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FLASH GENE
Symbol EXOC2 contributors: mct - updated : 08-06-2021
HGNC name exocyst complex component 2
HGNC id 24968
Corresponding disease
NEDFACH neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
Location 6p25.3      Physical location : 485.138 - 693.109
Synonym name
  • SEC5-like 1 (S. cerevisiae)
  • exocyst complex component Sec5
    • Synonym symbol(s) SEC5L1, FLJ11026, Sec5p, SEC5, NEDFACH
    DNA
    TYPE functioning gene
    STRUCTURE 207.97 kb     28 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 4458 - 924 - 2020 32639540
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • SEC5 family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    text largely confined to the cytoplasm
    basic FUNCTION
  • is a downstream effector of RALA-GTPase which promotes RALA-exocyst interactions and exocyst assembly, serving to tether secretory granules to docking sites on the plasma membrane
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between DELGEF and EXOC2 was found to be dependent on Mg2+ and stimulated by guanosine triphosphate (GTP) or deoxycytidine triphosphate (dCTP)
  • RALA binding to EXOC2 “activates” the Exocyst, and subsequent binding of RALA to EXOC8 “inactivates” the Exocyst for such functions
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDFACH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS