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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
Location 14q21.1      Physical location : -
Synonym name
  • component of gems 2
  • SMN interacting protein 1-delta
  • survival of motor neuron protein interacting protein 1
  • Synonym symbol(s) SIP1, SIP1-delta
    DNA
    TYPE functioning gene
    STRUCTURE 22.69 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D14S70 - D14S988 - TTF1 ,D14S75 - SIP1 - D14S1039 - D14S288 - D14S259 - D14S269 - D14S978 - D14S281 - qter
    RNA
    TRANSCRIPTS type messenger
    text five transcription isoforms (HELMKEN)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 1368 31.6 280 - 2007 17308308
    also called variant alpha
    9 splicing 1323 29.9 265 - 2007 17308308
  • also called variant beta
  • increased expression in motor neuron disease
  • 9 - 1309 - 250 - 2007 17308308
    also called variant gamma
    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