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FLASH GENE
Symbol FXYD6 contributors: mct - updated : 08-02-2011
HGNC name FXYD domain containing ion transport regulator 6
HGNC id 4030
Location 11q23.3      Physical location : 117.707.692 - 117.748.145
Synonym name
  • phosphohippolin
  • DNA
    TYPE functioning gene
    STRUCTURE 40.45 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC196266 11q23.3 similar to Proprotein convertase subtilisin/kexin type 7 precursor (Proprotein convertase PC7) (Subtilisin/kexin-like protease PC7) (Prohormone convertase PC7) (PC8) (hPC8) (Lymphoma proprotein convertase) PAFAH1B2 11q23 platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa CGI-40 11q23.3 CGI-40 protein TAGLN 11q23.2 transgelin PCSK7 11q23 proprotein convertase subtilisin/kexin type 7 DKFZp547C195 11q23.3 hypothetical protein DKFZp547C195 BACE 11q23.2-q23.3 beta-site APP-cleaving enzyme KIAA1052 11q23.3 KIAA1052 protein DSCAML1 11q23 Down syndrome cell adhesion molecule like 1 FXYD2 11q23,3 FXYD domain containing ion transport regulator 2 FXYD6 11q23.3 FXYD domain containing ion transport regulator 6 MSP 11q23 mosaic serine protease IL10RA 11q23.3 interleukin 10 receptor, alpha TMPRSS4 11q23.3 transmembrane protease, serine 4 SCN4B 11q23.3 sodium channel, voltage-gated, type IV, beta SCN2B 11q23 sodium channel, voltage-gated, type II, beta AMICA 11q23.3 adhesion molecule AMICA LOC196264 11q23.3 hypothetical protein LOC196264 EVA1 11q24 epithelial V-like antigen 1 CD3E 11q23.3 CD3E antigen, epsilon polypeptide (TiT3 complex) LOC390254 11 similar to carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5; N-acetylglucosamine 6-O-sulfotransferase; I-GLCNAC-6-ST CD3D 11q23.3 CD3D antigen, delta polypeptide (TiT3 complex) CD3G 11q23.3 CD3G antigen, gamma polypeptide (TiT3 complex) UBE4A 11q23.3 ubiquitination factor E4A (UFD2 homolog, yeast) ATP5L 3q27 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g MGC13053 11q23.3 hypothetical protein MGC13053 MLL 11q23 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) FLJ11783 11q23.3 hypothetical protein FLJ11783
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2057 - 95 - 2000 10950925
    9 - 2133 - 95 - -
    9 - 2154 - 95 - -
    10 - 2230 - 95 - -
    8 - 1749 - 95 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortexfrontal cortexhighly Homo sapiens
     braindiencephalonhypothalamus highly Homo sapiens
     braindiencephalonamygdala highly Homo sapiens
     nerve   highly
    Reproductivefemale systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide
  • a core motif of 35 invariant conserved amino-acid centered on a single transmembrane span
  • 0-glycosylated extracellular domain (Ser-Thr-Pro rich domain)
  • short cytoplasmic tail
  • HOMOLOGY
    Homologene
    FAMILY
  • family of small membrane proteins (FXYD family)
  • CATEGORY regulatory , transport channel
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • involved in the control of ion transport
  • may play an important role in neuronal excitability of the CNS during postnatal development and in the adult brain
  • may play a role in endolymph composition
  • modulates the kinetic activity of Na,K-ATPase and has long-term physiological importance in maintaining cation homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to schizophrenia (SCZD2)
    Variant & Polymorphism SNP (SNP) markers localized within or near the FXYD6 gene showed empirically significant allelic associations with schizophrenia
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS