2. Gene
  3. ABCD2 - ATP binding cassette subfamily D member 2 Gene

ABCD2 - ATP binding cassette subfamily D member 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 225 | Gene type: protein coding

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

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
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  • 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

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-156679 VK-0214 Antagonist / Unkown
HY-RS00069 ABCD2 Human Pre-designed siRNA Set A Pre-designed Sets / 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