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FLASH GENE
Symbol TMEM94 contributors: mct - updated : 03-01-2019
HGNC name transmembrane protein 94
HGNC id 28983
Corresponding disease
MRSHFD mental retardation, heart and facial defect
Location 17q25.1      Physical location : -
Synonym name
  • KIAA0195
  • hypothetical protein LOC9772
  • Synonym symbol(s) DKFZp781M1056, FLJ37545, KIAA0195
    DNA
    TYPE functioning gene
    STRUCTURE 59.29 kb     32 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    32 - 5591 151 1356 - 2018 30526868
    32 - 5603 - 1360 - 2018 30526868
    32 - 5543 - 1340 - 2018 30526868
    31 - 5419 - 1366 - 2018 30526868
    31 - 5416 - 1365 - 2018 30526868
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • multi pass membrane domains and several serine residues for phosphorylation or glycosylation
  • C-terminal region of TMEM94 is evolutionary conserved in multiple mammalian species
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to mouse Tmem94
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • hydrolase activity
  • role of TMEM94 in early development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
  • possible interaction with cyclin dependent kinase 5 (CDK5), FIBP, in human embryonic kidney cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRSHFD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Loss of Tmem94 in mice leads to an embryonic lethal phenotype and abnormalities in multiple tissues, including nervous and cardiovascular systems