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Aliases for FXYD2 Gene

Aliases for FXYD2 Gene

  • FXYD Domain Containing Ion Transport Regulator 2 2 3
  • ATP1G1 3 4 6
  • Na(+)/K(+) ATPase Subunit Gamma 3 4
  • Sodium Pump Gamma Chain 3 4
  • HOMG2 3 6
  • Sodium/Potassium-Transporting ATPase Subunit Gamma 3
  • ATPase, Na+/K+ Transporting, Gamma 1 Polypeptide 3
  • FXYD Domain-Containing Ion Transport Regulator 2 4
  • Hypomagnesemia 2, Renal 2
  • ATP1C 4

External Ids for FXYD2 Gene

Previous Symbols for FXYD2 Gene

  • ATP1G1
  • HOMG2

Summaries for FXYD2 Gene

Entrez Gene Summary for FXYD2 Gene

  • 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]

GeneCards Summary for FXYD2 Gene

FXYD2 (FXYD Domain Containing Ion Transport Regulator 2) is a Protein Coding gene. Diseases associated with FXYD2 include autosomal dominant primary hypomagnesemia with hypocalciuria and hypomagnesemia-2, renal. Among its related pathways are Diuretics Pathway, Pharmacodynamics and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include transporter activity and sodium:potassium-exchanging ATPase activity.

UniProtKB/Swiss-Prot for FXYD2 Gene

  • May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase

Gene Wiki entry for FXYD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FXYD2 Gene

Genomics for FXYD2 Gene

Genomic Location for FXYD2 Gene

Start:
117,800,844 bp from pter
End:
117,828,698 bp from pter
Size:
27,855 bases
Orientation:
Minus strand

Genomic View for FXYD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FXYD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXYD2 Gene

Regulatory Elements for FXYD2 Gene

Proteins for FXYD2 Gene

  • Protein details for FXYD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54710-ATNG_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit gamma
    Protein Accession:
    P54710
    Secondary Accessions:
    • Q15332
    • Q53YC1
    • Q9GZP3
    • Q9GZQ7

    Protein attributes for FXYD2 Gene

    Size:
    66 amino acids
    Molecular mass:
    7283 Da
    Quaternary structure:
    • Composed of three subunits: alpha (catalytic), beta and gamma
    SequenceCaution:
    • Sequence=AAB09425.1; Type=Frameshift; Positions=12; Evidence={ECO:0000305}; Sequence=CAA60152.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FXYD2 Gene

    Alternative splice isoforms for FXYD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FXYD2 Gene

Proteomics data for FXYD2 Gene at MOPED

Post-translational modifications for FXYD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FXYD2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for FXYD2 Gene

Domains for FXYD2 Gene

Protein Domains for FXYD2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

ATNG_HUMAN
Family:
  • Belongs to the FXYD family.:
    • P54710
genes like me logo Genes that share domains with FXYD2: view

No data available for Gene Families for FXYD2 Gene

Function for FXYD2 Gene

Molecular function for FXYD2 Gene

UniProtKB/Swiss-Prot Function: May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase

Gene Ontology (GO) - Molecular Function for FXYD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9048881
GO:0005216 ion channel activity IEA --
GO:0005391 sodium:potassium-exchanging ATPase activity IEA --
GO:0005515 protein binding --
GO:0017080 sodium channel regulator activity IBA --
genes like me logo Genes that share ontologies with FXYD2: view

Phenotypes for FXYD2 Gene

genes like me logo Genes that share phenotypes with FXYD2: view

Animal Models for FXYD2 Gene

MGI Knock Outs for FXYD2:

miRNA for FXYD2 Gene

miRTarBase miRNAs that target FXYD2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FXYD2 Gene

Localization for FXYD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXYD2 Gene

Membrane; Single-pass type III membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FXYD2 Gene COMPARTMENTS Subcellular localization image for FXYD2 gene
Compartment Confidence
plasma membrane 5
cytosol 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FXYD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005890 sodium:potassium-exchanging ATPase complex IEA --
GO:0016020 membrane --
GO:0016323 basolateral plasma membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with FXYD2: view

Pathways for FXYD2 Gene

genes like me logo Genes that share pathways with FXYD2: view

Gene Ontology (GO) - Biological Process for FXYD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IEA --
GO:0006810 transport TAS 9048881
GO:0006811 ion transport --
GO:0006813 potassium ion transport --
GO:0006814 sodium ion transport --
genes like me logo Genes that share ontologies with FXYD2: view

