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ABCD2 ATP binding cassette subfamily D member 2 [ Homo sapiens (human) ]

Gene ID: 225, updated on 24-Nov-2020

Summary

Official Symbol
ABCD2provided by HGNC
Official Full Name
ATP binding cassette subfamily D member 2provided by HGNC
Primary source
HGNC:HGNC:66
See related
Ensembl:ENSG00000173208 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]
Expression
Biased expression in fat (RPKM 4.4), brain (RPKM 1.0) and 7 other tissues See more
Orthologs

Genomic context

See ABCD2 in Genome Data Viewer
Location:
12q12
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (39530965..39651333, 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 member 13 Neighboring gene uncharacterized LOC112268095 Neighboring gene ribosomal protein L30 pseudogene 13

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain fatty acid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation IGI
Inferred from Genetic Interaction
more info
PubMed 
long-chain fatty acid import into peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myelin maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cytokine production involved in inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of reactive oxygen species biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
peroxisome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of fatty acid beta-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of unsaturated fatty acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
very long-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
very long-chain fatty acid catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
very long-chain fatty acid catabolic process ISS
Inferred from Sequence or Structural Similarity
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
 
peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ATP-binding cassette sub-family D member 2
Names
ATP-binding cassette, sub-family D (ALD), member 2
adrenoleukodystrophy-like 1
adrenoleukodystrophy-related protein

NCBI Reference Sequences (RefSeq)

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_005164.4NP_005155.1  ATP-binding cassette sub-family D member 2

    See identical proteins and their annotated locations for NP_005155.1

    Status: REVIEWED

    Source sequence(s)
    AC121334, AK314254, DB259336
    Consensus CDS
    CCDS8734.1
    UniProtKB/Swiss-Prot
    Q9UBJ2
    Related
    ENSP00000310688.3, ENST00000308666.4
    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 protein
    pfam06472
    Location:80365
    ABC_membrane_2; ABC transporter transmembrane region 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    39530965..39651333 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018992.2XP_016874481.1  ATP-binding cassette sub-family D member 2 isoform X2

  2. XM_011538027.3XP_011536329.1  ATP-binding cassette sub-family D member 2 isoform X1

    See identical proteins and their annotated locations for XP_011536329.1

    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 protein
    pfam06472
    Location:80365
    ABC_membrane_2; ABC transporter transmembrane region 2
  3. XM_017018993.2XP_016874482.1  ATP-binding cassette sub-family D member 2 isoform X3

RNA

  1. XR_001748622.2 RNA Sequence

  2. XR_001748623.2 RNA Sequence

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