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Aliases for FXYD6 Gene

Aliases for FXYD6 Gene

  • FXYD Domain Containing Ion Transport Regulator 6 2 3 5
  • Phosphohippolin 2 3 4
  • FXYD Domain-Containing Ion Transport Regulator 6 2 3

External Ids for FXYD6 Gene

Previous GeneCards Identifiers for FXYD6 Gene

  • GC11M120064
  • GC11M119219
  • GC11M117741
  • GC11M117245
  • GC11M117212
  • GC11M113641

Summaries for FXYD6 Gene

Entrez Gene Summary for FXYD6 Gene

  • This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011]

GeneCards Summary for FXYD6 Gene

FXYD6 (FXYD Domain Containing Ion Transport Regulator 6) is a Protein Coding gene. Diseases associated with FXYD6 include Psychotic Disorder and Schizophrenia. Among its related pathways are Ion channel transport and Cardiac conduction. GO annotations related to this gene include ion channel activity and sodium channel regulator activity. An important paralog of this gene is FXYD6-FXYD2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FXYD6 Gene

Genomics for FXYD6 Gene

Regulatory Elements for FXYD6 Gene

Enhancers for FXYD6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F117872 1.2 FANTOM5 ENCODE 17.6 +2.2 2164 6.2 ZNF76 BMI1 ZNF366 SCRT2 RCOR1 CREM THAP11 EGR2 ZNF263 REST FXYD6 DSCAML1 ENSG00000254528 SCN4B SCN2B FXYD6-FXYD2
GH11F117814 1.7 FANTOM5 Ensembl ENCODE 11.1 +60.1 60103 6.8 HDGF PKNOX1 ARNT WRNIP1 ZFP64 ARID4B YBX1 ZNF2 GLIS2 ZNF143 IL10RA DSCAML1 FXYD2 LOC653303 FXYD6-FXYD2 FXYD6 RNF214 TMPRSS13 CEP164 TMEM25
GH11F117997 1.8 FANTOM5 Ensembl ENCODE 10.4 -129.6 -129572 19.5 HDGF PKNOX1 CREB3L1 WRNIP1 YBX1 ZNF143 ZNF207 FOS ZNF263 SP3 IL10RA PCSK7 ENSG00000254528 LOC101929133 CCDC84 IFT46 LOC653303 FXYD2 TMPRSS13 FXYD6
GH11F117948 1.5 FANTOM5 Ensembl ENCODE 11 -74.1 -74064 5.9 PKNOX1 TBL1XR1 ARID4B RAD21 GLIS2 GATA2 SCRT2 ZNF143 ZNF263 ZNF654 IL10RA TMPRSS13 CD3E CD3G DSCAML1 ENSG00000254844 FXYD6 FXYD6-FXYD2 ENSG00000254528 FXYD2
GH11F117944 1.5 FANTOM5 Ensembl ENCODE 11 -67.7 -67651 1.3 ELF3 HDGF PKNOX1 ZFP64 KLF17 ZBTB40 GLIS2 GATA2 SCRT2 ZNF207 IL10RA ENSG00000254844 DSCAML1 ENSG00000254528 FXYD2 FXYD6 FXYD6-FXYD2 GC11P117950 GC11M117924
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FXYD6 on UCSC Golden Path with GeneCards custom track

Promoters for FXYD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001573974 1086 1601 KLF1 MAX BMI1 HIC1 ZFHX2 SCRT2 PRDM10 KLF8 EZH2 EGR2

Genomic Location for FXYD6 Gene

Chromosome:
11
Start:
117,836,976 bp from pter
End:
117,877,486 bp from pter
Size:
40,511 bases
Orientation:
Minus strand

Genomic View for FXYD6 Gene

Genes around FXYD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FXYD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FXYD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXYD6 Gene

Proteins for FXYD6 Gene

  • Protein details for FXYD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0Q3-FXYD6_HUMAN
    Recommended name:
    FXYD domain-containing ion transport regulator 6
    Protein Accession:
    Q9H0Q3
    Secondary Accessions:
    • A8K0R4
    • J3QLD2
    • Q6FIG9
    • Q6UW52

    Protein attributes for FXYD6 Gene

    Size:
    95 amino acids
    Molecular mass:
    10542 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ89335.1; Type=Frameshift; Positions=93; Evidence={ECO:0000305};

    Alternative splice isoforms for FXYD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FXYD6 Gene

Post-translational modifications for FXYD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FXYD6 Gene

Domains & Families for FXYD6 Gene

Protein Domains for FXYD6 Gene

Suggested Antigen Peptide Sequences for FXYD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0Q3

UniProtKB/Swiss-Prot:

FXYD6_HUMAN :
  • Belongs to the FXYD family.
Family:
  • Belongs to the FXYD family.
genes like me logo Genes that share domains with FXYD6: view

No data available for Gene Families for FXYD6 Gene

Function for FXYD6 Gene

Gene Ontology (GO) - Molecular Function for FXYD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005216 ion channel activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FXYD6: view

Phenotypes for FXYD6 Gene

genes like me logo Genes that share phenotypes with FXYD6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for FXYD6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FXYD6 Gene

