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FLASH GENE

Symbol

DTNB

contributors: mct/npt - updated : 20-05-2016

HGNC name	dystrobrevin, beta
HGNC id	3058

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

constitutive of

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 Nervous brain diencephalon hypothalamus       brain forebrain cerebral cortex     Reproductive female system uterus cervix   highly Respiratory respiratory tract larynx     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a zinc finger ZZ type

HOMOLOGY

intraspecies	paralog to DTNA,significantly
	homolog to dystrophin

Homologene

FAMILY

dystrophin associated complex family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	involved in the formation and stability of synapses
	may play an important role in intracellular signal transduction, in addition to providing a membrane scaffold in muscle
	having a function as a motor protein receptor that might play a major role in the transport of components of the dystrophin-associated protein complex to specific sites in the cell
	role for dystrobrevin as a scaffold protein that may play a role in different cellular processes involving PRKAR1A signaling

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

neurotransmission , signal transduction

a component	copurifying with DP71 and DP140 dystrophins
	component of the dystrophin glycoprotein complex with dystrophin, syntrophins DNTB1

INTERACTION

DNA

RNA

small molecule

protein	bind directly to dystrophin and are components of a transmembrane dystrophin-glycoprotein complex (DGC) that links the cytoskeleton to extracellular proteins in many tissues
	binds to RE-1 and represses the promoter activity of synapsin I, a REST-responsive gene that is a marker for neuronal differentiation
	direct interaction witht HMG20A and HMG20B, suggesting that DTNB may be involved in regulating chromatin dynamics, possibly playing a role in neuronal differentiation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

synaptic and behavioral abnormalities are minimal in mice lacking either Dtna or Dtnb