Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RIMS2 contributors: mct - updated : 01-09-2020
HGNC name regulating synaptic membrane exocytosis 2
HGNC id 17283
Corresponding disease
CRSDS cone-rod synaptic disorder syndrome, congenital nonprogressive
Location 8q22.3      Physical location : 104.512.975 - 105.265.451
Synonym name
  • RAB3 interacting protein 3
  • non-small cell lung cancer RimL3a protein
    • Synonym symbol(s) OBOE, RIM2, RAB3IP3, KIAA0751, NIM2, DKFZp781A0653
    DNA
    TYPE functioning gene
    STRUCTURE 753.68 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 8601 - 1349 brain retina pancreas 2020 32470375
    RIMS2A
    22 - 8054 - 1163 in brain, retina, pancreas and fibroblasts 2020 32470375
    RIMS2Beta
    25 - 8772 - 1406 brain, retina ,pancreas, fibroblasts 2020 32470375
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
     pancreas   highly Homo sapiens
    Hearing/Equilibriumear   highly
    Nervousbrain   highly
    Reproductivefemale systemovary   
     male systemtestis   
    Visualeyeretina  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    NervousPurkinje cell Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal zinc finger, ligand of 14-3-3 proteins, binding to RAB3 as a function of GTP
  • two C-terminal C2 domain, rabphilin-3A effector domain
  • a central PDZ domain
  • three C terminal SAM domains
    • HOMOLOGY
    interspecies homolog to murine Rabphilin 3A
    intraspecies homolog to RIMS1
    Homologene
    FAMILY RIM family of active zone proteins
    CATEGORY chaperone/stress , regulatory , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytoskeleton
    text
  • synaptic
  • mitochondrial carrier protein
    • basic FUNCTION
  • integrating active zone proteins and synaptic vesicles into a molecular scaffold that controls neurotransmitters release
  • regulating vesicle exocytosis during short-term plasticity
  • RIMS1 and RIMS2 are multidomain active zone proteins of presynaptic terminals
  • RIMS1 and RIMS2 are not essential for synapse formation or synaptic exocytosis, but are required for normal Ca(2+)-triggering of exocytosis
  • component of the presynaptic active zone and modulator of exocytosis
  • piccolo, RIMS2, RIMS3, are involved in the neurobiology of schizophrenia
  • determines docking and priming states in insulin granule exocytosis
  • RIMS1, and RIMS2 co-ordinately regulate key functions for fast transmitter release, enabling a high presynaptic CaČ+ channel density and vesicle docking at the presynaptic active zone
  • mediate pyrimidine exchange in and out of vesicles
  • is a pyrimidine exchanger with an additional unique function in promoting mitochondrial iron utilization
  • plays an important role in maintaining the normal synaptic connection at the ribbon synapse of the photoreceptors
  • role of RIMS2 in regulating synaptic membrane exocytosis in the brain, pancreas, and photoreceptors
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAB3A
  • interacting with RIMBP2 and BZRAP1
  • contributes to the stabilization of CACNA1D gating kinetics in immature cochlear inner hair cell
  • PNKD interacts with synaptic active zone proteins Rab3-interacting molecule (RIMS1) and RIMS2, localizes to synapses, and modulates neurotransmitter release
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CRSDS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS