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FLASH GENE
Symbol BAZ2B contributors: mct - updated : 17-03-2012
HGNC name bromodomain adjacent to zinc finger domain, 2B
HGNC id 963
Location 2q24.2      Physical location : 160.175.491 - 160.473.059
Synonym symbol(s) WALp4, FLJ45644, KIAA1476, DKFZp434H071, DKFZp762I0516
DNA
TYPE functioning gene
STRUCTURE 297.57 kb     37 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
LOC391455 2 similar to Acidic ribosomal phosphoprotein P0 LOC220786 2q24.2 cyclin-dependent kinase 7 pseudogene GALNT5 2q24.1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) KIAA1189 2q24.2 KIAA1189 protein PSCDBP 2q11.2 pleckstrin homology, Sec7 and coiled-coil domains, binding protein ACVR1C 2q24-q31 activin A receptor, type IC ACVR1 2q23-q24 activin A receptor, type I UPP2 2q24.2 uridine phosphorylase 2 LOC130940 2q24.2 hypothetical protein BC015395 PKP4 2q23-q31 Plakophilin 4 LOC391456 2 similar to KIAA0181 LOC92196 2q24.2 similar to death-associated protein OR7E89P 2q31.3 olfactory receptor, family 7, subfamily E, member 89 pseudogene LOC391457 2 similar to putative taste receptor HTR2 OR7E90P 2q31.3 olfactory receptor, family 7, subfamily E, member 90 pseudogene MGC23908 2 similar to RNA polymerase B transcription factor 3 KIAA1728 2q24.2 KIAA1728 protein FLJ36175 2q24.2 hypothetical protein FLJ36175 BAZ2B 2q23-q24 bromodomain adjacent to zinc finger domain, 2B AXOT 2q24.2 axotrophin DCL-1 2q24.2 type I transmembrane C-type lectin receptor DCL-1 LY75 2p24 lymphocyte antigen 75 PLA2R1 2q23-q24.1 phospholipase A2 receptor 1, 180kDa ITGB6 2q24-q31 integrin, beta 6 RBMS1 2q24.2 RNA binding motif, single stranded interacting protein 1 TANK 2q24-q31 TRAF family member-associated NFKB activator PSMD14 2q24.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 TBR1 2q24 T-box, brain, 1 LOC285116 2q24.3 ELYS transcription factor-like protein TMBS62 pseudogene LOC391458 2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) SLC4A10 2q23-q24 solute carrier family 4, sodium bicarbonate transporter-like, member 10
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
37 - 8145 240.3 2168 - 2000 10662543
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
Digestivepancreas exocrine   moderately
 pharynx   highly
Endocrineneuroendocrinepituitary  predominantly
Reproductivefemale systemovary  highly
 male systemtestis  moderately
Visualeye   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal WAC domain
  • a receptor interacting domains (LXXLL)
  • a BAZ1 and a BAZ2 domains
  • a WAKZ motif adjacent to a (C4HC3) PHD-type zinc finger motif
  • a C terminal bromodomain, an exclusive protein domain known to recognize acetyl-lysine residues on proteins and might play an important role in chromatin remodeling and gene transcription regulation
  • a DDT domain
  • an MBD (methyl-CpG-binding) domain
    • HOMOLOGY
    interspecies homolog to rattus Baz2b (88.7 pc)
    homolog to murine Baz2b (88.3 pc)
    Homologene
    FAMILY
  • bromodomain genes family
  • WAL family
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • may play a role in transcriptional regulation
    • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • likely component of chromatin remodeling complexes
    • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • interacting with ISWI
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Sudden cardiac death (SCD)
    Variant & Polymorphism other
  • risk allele implicated in prolonged QRS/QT intervals, showing increased risk of SCD
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS