Abca2 ATP-binding cassette, sub-family A member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abca2provided by MGI
Official Full Name: ATP-binding cassette, sub-family A member 2provided by MGI
Primary source: MGI:MGI:99606
See related: Ensembl:ENSMUSG00000026944 AllianceGenome:MGI:99606
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Abc2; mKIAA1062; D2H0S1474E
Summary: Predicted to enable several functions, including ATP binding activity; ceramide floppase activity; and endopeptidase regulator activity. Involved in several processes, including regulation of protein glycosylation; regulation of protein localization; and sphingolipid metabolic process. Acts upstream of or within central nervous system myelin formation. Located in lysosomal membrane. Is expressed in brain; retina; and spinal cord. Orthologous to human ABCA2 (ATP binding cassette subfamily A member 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in genital fat pad adult (RPKM 51.2), cerebellum adult (RPKM 40.0) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 17.25 cM

Exon count:: 50

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (25318611..25338556)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (25428599..25448544)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Study suggests that ABCA2 modulation of sphingolipid metabolism activates a signaling pathway that regulates amyloid precursor protein transcription
Title: The ATP-Binding Cassette Transporter-2 (ABCA2) Overexpression Modulates Sphingosine Levels and Transcription of the Amyloid Precursor Protein (APP) Gene.
control of ABCA2 expression level may be a key locus of regulation for esterification of plasma membrane-derived cholesterol through modulation of sphingolipid metabolism.
Title: The ATP-binding cassette transporter-2 (ABCA2) regulates esterification of plasma membrane cholesterol by modulation of sphingolipid metabolism.
Data from knockout mice suggest that Abca2 functions in penile erection; Abca2 knockout mice are more susceptible to estrogen-induced convulsions than wildtype mice; Abca2 appears to be involved in biotransformation of therapeutic estrogens.
Title: Ablation of the ATP-binding cassette transporter, Abca2 modifies response to estrogen-based therapies.
Lack of ABCA2 generates abnormalities in intracellular lipid distribution/trafficking in macrophages, increasing susceptibility to apoptosis in response to oxidized lipids and reduced atherosclerotic lesion development in LDL receptor knockout mice.
Title: Macrophage ABCA2 deletion modulates intracellular cholesterol deposition, affects macrophage apoptosis, and decreases early atherosclerosis in LDL receptor knockout mice.
The ATP-binding cassette transporter-2 (ABCA2) is a key regulator of cholesterol homeostasis and low-density lipoprotein receptor metabolism in neuronal cells.
Title: The ATP-binding cassette transporter-2 (ABCA2) regulates cholesterol homeostasis and low-density lipoprotein receptor metabolism in N2a neuroblastoma cells.
Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-beta production by altering Nicastrin maturation and intracellular localization.
Title: Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-β production by altering Nicastrin maturation and intracellular localization.
ABC-me is a novel gene that determines the ability to tolerate cardiac ischemia/reperfusion.
Title: Mitochondrial transporter ATP binding cassette mitochondrial erythroid is a novel gene required for cardiac recovery after ischemia/reperfusion.
ABCA2 is involved in the intracellular metabolism of sphingolipids in the brain, particularly SM and gangliosides in oligodendrocytes and certain neurons.
Title: ABCA2 deficiency results in abnormal sphingolipid metabolism in mouse brain.
ABCA2 has a role in myelin compaction in spinal cord and cerebrum, and in phenotypic tremor
Title: "Skittish" Abca2 knockout mice display tremor, hyperactivity, and abnormal myelin ultrastructure in the central nervous system.
ABCA2 is expressed in non-myelin-forming as well as in myelin-forming Schwann cells. ABCA2 may be involved in transport of a substance associated with cellular maturation rather than initial myelin formation in both types of Schwann cells.
Title: Expression of ABCA2 protein in both non-myelin-forming and myelin-forming Schwann cells in the rodent peripheral nerve.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ceramide floppase activity	ISO Inferred from Sequence Orthology more info
enables endopeptidase regulator activity	ISO Inferred from Sequence Orthology more info
enables lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within central nervous system myelin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in central nervous system myelin formation	ISO Inferred from Sequence Orthology more info
involved_in central nervous system myelin formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ceramide translocation	ISO Inferred from Sequence Orthology more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
involved_in ganglioside metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosphingolipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular sphingolipid homeostasis	ISO Inferred from Sequence Orthology more info
involved_in lipid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of negative regulation of cholesterol efflux	ISO Inferred from Sequence Orthology more info
acts_upstream_of negative regulation of intracellular cholesterol transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of negative regulation of low-density lipoprotein receptor activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of low-density lipoprotein receptor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of phospholipid biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of negative regulation of receptor-mediated endocytosis involved in cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of sphingolipid biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of negative regulation of steroid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of amyloid precursor protein biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of positive regulation of amyloid precursor protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of positive regulation of amyloid-beta formation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of amyloid-beta formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of positive regulation of low-density lipoprotein particle receptor catabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of intracellular cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of intracellular cholesterol transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of regulation of post-translational protein modification	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization to cell periphery	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of regulation of steroid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in response to steroid hormone	ISS Inferred from Sequence or Structural Similarity more info
involved_in sphingomyelin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_positive_effect sphingosine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule organizing center	ISO Inferred from Sequence Orthology more info
located_in microtubule organizing center	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ATP-binding cassette sub-family A member 2

