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Aliases for FXYD5 Gene

Aliases for FXYD5 Gene

  • FXYD Domain Containing Ion Transport Regulator 5 2 3 5
  • Dysadherin 2 3 4
  • DYSAD 3 4
  • IWU1 3 4
  • FXYD Domain-Containing Ion Transport Regulator 5 2
  • Keratinocytes Associated Transmembrane Protein 1 3
  • HSPC113 3
  • PRO6241 3
  • KCT1 3
  • OIT2 3
  • RIC 3

External Ids for FXYD5 Gene

Previous GeneCards Identifiers for FXYD5 Gene

  • GC19P036263
  • GC19P036094
  • GC19P040321
  • GC19P040337
  • GC19P035645
  • GC19P032154

Summaries for FXYD5 Gene

Entrez Gene Summary for FXYD5 Gene

  • 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. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]

GeneCards Summary for FXYD5 Gene

FXYD5 (FXYD Domain Containing Ion Transport Regulator 5) is a Protein Coding gene. Diseases associated with FXYD5 include Intracranial Hypotension. GO annotations related to this gene include actin binding and sodium channel regulator activity.

UniProtKB/Swiss-Prot for FXYD5 Gene

  • Involved in down-regulation of E-cadherin which results in reduced cell adhesion. Promotes metastasis.

Gene Wiki entry for FXYD5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FXYD5 Gene

Genomics for FXYD5 Gene

Regulatory Elements for FXYD5 Gene

Enhancers for FXYD5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FXYD5 on UCSC Golden Path with GeneCards custom track

Promoters for FXYD5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FXYD5 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FXYD5 gene promoter:

Genomic Location for FXYD5 Gene

Chromosome:
19
Start:
35,154,716 bp from pter
End:
35,169,885 bp from pter
Size:
15,170 bases
Orientation:
Plus strand

Genomic View for FXYD5 Gene

Genes around FXYD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FXYD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FXYD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXYD5 Gene

Proteins for FXYD5 Gene

  • Protein details for FXYD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DB9-FXYD5_HUMAN
    Recommended name:
    FXYD domain-containing ion transport regulator 5
    Protein Accession:
    Q96DB9
    Secondary Accessions:
    • B7WNZ8
    • Q6UW44
    • Q9HC34
    • Q9P039

    Protein attributes for FXYD5 Gene

    Size:
    178 amino acids
    Molecular mass:
    19472 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FXYD5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FXYD5 Gene

Proteomics data for FXYD5 Gene at MOPED

Post-translational modifications for FXYD5 Gene

No data available for DME Specific Peptides for FXYD5 Gene

Domains & Families for FXYD5 Gene

Protein Domains for FXYD5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FXYD5 Gene

Graphical View of Domain Structure for InterPro Entry

Q96DB9

UniProtKB/Swiss-Prot:

FXYD5_HUMAN :
  • Belongs to the FXYD family.
Family:
  • Belongs to the FXYD family.
genes like me logo Genes that share domains with FXYD5: view

No data available for Gene Families for FXYD5 Gene

Function for FXYD5 Gene

Molecular function for FXYD5 Gene

UniProtKB/Swiss-Prot Function:
Involved in down-regulation of E-cadherin which results in reduced cell adhesion. Promotes metastasis.

Gene Ontology (GO) - Molecular Function for FXYD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 11756660
genes like me logo Genes that share ontologies with FXYD5: view
genes like me logo Genes that share phenotypes with FXYD5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for FXYD5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FXYD5 Gene

Localization for FXYD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXYD5 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FXYD5 Gene COMPARTMENTS Subcellular localization image for FXYD5 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
extracellular 2
cytoskeleton 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for FXYD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FXYD5: view

Pathways & Interactions for FXYD5 Gene

SuperPathways for FXYD5 Gene

No Data Available

Interacting Proteins for FXYD5 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000344254%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000344254 for FXYD5 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for FXYD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046588 negative regulation of calcium-dependent cell-cell adhesion NAS 11756660
GO:2000649 regulation of sodium ion transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with FXYD5: view

No data available for Pathways by source and SIGNOR curated interactions for FXYD5 Gene

Drugs & Compounds for FXYD5 Gene

No Compound Related Data Available

Transcripts for FXYD5 Gene

Unigene Clusters for FXYD5 Gene

FXYD domain containing ion transport regulator 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FXYD5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - -
SP4: - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - - - - - -
SP10: -
SP11: - - - - - -
SP12: - -

Relevant External Links for FXYD5 Gene

GeneLoc Exon Structure for
FXYD5
ECgene alternative splicing isoforms for
FXYD5

Expression for FXYD5 Gene

mRNA expression in normal human tissues for FXYD5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FXYD5 Gene

This gene is overexpressed in Whole Blood (x10.8).

