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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FXYD4 Gene

protein-coding   GIFtS: 48
GCID: GC10P043867

FXYD domain containing ion transport regulator 4

(Previous name: FXYD domain-containing ion transport regulator 4 )
 Explore 1 disease affiliated with
FXYD4 via our new
 Human Malady Compendium 
Biological research products
for FXYD4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
FXYD Domain Containing Ion Transport Regulator 41 2
CHIF1 2
FXYD Domain-Containing Ion Transport Regulator 41 2
Channel-Inducing Factor2

External Ids:    HGNC: 40281   Entrez Gene: 538282   Ensembl: ENSG000001502017   UniProtKB: P596463   

Export aliases for FXYD4 gene to outside databases

Previous GC identifers: GC00U990738 GC10M043337 GC10P043642 GC10P043151 GC10P043187 GC10P040393


(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 FXYD4:
This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain,
beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human
gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for
channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the
gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family
members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the
membrane. Alternatively spliced transcript variants encoding the same protein have been found.(provided by RefSeq, May
2010)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_018921.1  NC_000010.10  NT_033985.7  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FXYD4 gene promoter:
         GR   Spz1   Pbx1a   Pax-5   GR-beta   PPAR-alpha   AREB6   GR-alpha   Pax-4a   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFXYD4 promoter sequence
   Search SABiosciences Chromatin IP Primers for FXYD4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FXYD4


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

Entrez Gene cytogenetic band: 10q11.21   Ensembl cytogenetic band:  10q11.21   HGNC cytogenetic band: 10q11.21

FXYD4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FXYD4 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P043867:  view genomic region     (about GC identifiers)

Start:
43,867,090 bp from pter      End:
43,871,783 bp from pter
Size:
4,694 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: FXYD4_HUMAN, P59646 (See protein sequence)
Recommended Name: FXYD domain-containing ion transport regulator 4 precursor  
Size: 89 amino acids; 9373 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Secondary accessions: Q6UWZ1 Q7Z4M5

Explore the universe of human proteins at neXtProt for FXYD4: NX_P59646

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P59646

  • FXYD4 Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins (2 alternative transcripts): 
    NP_001171892.1  NP_775183.1  

    ENSEMBL proteins: 
     ENSP00000363575   ENSP00000388004  
    Reactome Protein details: P59646
    Human Recombinant Protein Products: 
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    Novus Biologicals FXYD4 Lysate
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    Uscn Proteins for FXYD4

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005792microsome ----
    GO:0016021integral to membrane IEA--


    FXYD4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FXYD4


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

    FXYD4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000272 Ion-transport_regulator_FXYD

    Graphical View of Domain Structure for InterPro Entry P59646

    ProtoNet protein and cluster: P59646

    1 Blocks protein family: IPB000272 FXYD protein

    UniProtKB/Swiss-Prot: FXYD4_HUMAN, P59646
    Similarity: Belongs to the FXYD family


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

    miRNA
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    hsa-miR-1914
    SwitchGear 3'UTR luciferase reporter plasmidFXYD4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FXYD4 (see all 7)
    OriGene shRNA RFP: FXYD4
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FXYD4

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005267potassium channel activity IEA--
    GO:0005515protein binding ----
    GO:0051117ATPase binding IEA--


    FXYD4 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for FXYD4:
     Cell cycle / mitosis defect 

    Animal Models:
         Mouse knock-outs for FXYD4: Fxyd4tm1Grt Fxyd4tm1Lex
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fxyd4):
     behavior/neurological  growth/size  homeostasis/metabolism  renal/urinary system 

    FXYD4 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ion channel transport
    Ion channel transport1.00
    Ion transport by P-type ATPases0.32
    2Aldosterone-regulated sodium reabsorption
    Aldosterone-regulated sodium reabsorption1.00
    3SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for FXYD4
        Transmembrane transport of small molecules
    Ion channel transport
    Ion transport by P-type ATPases


    1         Kegg Pathway  (Kegg details for FXYD4):
        Aldosterone-regulated sodium reabsorption


    FXYD4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FXYD4

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0071805potassium ion transmembrane transport ----


    FXYD4 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, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FXYD4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FXYD4
    3 Novoseek chemical compound relationships for FXYD4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 15.9 3 18098352 (1)
    potassium 8 8 10793021 (3)
    sodium 5.19 2 12763861 (2)

    Search CenterWatch for drugs/clinical trials and news about FXYD4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, 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 FXYD4 gene (2 alternative transcripts): 
    NM_001184963.1  NM_173160.2  

    Unigene Cluster for FXYD4:

    FXYD domain containing ion transport regulator 4
    Hs.130497  [show with all ESTs]
    Unigene Representative Sequence: BG426221
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476166 ENST00000374451 ENST00000480834 ENST00000479189 ENST00000458363(uc001jaq.1)


    miRNA
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    OriGene 3'-UTR Clone: FXYD4
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FXYD4
    1 QIAGEN miScript miRNA Assays for microRNA that regulate FXYD4:
    hsa-miR-1914
    SwitchGear 3'UTR luciferase reporter plasmidFXYD4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FXYD4 (see all 7)
    OriGene shRNA RFP: FXYD4
    OriGene siRNA: FXYD4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FXYD4
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FXYD4 (see all 5)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FXYD4 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FXYD4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FXYD4

