Homo sapiens Gene: ABCD2
Summary
InnateDB Gene IDBG-26995.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCD2
Gene Name ATP-binding cassette, sub-family D (ALD), member 2
Synonyms ABC39; ALDL1; ALDR; ALDRP; hALDR;
Species Homo sapiens
Ensembl Gene ENSG00000173208
Encoded Proteins
ATP-binding cassette, sub-family D (ALD), member 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:39550033-39619751
Strand Reverse strand
Band q12
Transcripts
ENST00000308666 ENSP00000310688
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GO:0042803 protein homodimerization activity
Biological Process
GO:0000038 very long-chain fatty acid metabolic process
GO:0006200 ATP catabolic process
GO:0006635 fatty acid beta-oxidation
GO:0006810 transport
GO:0032000 positive regulation of fatty acid beta-oxidation
GO:0042760 very long-chain fatty acid catabolic process
GO:0055085 transmembrane transport
Cellular Component
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
ABCA transporters in lipid homeostasis pathway
ABC-family proteins mediated transport pathway
KEGG
ABC transporters pathway
Peroxisome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9UBJ2
TrEMBL
UniProt Splice Variant
Entrez Gene 225
UniGene Hs.117852 Hs.709970
RefSeq NM_005164
HUGO HGNC:66
OMIM 601081
CCDS CCDS8734
HPRD
IMGT
EMBL AF119822 AF119823 AF119824 AF119825 AF119826 AF119827 AF119828 AF119829 AF119830 AF119831 AJ000327 AK314254 BC104901 BC104903 CH471111 U28150
GenPept AAB00541 AAD30439 AAI04902 AAI04904 BAG36920 CAA03994 EAW57807
RNA Seq Atlas 225