Tbio ABCD2 ATP-binding cassette sub-family D member 2

Protein Summary

Description

Probable transporter. 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]

Uniprot Accession IDs

• Q9UBJ2
• B2RAM3
• Q13210
• Q2M3H9

Gene Name

• ABCD2

Ensembl ID

• ENST00000308666
• ENSP00000310688
• ENSG00000173208

Symbol

• ALD1
• ALDL1
• ALDR
• ALDRP
• ALDR
• ABC39
• ALDL1
• ALDRP
• hALDR

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.99
gene perturbation	0.75
histone modification site profile	0.75
protein domain	0.73
microRNA	0.69

Protein Classes

PANTHER Classes

Protein / Transporter / Atp-binding Cassette Sub-family D Member 2

DTO Classes

Protein / Transporter / Atp-binding Cassette Transporter Family / Abcd Subfamily Of Peroxisomal Abc Transporters / Atp-binding Cassette Sub-family D Member 2

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 91.31   (req: < 5)

Gene RIFs: 17   (req: <= 3)

Antibodies: 240   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 91.31   (req: >= 5)

Gene RIFs: 17   (req: > 3)

Antibodies: 240   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0