ABCD2 (ATP binding cassette subfamily D member 2)

2014-11-01  

Identity

HGNC
LOCATION
12q12
LOCUSID
ALIAS
ABC39,ALDL1,ALDR,ALDRP,hALDR

Other Information

Locus ID:

NCBI: 225
MIM: 601081
HGNC: 66
Ensembl: ENSG00000173208

Variants:

dbSNP: 225
ClinVar: 225
TCGA: ENSG00000173208
COSMIC: ABCD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173208ENST00000308666Q9UBJ2

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062

References

Pubmed IDYearTitleCitations
211454162011Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation.35
105518321999Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.27
105518321999Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.27
105518321999Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.27
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
107776942000Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.11
162491842005Liver X receptor alpha interferes with SREBP1c-mediated Abcd2 expression. Novel cross-talk in gene regulation.10
188348602008X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.9
206616122011Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.8

Citation

Dessen P

ABCD2 (ATP binding cassette subfamily D member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60041/abcd2