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

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; AllianceGenome:HGNC:66
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: mouse all
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Genomic context

Location:: 12q12

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (39531025..39619803, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (39480907..39601214, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (39943835..40013605, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Peroxisomal ABC Transporters: An Update.
Title: Peroxisomal ABC Transporters: An Update.
The functional integrity of ABCD2 may play an important role in OA pathogenesis via the accumulation of VLCFAs and stimulation of apoptotic death through altering profiles of miRNAs that target ACSL4.
Title: Suppression of ABCD2 dysregulates lipid metabolism via dysregulation of miR-141:ACSL4 in human osteoarthritis.
ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol.
Title: ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
13-cis-retinoic acid induces ABCD2 expression in human monocytes/macrophages.
Title: Evaluation of retinoids for induction of the redundant gene ABCD2 as an alternative treatment option in X-linked adrenoleukodystrophy.
ABCD2 has a role, but not a strong one, in risk of early recurrent events after transient ischemic attack
Title: Duration of symptom and ABCD2 score as predictors of risk of early recurrent events after transient ischemic attack: a hospital-based case series study.
results show that although patients with ABCD2 score greater than 4 were more likely to develop recurrent TIA/CVA in short term, those with lesser score still harbour a considerable risk for TIA/CVA
Title: Value of ABCD2 in predicting early ischemic stroke in patients diagnosed with transient ischemic attack.
The transcriptional activity of the ABCD2 promoter was strongly increased by ectopic expression of beta-catenin and TCF-4.
Title: ABCD2 is a direct target of β-catenin and TCF-4: implications for X-linked adrenoleukodystrophy therapy.
HsABCD1 and HsABCD2 have distinct substrate specificities
Title: Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation.
These findings are of particular importance for the attempt of pharmacological induction of ABCD2 as a possible therapeutic approach in X-linked adrenoleukodystrophy.
Title: X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-82897 (e-PCR)
- UniSTS:101231

ABCD2_195 (e-PCR)
- UniSTS:276952

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables fatty acyl-CoA hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables long-chain fatty acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in long-chain fatty acid import into peroxisome	IBA Inferred from Biological aspect of Ancestor more info
involved_in myelin maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cytokine production involved in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of reactive oxygen species biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in peroxisome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of fatty acid beta-oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of unsaturated fatty acid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in very long-chain fatty acid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in very long-chain fatty acid catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in very long-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	TAS Traceable Author Statement more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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)

NM_001412788.1 → NP_001399717.1 ATP-binding cassette sub-family D member 2 isoform 2

Status: REVIEWED

Source sequence(s)

AC121334, AC125491
NM_001412789.1 → NP_001399718.1 ATP-binding cassette sub-family D member 2 isoform 3

Status: REVIEWED

Source sequence(s)

AC121334, AC125491
NM_001412790.1 → NP_001399719.1 ATP-binding cassette sub-family D member 2 isoform 4

Status: REVIEWED

Source sequence(s)

AC121334, AC125491
NM_001412791.1 → NP_001399720.1 ATP-binding cassette sub-family D member 2 isoform 5

Status: REVIEWED

Source sequence(s)

AC121334, AC125491
NM_001412792.1 → NP_001399721.1 ATP-binding cassette sub-family D member 2 isoform 6

Status: REVIEWED

Source sequence(s)

AC121334, AC125491
NM_001412793.1 → NP_001399722.1 ATP-binding cassette sub-family D member 2 isoform 7

Status: REVIEWED

Source sequence(s)

AC121334
NM_005164.4 → NP_005155.1 ATP-binding cassette sub-family D member 2 isoform 1

See identical proteins and their annotated locations for NP_005155.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC121334, AK314254, DB259336

Consensus CDS

CCDS8734.1

UniProtKB/Swiss-Prot

B2RAM3, Q13210, Q2M3H9, Q9UBJ2

Related

ENSP00000310688.3, ENST00000308666.4

Conserved Domains (3) summary

cd03223
Location:478 → 683

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

TIGR00954
Location:74 → 685

3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein

pfam06472
Location:80 → 365

ABC_membrane_2; ABC transporter transmembrane region 2

RNA

NR_182045.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC121334, AC125491
NR_182046.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC121334, AC125491

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

39531025..39619803 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018992.3 → XP_016874481.1 ATP-binding cassette sub-family D member 2 isoform X1
XM_017018993.3 → XP_016874482.1 ATP-binding cassette sub-family D member 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

39480907..39601214 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054371410.1 → XP_054227385.1 ATP-binding cassette sub-family D member 2 isoform X1
XM_054371409.1 → XP_054227384.1 ATP-binding cassette sub-family D member 2 isoform X3

UniProtKB/Swiss-Prot

B2RAM3, Q13210, Q2M3H9, Q9UBJ2
XM_054371411.1 → XP_054227386.1 ATP-binding cassette sub-family D member 2 isoform X2