FXYD2 Gene

Aliases
for FXYD2 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC11M120047 GC11M119202 GC11M117724 GC11M117228 GC11M117196 GC11M113624

Summaries
for FXYD2 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for FXYD2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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SwitchGear Promoter luciferase reporter plasmids (see all 2): FXYD2 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FXYD2

FXYD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M117673:  view genomic region     (about GC identifiers)

Proteins
for FXYD2 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for FXYD2: NX_P54710

Explore proteomics data for FXYD2 at MOPED

Post-translational modifications: 

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Domains /
Families
for FXYD2 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: P54710

Find genes that share domains with FXYD2           About GenesLikeMe

Function
for FXYD2 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 4 molecular function terms:    About this table

(inferred from 1 allele) (MGI details for Fxyd2)

genOway: Develop your customized and physiologically relevant rodent model for FXYD2

miRNA Products:		miRTarBase miRNAs that target FXYD2: hsa-mir-128-3p (MIRT022024), hsa-mir-148b-3p (MIRT019415)
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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for FXYD2

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		Addgene plasmids for FXYD2

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FXYD2

Localization
for FXYD2 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
plasma membrane	5
cytosol	1
extracellular	1
golgi apparatus	1
mitochondrion	1
nucleus	1

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Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

Pathways & Interactions
for FXYD2 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for FXYD2 About   (see all 18)   See pathways by source

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	SuperPath	Contained pathways About
1	Insulin secretion	Insulin secretion 0.36 Thyroid hormone synthesis 0.36
2	Ion channel transport	Ion channel transport 0.58
3	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	Transmembrane transport of small molecules 0.47
4	Myometrial Relaxation and Contraction Pathways	Calcium Regulation in the Cardiac Cell 0.43
5	Salivary secretion	Salivary secretion 0.34

1 BioSystems Pathway for FXYD2

Calcium Regulation in the Cardiac Cell

1 Reactome Pathway for FXYD2

Ion transport by P-type ATPases

1 PharmGKB Pathway for FXYD2

Diuretics Pathway, Pharmacodynamics

Selected Kegg Pathways  (Kegg details for FXYD2)

	Cardiac muscle contraction
	Adrenergic signaling in cardiomyocytes
	Insulin secretion
	Thyroid hormone synthesis
	Thyroid hormone signaling pathway

Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

Drugs & Compounds
for FXYD2 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Transcripts
for FXYD2 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for FXYD2 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FXYD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTTATAATAA

About this image

Kidney (Urinary System)
Presumptive Podocytes Podocyte Layer
Epithelial Cells
Presumptive Podocytes Podocyte Layer
Adipose (Muscoskeletal System)
Visceral White Adipose
Inner Cell Mass (Early Embryonic Tissues)
Blimp1- mVenus and stella-ECFP genetically modified stem cells
Pancreas (Endocrine System)

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FXYD2

Orthologs
for FXYD2 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for FXYD2 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for FXYD2 gene

