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FLASH GENE

Symbol

APBA2

contributors: mct - updated : 27-02-2008

HGNC name	amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)
HGNC id	579

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	15q11-q12      Physical location : 29.213.839 - 29.410.514
Synonym name	Munc-18.1 interacting protein 2
	X11-like protein
	adapter protein X11beta
	phosphotyrosine-binding/-interacting domain (PTB)-bearing protein
Synonym symbol(s)	D15S1518E, X11L, MINT2, LIN-10, APB2, D15S1518E, MGC99508

DNA

TYPE	functioning gene
STRUCTURE	196.00 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 14 - 3627 - 749 - Xie (2005)

EXPRESSION

Type	restricted

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 Lymphoid/Immune spleen         Nervous brain           nerve

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	N termnial domain binding Munc18.1
	a phosphotyrosine domain (PID) interacting with the NPXY motif of APP
	two PDZ domains at the C terminus

HOMOLOGY

interspecies

homolog to murine Apba2

intraspecies

homolog to APBA1 ( highly homologous in the C-terminal region )

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

basic FUNCTION	putative function in synaptic exocytosis
	may be important in the physiology of APP family proteins as well as in the regulation of Abeta production

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

can bind to the conserved YENPTY motif in the APP C terminus

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to schizophrenia

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS