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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FXYD2 Gene

protein-coding GIFtS: 56
GCID: GC11M117673

FXYD Domain Containing Ion Transport Regulator 2

(Previous names: hypomagnesemia 2, renal)
(Previous symbols: ATP1G1, HOMG2)

9 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
FXYD Domain Containing Ion Transport Regulator 2¹ ²		Hypomagnesemia 2, Renal¹
ATP1G1¹ ² ³ ⁵		ATPase, Na+/K+ Transporting, Gamma 1 Polypeptide²
HOMG2¹ ² ⁵		Sodium/Potassium-Transporting ATPase Subunit Gamma²
Sodium Pump Gamma Chain² ³		ATP1C³
Na(+)/K(+) ATPase Subunit Gamma² ³		FXYD Domain-Containing Ion Transport Regulator 2³

External Ids:	HGNC: 4026¹	Entrez Gene: 486²	Ensembl: ENSG00000137731⁷	OMIM: 601814⁵	UniProtKB: P54710³

Export aliases for FXYD2 gene to outside databases

Previous GC identifers: GC11M120047 GC11M119202 GC11M117724 GC11M117228 GC11M117196 GC11M113624

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 glycogen storage disease type 1b, and among its related super-pathways are Thyroid hormone synthesis and Ion channel transport. GO annotations related to this gene include sodium:potassium-exchanging ATPase activity and transporter activity.

UniProtKB/Swiss-Prot: ATNG_HUMAN, P54710

Function: 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

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NT_033899.8 NC_018922.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FXYD2 gene promoter:
FOXD1 Nkx2-5 E47 Evi-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FXYD2 promoter sequence

Search SABiosciences Chromatin IP Primers for FXYD2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FXYD2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23

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

GeneLoc information about chromosome 11 GeneLoc Exon Structure

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

Start:	117,671,559 bp from pter	End:	117,699,413 bp from pter
Size:	27,855 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATNG_HUMAN, P54710 (See protein sequence)

Recommended Name: Sodium/potassium-transporting ATPase subunit gamma

Size: 66 amino acids; 7283 Da

Subunit: Composed of three subunits: alpha (catalytic), beta and gamma

Subcellular location: Membrane; Single-pass type III membrane protein (Potential)

Sequence caution: Sequence=AAB09425.1; Type=Frameshift; Positions=12; Sequence=CAA60152.1; Type=Erroneous translation;

Note=Wrong choice of frame;

Secondary accessions: Q15332 Q53YC1 Q9GZP3 Q9GZQ7

Alternative splicing: 2 isoforms: P54710-1 P54710-2

Explore the universe of human proteins at neXtProt for FXYD2: NX_P54710

Explore proteomics data for FXYD2 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P54710

FXYD2 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_001671.2 NP_067614.1

ENSEMBL proteins:

ENSP00000436414 ENSP00000432430 ENSP00000292079 ENSP00000260287

Reactome Protein details: P54710
Human Recombinant Protein Products for FXYD2:

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Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005890	sodium:potassium-exchanging ATPase complex	NAS	--
GO:0016020	membrane	--	--
GO:0016323	basolateral plasma membrane	IEA	--
GO:0043231	intracellular membrane-bounded organelle	IEA	--

FXYD2 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

1 InterPro protein domain:

IPR000272 Ion-transport_regulator_FXYD

Graphical View of Domain Structure for InterPro Entry P54710

ProtoNet protein and cluster: P54710

1 Blocks protein domain: IPB000272 FXYD protein

UniProtKB/Swiss-Prot: ATNG_HUMAN, P54710

Similarity: Belongs to the FXYD family

FXYD2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ATNG_HUMAN, P54710

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): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	TAS	9048881
GO:0005216	ion channel activity	NAS	--
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	--
GO:0005515	protein binding	--	--

FXYD2 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for FXYD2:

Decreased Hepatitis C virus re

Increased G1 DNA content

Increased gamma-H2AX phosphory

1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Fxyd2):

normal

FXYD2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Fxyd2^tm1Kdr for FXYD2

inGenious Targeting Laboratory - Custom generated mouse model solutions for FXYD2

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FXYD2

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FXYD2

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for FXYD2 About (see all 15)

See pathways by source

SuperPath

Contained pathways About

Insulin secretion

Insulin secretion

0.36

Thyroid hormone synthesis

0.36

Ion channel transport

Ion channel transport

0.49

Ion transport by P-type ATPases

0.32

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Calcium Regulation in the Cardiac Cell

