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FLASH GENE
Symbol BTBD9 contributors: mct - updated : 23-05-2012
HGNC name BTB (POZ) domain containing 9
HGNC id 21228
Location 6p21.2      Physical location : 38.136.227 - 38.607.924
Synonym name BTB domain containing 9
Synonym symbol(s) KIAA1880, dJ322I12.1, FLJ32945, MGC120517, MGC120519, MGC120520
DNA
TYPE functioning gene
STRUCTURE 471.70 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text Variants 1 and 2 encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 8967 69 612 - 2012 22536397
11 - 8767 69 612 - 2012 22536397
10 - 8504 61.4 544 - 2012 22536397
11 - 8639 - 582 - 2012 22536397
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a BTB/POZ domain
  • a BACK domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • potentially involved in regulating synaptic plasticity and memory
  • BTBD9, CRLF3, and SSBP3 regulate likely neuronal morphology and the biogenesis/transport of synaptic vesicles
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to restless legs syndrome (see RLLS6), in end stage renal disease
  • to Tourette syndrome (TS)
  • Variant & Polymorphism SNP
  • significant association between RLS and 2 SNPs (rs9296249 and rs9357271) in BTBD9
  • variants in BTBD9 associated with TS, particularly TS without obsessive-compulsive disorder
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS