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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
Physical map
PPIL1 6p21.1 peptidylprolyl isomerase (cyclophilin)-like 1 C6orf89 6p21.31 chromosome 6 open reading frame 89 PI16 6p21.31 protease inhibitor 16 MTCH1 6pter-p24.1 mitochondrial carrier homolog 1 (C. elegans) FGD2 6p21.2 FGD1 family, member 2 LOC285849 6p21.31 similar to cytochrome c oxidase subunit VIa polypeptide 1 precursor; cytochrome C oxidase subunit VIa homolog LOC389387 6 similar to 60S ribosomal protein L12 PIM1 6p21.2 pim-1 oncogene C6orf128 6p21.31-p21.2 chromosome 6 open reading frame 128 C6orf197 6p21.2 chromosome 6 open reading frame 197 RNF8 6p21.3 ring finger protein (C3HC4 type) 8 KIAA0082 6p21.2 ring finger protein (C3HC4 type) 8 C6orf129 6p21.2 chromosome 6 open reading frame 129 MDGA1 6p21 MAM domain containing glycosylphosphatidylinositol anchor 1 TEX27 6pter-p22.3 testis expressed sequence 27 BTBD9 6p21 BTB (POZ) domain containing 9 GLO1 6p21.1 glyoxalase I DNAH8 6p21 dynein, axonemal, heavy polypeptide 8 GLP1R 6p21 glucagon-like peptide 1 receptor C6orf64 6p21.2 chromosome 6 open reading frame 64 KCNK5 6p21 potassium channel, subfamily K, member 5 KCNK17 6p21.2-p21.1 potassium channel, subfamily K, member 17 KCNK16 6p21.2-p21.1 potassium channel, subfamily K, member 16
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