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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
  • 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
  • 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 Ion channel transport and Cardiac conduction. GO annotations related to this gene include transporter activity and sodium channel regulator activity. An important paralog of this gene is FXYD6-FXYD2.

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

Enhancers for FXYD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F117806 0.8 Ensembl ENCODE 25.4 +21.4 21379 1.1 BCOR CTCF MAZ ZNF654 RFX1 HLF ZMYM3 TRIM22 REST RAD21 FXYD2 ENSG00000254528 DSCAML1 GC11P117669
GH11F117849 0.4 ENCODE 16.6 -21.3 -21303 0.2 KDM1A FXYD2 FXYD6 FXYD6-FXYD2 TMPRSS13 DSCAML1 ENSG00000254844 ENSG00000254528
GH11F117822 1 FANTOM5 Ensembl ENCODE 15.2 +4.7 4698 4.0 ARID4B RAD21 GLIS2 ZNF143 ZNF263 CEBPB REST NR2F2 GLIS1 ETV4 IL10RA FXYD2 FXYD6 FXYD6-FXYD2 TMPRSS13 DSCAML1 ENSG00000254528 ENSG00000254844
GH11F117809 1.4 FANTOM5 Ensembl ENCODE 14.8 +19.2 19171 1.1 YBX3 HDGF ARNT WRNIP1 INSM2 KLF17 NFXL1 YBX1 ZNF48 ZNF2 DSCAML1 FXYD2 UBE4A IFT46 ENSG00000254528 ARCN1 IL10RA GC11P117669
GH11F117794 0.5 Ensembl 14.1 +32.5 32473 2.9 SUZ12 CBX2 E2F1 GATA3 ZFHX2 GLIS1 KLF9 ZBTB26 EZH2 NR2C2 DSCAML1 FXYD2 ENSG00000254844 CD3D GC11P117669
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers 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

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

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:0005215 transporter activity TAS 9048881
GO:0005216 ion channel activity IEA --
GO:0005391 sodium:potassium-exchanging ATPase activity IEA,TAS --
GO:0017080 sodium channel regulator activity IBA --
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

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:0005886 plasma membrane TAS --
GO:0005890 sodium:potassium-exchanging ATPase complex ISS,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane 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:0001558 regulation of cell growth IEA --
GO:0006810 transport TAS 9048881
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
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: DrugBank, DGIdb, HMDB, and Novoseek

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FXYD2 Gene



NURSA nuclear receptor signaling pathways regulating expression of FXYD2 Gene:

FXYD2

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

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
chimpanzee
(Pan troglodytes)
Mammalia FXYD2 34
  • 98.96 (n)
cow
(Bos Taurus)
Mammalia FXYD2 34 35
  • 87.63 (n)
dog
(Canis familiaris)
Mammalia FXYD2 34 35
  • 86.24 (n)
rat
(Rattus norvegicus)
Mammalia Fxyd2 34
  • 84.66 (n)
oppossum
(Monodelphis domestica)
Mammalia FXYD2 35
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fxyd2 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FXYD2 35
  • 61 (a)
OneToOne
Species where no ortholog for FXYD2 was found in the sources mined by GeneCards:
  • 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

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

Variants for FXYD2 Gene

Sequence variations from dbSNP and Humsavar for FXYD2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs28938168 Hypomagnesemia 2 (HOMG2) [MIM:154020], Pathogenic 117,822,424(-) TCGTG(A/G)GGCTC intron-variant, reference, missense
rs10160355 -- 117,827,887(+) CTTTC(C/T)GCTTT intron-variant
rs10160398 -- 117,829,018(+) TACCA(G/T)GCAGG intron-variant, upstream-variant-2KB
rs10750114 -- 117,821,455(+) GGTGG(G/T)CTGTT intron-variant
rs10892179 -- 117,821,406(+) AACCT(A/G)AGTCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv517470 CNV loss 19592680
nsv526267 CNV loss 19592680
nsv556460 CNV gain 21841781

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

Human Gene Mutation Database (HGMD)
FXYD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypomagnesemia 2, renal
  • renal hypomagnesemia 2
sesame syndrome
  • seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
- 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. 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 22 64
  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 22 64
  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 64
  4. 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 22 64
  5. 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 22 64

Products for FXYD2 Gene

Sources for FXYD2 Gene

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