Names: ATP-binding cassette 2; ATP-binding cassette transporter 2; ATP-binding cassette, sub-family A (ABC1), member 2

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_001368624.1 → NP_001355553.1 ATP-binding cassette sub-family A member 2 isoform 2

Status: VALIDATED

Source sequence(s)

AK169438, AL732557, CJ126415, CJ263864

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:1 → 2368

rim_protein; retinal-specific rim ABC transporter
NM_007379.3 → NP_031405.2 ATP-binding cassette sub-family A member 2 isoform 1

See identical proteins and their annotated locations for NP_031405.2

Status: VALIDATED

Source sequence(s)

AK169438, AL732557, CJ126415, CJ263864

Consensus CDS

CCDS15773.1

UniProtKB/Swiss-Prot

P41234

UniProtKB/TrEMBL

A2AJ26

Related

ENSMUSP00000099983.4, ENSMUST00000102919.4

Conserved Domains (2) summary

TIGR01257
Location:1 → 2367

rim_protein; retinal-specific rim ABC transporter

cd03263
Location:2050 → 2273

ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

25318611..25338556

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030246714.2 → XP_030102574.1 ATP-binding cassette sub-family A member 2 isoform X6

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:16 → 2355

rim_protein; retinal-specific rim ABC transporter
XM_036157601.1 → XP_036013494.1 ATP-binding cassette sub-family A member 2 isoform X9

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:389 → 2298

rim_protein; retinal-specific rim ABC transporter
XM_006497614.5 → XP_006497677.1 ATP-binding cassette sub-family A member 2 isoform X5

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:16 → 2356

rim_protein; retinal-specific rim ABC transporter
XM_030246727.2 → XP_030102587.1 ATP-binding cassette sub-family A member 2 isoform X9

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:389 → 2298

rim_protein; retinal-specific rim ABC transporter
XM_006497609.2 → XP_006497672.1 ATP-binding cassette sub-family A member 2 isoform X1

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:58 → 2398

rim_protein; retinal-specific rim ABC transporter
XM_006497611.2 → XP_006497674.1 ATP-binding cassette sub-family A member 2 isoform X3

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:58 → 2379

rim_protein; retinal-specific rim ABC transporter
XM_036157597.1 → XP_036013490.1 ATP-binding cassette sub-family A member 2 isoform X4

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:27 → 2367

rim_protein; retinal-specific rim ABC transporter
XM_006497615.3 → XP_006497678.1 ATP-binding cassette sub-family A member 2 isoform X7

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:10 → 2350

rim_protein; retinal-specific rim ABC transporter
XM_006497616.3 → XP_006497679.1 ATP-binding cassette sub-family A member 2 isoform X8

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:10 → 2349

rim_protein; retinal-specific rim ABC transporter
XM_006497610.2 → XP_006497673.1 ATP-binding cassette sub-family A member 2 isoform X2

UniProtKB/Swiss-Prot

P41234

Conserved Domains (1) summary

TIGR01257
Location:58 → 2397

rim_protein; retinal-specific rim ABC transporter