Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FXYD5 Gene

Aliases for FXYD5 Gene

  • FXYD Domain Containing Ion Transport Regulator 5 2 3 5
  • Dysadherin 2 3 4
  • FXYD Domain-Containing Ion Transport Regulator 5 2 3
  • DYSAD 3 4
  • IWU1 3 4
  • 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 Leukemia, Acute Myeloid. Gene Ontology (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

Additional gene information for FXYD5 Gene

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

Genomics for FXYD5 Gene

GeneHancer (GH) Regulatory Elements for FXYD5 Gene

Promoters and enhancers for FXYD5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I035153 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 411 3 HDGF PKNOX1 SIN3A ZNF2 POLR2B CBX5 ZNF213 ZNF416 ZNF143 ZNF548 FXYD5 TMEM147-AS1 KMT2B HAUS5 LSM14A PROSER3 KIAA0355 ZNF599 ZNF792 ENSG00000267049
GH19I035202 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.9 +50.8 50825 6.1 HDGF PKNOX1 SMAD1 ARNT YBX1 IRF4 POLR2B ZNF766 CBX5 ZNF207 LOC105372379 FXYD5 ZNF599 HAUS5 KIAA0355 ZNF792 TMEM147-AS1 USF2 FAM187B LSR
GH19I035162 Enhancer 1.2 ENCODE dbSUPER 25.6 +10.9 10948 8.1 HDGF PKNOX1 ATF1 NEUROD1 TCF12 ZNF766 GATA2 FOS ATF7 CAVIN1 FXYD5 KIAA0355 LSM14A TMEM147-AS1 ZNF599 HAUS5 FAM187B FXYD3 ZNF792 ENSG00000179066
GH19I035175 Enhancer 0.8 Ensembl ENCODE 21.9 +21.3 21257 1 BHLHE40 NRF1 CEBPB ZNF175 MITF GLIS2 ZBTB48 ZNF747 ZNF599 FXYD5 TMEM147-AS1 HAUS5 SDHAF1 ZNF302 FAM187B ZNF181 FXYD3 HPN-AS1
GH19I035171 Enhancer 0.8 ENCODE dbSUPER 21.3 +17.9 17924 2.5 TAL1 CBFA2T3 FOXA1 GABPA ATF4 CBX1 IKZF1 ZBTB33 SETDB1 MGA GC19P036717 FXYD5 FAM187B FXYD3 HPN-AS1 ENSG00000179066 HAMP DMKN USF2 ENSG00000271049
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FXYD5 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for FXYD5 Gene

Genomic Locations for FXYD5 Gene
chr19:35,154,716-35,169,885
(GRCh38/hg38)
Size:
15,170 bases
Orientation:
Plus strand
chr19:35,645,625-35,660,788
(GRCh37/hg19)

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

Post-translational modifications for FXYD5 Gene

No data available for DME Specific Peptides for FXYD5 Gene

Domains & Families for FXYD5 Gene

Gene Families for FXYD5 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for FXYD5 Gene

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

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.

Phenotypes From GWAS Catalog for FXYD5 Gene

Gene Ontology (GO) - Molecular Function for FXYD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 11756660
GO:0005216 ion channel activity IEA --
GO:0005515 protein binding IPI 20374249
GO:0017080 sodium channel regulator activity IBA --
GO:0045296 cadherin 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

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FXYD5 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FXYD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA,IEA 11756660
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

Gene Ontology (GO) - Biological Process for FXYD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0030033 microvillus assembly NAS 11756660
GO:0034220 ion transmembrane transport IEA --
GO:0046588 negative regulation of calcium-dependent cell-cell adhesion NAS 11756660
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of FXYD5 Gene:

FXYD5

SOURCE GeneReport for Unigene cluster for FXYD5 Gene:

Hs.333418

Evidence on tissue expression from TISSUES for FXYD5 Gene

  • Bone marrow(4.6)
  • Blood(4.4)
  • Pancreas(4.3)
  • Intestine(2.8)
  • Nervous system(2.8)
  • Lymph node(2.6)
  • Spleen(2.6)
  • Lung(2.5)
  • Kidney(2.2)
  • Skin(2.2)
  • Heart(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with FXYD5: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia FXYD5 33 34
  • 98.88 (n)
dog
(Canis familiaris)
Mammalia LOC102156583 33
  • 68.89 (n)
FXYD5 34
  • 51 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FXYD5 33 34
  • 67.26 (n)
rat
(Rattus norvegicus)
Mammalia Fxyd5 33
  • 61.46 (n)
mouse
(Mus musculus)
Mammalia Fxyd5 33 16 34
  • 60.34 (n)
Species where no ortholog for FXYD5 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)
  • 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 Variation AA Info Type
rs386352302 uncertain-significance, not provided 35,160,789(+) A/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000045944 -- 35,156,782(+) G/A intron_variant
rs1000117363 -- 35,158,119(+) C/A intron_variant
rs1000441101 -- 35,169,089(+) T/C intron_variant
rs1000628249 -- 35,167,390(+) ACTT/ intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1774n106 CNV deletion 24896259
dgv636e199 CNV deletion 23128226
dgv6410n54 CNV loss 21841781
esv2758757 CNV loss 17122850
esv3556326 CNV deletion 23714750
nsv2470 CNV deletion 18451855
nsv516540 CNV loss 19592680
nsv579358 CNV loss 21841781
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)

Additional Variant Information for FXYD5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FXYD5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXYD5 Gene

Disorders for FXYD5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • aml
- elite association - COSMIC cancer census association via MalaCards
Search FXYD5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FXYD5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  2. Dysadherin expression in gastrointestinal stromal tumors (GISTs). (PMID: 19217217) Liang JF … Wang HK (Pathology, research and practice 2009) 3 22 58
  3. FXYD5 modulates Na+ absorption and is increased in cystic fibrosis airway epithelia. (PMID: 18263667) Miller TJ … Davis PB (American journal of physiology. Lung cellular and molecular physiology 2008) 3 22 58
  4. Differential expression of dysadherin in papillary thyroid carcinoma and microcarcinoma: correlation with E-cadherin. (PMID: 18677652) Batistatou A … Scopa CD (Endocrine pathology 2008) 3 22 58
  5. Expression of dysadherin and E-cadherin in trophoblastic tissue in normal and abnormal pregnancies. (PMID: 17084448) Batistatou A … Charalabopoulos K (Placenta 2007) 3 22 58

Products for FXYD5 Gene

Sources for FXYD5 Gene

Content
Loading form....