5 SIMAP similar genes for FXYD2 using alignment to 3 protein entries:     ATNG_HUMAN (see all proteins):

FXYD6    FXYD7    FXYD1    FXYD3    FXYD6P3

Find genes that share paralogs with FXYD2           About GenesLikeMe

Genomic Variants
for FXYD2 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for FXYD2 (see all 308)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs289381681,2,,4	C	Hypomagnesemia 2 (HOMG2)4 pathogenic1	117556740(-)	TCGTGA/GGGCTC	4	R G	mis1		0	--	--	--	--
rs20772751,2	C	--	113634461(-)	AAAAAG/AGGGCT	1	--	us2k1 trp3		2		NA WA	4
rs1419349201,2		--	117553922(+)	AATAGA/GTGGCC	2	--	ds5001		0	--	--	--	--
rs1890184731,2		--	117553957(+)	AGCTTA/GGTACC	2	--	ds5001		0	--	--	--	--
rs1164587021,2	F	--	117553958(+)	GCTTAG/TTACCA	2	--	ds5001		1		WA	118
rs1158640411,2	F	--	117553962(+)	AGTACC/TAGGAG	2	--	ds5001		1		WA	118
rs1817345261,2		--	117553991(+)	GGCTCC/TTTCAG	2	--	ds5001		0	--	--	--	--
rs116002161,2	C,F,H	--	117554001(+)	GGACAT/CGTGCA	2	--	ds5001		19		NS EA NA	2358
rs116002261,2	C,F,A,H	--	117554024(+)	CAGGCT/CCCCCG	2	--	ds5001		18		NS EA NA CSA WA	2298
rs5888071,2	C,F,O,H	--	117554097(+)	ACACAC/GAGGCC	2	--	ds5001		21		MN NA NS EA WA CSA	1005

HapMap Linkage Disequilibrium report for FXYD2 (117671559 - 117699413 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for FXYD2:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv526267	CNV	Loss	19592680
dgv1317n71	CNV	Loss	21882294
nsv517470	CNV	Loss	19592680

Human Gene Mutation Database (HGMD): FXYD2

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing FXYD2

DNA2.0 Custom Variant and Variant Library Synthesis for FXYD2

Disorders / Diseases
for FXYD2 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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. Note=The disease is caused by mutations affecting

the gene represented in this entry

1 disease for FXYD2:    
About MalaCards

1 Novoseek inferred disease relationship for FXYD2 gene    About this table

Publications
for FXYD2 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FXYD2 gene, integrated from 10 sources (see all 42): (articles sorted by number of sources associating them with FXYD2)

Utopia: connect your pdf to the dynamic world of online information

1. Cloning and expression of human cDNA encoding Na+, K(+)-ATPase gamma- subunit. (PubMed id 9048881)^{1, 2, 3} Kim J.W.... Choe I.S. (Biochim. Biophys. Acta 1997)
2. Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase. (PubMed id 11112438)^{1, 2, 9} Sweadner K.J.... Arystarkhova E. (Biochem. Biophys. Res. Commun. 2000)
3. Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit. (PubMed id 11062458)^{1, 2, 9} Meij I.C.... Knoers N.V.A.M. (Nat. Genet. 2000)
4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
5. Hereditary isolated renal magnesium loss maps to chromosome 11q23. (PubMed id 9915957)^{1, 3} Meij I.C....Knoers N.V. (Am. J. Hum. Genet. 1999)
6. FXYD2 and Na,K-ATPase expression in isolated human proximal tubular cells: disturbed upregulation on renal hypomagnesemia? (PubMed id 19865785)^{1, 9} Cairo E.R....Koenderink J.B. (J. Membr. Biol. 2009)
7. A genomic-based approach identifies FXYD domain containing ion transport regulator 2 (FXYD2)gammaa as a pancreatic beta cell-specific biomarker. (PubMed id 20379810)^{1, 9} Flamez D....Eizirik D.L. (Diabetologia 2010)
8. Expression of the Na+/K+-transporting ATPase gamma subunit FXYD2 in renal tumors. (PubMed id 23196795)¹ Gaut J.P....Ladenson J.H. (Mod. Pathol. 2013)
9. Identification of a crab gill FXYD2 protein and regulation of crab microsomal Na,K-ATPase activity by mammalian FXYD2 peptide. (PubMed id 22588134)¹ Silva E.C....Fontes C.F. (Biochim. Biophys. Acta 2012)
10. HNF-1B specifically regulates the transcription of the I^a-subunit of the Na+/K+-ATPase. (PubMed id 21130072)¹ FerrA" S....Bindels R.J. (Biochem. Biophys. Res. Commun. 2011)

External Searches for FXYD2 gene

Genome Databases showing FXYD2 gene

Other Databases showing FXYD2 gene

Specialized Databases showing FXYD2 gene

Products
for FXYD2 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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