Compounds for FXYD2 Gene

(3) HMDB Compounds for FXYD2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4
Sodium
  • Sodium
7440-23-5

(1) Drugbank Compounds for FXYD2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cyclothiazide
  • Ciclotiazida [INN-Spanish]
2259-96-3 target inhibitor

(1) Novoseek inferred chemical compound relationships for FXYD2 Gene

Compound -log(P) Hits PubMed IDs
magnesium 44.2 1
genes like me logo Genes that share compounds with FXYD2: view

Transcripts for FXYD2 Gene

Unigene Clusters for FXYD2 Gene

FXYD domain containing ion transport regulator 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FXYD2 Gene

No ASD Table

Relevant External Links for FXYD2 Gene

GeneLoc Exon Structure for
FXYD2
ECgene alternative splicing isoforms for
FXYD2

Expression for FXYD2 Gene

mRNA expression in normal human tissues for FXYD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FXYD2 Gene

This gene is overexpressed in Kidney - Cortex (41.1) and Pancreas (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FXYD2 Gene

SOURCE GeneReport for Unigene cluster for FXYD2 Gene Hs.731865

mRNA Expression by UniProt/SwissProt for FXYD2 Gene

P54710-ATNG_HUMAN
Tissue specificity: Expressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron epithelial cells
genes like me logo Genes that share expressions with FXYD2: view

Orthologs for FXYD2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for FXYD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FXYD2 36
  • 98.96 (n)
  • 98.44 (a)
cow
(Bos Taurus)
Mammalia FXYD2 36
  • 87.63 (n)
  • 79.03 (a)
FXYD2 37
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FXYD2 36
  • 86.24 (n)
  • 82.54 (a)
FXYD2 37
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fxyd2 16
Fxyd2 37
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FXYD2 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FXYD2 37
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fxyd2 36
  • 84.66 (n)
  • 82.54 (a)
Species with no ortholog for FXYD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FXYD2 Gene

ENSEMBL:
Gene Tree for FXYD2 (if available)
TreeFam:
Gene Tree for FXYD2 (if available)

Paralogs for FXYD2 Gene

Selected SIMAP similar genes for FXYD2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FXYD2: view

No data available for Paralogs for FXYD2 Gene

Variants for FXYD2 Gene

Sequence variations from dbSNP and Humsavar for FXYD2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
VAR_013280 Hypomagnesemia 2 (HOMG2)

Structural Variations from Database of Genomic Variants (DGV) for FXYD2 Gene

Variant ID Type Subtype PubMed ID
dgv1317n71 CNV Loss 21882294
nsv517470 CNV Loss 19592680
nsv526267 CNV Loss 19592680

Relevant External Links for FXYD2 Gene

HapMap Linkage Disequilibrium report
FXYD2
Human Gene Mutation Database (HGMD)
FXYD2

Disorders for FXYD2 Gene

(1) OMIM Diseases for FXYD2 Gene (601814)

UniProtKB/Swiss-Prot

ATNG_HUMAN
  • Hypomagnesemia 2 (HOMG2) [MIM:154020]: A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria. {ECO:0000269 PubMed:11062458}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for FXYD2 Gene

(1) Novoseek inferred disease relationships for FXYD2 Gene

Disease -log(P) Hits PubMed IDs
hypomagnesemia 85.4 7
genes like me logo Genes that share disorders with FXYD2: view

Publications for FXYD2 Gene

  1. Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit. (PMID: 11062458) Meij I.C. … Knoers N.V.A.M. (Nat. Genet. 2000) 3 4 23
  2. Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase. (PMID: 11112438) Sweadner K.J. … Arystarkhova E. (Biochem. Biophys. Res. Commun. 2000) 3 4 23
  3. Cloning and expression of human cDNA encoding Na+, K(+)-ATPase gamma- subunit. (PMID: 9048881) Kim J.W. … Choe I.S. (Biochim. Biophys. Acta 1997) 2 3 4
  4. FXYD2 and Na,K-ATPase expression in isolated human proximal tubular cells: disturbed upregulation on renal hypomagnesemia? (PMID: 19865785) Cairo E.R. … Koenderink J.B. (J. Membr. Biol. 2009) 3 23
  5. A genomic-based approach identifies FXYD domain containing ion transport regulator 2 (FXYD2)gammaa as a pancreatic beta cell-specific biomarker. (PMID: 20379810) Flamez D. … Eizirik D.L. (Diabetologia 2010) 3 23

Products for FXYD2 Gene

Sources for FXYD2 Gene

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