    Additional cDNA sequence: 

    AY358584.1 BC054876.1 

    2 DOTS entries:

    DT.95358099  DT.102707 

    19 AceView cDNA sequences:

    BX089155 AI003791 NM_173160 AI792356 AI733634 AI733510 BF507928 AI792219 
    AI829935 AY358584 AI050782 BC054876 AI262253 AA759244 BG432244 AI350899 
    AW242333 AI469331 BG426221 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FXYD4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:                                                                  
    SP2:                    -                                             


    ECgene alternative splicing isoforms for FXYD4

    (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

    FXYD4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGAGAGTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    Genevestigator expression for FXYD4

    SOURCE GeneReport for Unigene cluster: Hs.130497
        SABiosciences Custom PCR Arrays for FXYD4
    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FXYD4

    (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 chordates.

    Orthologs for FXYD4 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    48(a)
    1 → many
    GL343276.1(122495-132852)
    zebrafish
    (Danio rerio)
    Actinopterygii fxyd66
    FXYD domain containing ion transport regulator 6
    26(a)
    1 → many
    15(13143100-13188287)


    ENSEMBL Gene Tree for FXYD4 (if available)
    TreeFam Gene Tree for FXYD4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FXYD4 gene
    FXYD32  
    1 SIMAP similar gene for FXYD4 using alignment to 1 protein entry:     FXYD4_HUMAN:
    FXYD3

    FXYD4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/120 NCBI SNPs in FXYD4 are shown (see all 120    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112385251,2
    C,F,--43865183(+) GGAGCG/ACGCCA 2 -- us2k13Minor allele frequency- A:0.33NA 6
    rs1828769081,2
    --43865186(+) GCGCGC/TCACCA 2 -- us2k10--------
    rs1869420171,2
    --43865197(+) CGCCCA/GGCTAA 2 -- us2k10--------
    rs1919165181,2
    --43865247(+) GCCAGA/GCTGGT 2 -- us2k10--------
    rs1409014191,2
    --43865370(+) TGAGCA/GGGCCA 2 -- us2k10--------
    rs1836535071,2
    --43865384(+) TTAACC/TTTTAC 2 -- us2k10--------
    rs1501608871,2
    --43865448(+) GACAGA/GCTAAT 2 -- us2k10--------
    rs1383408771,2
    --43865542(+) AACACC/TGGGAC 2 -- us2k10--------
    rs43223451,2
    C,F,H,--43865547(+) CGGGAC/TGCCTC 2 -- us2k18Minor allele frequency- T:0.04NS EA WA CSA 638
    rs173667811,2
    C,F,H,--43865701(+) CTATAC/TTTTTT 2 -- us2k1 trp318Minor allele frequency- T:0.06NA NS EA WA 2254

    HapMap Linkage Disequilibrium report for FXYD4 (43867090 - 43871783 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FXYD4: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FXYD4
    DNA2.0 Custom Variant and Variant Library Synthesis for FXYD4

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

    FXYD4 for disorders           About GeneDecksing

    1 disease for FXYD4:    About MalaCards
    aldosteronism


    Export disorders for FXYD4 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)
    About This Section

    PubMed articles for FXYD4 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with FXYD4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression. (PubMed id 10950925)1, 2, 3, 9 Sweadner K.J. and Rael E. (2000)
    2. FXYD proteins as regulators of the Na,K-ATPase in the kidney. (PubMed id 12763854)1, 3, 9 Sweadner K.J....Wetzel R.K. (2003)
    3. 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)
    4. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. CHIF, a member of the FXYD protein family, is a regulator of Na,K-ATPase distinct from the gamma-subunit. (PubMed id 11483503)1, 9 Beguin P....Geering K. (2001)
    7. Expression and characterization of the FXYD ion transport regulators for NMR structural studies in lipid micelles and lipid bilayers. (PubMed id 12535606)1 Crowell K.J....Marassi F.M. (2003)
    8. A functional interaction between CHIF and Na-K-ATPase: implication for regulation by FXYD proteins. (PubMed id 12217851)1 Garty H....Karlish S.J. (2002)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Possible molecular basis for changes in potassium handling in acute renal failure. (PubMed id 10793021)9 Rabb H....Soleimani M. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 53828 HGNC: 4028 AceView: FXYD4 Ensembl:ENSG00000150201 euGenes: HUgn53828
    ECgene: FXYD4 Kegg: 53828 H-InvDB: FXYD4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FXYD4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FXYD4 gene:
    Search GeneIP for patents involving FXYD4

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     FXYD4 Proteins, Antibodies, CLIAs, and ELISAs
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FXYD4
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    von Willebrand factor
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