Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ABCD2 Gene

Aliases for ABCD2 Gene

  • ATP Binding Cassette Subfamily D Member 2 2 3 5
  • ATP-Binding Cassette, Sub-Family D (ALD), Member 2 2 3
  • Adrenoleukodystrophy-Related Protein 3 4
  • Adrenoleukodystrophy-Like 1 3 4
  • ALDL1 3 4
  • ALDRP 3 4
  • HALDR 3 4
  • ALDR 3 4
  • ATP-Binding Cassette Sub-Family D Member 2 3
  • ABC39 3
  • ALD1 4

External Ids for ABCD2 Gene

Previous HGNC Symbols for ABCD2 Gene

  • ALDL1

Previous GeneCards Identifiers for ABCD2 Gene

  • GC12M040139
  • GC12M039845
  • GC12M039663
  • GC12M038232
  • GC12M039945
  • GC12M036971

Summaries for ABCD2 Gene

Entrez Gene Summary for ABCD2 Gene

  • 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]

GeneCards Summary for ABCD2 Gene

ABCD2 (ATP Binding Cassette Subfamily D Member 2) is a Protein Coding gene. Diseases associated with ABCD2 include Adrenoleukodystrophy and Demyelinating Disease. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCD1.

UniProtKB/Swiss-Prot for ABCD2 Gene

  • Probable transporter.

Gene Wiki entry for ABCD2 Gene

Additional gene information for ABCD2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCD2 Gene

Genomics for ABCD2 Gene

GeneHancer (GH) Regulatory Elements for ABCD2 Gene

Promoters and enhancers for ABCD2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J039617 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.3 +31.0 30987 5.6 HDGF PKNOX1 SIN3A FEZF1 ZNF766 ZNF207 ATF7 RUNX3 RXRA GTF2B ABCD2 KIF21A C12orf40 ENSG00000270273 GC12P039462
GH12J039626 Promoter 1.1 EPDnew 0.3 +25.2 25162 0.1 CTCF MEIS2 ATF1 NFRKB E4F1 CHAMP1 CC2D1A ZNF766 PHF20 ARID2 C12orf40 ABCD2 ENSG00000270273 GC12P039462
GH12J039627 Enhancer 0.5 dbSUPER 0.3 +22.9 22877 1.7 ZMYM3 ELF1 MLLT1 RUNX3 LINC02406 LINC02555 C12orf40 ABCD2 GC12P039462
GH12J039595 Enhancer 0.7 dbSUPER 0.2 +52.6 52622 7.3 ZBTB21 ZFP64 ZNF140 ZNF266 CEBPG ZNF697 ZNF664 ZNF213 TRIM24 ATF7 C12orf40 KIF21A ABCD2 ENSG00000270273 GC12P039462
GH12J039605 Enhancer 0.7 ENCODE dbSUPER 0.2 +45.7 45654 0.2 JUND JUN STAT3 CEBPB EP300 C12orf40 ABCD2 ENSG00000270273 GC12P039462
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCD2 gene promoter:
  • POU2F1
  • POU2F1a
  • HSF2
  • c-Myb
  • Chx10
  • Evi-1
  • GR
  • GR-alpha
  • RP58
  • E47

Genomic Locations for ABCD2 Gene

Genomic Locations for ABCD2 Gene
101,296 bases
Minus strand
70,009 bases
Minus strand

Genomic View for ABCD2 Gene

Genes around ABCD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCD2 Gene

Proteins for ABCD2 Gene

  • Protein details for ABCD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family D member 2
    Protein Accession:
    Secondary Accessions:
    • B2RAM3
    • Q13210
    • Q2M3H9

    Protein attributes for ABCD2 Gene

    740 amino acids
    Molecular mass:
    83233 Da
    Quaternary structure:
    • Can form heterodimers with ABCD1/ALD and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19.

neXtProt entry for ABCD2 Gene

Post-translational modifications for ABCD2 Gene

  • Glycosylation at posLast=227227 and Asn190
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCD2 Gene

No data available for DME Specific Peptides for ABCD2 Gene

Domains & Families for ABCD2 Gene

Gene Families for ABCD2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ABCD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
genes like me logo Genes that share domains with ABCD2: view

Function for ABCD2 Gene

Molecular function for ABCD2 Gene

UniProtKB/Swiss-Prot Function:
Probable transporter.
GENATLAS Biochemistry:
ATP-binding cassette superfamily,subfamily D (ALD),member 2,expressed in brain,heart,and adrenals,peroxisomal membrane protein-like 1,adrenoleukodystrophy related

Gene Ontology (GO) - Molecular Function for ABCD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005324 long-chain fatty acid transporter activity TAS --
GO:0005515 protein binding IPI 10704444
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with ABCD2: view
genes like me logo Genes that share phenotypes with ABCD2: view

Animal Models for ABCD2 Gene

MGI Knock Outs for ABCD2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCD2 Gene

Localization for ABCD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCD2 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCD2 gene
Compartment Confidence
peroxisome 5
cytosol 4
plasma membrane 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ABCD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 10196381
GO:0005778 peroxisomal membrane TAS --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCD2 Gene

