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 Sesame Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. 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.
No data available for CIViC summary , 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FXYD2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FXYD2 gene promoter:
Regulatory Element Products
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:
-
- 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:
-
- 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};
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
- Novus Biologicals Antibodies for FXYD2
- Invitrogen Antibodies for FXYD2
- antibodies-online Antibodies for FXYD2: See all 16
- GeneTex FXYD2 antibody for FXYD2
-
Santa Cruz Biotechnology (SCBT) Antibodies for FXYD2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for FXYD2
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- antibodies-online Proteins for FXYD2: See all 5
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Assay Products
- antibodies-online Kits for FXYD2: See all 4
No data available for DME Specific Peptides for FXYD2 Gene
Domains & Families for FXYD2 Gene
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.
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.
| 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
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FXYD2 gene
- Search ViGene Biosciences for FXYD2
CRISPR Products
-
OriGene CRISPR knockouts for FXYD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FXYD2
- GenScript: Design CRISPR guide RNA sequences for FXYD2
miRNA for FXYD2 Gene
- miRTarBase miRNAs that target FXYD2
miRNA Products
- Search ViGene Biosciences for FXYD2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FXYD2
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Clone Products
- Sino Biological Human cDNA Clone for FXYD2
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- Addgene plasmids for FXYD2
Cell Line Products
-
Horizon Cell Lines for FXYD2
-
ViGene Biosciences adenoviral particle packaged cDNA for FXYD2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FXYD2 gene
- Search ViGene Biosciences for FXYD2
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| mitochondrion | 1 |
| nucleus | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| 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 | ISS,TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for FXYD2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction |
.39
|
|
| 2 | Vascular smooth muscle contraction | ||
| 3 | Insulin secretion | ||
| 4 | Aldosterone-regulated sodium reabsorption | ||
| 5 | Bile secretion | ||
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
-
OriGene CRISPR knockouts for FXYD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FXYD2
- GenScript: Design CRISPR guide RNA sequences for FXYD2
miRNA Products
- Search ViGene Biosciences for FXYD2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FXYD2
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Clone Products
- Sino Biological Human cDNA Clone for FXYD2
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- Addgene plasmids for FXYD2
Flow Cytometry Products
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
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 34 |
|
||
| cow (Bos Taurus) |
Mammalia | FXYD2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FXYD2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fxyd2 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FXYD2 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fxyd2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FXYD2 35 |
|
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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs28938168 | Pathogenic, Hypomagnesemia 2 (HOMG2) [MIM:154020] | 117,822,424(-) | TCGTG(A/G)GGCTC | intron-variant, reference, missense | |
| rs114952534 | Likely benign | 117,820,301(+) | AAGAA(A/G/T)GGGAG | utr-variant-3-prime | |
| rs11827585 | Likely benign | 117,820,660(+) | TCCTA(G/T)CATAC | intron-variant | |
| rs144519777 | Likely benign | 117,820,678(+) | TACGG(C/T)TCATC | reference, synonymous-codon, utr-variant-3-prime | |
| rs146614981 | Likely benign | 117,822,715(+) | GCTGC(C/T)GCCTA | reference, missense |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXYD2 Gene
Disorders for FXYD2 Gene
(3) MalaCards diseases for FXYD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypomagnesemia 2, renal |
|
|
| sesame syndrome |
|
|
| primary hypomagnesemia |
|
|
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
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 K.J. … Arystarkhova E. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 64
- 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
- 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
- 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
- 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
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- antibodies-online Antibodies for FXYD2: See all 16
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
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- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
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- (100) COMPARTMENTS
- (101) HOMER
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- (104) Addgene
- (105) antibodies-online
- (106) CYP
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- (128) Genetics Home Reference
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- (130) MedlinePlus
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- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer