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Aliases for FXYD2 Gene

Aliases for FXYD2 Gene

  • FXYD Domain Containing Ion Transport Regulator 2 2 3 5
  • Na(+)/K(+) ATPase Subunit Gamma 3 4
  • Sodium Pump Gamma Chain 3 4
  • ATP1G1 3 4
  • ATPase, Na+/K+ Transporting, Gamma 1 Polypeptide 3
  • FXYD Domain-Containing Ion Transport Regulator 2 4
  • Hypomagnesemia 2, Renal 2
  • HOMG2 3
  • ATP1C 4

External Ids for FXYD2 Gene

Previous HGNC Symbols for FXYD2 Gene

  • ATP1G1
  • HOMG2

Previous GeneCards Identifiers for FXYD2 Gene

  • GC11M120047
  • GC11M119202
  • GC11M117228
  • GC11M117196
  • GC11M113624
  • GC11M117673

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 hypomagnesemia 2, renal and sesame syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. GO annotations related to this gene include transporter activity and sodium channel regulator 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

Regulatory Elements for FXYD2 Gene

Promoters for FXYD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FXYD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FXYD2 Gene

Chromosome:
11
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

Genes around FXYD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FXYD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FXYD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

No Post-translational modifications

Other Protein References for FXYD2 Gene

No data available for DME Specific Peptides for FXYD2 Gene

Domains & Families for FXYD2 Gene

Protein Domains for FXYD2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P54710

UniProtKB/Swiss-Prot:

ATNG_HUMAN :
  • Belongs to the FXYD family.
Family:
  • Belongs to the FXYD family.
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:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with FXYD2: view
genes like me logo Genes that share phenotypes with FXYD2: view

Human Phenotype Ontology for FXYD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
extracellular 5
plasma membrane 5
cytosol 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:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with FXYD2: view

Pathways & Interactions 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:0006810 transport TAS 9048881
GO:0010248 establishment or maintenance of transmembrane electrochemical gradient TAS 9048881
GO:0034220 ion transmembrane transport TAS --
GO:0055085 transmembrane transport TAS --
GO:0090662 ATP hydrolysis coupled transmembrane transport ISS --
genes like me logo Genes that share ontologies with FXYD2: view

No data available for SIGNOR curated interactions for FXYD2 Gene

Drugs & Compounds for FXYD2 Gene

(3) Drugs for FXYD2 Gene - From: Novoseek, HMDB, DGIdb, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclothiazide Approved Pharma Positive, Allosteric regulator, inhibitor, Target 0
Magnesium Nutra 0
calcium Nutra 0

(1) Additional Compounds for FXYD2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
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:

Inhibitory RNA Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for FXYD2 Gene

This gene is overexpressed in Kidney - Cortex (x41.1) and Pancreas (x5.9).

Protein differential expression in normal tissues from HIPED for FXYD2 Gene

This gene is overexpressed in Urine (46.4) and Kidney (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FXYD2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for FXYD2 Gene

Orthologs for FXYD2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for FXYD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FXYD2 35
  • 87.63 (n)
  • 79.03 (a)
FXYD2 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FXYD2 35
  • 86.24 (n)
  • 82.54 (a)
FXYD2 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FXYD2 35
  • 98.96 (n)
  • 98.44 (a)
rat
(Rattus norvegicus)
Mammalia Fxyd2 35
  • 84.66 (n)
  • 82.54 (a)
oppossum
(Monodelphis domestica)
Mammalia FXYD2 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fxyd2 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FXYD2 36
  • 61 (a)
OneToOne
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

(5) 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
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

Variation tolerance for FXYD2 Gene

Residual Variation Intolerance Score: 70.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FXYD2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXYD2 Gene

Disorders for FXYD2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FXYD2 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypomagnesemia 2, renal
  • hypomagnesemia-2, renal
sesame syndrome
  • east syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FXYD2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for FXYD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FXYD2
genes like me logo Genes that share disorders with FXYD2: view

No data available for Genatlas for FXYD2 Gene

Publications for FXYD2 Gene

  1. 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 67
  2. 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
  3. 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
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for FXYD2 Gene

Sources for FXYD2 Gene

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