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FLASH GENE

Symbol

ABCA2

contributors: - updated : 25-11-2005

HGNC name	ATP-binding cassette, sub-family A (ABC1), member 2
HGNC id	32

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	9q34.3      Physical location : 139.901.685 - 139.923.374
Synonym name	murine ATP binding cassette transporter 2
Synonym symbol(s)	ABC2, KIAA1062

DNA

TYPE	functioning gene
STRUCTURE	3.00 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	transcription factor binding sites
	two first exons (1B that located 699 bp upstream of the previously characterized first exon, 1A), alterantively spliced

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	for exon 1B, the new amino terminus encoded by the first exon is 52 amino acids and for exon 1A, 22 amino acids

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed V1 - splicing 8172 - 2436 - Ile exon 1A co-localize with lysosome-associated membrane proteins-1 and -2 (LAMP-1 and -2) V2 - splicing 8164 - 2466 highest expression in peripheral blood leukocytes Ile exon 1B co-localize with lysosome-associated membrane proteins-1 and -2 (LAMP-1 and -2)

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 blood / hematopoietic spleen       moderately Cardiovascular heart       moderately Endocrine pancreas       moderately Nervous brain       highly Reproductive male system prostate     moderately Respiratory lung       moderately Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Lymphoid

cell lineage
cell lines	tumor cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two ATP binding
	two transmembrane (2TM) domains (2 x 6 segments)
	lipocalin signature motif

HOMOLOGY

interspecies

homolog to murine Abc2

intraspecies

homolog to ABCA1,ABCA7

Homologene

FAMILY

ATP binding cassette superfamily, subfamily A

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

ABC transporter, traffic ATPase, involved in drug resistance, macrophage lipid metabolism and neural development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	neural development
	small molecule transport

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS