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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_013450 37 - 8145 240.3 2168 - 2000 10662543

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Homo sapiens Digestive pancreas exocrine       moderately   pharynx       highly Endocrine neuroendocrine pituitary     predominantly Reproductive female system ovary     highly   male system testis     moderately Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna 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