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FLASH GENE
Symbol GEMIN2 contributors: mct - updated : 23-12-2010
HGNC name gem (nuclear organelle) associated protein 2
HGNC id 10884
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivesalivary gland   highly
Endocrineneuroendocrinepituitary  highly
Lymphoid/Immunelymph node   highly
Nervousspinal cord    
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text spinal cord during early development
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal tail, which is inserted into the pentamer RNA-binding pocket, plays an important role in preventing the Sm pentamer from binding RNAs
  • secondary structure C-terminal domain consists of seven alpha helices
    HOMOLOGY
    interspecies homolog to murine Sip 1
    homolog to C.elegans y53c12b.2
    Homologene
    FAMILY
  • gemin-2 family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies,coiled bodies (Cajal)
    text subnuclear structures next to coiled bodies called gems
    basic FUNCTION
  • playing an essential role in spliceosomal snRNP assembly in the cytoplasm required for pre-mRNA splicing in the nucleus
  • plays an important role in stabilizing the survival of motor neuron complex
  • core protein that is essential for the formation of the SMN complex
  • plays an important role in snRNP assembly through the stabilization of the SMN oligomer/complex via novel self-interaction
  • stabilize functional multimer forms of integrase, thereby promoting the assembly of integrase and reverse transcriptase on viral RNA to allow efficient reverse transcription, which is a prerequisite for efficient HIV-1 infection
  • involved in spliceosome biogenesis
  • enhances the RAD51–DNA complex formation by inhibiting RAD51 dissociation from DNA, and thereby stimulates RAD51-mediated homologous pairing
  • regulates HR (homologous recombination) as a novel RAD51 mediator
  • role in regulating the RAD51 recombinase and thereby promoting HR-dependent repair
  • dual functions: the regulation of spliceosomal snRNP formation and the control of RAD51-dynamics at DNA damage
  • SMN1-GEMIN2 complex plays a role in homologous recombination, in addition to spliceosomal snRNP assembly
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • a core component of the SMN complex because of its association with the amino-terminal side of the SMN protein
  • form a stable RNA-protein complex with several other components, including the GEMIN and SMN proteins
  • SMN1-GEMIN2 complex constitutes part of the large SMN complex, which promotes the assembly of the spliceosomal small nuclear ribonucleoprotein (snRNP)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SMN complex (important for its activity)
  • physically interacts with RAD51 (facilitates the formation of the RAD51–DNA complex, probably by inhibiting the dissociation of RAD51 from damaged DNA sites)
  • binds five Sm proteins (Sm pentamer) and SMN for snRNPs heptameric Sm core biogenesis (SMN-SIP1 interaction is abrogated by a spinal muscular atrophy-causing mutation)
  • cell & other
    REGULATION
    Other coregulated with SMN
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for non-SMN motor neuron disease
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularspinal muscular atrophy 
    enhancing SMN-SIP1 interaction is a potential therapy for SMA
    ANIMAL & CELL MODELS