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ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 [ Homo sapiens (human) ]

Gene ID: 225, updated on 11-Sep-2014
Official Symbol
ABCD2provided by HGNC
Official Full Name
ATP-binding cassette, sub-family D (ALD), member 2provided by HGNC
Primary source
HGNC:HGNC:66
See related
HPRD:03051; MIM:601081
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALDR; ABC39; ALDL1; ALDRP; hALDR
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]
See ABCD2 in Epigenomics, MapViewer
Location:
12q12
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (39551220..39620041, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (39945022..40013843, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927019 Neighboring gene kinesin family member 21A Neighboring gene ribosomal protein L7a pseudogene Neighboring gene chromosome 12 open reading frame 40 Neighboring gene solute carrier family 2 (facilitated glucose transporter), member 13 Neighboring gene ribosomal protein L30 pseudogene 13

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters, conserved biosystem (from KEGG)
    ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • ABCA transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
    ABCA transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
  • Nuclear receptors in lipid metabolism and toxicity, organism-specific biosystem (from WikiPathways)
    Nuclear receptors in lipid metabolism and toxicity, organism-specific biosystemNuclear receptors are transcription factors that are activated upon binding to its ligands. Initially, they had been classified as classic endocrine nuclear hormone receptors and orphan receptors. Ho...
  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
 
Process Evidence Code Pubs
ATP catabolic process IEA
Inferred from Electronic Annotation
more info
 
fatty acid beta-oxidation IGI
Inferred from Genetic Interaction
more info
 
positive regulation of fatty acid beta-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
very long-chain fatty acid catabolic process IGI
Inferred from Genetic Interaction
more info
 
very long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
ATP-binding cassette sub-family D member 2
Names
ATP-binding cassette sub-family D member 2
adrenoleukodystrophy-like 1
adrenoleukodystrophy-related protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005164.3NP_005155.1  ATP-binding cassette sub-family D member 2

    See proteins identical to NP_005155.1

    Status: REVIEWED

    Source sequence(s)
    AC121334, AK314254, DB259336
    Consensus CDS
    CCDS8734.1
    UniProtKB/Swiss-Prot
    Q9UBJ2
    Conserved Domains (3) summary
    cd03223
    Location:478683
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    TIGR00954
    Location:74685
    3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protei
    pfam06472
    Location:78365
    ABC_membrane_2; ABC transporter transmembrane region 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    39551220..39620041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    36971383..37040198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    39911021..39979850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)