ABCD2 (ATP binding cassette subfamily D member 2)

2014-11-01  

Identity

HGNC
ABCD2
LOCATION
12q12
LOCUSID
225
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
341987632021Peroxisomal ABC Transporters: An Update.22
341987632021Peroxisomal ABC Transporters: An Update.22
302644022018Suppression of ABCD2 dysregulates lipid metabolism via dysregulation of miR-141:ACSL4 in human osteoarthritis.12
302644022018Suppression of ABCD2 dysregulates lipid metabolism via dysregulation of miR-141:ACSL4 in human osteoarthritis.12
277662642016ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.26
277662642016ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.26
256040682015Duration of symptom and ABCD2 score as predictors of risk of early recurrent events after transient ischemic attack: a hospital-based case series study.4
256040682015Duration of symptom and ABCD2 score as predictors of risk of early recurrent events after transient ischemic attack: a hospital-based case series study.4
250793822014Evaluation of retinoids for induction of the redundant gene ABCD2 as an alternative treatment option in X-linked adrenoleukodystrophy.3
250793822014Evaluation of retinoids for induction of the redundant gene ABCD2 as an alternative treatment option in X-linked adrenoleukodystrophy.3
234371032013ABCD2 is a direct target of β-catenin and TCF-4: implications for X-linked adrenoleukodystrophy therapy.7
243381912013Value of ABCD2 in predicting early ischemic stroke in patients diagnosed with transient ischemic attack.2
234371032013ABCD2 is a direct target of β-catenin and TCF-4: implications for X-linked adrenoleukodystrophy therapy.7
243381912013Value of ABCD2 in predicting early ischemic stroke in patients diagnosed with transient ischemic attack.2
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.13

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