Calcium Regulation in the Cardiac Cell

0.43

Gastric acid secretion

Salivary secretion

0.34

Pathways by source See SuperPaths
Show all pathways

1 BioSystems Pathway for FXYD2

Calcium Regulation in the Cardiac Cell

3 Reactome Pathways for FXYD2

	Transmembrane transport of small molecules
	Ion channel transport
	Ion transport by P-type ATPases

1 PharmGKB Pathway for FXYD2

Diuretics Pathway, Pharmacodynamics

5/12 Kegg Pathways (Kegg details for FXYD2) (see all 12):

	Cardiac muscle contraction
	Insulin secretion
	Thyroid hormone synthesis
	Aldosterone-regulated sodium reabsorption
	Endocrine and other factor-regulated calcium reabsorption

FXYD2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for FXYD2

1 Interacting protein for FXYD2 (P54710³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATP1A1	P05023³	I2D: score=1

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001558	regulation of cell growth	IEA	--
GO:0006810	transport	TAS	9048881
GO:0006811	ion transport	NAS	--
GO:0006813	potassium ion transport	--	--
GO:0006814	sodium ion transport	--	--

FXYD2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FXYD2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FXYD2 (ATNG)

3 HMDB Compounds for FXYD2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Sodium	Sodium (see all 2)	7440-23-5	--

1 DrugBank Compound for FXYD2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Cyclothiazide	Ciclotiazida [INN-Spanish] (see all 3)	2259-96-3	target	inhibitor	17139284 17016423

1 Novoseek inferred chemical compound relationship for FXYD2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
magnesium	44.2	1	19780717 (1)

Search CenterWatch for drugs/clinical trials and news about FXYD2 / ATNG

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FXYD2 gene (3 alternative transcripts):

NM_001680.4 NM_021603.3 NM_001127489.1

Unigene Cluster for FXYD2:

FXYD domain containing ion transport regulator 2

Hs.731865 [show with all ESTs]

Unigene Representative Sequence: BX641053

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000514385 ENST00000532119 ENST00000528014(uc001prk.1) ENST00000292079(uc001prj.2)

ENST00000260287 ENST00000534383 ENST00000533281 ENST00000317594(uc001prl.3)

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Additional mRNA sequence:

AF241236.1 AK096069.1 AK296195.1 BC005302.1 BC013289.1 BT006721.1 BX641053.1 DQ786191.1

U50743.1

8 DOTS entries:

DT.100746918 DT.441277 DT.91744793 DT.86847137 DT.92018615 DT.120713711 DT.95280076 DT.100009363

24/86 AceView cDNA sequences (see all 86):

AK096069 BX095407 AF241236 AL831840 AL697779 BX090833 BX282324 NM_001680

BI761619 BE504423 BG164027 BX641053 BU072194 U50743 BG168993 BM263111

AA366695 BT006721 AA309757 NM_021603 BM142682 BE739066 AW117369 AA329506

GeneLoc Exon Structure

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FXYD2 expression in normal human tissues (normalized intensities) FXYD2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTTATAATAA

About this image

FXYD2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/5 selected tissues (see all 5) fully expand


Kidney (Urinary System) fully expand to see all 2 entries
Presumptive Podocytes Podocyte Layer
"PureStem ES-209, Meso-prx/latp Progenitor"

Adipose (Muscoskeletal System) fully expand to see all 2 entries
Visceral White Adipocytes Visceral White Adipose
Visceral White Adipose

Intermediate Mesoderm (Gastrulation Derivatives)
"PureStem ES-209, Meso-prx/latp Progenitor"

Endothelium (Cardiovascular System)
"PureStem ES-209, Meso-prx/latp Progenitor"

Inner Cell Mass (Early Embryo)
Blimp1- mVenus and stella-ECFP genetically modified stem cells

See FXYD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FXYD2

SOURCE GeneReport for Unigene cluster: Hs.731865

UniProtKB/Swiss-Prot: ATNG_HUMAN, P54710

Tissue specificity: Expressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron

epithelial cells

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In Situ
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(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)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for FXYD2 gene from 1/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fxyd2^{1 , 5}	FXYD domain-containing ion transport regulator 2^{1, 5}	82.54(n)¹ 80.95(a)¹		9 (24.84 cM)⁵ 11936¹ NM_052823.2¹ NP_439888.1¹ 45403138⁵

