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FXYD2 FXYD domain containing ion transport regulator 2 [ Homo sapiens (human) ]

Gene ID: 486, updated on 5-Jan-2022

Summary

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Official Symbol
FXYD2provided by HGNC
Official Full Name
FXYD domain containing ion transport regulator 2provided by HGNC
Primary source
HGNC:HGNC:4026
See related
Ensembl:ENSG00000137731 MIM:601814
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HOMG2; ATP1G1
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]
Expression
Biased expression in kidney (RPKM 585.7), gall bladder (RPKM 107.1) and 2 other tissues See more
Orthologs
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Genomic context

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See FXYD2 in Genome Data Viewer
Location:
11q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (117820057..117828089, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117690772..117698804, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene DS cell adhesion molecule like 1 Neighboring gene uncharacterized LOC105369515 Neighboring gene uncharacterized LOC107984394 Neighboring gene FXYD6-FXYD2 readthrough Neighboring gene FXYD domain containing ion transport regulator 6 Neighboring gene transmembrane serine protease 13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Targeting FXYD2 by cardiac glycosides potently blocks tumor growth in ovarian clear cell carcinoma. Hsu IL, et al. Oncotarget, 2016 Sep 27. PMID 26910837, Free PMC Article
  2. Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia. de Baaij JH, et al. Nephrol Dial Transplant, 2015 Jun. PMID 25765846
  3. Structure of the Na,K-ATPase regulatory protein FXYD2b in micelles: implications for membrane-water interfacial arginines. Gong XM, et al. Biochim Biophys Acta, 2015 Jan. PMID 24794573, Free PMC Article
  4. FXYD2c plays a potential role in modulating Na(+)/K (+)-ATPase activity in HK-2 cells upon hypertonic challenge. Chang CY, et al. J Membr Biol, 2014 Jan. PMID 24258619
  5. Expression of the Na+/K+-transporting ATPase gamma subunit FXYD2 in renal tumors. Gaut JP, et al. Mod Pathol, 2013 May. PMID 23196795

See all (39) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FXYD2 is functionally upregulated in ovarian clear cell carcinoma and may serve as a promising prognostic biomarker and therapeutic target of cardiac glycosides in OCCC
    Title: Targeting FXYD2 by cardiac glycosides potently blocks tumor growth in ovarian clear cell carcinoma.
  2. Recurrent FXYD2 p.Gly41Arg mutation is associated with isolated dominant hypomagnesaemia.
    Title: Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
  3. FXYD2b could regulate the Na,K-ATPase by modulating the effective membrane surface electrostatics near the ion binding sites of the pump.
    Title: Structure of the Na,K-ATPase regulatory protein FXYD2b in micelles: implications for membrane-water interfacial arginines.
  4. our findings suggested that FXYD2c played a role in regulation of NKA activity by enhancing the expression of NKA in HK-2 cells upon hypertonic challenge.
    Title: FXYD2c plays a potential role in modulating Na(+)/K (+)-ATPase activity in HK-2 cells upon hypertonic challenge.
  5. PCBD1 (dimerization cofactor of HNF-1alpha) is coactivator of the HNF1B-mediated transcription necessary for fine tuning ATPase Na+/K+ transporting gamma 1 polypeptide (FXYD2) transcription in the distal convoluted tubule.
    Title: Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
  6. This is the first report demonstrating the potential utility of FXYD2 immunohistochemistry in the diagnosis of chromophobe renal cell carcinoma
    Title: Expression of the Na+/K+-transporting ATPase gamma subunit FXYD2 in renal tumors.
  7. findings confirm the presence of an FXYD2 peptide in the crab gill Na,K-ATPase and demonstrate that this peptide plays an important role in regulating enzyme activity
    Title: Identification of a crab gill FXYD2 protein and regulation of crab microsomal Na,K-ATPase activity by mammalian FXYD2 peptide.
  8. wild type HNF1B specifically induces FXYD2A transcription whereas all HNF1B mutants partially prevented it.
    Title: HNF-1B specifically regulates the transcription of the γa-subunit of the Na+/K+-ATPase.
  9. Datab propose human FXYD2gammaa as a novel beta cell-specific biomarker.
    Title: A genomic-based approach identifies FXYD domain containing ion transport regulator 2 (FXYD2)gammaa as a pancreatic beta cell-specific biomarker.
  10. Study reveals, in various human tissues, the specific expression of FXYD2, which may associate with Na, K-ATPase in selected cell types and modulate its catalytic properties.
    Title: Differential cellular expression of FXYD1 (phospholemman) and FXYD2 (gamma subunit of Na, K-ATPase) in normal human tissues: a study using high density human tissue microarrays.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Renal hypomagnesemia 2
MedGen: C1835171 OMIM: 154020 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough FXYD6-FXYD2

Readthrough gene: FXYD6-FXYD2, Included gene: FXYD6

Homology

Clone Names

  • MGC12372

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein-macromolecule adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables sodium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in potassium ion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in sodium ion export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of sodium:potassium-exchanging ATPase complex ISS
Inferred from Sequence or Structural Similarity
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

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.

Genomic

  1. NG_011543.1 RefSeqGene

    Range
    5004..13036
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001680.5 → NP_001671.2  sodium/potassium-transporting ATPase subunit gamma isoform 1

    See identical proteins and their annotated locations for NP_001671.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) represents the most predominant transcript and encodes isoform 1.
    Source sequence(s)
    AA814197, AF241236, AP000757, BC013289
    Consensus CDS
    CCDS8386.1
    UniProtKB/Swiss-Prot
    P54710
    Related
    ENSP00000292079.2, ENST00000292079.7
    Conserved Domains (1) summary
    pfam02038
    Location:14 → 59
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

  2. NM_021603.4 → NP_067614.1  sodium/potassium-transporting ATPase subunit gamma isoform 2

    See identical proteins and their annotated locations for NP_067614.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) contains an alternate 5' terminal exon compared to transcript variant a, resulting in a slightly shorter isoform (2) with a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AA309757, AA814197, AF241236, AP000757, BC005302
    Consensus CDS
    CCDS8385.1
    UniProtKB/Swiss-Prot
    P54710
    Related
    ENSP00000260287.2, ENST00000260287.2
    Conserved Domains (1) summary
    pfam02038
    Location:12 → 57
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    117820057..117828089 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001127489.1: Suppressed sequence

    Description
    NM_001127489.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54710.3 GenPept UniProtKB/Swiss-Prot:P54710

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