InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-26997

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

ENSMUSG00000055782

View Gene Order

ENSBTAG00000038043

Not yet available

Pathways

NETPATH

REACTOME

REACT_111158

ABCA transporters in lipid homeostasis pathway

REACT_15480

ABC-family proteins mediated transport pathway

REACT_15518

Transmembrane transport of small molecules pathway

KEGG

hsa02010

ABC transporters pathway

hsa04146

Peroxisome pathway

INOH

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