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FLASH GENE
Symbol TUBGCP2 contributors: mct - updated : 25-11-2019
HGNC name tubulin, gamma complex associated protein 2
HGNC id 18599
Corresponding disease
MCLIS1 microcephaly with lissencephaly 1
Location 10q26.3      Physical location : 135.093.137 - 135.122.644
Synonym name
  • spindle pole body protein Spc97 homolog
  • gamma-ring complex protein 103 kDa
    • spindle pole body protein Spc97 homolog
    Synonym symbol(s) GCP2, Spc97p, SPBC97, ALP4, GCP-2, Grip103, SPC97, h103p, hGCP2, hSpc97, FLJ46573, MGC138162
    DNA
    TYPE functioning gene
    STRUCTURE 33.71 kb     18 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
    17 - 4029 - 772 - 2013 23886939
    18 - 4218 - 902 - 2013 23886939
    19 - 4302 - 930 - 2013 23886939
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an hydrophobic motif is present in the N-terminus
    • HOMOLOGY
    Homologene
    FAMILY GCP family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • necessary for microtublule nucleation at the centrosome
  • is a core component of gamma-tubulin ring complex (gamma-TuRC) in neuronal migrating cells
  • role of TUBGCP2 as an indispensable component of microtubule nucleation with critical functions in neuronal migration
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • TUBGCP2, TUBGCP3 formed complexes with gamma-tubulin in the nucleoli
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • UTP6 N-terminal region indirectly associated with gamma-tubulin through binding with gamma-tubulin complex protein 2 (TUBGCP2) and/or TUBGCP3
  • recognition of gamma-tubulin ring complex integrity is mediated by MZT1, which binds not only to the TUBGCP3 subunit as previously shown, but cooperatively also to other GCPs through a conserved hydrophobic motif present in the N-termini of TUBGCP2, TUBGCP3, TUBGCP5 and TUBGCP6
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCLIS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    caused accumulation of cells in G2/M and mitotic delay but did not affect nucleolar integrity
    tumoral     --over  
    in the expression of TUBGCP2 and TUBGCP3 transcripts in glioblastoma cells versus normal human astrocytes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS