ABCA2: ATP Binding Cassette Subfamily A Member 2
A key transporter in lipid homeostasis and potential biomarker in cancer and neurodegenerative disorders.
Gene Information Card
| Symbol | ABCA2 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily A Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 20 ncbi.nlm.nih.gov/gene/20 |
| Ensembl ID | ENSG00000107331 |
| UniProt ID | Q9BZC7 |
| OMIM ID | 600047 |
| HGNC ID | 32 |
| Aliases | ABC2, DKFZp686P06120 |
Description
ABCA2 (ATP Binding Cassette Subfamily A Member 2) encodes a member of the superfamily of ATP-binding cassette (ABC) transporters. The protein is involved in lipid transport, particularly cholesterol and phospholipids, and is expressed in brain, liver, and other tissues. It has been implicated in Alzheimer disease and various cancers, where altered expression may affect drug resistance and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer Disease | ABCA2 may modulate amyloid-beta peptide transport and lipid metabolism in the brain, influencing amyloid plaque formation. | PMID: 14514681; NCBI GeneRIF |
| Breast Cancer | Overexpression of ABCA2 is associated with multidrug resistance, potentially through efflux of chemotherapeutic agents. | PMID: 15604244; COSMIC |
| Prostate Cancer | ABCA2 expression is upregulated in prostate cancer and may serve as a biomarker for disease progression. | PMID: 19029980; NCBI GeneRIF |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Lung | 4.1 | Low |
| Kidney | 6.7 | Medium |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.8 | Cervical cancer cell line |
| HepG2 | 7.2 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 9.1 | Neuroblastoma cell line |
| MCF7 | 6.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% | Altered substrate specificity; potential loss of function |
| c.2567A>G (p.Asn856Ser) | Missense | 0.005% | Unknown significance; reported in ClinVar |
| c.3456_3457insA | Frameshift | <0.001% | Predicted loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein or disrupt ATP-binding domains are predicted to impair lipid transport activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for ABCA2.
Dominant Negative (DN)
Not established for ABCA2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005524 - ATP binding | • GO:0016887 - ATP hydrolysis activity |
| • GO:0006869 - lipid transport | • GO:0015914 - phospholipid transport |
| • GO:0005886 - plasma membrane | • GO:0016021 - integral component of membrane |
Pathways
• ABC transporters (KEGG: hsa02010)
• Cholesterol metabolism (Reactome: R-HSA-8957322)
Protein Summary
ABCA2 is a 2436-amino acid transmembrane protein with two nucleotide-binding domains (NBDs) and two transmembrane domains (TMDs). It functions as an active transporter of lipids, particularly cholesterol and phosphatidylcholine, across cellular membranes. The protein is highly expressed in brain and liver, and its dysregulation is linked to Alzheimer disease and cancer chemoresistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA2 Knockout HEK293 Cell Line | EDJ-KQ2538 | Human | 20 | Details Get a Quote |
| ABCA2 Knockout A-549 Cell Line | EDJ-KQ23175 | Human | 20 | Details Get a Quote |
| ABCA2 Knockout HCT 116 Cell Line | EDJ-KQ23176 | Human | 20 | Details Get a Quote |
| ABCA2 Knockout HeLa Cell Line | EDJ-KQ23177 | Human | 20 | Details Get a Quote |
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