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FLASH GENE

Symbol

AP2B1

contributors: - updated : 20-05-2006

HGNC name	adaptor-related protein complex 2, beta 1 subunit
HGNC id	563

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	17q11.2-q12      Physical location : 33.914.281 - 34.053.433
Synonym name	adaptin,beta 2
	clathrin-associated/assembly/adaptor protein, large, beta 1
	plasma membrane adaptor HA2/AP2 adaptin beta subunit
Synonym symbol(s)	ADTB2, CLAPB1, AP105B, AP2-BETA

DNA

TYPE	functioning gene
STRUCTURE	139.00 kb     21 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 V1 - - 5772 - 951 - Rappoport V2 - - 5730 - 937 - Rappoport

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       highly Reproductive male system testis     highly Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two globular adaptin domains interconnected by a variable and potentially flexible stalk domain

mono polymer

heteromer , tetramer

HOMOLOGY

Homologene

FAMILY

adaptor complexes large subunits complex

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	cytoplasmic face of clathrin coated vesicles

basic FUNCTION	potentially mediating rapid internalization
	playing a major role in clathrin coat formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component	component of assembly protein complex AP-2, clathrin coat assembly complex linking clathrin to receptors in coated pits and vesicles
	heterotetramer composed of two large chains (alpha and beta),a medium chain (AP50) and a small chain (AP17)

INTERACTION

DNA

RNA

small molecule

protein

interacting with both cargo and clathrin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in gastric cancer

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS