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FLASH GENE
Symbol SRRM2 contributors: mct - updated : 27-02-2020
HGNC name serine/arginine repetitive matrix 2
HGNC id 16639
Location 16p13.3      Physical location : 2.802.329 - 2.821.411
Synonym name
  • splicing coactivator subunit SRm300
  • RNA binding protein
  • 300 kDa nuclear matrix antigen
  • serine/arginine-rich splicing factor-related nuclear matrix protein
  • of 300 kDa
    Synonym symbol(s) SRL300, SRM300, KIAA0324, CWF21, 300-KD, CWF21, FLJ21926, FLJ22250, MGC40295, DKFZp686O15166
    DNA
    TYPE functioning gene
    STRUCTURE 20.51 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 9379 300 2752 - 1998 9531537
  • SRL300
  • a unique RNA binding region,two large RS domain and many phosphorylation sites
  • - - 7790 252 2296 - 2010 20161708
  • numerous SR dipeptides and two long polyserine domains
  • shorter transcript of SRRM2 was 1.7 fold upregulated in the substantia nigra of Parkinson disease vs controls
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
     thymus    
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
     spinal cord   highly
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a enhancer of microexons' (EMIC) domain, necessary and sufficient for microexon splicing, and functions by interacting with the earliest components required for exon recognition
  • HOMOLOGY
    interspecies homolog to Drosophila cg3961
    homolog to C.elegans y65b4bl.5
    ortholog to yeast Cwc21
    Homologene
    FAMILY
  • splicing factor SR family
  • CWC21 family
  • CATEGORY RNA associated , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • nuclear matrix antigen
  • serine/arginine-repeat protein shown previously to associate with the splicing coactivator and 3prime-end processing stimulatory factor, SRRM1
  • multiple functions for SRRM2 in the splicing process, including an important role in the activation of splicing in association with ISY1
  • potential mechanism whereby SRm300/SRRM2, might influence splice site selection in human cells
  • cellular complexes comprising CACTIN, DHX8 and SRRM2 sustain precise chromosome segregation, genome stability and cell proliferation by allowing faithful splicing of specific pre-mRNAs
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the SRm160/300 complex of nuclear matrix protein
  • is part of the RNA splicing machinery
  • INTERACTION
    DNA
    RNA pre-mRNA dependent on RNU1A and stabilized by RNU2
    small molecule
    protein
  • SRRM1
  • SFRS5
  • three SR-rich proteins were identified that interact with the C-terminus of PNN: SRSF4 and SRRM2, known components of spliceosome machinery, and PNISR
  • CACTIN physically and functionally interacts with the spliceosome-associated factors DHX8 and SRRM2
  • cell & other
    REGULATION
    repressed by PNN, that induces reduced expression of SRRM2
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene strong candidate gene for Parkinson disease
    Marker
    Therapy target
    ANIMAL & CELL MODELS