Localization for FXYD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXYD6 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 FXYD6 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for FXYD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FXYD6: view

Pathways & Interactions for FXYD6 Gene

genes like me logo Genes that share pathways with FXYD6: view

Pathways by source for FXYD6 Gene

Gene Ontology (GO) - Biological Process for FXYD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0008150 biological_process ND --
GO:0034220 ion transmembrane transport TAS --
GO:1903779 regulation of cardiac conduction TAS --
genes like me logo Genes that share ontologies with FXYD6: view

No data available for SIGNOR curated interactions for FXYD6 Gene

Transcripts for FXYD6 Gene

Unigene Clusters for FXYD6 Gene

FXYD domain containing ion transport regulator 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FXYD6 Gene

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

Relevant External Links for FXYD6 Gene

GeneLoc Exon Structure for
FXYD6
ECgene alternative splicing isoforms for
FXYD6

Expression for FXYD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FXYD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FXYD6 Gene

This gene is overexpressed in Brain - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for FXYD6 Gene

This gene is overexpressed in Brain (36.9), Frontal cortex (17.5), and Fetal Brain (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FXYD6 Gene



Protein tissue co-expression partners for FXYD6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FXYD6 Gene:

FXYD6

SOURCE GeneReport for Unigene cluster for FXYD6 Gene:

Hs.744850
genes like me logo Genes that share expression patterns with FXYD6: view

No data available for mRNA Expression by UniProt/SwissProt for FXYD6 Gene

Orthologs for FXYD6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FXYD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FXYD6 34 35
  • 99.3 (n)
rat
(Rattus norvegicus)
Mammalia Fxyd6 34
  • 88.3 (n)
dog
(Canis familiaris)
Mammalia FXYD6 34 35
  • 87.94 (n)
mouse
(Mus musculus)
Mammalia Fxyd6 34 16 35
  • 87.23 (n)
cow
(Bos Taurus)
Mammalia FXYD6 34 35
  • 87.02 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves FXYD6 34 35
  • 75.44 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fxyd6 34
  • 67.03 (n)
zebrafish
(Danio rerio)
Actinopterygii fxyd6 34 35
  • 67.02 (n)
wufi25c12 34
Species where no ortholog for FXYD6 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FXYD6 Gene

ENSEMBL:
Gene Tree for FXYD6 (if available)
TreeFam:
Gene Tree for FXYD6 (if available)

Paralogs for FXYD6 Gene

Paralogs for FXYD6 Gene

(6) SIMAP similar genes for FXYD6 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for FXYD6 Gene

genes like me logo Genes that share paralogs with FXYD6: view

Variants for FXYD6 Gene

Sequence variations from dbSNP and Humsavar for FXYD6 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1006158 -- 117,868,671(+) TGTAC(C/G/T)AATAT intron-variant
rs1006159 -- 117,868,771(+) tacaa(G/T)ctgcc intron-variant
rs1006160 -- 117,868,901(+) CACCT(A/T)TCCGG intron-variant
rs1042978 -- 117,837,820(-) AAGAG(C/G)ACGGG intron-variant, utr-variant-3-prime
rs1042980 -- 117,837,619(-) ATGCC(C/T)TTCCG intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FXYD6 Gene

Variant ID Type Subtype PubMed ID
esv2761714 CNV loss 21179565
esv3627861 CNV loss 21293372
nsv526267 CNV loss 19592680
nsv556460 CNV gain 21841781

Variation tolerance for FXYD6 Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.05; 1.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FXYD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FXYD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXYD6 Gene

Disorders for FXYD6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FXYD6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
psychotic disorder
  • mental or behavioural disorder
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search FXYD6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FXYD6_HUMAN
  • Schizophrenia 2 (SCZD2) [MIM:603342]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269 PubMed:17357072}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for FXYD6

Genetic Association Database (GAD)
FXYD6
Human Genome Epidemiology (HuGE) Navigator
FXYD6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FXYD6
genes like me logo Genes that share disorders with FXYD6: view

No data available for Genatlas for FXYD6 Gene

Publications for FXYD6 Gene

  1. A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia. (PMID: 17357072) Choudhury K. … Gurling H.M.D. (Am. J. Hum. Genet. 2007) 3 4 22 46 64
  2. A genetic association study of the FXYD domain containing ion transport regulator 6 (FXYD6) gene, encoding phosphohippolin, in susceptibility to schizophrenia in a Japanese population. (PMID: 18455306) Ito Y. … Ozaki N. (Neurosci. Lett. 2008) 3 22 46 64
  3. A novel replicated association between FXYD6 gene and schizophrenia. (PMID: 21216238) Zhong N. … Ma J. (Biochem. Biophys. Res. Commun. 2011) 3 46 64
  4. No association between the FXYD6 gene and schizophrenia in the Chinese Han population. (PMID: 20149392) Zhang J. … He G. (J Psychiatr Res 2010) 3 46 64
  5. Failure to confirm genetic association of the FXYD6 gene with schizophrenia: the Japanese population and meta-analysis. (PMID: 20468077) Iwata Y. … Yoshikawa T. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64

Products for FXYD6 Gene

Sources for FXYD6 Gene

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