Aliases for FXYD2 Gene
Aliases for FXYD2 Gene
External Ids for FXYD2 Gene
- HGNC: 4026
- Entrez Gene: 486
- Ensembl: ENSG00000137731
- OMIM: 601814
- UniProtKB: P54710
Previous HGNC Symbols for FXYD2 Gene
- ATP1G1
- HOMG2
Previous GeneCards Identifiers for FXYD2 Gene
- GC11M120047
- GC11M119202
- GC11M117228
- GC11M117196
- GC11M113624
- GC11M117673
Summaries 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 Thyroid hormone signaling pathway. 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 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.
Additional gene information for FXYD2 Gene
- Monarch Initiative
- Search for FXYD2 at DataMed
- Search for FXYD2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 dump
GeneHancers around FXYD2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for FXYD2 Gene
Genes around FXYD2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by Ensembl
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC
FXYD2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for FXYD2 Gene
Post-translational modifications for FXYD2 Gene
No Post-translational modifications
Other Protein References for FXYD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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-
Abcam proteins for FXYD2
Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FXYD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P54710- Family:
-
- Belongs to the FXYD family.
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
| 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 | -- |
Phenotypes for FXYD2 Gene
- GenomeRNAi human phenotypes for FXYD2:
Animal Model Products
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miRNA for FXYD2 Gene
- miRTarBase miRNAs that target FXYD2
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-
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| mitochondrion | 1 |
| nucleus | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
- Mitochondria (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IBA | -- |
| GO:0005890 | sodium:potassium-exchanging ATPase complex | TAS,ISS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for FXYD2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction |
.39
|
|
| 2 | Aldosterone synthesis and secretion | ||
| 3 | Aldosterone-regulated sodium reabsorption | ||
| 4 | Bile secretion | ||
| 5 | cAMP signaling pathway | ||
Pathways by source for FXYD2 Gene
1 BioSystems pathway for FXYD2 Gene
6 Reactome pathways for FXYD2 Gene
1 PharmGKB pathway for FXYD2 Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for FXYD2 Gene
Drugs & Compounds for FXYD2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| sodium |
|
7440-23-5 |
|
Transcripts for FXYD2 Gene
mRNA/cDNA for FXYD2 Gene
- (3) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (86) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FXYD2 Gene
CRISPR Products
-
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Recommended
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Inhibitory RNA Products
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- VectorBuilder custom plasmid, inducible vectors for FXYD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FXYD2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FXYD2
- genomics-online: cdna clones - Search results for 136 available FXYD2 gene related products
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-
Recommended
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Recommended
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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).
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:
FXYD2SOURCE GeneReport for Unigene cluster for FXYD2 Gene:
Hs.731865mRNA 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
Organs:
Head and neck:
- brain
- ear
- head
- neck
- parathyroid
- thyroid
Thorax:
- heart
Abdomen:
- kidney
- pancreas
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for FXYD2
-
OriGene qPCR primer pairs and template standards for FXYD2
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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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FXYD2 33 |
|
||
| cow (Bos Taurus) |
Mammalia | FXYD2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | FXYD2 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fxyd2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FXYD2 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fxyd2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FXYD2 34 |
|
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)
Paralogs for FXYD2 Gene
(5) SIMAP similar genes for FXYD2 Gene using alignment to 3 proteins:
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXYD2 Gene
Disorders for FXYD2 Gene
(4) MalaCards diseases for FXYD2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypomagnesemia 2, renal |
|
|
| primary hypomagnesemia |
|
|
| seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance |
|
|
| kidney benign neoplasm |
|
|
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
No data available for Genatlas for FXYD2 Gene
Publications for FXYD2 Gene
- 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 22 58
- 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 22 58
- 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 58
- 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 22 58
- 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 22 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FXYD2
- antibodies-online: Search results for 27 available FXYD2 Antibodies ranked by validation data
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Sources for FXYD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
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