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FLASH GENE

Symbol

ABCD2

contributors: mct/npt/pgu - updated : 10-11-2017

HGNC name	ATP-binding cassette, sub-family D (ALD), member 2
HGNC id	66

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	12q12      Physical location : 39.945.021 - 40.013.843
Synonym name	ALD-related gene
	adrenoleukodystrophy-related protein
	adrenoleukodystrophy-like 1
Synonym symbol(s)	ALDRP, ALDL1, ALDR, ABC39, ALD1

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	68.82 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D12S1930 - D12S 874 - ABCD2 - D12S1243E - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005164 10 - 5341 NP_005155 83 740 - 1997 9345306

EXPRESSION

Type	restricted

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 Cardiovascular heart       predominantly Endocrine parathyroid         Nervous brain       predominantly Reproductive male system testis     highly Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Reproductive Leydig cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal hydrophobic region and is targeted to peroxisomes
	one ATP binding and one transmembrane (TM) domain (6 segments)
	half transporter structure

conjugated

GlycoP

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies	ortholog to murine Abcd2
	homolog to Drosophila CG2316
	homolog to C.elegans T02D1.5

intraspecies

paralog to ABCD1

Homologene

FAMILY

ABC transporter family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,peroxisome

basic FUNCTION	half ABC transporter, traffic ATPase
	peroxisomal import of fatty acids and/or fattyl acyl-CoA in the organelles
	overexpression complements the loss of ABCD1, but it is not a major modifier locus for clinical diversity in ALD
	having the same transporter function as ABCD1 (functional redundancy)
	specific involvement of ABCD2 and ABCD3 in polyunsaturated fatty acids metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport , cellular trafficking transport

PATHWAY

metabolism

lipid/lipoprotein

signaling

fatty acid metabolism

a component

functional homodimeric or heterodimeric transporter

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein

binding to retinoic acid, forskolin (enhancing of promoter of ABCD2)

cell & other

REGULATION

induced by

fenofibrate

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in adrenoleukodystrophy

Susceptibility

Variant & Polymorphism

Candidate gene	candidate for a complement group of Zellweger syndrome (OMIM 214100)
Marker
Therapy target

ANIMAL & CELL MODELS