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FLASH GENE
Symbol EFTUD2 contributors: mct - updated : 18-02-2015
HGNC name elongation factor Tu GTP binding domain containing 2
HGNC id 30858
Corresponding disease
MFDM mandibulofacial dysostosis with microcephaly
Location 17q21.31      Physical location : 42.927.654 - 42.976.993
Synonym name
  • U5 snRNP-specific protein, 116 kD
  • 116 kDa U5 small nuclear ribonucleoprotein component
  • SNU114 homolog
  • U5 snRNP specific protein, 116 kD
  • Synonym symbol(s) KIAA0031, U5-116KD, Snrp116, Snu114
    DNA
    TYPE functioning gene
    STRUCTURE 49.34 kb     28 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 4058 116 937 - 1997 9233818
    28 - 4167 - 972 - 1997 9233818
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Lymphoid/Immunespleen   moderately
     thymus   highly
    Reproductivefemale systemuteruscervix highly
     female systemovary  moderately
    Respiratorylung   moderately
     respiratory tractlarynx  moderately
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Snrp116
    ortholog to C.elegans eft-1
    ortholog to xenopus snrp116
    Homologene
    FAMILY
  • GTP-binding elongation factor family
  • EF-G/EF-2 subfamily
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • required for pre-mRNA splicing
  • acting as a translational elongation factor
  • CELLULAR PROCESS nucleotide, RNA splicing
    protein, translation/synthesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the U5 snRNP complex
  • spliceosome complex
  • pre-mRNA splicing factor PRPF8 is a crucial component of the U5 snRNP, and together with EFTUD2 and SNRNP200, it forms a central module of the spliceosome
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MFDM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS