ABCD2 - ATP binding cassette subfamily D member 2 Gene

Also Known as ALDR; ABC39; ALDL1; ALDRP; hALDR

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 225

About ABCD2

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:39,531,025-39,619,803 (from NCBI)

This gene has 1 transcript (splice variant), 215 orthologues and 3 paralogues. Biased expression in fat (RPKM 4.4), brain (RPKM 1.0) and 7 other tissues.

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or Other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]

ABCD2 Products (7)

mRNA Protein Name
NM_001412788.1 NP_001399717.1 ATP-binding cassette sub-family D member 2 isoform 2
NM_001412789.1 NP_001399718.1 ATP-binding cassette sub-family D member 2 isoform 3
NM_001412790.1 NP_001399719.1 ATP-binding cassette sub-family D member 2 isoform 4
NM_001412791.1 NP_001399720.1 ATP-binding cassette sub-family D member 2 isoform 5
NM_001412792.1 NP_001399721.1 ATP-binding cassette sub-family D member 2 isoform 6
NM_001412793.1 NP_001399722.1 ATP-binding cassette sub-family D member 2 isoform 7
NM_005164.4 NP_005155.1 ATP-binding cassette sub-family D member 2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ATP hydrolysis activity IDA
IDA: Inferred from direct assay
29397936 GOA
enables ATPase-coupled transmembrane transporter activity IDA
IDA: Inferred from direct assay
16946495 GOA
enables fatty acyl-CoA hydrolase activity IDA
IDA: Inferred from direct assay
29397936 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10704444 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
21145416 GOA
Biological Process GO Annotation Evidence References Source
involved in fatty acid beta-oxidation IGI
IGI: Inferred from genetic interaction
21145416 GOA
involved in positive regulation of fatty acid beta-oxidation IDA
IDA: Inferred from direct assay
10196381 GOA
involved in very long-chain fatty acid catabolic process IGI
IGI: Inferred from genetic interaction
21145416 GOA
involved in very long-chain fatty acid metabolic process IDA
IDA: Inferred from direct assay
10196381 GOA
Cellular Component GO Annotation Evidence References Source
located in peroxisome IDA
IDA: Inferred from direct assay
10196381 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCD2 Protein Structure

ABC_membrane_2

ABC_membrane_2: ABC transporter transmembrane region 2 (80 - 365)

ABC_tran

ABC_tran: ABC transporter (496 - 637)

  • 0
  • 200
  • 400
  • 600
  • 740 a.a.
Protein Preferred Names Protein Names

ATP-binding cassette sub-family D member 2

  • ATP-binding cassette, sub-family D (ALD), member 2

Related Diseases

Diseases Alias
Adrenoleukodystrophy

  • X-Linked Adrenoleukodystrophy

  • ALD

  • Siemerling-Creutzfeldt Disease

  • X-Ald

  • X-Linked Cerebral Adrenoleukodystrophy

  • Bronze Schilder Disease

  • Melanodermic Leukodystrophy

  • Addison Disease And Cerebral Sclerosis

  • Adrenomyeloneuropathy, Adult

  • Diffuse Sclerosis

  • X-Cald

  • Adrenomyeloneuropathy

  • Encephalitis Periaxialis Concentrica

  • Encephalitis Periaxialis, Schilder'S

  • Sudanophilic Cerebral Sclerosis

  • Ald Childhood Cerebral Form

  • Adrenoleukodystrophy X-Linked Cerebral Form

  • Adrenoleukodystrophy Childhood Cerebral Form

  • Childhood Cerebral Ald

  • Schilder Disease

  • X-Linked Ald

  • Adrenoleukodystrophy, X-Linked

  • Amn

  • Diffuse Cerebral Sclerosis Of Schilder

  • Systemic Scleroderma

  • Balo'S Concentric Sclerosis

  • Ald - [Adrenoleukodystrophy]

  • Addison-Schilder
Bile Acid Synthesis Defect, Congenital, 5

  • Congenital Bile Acid Synthesis Defect 5

  • CBAS5

  • Bile Acid Synthesis Defect, Congenital, Type 5
Zellweger Syndrome

  • Cerebrohepatorenal Syndrome

  • Zellweger Leukodystrophy

  • Zs

  • Congenital Iron Overload

  • Chr

  • Zws

  • Severe Pbd-Zsd

  • Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Demyelinating Disease

  • Demyelinating Diseases

  • Demyelinating Disorder
Cerebral Degeneration

  • Brain Degeneration

  • Degenerative Brain Disorder
Peroxisomal Disease

  • Peroxisomal Disorder

  • Peroxisomal Disorders

  • Peroxisomal Defects
Peroxisomal Biogenesis Disorder

  • Zellweger Spectrum Disorders

  • Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

  • Disorders Of Peroxisome Biogenesis

  • Zellweger Spectrum

  • Zellweger Syndrome Spectrum

  • Peroxisomal Biogenesis Disorders

  • Pbd, Zss

  • Pbd-Zsd

  • Pbd-Zss

  • Pbd-Zellweger Spectrum Disorder

  • Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

  • Peroxisome Biogenesis Disorder

  • Peroxisome Biogenesis Disorder Spectrum

  • Peroxisome Biogenesis Disorders

  • Zellweger Spectrum Disorder

  • Hyperpipecolic Acidaemia
Leukodystrophy

  • Leukodystrophies
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Phase
HY-160004 PXL770 Activator 99.56% Phase 2
HY-156679 VK-0214 Antagonist 99.87% Phase 1

Pre-clinical Phase

Bioactive Molecules (8)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-183032 ABC transporter modulator-1 Activator 96.30% Unkown
HY-183033 ABC transporter modulator-2 Activator 96.89% Unkown
HY-183034 ABC transporter modulator-3 Activator 97.0% Unkown
HY-183035 ABC transporter modulator-4 Modulator / Unkown
HY-183036 ABC transporter modulator-5 Modulator / Unkown
HY-RS00069 ABCD2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS02086 CCL17 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS16826 Ccl17 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ABCD2 VGNC VGNC:68047
Rattus norvegicus ABCD2 RGD RGD:69244
Canis familiaris ABCD2 VGNC VGNC:37446
Mus musculus ABCD2 MGD MGI:1349467
Bos taurus ABCD2 VGNC VGNC:55840
Macaca mulatta ABCD2 VGNC VGNC:69578
Others ABCD2 NCBI