ENSEMBL Gene Tree for FXYD2 (if available)
TreeFam Gene Tree for FXYD2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FXYD2 gene

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

FXYD6 FXYD7 FXYD1 FXYD6P3 FXYD3

FXYD2 for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28938168^1,2,4	C	Hypomagnesemia 2 (HOMG2)⁴ pathogenic¹	117556740(-)	`TCGTGA/GGGCTC`	4	R G	mis¹		0	--	--	--	--
rs2077275^1,2	C	--	113634461(-)	`AAAAAG/AGGGCT`	1	--	us2k¹ trp³		2		NA WA	4
rs141934920^1,2		--	117553922(+)	`AATAGA/GTGGCC`	2	--	ds500¹		0	--	--	--	--
rs189018473^1,2		--	117553957(+)	`AGCTTA/GGTACC`	2	--	ds500¹		0	--	--	--	--
rs116458702^1,2	F	--	117553958(+)	`GCTTAG/TTACCA`	2	--	ds500¹		1		WA	118
rs115864041^1,2	F	--	117553962(+)	`AGTACC/TAGGAG`	2	--	ds500¹		1		WA	118
rs181734526^1,2		--	117553991(+)	`GGCTCC/TTTCAG`	2	--	ds500¹		0	--	--	--	--
rs11600216^1,2	C,F,H	--	117554001(+)	`GGACAT/CGTGCA`	2	--	ds500¹		19		NS EA NA	2358
rs11600226^1,2	C,F,A,H	--	117554024(+)	`CAGGCT/CCCCCG`	2	--	ds500¹		18		NS EA NA CSA WA	2298
rs588807^1,2	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

SABiosciences Cancer Mutation PCR Assays

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DNA2.0 Custom Variant and Variant Library Synthesis for FXYD2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FXYD2 for disorders           About GeneDecksing

OMIM gene information: 601814
OMIM disorders: 154020
UniProtKB/Swiss-Prot: ATNG_HUMAN, P54710

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

9 diseases for FXYD2: About MalaCards

hypomagnesemia 2, renal glycogen storage disease type 1b bartter disease nephrocalcinosis

pseudohypoaldosteronism renal tubular acidosis glycogen storage disease choroiditis

pancreatitis

1 disease from the University of Copenhagen DISEASES database for FXYD2:

Nephrocalcinosis

1 Novoseek inferred disease relationship for FXYD2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hypomagnesemia	85.4	7	17980699 (2), 19865785 (2), 12584272 (1), 11062458 (1) (see all 5)

Export disorders for FXYD2 gene to outside databases

(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 9 sources (see all 40):
(articles sorted by number of sources associating them with FXYD2)

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Cloning and expression of human cDNA encoding Na+, K(+)-ATPase gamma- subunit. (PubMed id 9048881)^{1, 2, 3} Kim J.W.... Choe I.S. (1997)
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. (2000)
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. (2000)
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. (2004)
Hereditary isolated renal magnesium loss maps to chro mosome 11q23. (PubMed id 9915957)^{1, 3} Meij I.C....Knoers N.V. (1999)
FXYD2 and Na,K-ATPase expression in isolated human pr oximal tubular cells: disturbed upregulation on renal hypomagnesemia? (PubMed id 19865785)^{1, 9} Cairo E.R....Koenderink J.B. (2009)
A genomic-based approach identifies FXYD domain conta ining ion transport regulator 2 (FXYD2)gammaa as a pancreatic beta cell-specifi c biomarker. (PubMed id 20379810)^{1, 9} Flamez D....Eizirik D.L. (2010)
Identification of a crab gill FXYD2 protein and regula tion of crab microsomal Na,K-ATPase activity by mammalian FXYD2 peptide. (PubMed id 22588134)¹ Silva E.C....Fontes C.F. (2012)
HNF-1B specifically regulates the transcription of th e I^a-subunit of the Na+/K+-ATPase. (PubMed id 21130072)¹ FerrA" S....Bindels R.J. (2011)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 486	HGNC: 4026	AceView: FXYD2	Ensembl:ENSG00000137731	euGenes: HUgn486
ECgene: FXYD2	Kegg: 486	H-InvDB: FXYD2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FXYD2	Pharmacogenomics, SNPs, Pathways

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FXYD Domain Containing Ion Transport Regulator 2

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