivity to pain induced by inflammation.
Title: FXYD2, a γ subunit of Na⁺, K⁺-ATPase, maintains persistent mechanical allodynia induced by inflammation.
Data suggest that in pancreatic beta cells regulatory subunit of Na,K-ATPase FXYD2 plays a role in Akt signaling pathways associated with cell growth and proliferation.
Title: Hyperplasia of pancreatic beta cells and improved glucose tolerance in mice deficient in the FXYD2 subunit of Na,K-ATPase.
The transcription factor Runx1 controls FXYD2 expression during the maturation of the somato-sensory system, partly through regulation of the tyrosine kinase receptor Ret.
Title: Regulation of the Na,K-ATPase gamma-subunit FXYD2 by Runx1 and Ret signaling in normal and injured non-peptidergic nociceptive sensory neurons.
the gamma-subunit has an important role in the function of Na-K-ATPase to sustain the cellular cation balance over the plasma membrane in a hypertonic environment.
Title: The gamma-subunit of Na-K-ATPase is incorporated into plasma membranes of mouse IMCD3 cells in response to hypertonicity.
FXYD2 has a role in Na+ affinity and regulating thermal stability in mice
Title: Na,K-ATPase from mice lacking the gamma subunit (FXYD2) exhibits altered Na+ affinity and decreased thermal stability.
Fxyd2 encodes three mRNAs that have tissue-specific expression patterns.
Title: The mouse Na+-K+-ATPase gamma-subunit gene (Fxyd2) encodes three developmentally regulated transcripts.
direct and critical role of the gamma-subunit on IMCD3 cell survival and/or adaptation in response to ionic hypertonic stress
Title: Silencing and overexpression of the gamma-subunit of Na-K-ATPase directly affect survival of IMCD3 cells in response to hypertonic stress.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables sodium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in establishment or maintenance of transmembrane electrochemical gradient	NAS Non-traceable Author Statement more info	PubMed
involved_in inorganic cation transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular potassium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in proton transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of sodium ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion export across plasma membrane	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	ISO Inferred from Sequence Orthology more info

General protein information

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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)

NM_001404664.1 → NP_001391593.1 sodium/potassium-transporting ATPase subunit gamma isoform b

Status: VALIDATED

Source sequence(s)

AC162176

UniProtKB/TrEMBL

Q6ITT1
NM_007503.4 → NP_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, Q923I2, Q923I3, Q923I4

UniProtKB/TrEMBL

Q6ITT0, Q6ITT2

Conserved Domains (1) summary

pfam02038
Location:18 → 63

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
NM_052823.3 → NP_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/TrEMBL

A0A1L1SUA9, Q6ITT1

Related

ENSMUSP00000035429.6, ENSMUST00000041005.6

Conserved Domains (1) summary

pfam02038
Location:12 → 57

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

RNA

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