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FLASH GENE
Symbol BBS12 contributors: mct/npt - updated : 06-07-2009
HGNC name Bardet-Biedl syndrome 12
HGNC id 26648
Corresponding disease
BBS12 Bardet-Biedl syndrome 12
Location 4q27      Physical location : 123.653.856 - 123.666.097
Synonym name chromosome 4 open reading frame 24
Synonym symbol(s) C4orf24, FLJ35630, FLJ41559
DNA
TYPE functioning gene
STRUCTURE 12.24 kb     2 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 3260 79 710 - Marion (2009)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineparathyroid   highly
Hearing/Equilibriumearinnercochlea highly
Reproductivemale systemtestis  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • five specific insertions in the intermediate and equatorial domain
  • one large insertion, In1 (82 aa at position 137)
  • In2 (20 aa at position 241)
  • In3 (25 aa at position 282)
  • In4 (9 aa at position 557)
  • In5 (34 aa at position 612)
  • HOMOLOGY
    intraspecies homolog to BBS10, BBS6
    Homologene
    FAMILY
  • TCP-1 chaperonin family
  • BBS12 subfamily
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • pericentriolar region of basal bodies and centrosomes
  • located within the basal body of this primary cilium (Marion 2009)
  • basic FUNCTION
  • chaperonin-like protein activity
  • required for the localization of G protein-coupled receptors to primary cilia on central neurons
  • mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease (Seo 2009)
  • play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component part of a complex composed of three chaperonin-like BBS proteins (MKKS, BBS10, and BBS12) that are required for BBSome assembly (Seo 2010)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    impairs ciliogenesis, activates the glycogen synthase kinase 3 pathway, and induces peroxisome proliferator-activated receptor nuclear accumulation, hence favoring adipogenesis (Marion 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS