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FLASH GENE
Symbol GEMIN8 contributors: mct - updated : 11-02-2017
HGNC name gem (nuclear organelle) associated protein 8
HGNC id 26044
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivesalivary gland   predominantly
Endocrineparathyroid    
cell lineage
cell lines
fluid/secretion lymph
at STAGE
physiological period embryo
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , complex
HOMOLOGY
interspecies homolog to rattus FAM51A1 (69.9pc)
Homologene
FAMILY
CATEGORY chaperone/stress
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus,nucleoplasm
basic FUNCTION
  • involved in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs)
  • GEMIN4 and GEMIN8 orthologues are required for neuromuscular function and survival
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming an heteromeric subunit of the SMN complex in association with Gemin6-Gemin7 heterodimer
  • integral component of the SMN complex and extend the repertoire of cellular proteins involved in the pathway of snRNP biogenesis
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SMN complex and its component GEMIN8 interact directly with protein phosphatase PPP1CC
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularspinal muscular atrophy 
    GEMIN8 interaction with PPP1CC is a target for therapeutic intervention in SMA
    ANIMAL & CELL MODELS