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 FXY... See more...

Aliases for FXYD2 Gene

Aliases for FXYD2 Gene

  • FXYD Domain Containing Ion Transport Regulator 2 2 3 5
  • Sodium/Potassium-Transporting ATPase Subunit Gamma 3 4
  • 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
  • GC11M117724
  • 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 Primary Hypomagnesemia. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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 Summary 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

Additional gene information for FXYD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FXYD2 Gene

Genomics for FXYD2 Gene

GeneHancer (GH) Regulatory Elements for FXYD2 Gene

Promoters and enhancers for FXYD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FXYD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FXYD2 gene promoter:
  • E47
  • Evi-1
  • FOXD1
  • Nkx2-5

Genomic Locations for FXYD2 Gene

Genomic Locations for FXYD2 Gene
chr11:117,800,844-117,828,698
(GRCh38/hg38)
Size:
27,855 bases
Orientation:
Minus strand
chr11:117,671,559-117,699,413
(GRCh37/hg19)
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:
    • Regulatory subunit of the sodium/potassium-transporting ATPase which is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit.
    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

Gene Families for FXYD2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for FXYD2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FXYD2 Gene

GenScript: Design optimal peptide antigens:
  • Sodium pump gamma chain (ATNG_HUMAN)
  • FXYD domain-containing ion transport regulator 2 (Q58I16_HUMAN)
  • FXYD domain-containing ion transport regulator 2 (Q58I17_HUMAN)

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

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.

Phenotypes From GWAS Catalog for FXYD2 Gene

Gene Ontology (GO) - Molecular Function for FXYD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9048881
GO:0005391 sodium:potassium-exchanging ATPase activity TAS 9048881
GO:0017080 sodium channel regulator activity IBA 21873635
GO:0099106 ion channel regulator activity 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

CRISPR Products

Clone Products

  • Addgene plasmids for FXYD2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FXYD2 gene
Compartment Confidence
plasma membrane 4
extracellular 1
cytosol 1
mitochondrion 0
nucleus 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

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:0070062 extracellular exosome HDA 19056867
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

Interacting Proteins for FXYD2 Gene

SIGNOR curated interactions for FXYD2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FXYD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0010248 establishment or maintenance of transmembrane electrochemical gradient IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with FXYD2: view

Drugs & Compounds for FXYD2 Gene

(6) 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, Target, inhibitor 0
Magnesium Approved, Experimental, Investigational Pharma 0
Potassium gluconate Approved Pharma Enzyme, substrate, inducer 0
Rubidium Rb-82 Approved, Investigational Pharma Carrier, substrate 0
thimerosal Approved Pharma Target, antagonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with FXYD2: view

Transcripts for FXYD2 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for FXYD2

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for FXYD2 Gene

  • Kidney(4.7)
  • Bone marrow(4.1)
  • Liver(4.1)
  • Pancreas(2.7)
  • Gall bladder(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FXYD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • neck
  • parathyroid
  • thyroid
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with FXYD2: view

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 32
  • 98.96 (n)
cow
(Bos Taurus)
Mammalia FXYD2 33 32
  • 87.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FXYD2 33 32
  • 86.24 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fxyd2 32
  • 84.66 (n)
oppossum
(Monodelphis domestica)
Mammalia FXYD2 33
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fxyd2 33
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FXYD2 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FXYD2: view image

Paralogs for FXYD2 Gene

Paralogs for FXYD2 Gene

(5) SIMAP similar genes for FXYD2 Gene using alignment to 3 proteins:

  • ATNG_HUMAN
  • Q58I16_HUMAN
  • Q58I17_HUMAN
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 Variation AA Info Type
rs114952534 likely-benign, Renal Hypomagnesemia, Dominant 117,820,301(-) G/A/T 3_prime_UTR_variant
rs11827585 likely-benign, Renal Hypomagnesemia, Dominant 117,820,660(-) G/T intron_variant
rs11999 benign, Renal Hypomagnesemia, Dominant 117,820,203(-) A/C 3_prime_UTR_variant
rs12273102 benign, Renal Hypomagnesemia, Dominant 117,824,757(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs12279985 benign, Renal Hypomagnesemia, Dominant 117,824,688(-) T/A/C 5_prime_UTR_variant, 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)

Additional Variant Information for FXYD2 Gene

Human Gene Mutation Database (HGMD)
FXYD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FXYD2

SNP Genotyping and Copy Number Assay Products

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

Disorders for FXYD2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FXYD2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypomagnesemia 2, renal
  • homg2
primary hypomagnesemia
  • hypomagnesemia 1, intestinal
ovarian clear cell carcinoma
  • clear-cell ovarian carcinoma
- 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.

Additional Disease Information for 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. Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase. (PMID: 11112438) Sweadner KJ … Arystarkhova E (Biochemical and biophysical research communications 2000) 3 4 23 56
  2. Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. (PMID: 11062458) Meij IC … Knoers NV (Nature genetics 2000) 3 4 23 56
  3. Cloning and expression of human cDNA encoding Na+, K(+)-ATPase gamma-subunit. (PMID: 9048881) Kim JW … Choe IS (Biochimica et biophysica acta 1997) 2 3 4 56
  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 DL (Diabetologia 2010) 3 23 56
  5. FXYD2 and Na,K-ATPase expression in isolated human proximal tubular cells: disturbed upregulation on renal hypomagnesemia? (PMID: 19865785) Cairo ER … Koenderink JB (The Journal of membrane biology 2009) 3 23 56

Products for FXYD2 Gene

Sources for FXYD2 Gene