Pathways & Interactions for ABCD2 Gene

genes like me logo Genes that share pathways with ABCD2: view

Pathways by source for ABCD2 Gene

Gene Ontology (GO) - Biological Process for ABCD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IDA 10196381
GO:0006635 fatty acid beta-oxidation IGI 21145416
GO:0015909 long-chain fatty acid transport IEA --
GO:0032000 positive regulation of fatty acid beta-oxidation IDA 10196381
GO:0042760 very long-chain fatty acid catabolic process IGI 21145416
genes like me logo Genes that share ontologies with ABCD2: view

No data available for SIGNOR curated interactions for ABCD2 Gene

Drugs & Compounds for ABCD2 Gene

(4) Drugs for ABCD2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ABCD2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCD2: view

Transcripts for ABCD2 Gene

mRNA/cDNA for ABCD2 Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ABCD2 Gene

ATP-binding cassette, sub-family D (ALD), member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCD2 Gene

No ASD Table

Relevant External Links for ABCD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCD2 Gene

mRNA differential expression in normal tissues according to GTEx for ABCD2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for ABCD2 Gene

This gene is overexpressed in Cervix (42.7), Adipocyte (11.9), and Peripheral blood mononuclear cells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCD2 Gene

Protein tissue co-expression partners for ABCD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCD2 Gene:


SOURCE GeneReport for Unigene cluster for ABCD2 Gene:


mRNA Expression by UniProt/SwissProt for ABCD2 Gene:

Tissue specificity: Predominantly expressed in brain and heart.

Evidence on tissue expression from TISSUES for ABCD2 Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with ABCD2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCD2 Gene

Orthologs for ABCD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABCD2 34 33
  • 99.68 (n)
(Bos Taurus)
Mammalia ABCD2 34
  • 95 (a)
(Canis familiaris)
Mammalia ABCD2 34 33
  • 94.28 (n)
(Monodelphis domestica)
Mammalia ABCD2 34
  • 91 (a)
(Mus musculus)
Mammalia Abcd2 16 34 33
  • 88.95 (n)
(Rattus norvegicus)
Mammalia Abcd2 33
  • 87.91 (n)
(Ornithorhynchus anatinus)
Mammalia ABCD2 34
  • 73 (a)
(Gallus gallus)
Aves ABCD2 34 33
  • 76.88 (n)
(Anolis carolinensis)
Reptilia ABCD2 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd2 33
  • 76.7 (n)
Str.1295 33
(Danio rerio)
Actinopterygii ABCD2 (2 of 2) 34
  • 82 (a)
ABCD2 (1 of 2) 34
  • 72 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2316 34 35 33
  • 60.39 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002071 33
  • 55.89 (n)
(Caenorhabditis elegans)
Secernentea T02D1.5 35
  • 58 (a)
pmp-4 34
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 36 34
  • 29 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5629 33
(Glycine max)
eudicotyledons Gma.5693 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
Species where no ortholog for ABCD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCD2 Gene

Gene Tree for ABCD2 (if available)
Gene Tree for ABCD2 (if available)
Evolutionary constrained regions (ECRs) for ABCD2: view image

Paralogs for ABCD2 Gene

Paralogs for ABCD2 Gene

(3) SIMAP similar genes for ABCD2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ABCD2: view

Variants for ABCD2 Gene

Sequence variations from dbSNP and Humsavar for ABCD2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
VAR_062664 A pancreatic ductal adenocarcinoma sample p.Gln244Lys
rs1000055410 -- 39,592,894(-) T/G 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000061675 -- 39,615,244(-) A/G intron_variant
rs1000070359 -- 39,545,818(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000071986 -- 39,570,087(-) A/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCD2 Gene

Variant ID Type Subtype PubMed ID
dgv197n27 CNV loss 19166990
dgv2575n54 CNV loss 21841781
dgv803n106 CNV deletion 24896259
esv2007616 CNV deletion 18987734
esv2619796 CNV deletion 19546169
esv2664468 CNV deletion 23128226
esv2745775 CNV deletion 23290073
esv3549083 CNV deletion 23714750
esv3629265 CNV loss 21293372
nsv1039645 CNV loss 25217958
nsv473399 CNV novel sequence insertion 20440878
nsv519635 CNV loss 19592680
nsv522940 CNV loss 19592680

Variation tolerance for ABCD2 Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCD2 Gene

Disorders for ABCD2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ABCD2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • sudanophilic cerebral sclerosis
demyelinating disease
  • demyelinating disorder
cerebral degeneration
  • brain degeneration
- elite association - COSMIC cancer census association via MalaCards
Search ABCD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCD2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCD2 Gene

Publications for ABCD2 Gene

  1. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. (PMID: 8577752) Lombard-Platet G … Chimini G (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 22 58
  2. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. (PMID: 10777694) Gloeckner CJ … Roscher AA (Biochemical and biophysical research communications 2000) 3 4 22 58
  3. Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy. (PMID: 10329405) Holzinger A … Roscher AA (Biochemical and biophysical research communications 1999) 3 4 22 58
  4. cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter. (PMID: 9345306) Holzinger A … Roscher AA (Biochemical and biophysical research communications 1997) 3 4 22 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for ABCD2 Gene

Sources for ABCD2 Gene

Loading form....