SOURCE GeneReport for Unigene cluster for FXYD5 Gene Hs.333418

genes like me logo Genes that share expression patterns with FXYD5: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for FXYD5 Gene

Orthologs for FXYD5 Gene

This gene was present in the common ancestor of mammals.

Orthologs for FXYD5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FXYD5 35
  • 67.26 (n)
  • 56.21 (a)
FXYD5 36
  • 54 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC102156583 35
  • 68.89 (n)
  • 60.95 (a)
FXYD5 36
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fxyd5 35
  • 60.34 (n)
  • 48.85 (a)
Fxyd5 16
Fxyd5 36
  • 49 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FXYD5 35
  • 98.88 (n)
  • 98.31 (a)
FXYD5 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fxyd5 35
  • 61.46 (n)
  • 47.4 (a)
Species with no ortholog for FXYD5:
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for FXYD5 Gene

ENSEMBL:
Gene Tree for FXYD5 (if available)
TreeFam:
Gene Tree for FXYD5 (if available)

Paralogs for FXYD5 Gene

(3) SIMAP similar genes for FXYD5 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FXYD5: view

No data available for Paralogs for FXYD5 Gene

Variants for FXYD5 Gene

Sequence variations from dbSNP and Humsavar for FXYD5 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1688005 - 35,157,462(+) CAGAC(A/G/T)CAACT nc-transcript-variant, reference, missense
rs12110 - 35,169,605(+) GAATC(A/G)TTGCA nc-transcript-variant, downstream-variant-500B, reference, missense
rs12978479 -- 35,168,476(+) TGAGC(C/T)GCGCC intron-variant, utr-variant-3-prime
rs12980125 -- 35,157,090(+) tcaga(G/T)aaagg intron-variant
rs12980648 -- 35,157,361(+) AGGGC(A/G)GGGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FXYD5 Gene

Variant ID Type Subtype PubMed ID
dgv3849n71 CNV Loss 21882294
essv510 CNV CNV 17122850
esv1374 CNV CNV 17122850
nsv2470 CNV Loss 18451855
dgv1075e1 CNV Complex 17122850
dgv1076e1 CNV Complex 17122850
dgv636e199 CNV Deletion 23128226
nsv516540 CNV Loss 19592680
nsv9709 CNV Loss 18304495

Variation tolerance for FXYD5 Gene

Residual Variation Intolerance Score: 69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.27; 70.30% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for FXYD5 Gene

Disorders for FXYD5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FXYD5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
intracranial hypotension
- elite association - COSMIC cancer census association via MalaCards
Search FXYD5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FXYD5

Genetic Association Database (GAD)
FXYD5
Human Genome Epidemiology (HuGE) Navigator
FXYD5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FXYD5
genes like me logo Genes that share disorders with FXYD5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FXYD5 Gene

Publications for FXYD5 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48 67
  2. Dysadherin expression in gastrointestinal stromal tumors (GISTs). (PMID: 19217217) Liang J.F. … Wang H.K. (Pathol. Res. Pract. 2009) 3 23
  3. FXYD5 modulates Na+ absorption and is increased in cystic fibrosis airway epithelia. (PMID: 18263667) Miller T.J. … Davis P.B. (Am. J. Physiol. Lung Cell Mol. Physiol. 2008) 3 23
  4. Differential expression of dysadherin in papillary thyroid carcinoma and microcarcinoma: correlation with E-cadherin. (PMID: 18677652) Batistatou A. … Scopa C.D. (Endocr. Pathol. 2008) 3 23
  5. Expression of dysadherin and E-cadherin in trophoblastic tissue in normal and abnormal pregnancies. (PMID: 17084448) Batistatou A. … Charalabopoulos K. (Placenta 2007) 3 23

Products for FXYD5 Gene

Sources for FXYD5 Gene

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