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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
  • 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 ABC-family proteins mediated transport and Peroxisome. 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 ABCD3.

UniProtKB/Swiss-Prot for ABCD2 Gene

  • Probable transporter.

Gene Wiki entry for ABCD2 Gene

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

Genomics for ABCD2 Gene

Regulatory Elements for ABCD2 Gene

Enhancers for ABCD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABCD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCD2 Gene

Chromosome:
12
Start:
39,550,033 bp from pter
End:
39,651,328 bp from pter
Size:
101,296 bases
Orientation:
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:
    Q9UBJ2-ABCD2_HUMAN
    Recommended name:
    ATP-binding cassette sub-family D member 2
    Protein Accession:
    Q9UBJ2
    Secondary Accessions:
    • B2RAM3
    • Q13210
    • Q2M3H9

    Protein attributes for ABCD2 Gene

    Size:
    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

Proteomics data for ABCD2 Gene at MOPED

Post-translational modifications for ABCD2 Gene

  • Glycosylation at Asn 190 and Asn 227
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABCD2 Gene

Domains & Families for ABCD2 Gene

Gene Families for ABCD2 Gene

Suggested Antigen Peptide Sequences for ABCD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UBJ2

UniProtKB/Swiss-Prot:

ABCD2_HUMAN :
  • Contains 1 ABC transmembrane type-1 domain.
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
Domain:
  • Contains 1 ABC transmembrane type-1 domain.
  • Contains 1 ABC transporter domain.
Family:
  • 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

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

Gene Ontology (GO) - Molecular Function for ABCD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10704444
GO:0005524 ATP binding IEA --
GO:0042803 protein homodimerization activity IDA 21145416
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

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Jensen Localization Image for ABCD2 Gene 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:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ABCD2: view

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:0015909 long-chain fatty acid transport TAS --
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

(3) 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:

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

No ASD Table

Relevant External Links for ABCD2 Gene

GeneLoc Exon Structure for
ABCD2
ECgene alternative splicing isoforms for
ABCD2

Expression for ABCD2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ABCD2 Gene



SOURCE GeneReport for Unigene cluster for ABCD2 Gene Hs.117852

mRNA Expression by UniProt/SwissProt for ABCD2 Gene

Q9UBJ2-ABCD2_HUMAN
Tissue specificity: Predominantly expressed in brain and heart.
genes like me logo Genes that share expression patterns with ABCD2: view

Protein tissue co-expression partners for ABCD2 Gene

Primer Products

Orthologs for ABCD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCD2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ABCD2 35
  • 94.28 (n)
  • 96.22 (a)
ABCD2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcd2 35
  • 88.95 (n)
  • 94.05 (a)
Abcd2 16
Abcd2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCD2 35
  • 99.68 (n)
  • 99.73 (a)
ABCD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcd2 35
  • 87.91 (n)
  • 92.96 (a)
cow
(Bos Taurus)
Mammalia ABCD2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCD2 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCD2 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCD2 35
  • 76.88 (n)
  • 84.89 (a)
ABCD2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCD2 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd2 35
  • 76.7 (n)
  • 82.39 (a)
Str.1295 35
zebrafish
(Danio rerio)
Actinopterygii ABCD2 (1 of 2) 36
  • 72 (a)
OneToMany
ABCD2 (2 of 2) 36
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG2316 37
  • 56 (a)
CG2316 35
  • 60.39 (n)
  • 58.59 (a)
CG2316 36
  • 49 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002071 35
  • 55.89 (n)
  • 58.91 (a)
worm
(Caenorhabditis elegans)
Secernentea T02D1.5 37
  • 58 (a)
pmp-4 36
  • 53 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 36
  • 29 (a)
OneToMany
PXA1 38
soybean
(Glycine max)
eudicotyledons Gma.5693 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5629 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
OneToMany
Species with no ortholog for ABCD2:
  • 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

ENSEMBL:
Gene Tree for ABCD2 (if available)
TreeFam:
Gene Tree for ABCD2 (if available)

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 Sequence Context AA Info Type
VAR_062664 A pancreatic ductal adenocarcinoma sample
rs7133376 -- 39,589,080(+) taaag(A/G)tgtat intron-variant
rs7133599 -- 39,554,327(+) TTTAG(C/G)AAAAT intron-variant
rs7134015 -- 39,594,837(+) GGTTT(C/G)GTGGT intron-variant
rs7135021 -- 39,589,629(+) tgttc(C/T)gccca intron-variant

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

Variant ID Type Subtype PubMed ID
nsv522940 CNV Loss 19592680
dgv197n27 CNV Loss 19166990
dgv1412n71 CNV Loss 21882294
dgv1413n71 CNV Loss 21882294
nsv519635 CNV Loss 19592680
dgv1414n71 CNV Loss 21882294
esv2619796 CNV Deletion 19546169
esv2007616 CNV Deletion 18987734
esv2745775 CNV Deletion 23290073
esv2664468 CNV Deletion 23128226

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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
adrenoleukodystrophy
  • adrenomyeloneuropathy, adult
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

Relevant External Links for ABCD2

Genetic Association Database (GAD)
ABCD2
Human Genome Epidemiology (HuGE) Navigator
ABCD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCD2
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. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 23 67
  2. X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype. (PMID: 18834860) Maier E.M. … Berger J. (Biochem. Biophys. Res. Commun. 2008) 3 23
  3. Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy. (PMID: 17602313) Petroni A. … Uziel G. (J. Inherit. Metab. Dis. 2007) 3 23
  4. Liver X receptor alpha interferes with SREBP1c-mediated Abcd2 expression. Novel cross-talk in gene regulation. (PMID: 16249184) Weinhofer I. … Berger J. (J. Biol. Chem. 2005) 3 23
  5. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. (PMID: 11883941) Mayerhofer P.U. … Muntau A.C. (Biochem. Biophys. Res. Commun. 2002) 3 23

Products for ABCD2 Gene

Sources for ABCD2 Gene

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