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FLASH GENE

Symbol

AP3B2

contributors: mct/npt - updated : 26-01-2017

HGNC name	adaptor-related protein complex 3, beta 2 subunit
HGNC id	567

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE48 epileptic encephalopathy, early infantile, 48
Location	15q25.2      Physical location : 83.328.033 - 83.378.635
Synonym name	neuronal adaptin-like protein, beta-subunit
	beta3B-adaptin
	clathrin assembly protein complex 3 beta-2 large chain
	neuron-specific vesicle coat protein beta-NAP
Synonym symbol(s)	NAPTB, DKFZp686D17136, beta-NAP

DNA

TYPE	functioning gene
STRUCTURE	50.83 kb     26 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004644 26 - 3771 NP_004635 119 1082 - 2007 17453999 variant 2 - - 1171 - 145 relatively high in brain and testis 2007 17453999 NM_001278512 27 - 3828 NP_001265441 - 1101 - 2007 17453999 NM_001278511 25 - 3675 NP_001265440 - 1050 - 2007 17453999

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 Nervous brain hindbrain cerebellum       brain diencephalon hypothalamus

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

conjugated

PhosphoP

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	homolog to murine Ap3B2
	homolog to Drosophila rb
	homolog to C.elegans R11A5.1b

Homologene

FAMILY

adaptor complexes large subunits family

CATEGORY

adaptor , antigen , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
text	secretory vesicle membrane
	Golgi region and peripheral structures

basic FUNCTION	acting in protein transport between neuron cell body and axon
	facilitating the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	vesicle transport (post Golgi)
	secretory vesicle

PATHWAY

metabolism

signaling

a component

component of the AP-3 complex composed of two large chains (delta and beta 3), a medium chain (MU3) and a small chain (sigma 3)

INTERACTION

DNA

RNA

small molecule

protein

EPB41L2 binds to the AP3B2 protein, which is involved in neuronal membrane trafficking, and promotes neurite extension in an AP3B2-dependent manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE48

Susceptibility

to severe chronic periodontitis

Variant & Polymorphism SNP	rs11631963-rs11637433 are associated to severe chronic periodontitis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS