Abcd2 ATP-binding cassette, sub-family D member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcd2provided by MGI
Official Full Name: ATP-binding cassette, sub-family D member 2provided by MGI
Primary source: MGI:MGI:1349467
See related: Ensembl:ENSMUSG00000055782 AllianceGenome:MGI:1349467
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ALDR; ABC39; ALDL1; ALDRP
Summary: The membrane-associated 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 the human 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 subcutaneous fat pad adult (RPKM 15.5), genital fat pad adult (RPKM 12.8) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E3; 15 46.0 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (91029874..91076013, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (91145871..91192007, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy.
Title: Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy.
Combined absence of ABCD1 and ABCD2 proteins resulted in the accumulation of very long-chain fatty acids in murine BV-2 cells.
Title: CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: novel microglial models for X-linked Adrenoleukodystrophy.
ABCD1 and its homolog ABCD2 exist mainly as homotetramers in the peroxisomal membrane
Title: Peroxisomal ATP-binding cassette transporters form mainly tetramers.
Abcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient mice
Title: Abcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient mice.
analysis of D2 localization and the proteome of D2-containing organelles, in adipose tissue
Title: ABCD2 identifies a subclass of peroxisomes in mouse adipose tissue.
The absence of ABCD2 altered expression of gene clusters associated with lipid metabolism, including PPARalpha signaling.
Title: ABCD2 alters peroxisome proliferator-activated receptor α signaling in vitro, but does not impair responses to fenofibrate therapy in a mouse model of diet-induced obesity.
an essential role for D2 in the protection from dietary erucic acid
Title: The absence of ABCD2 sensitizes mice to disruptions in lipid metabolism by dietary erucic acid.
ABCD2 is a sterol regulatory element binding protein target gene that is highly abundant in fat and opposes the accumulation of dietary lipids generally absent from the triglyceride storage pool within adipose tissue.
Title: ABCD2 is abundant in adipose tissue and opposes the accumulation of dietary erucic acid (C22:1) in fat.
Abcd1 and Abcd2 gene silencing sensitizes astrocytes for inflammation and may have a role in X-adrenoleukodystrophy
Title: Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy.
ABCD2 plays a role in th degradation of long-chain saturated and omega9-monounsaturated fatty acids and in the synthesis of docosahexanoic acid.
Title: A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Abcd2 (e-PCR), detects polymorphism
- UniSTS:259030

Gene Ontology Provided by MGI

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	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables fatty acyl-CoA hydrolase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables long-chain fatty acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid beta-oxidation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty acid import into peroxisome	IBA Inferred from Biological aspect of Ancestor more info
involved_in myelin maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cytokine production involved in inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peroxisome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of fatty acid beta-oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of fatty acid beta-oxidation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of unsaturated fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed
involved_in transmembrane transport	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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in very long-chain fatty acid catabolic process	ISO Inferred from Sequence Orthology more info
involved_in very long-chain fatty acid metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	ISO Inferred from Sequence Orthology more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	ISO Inferred from Sequence Orthology more info

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 related; 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_001358967.2 → NP_001345896.1 ATP-binding cassette sub-family D member 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC113102

UniProtKB/TrEMBL

Q3TU16

Conserved Domains (1) summary

cl26602
Location:74 → 685

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_011994.4 → NP_036124.2 ATP-binding cassette sub-family D member 2 isoform 1

See identical proteins and their annotated locations for NP_036124.2

Status: REVIEWED

Description

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

Source sequence(s)

AC113102

Consensus CDS

CCDS27760.1

UniProtKB/Swiss-Prot

A0A0R4J0U5, Q61285, Q8BQ63, Q8C4B6

UniProtKB/TrEMBL

Q3TU16

Related

ENSMUSP00000068940.7, ENSMUST00000069511.8

Conserved Domains (1) summary

TIGR00954
Location:74 → 686

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