ABCA9: ATP Binding Cassette Subfamily A Member 9
A member of the ABC transporter superfamily implicated in lipid homeostasis and potential roles in cellular transport processes.
Gene Information Card
| Symbol | ABCA9 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily A Member 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 10350 ncbi.nlm.nih.gov/gene/10350 |
| Ensembl ID | ENSG00000150967 |
| UniProt ID | Q8IUA7 |
| OMIM ID | 612507 |
| HGNC ID | 14638 |
| Aliases | EST92298, FLJ14904, MGC138498 |
Description
ABCA9 (ATP Binding Cassette Subfamily A Member 9) is a protein-coding gene belonging to the ABC transporter superfamily. ABC transporters are involved in the transport of various molecules across cellular membranes, including lipids and drugs. ABCA9 is specifically implicated in lipid homeostasis and may play a role in macrophage lipid metabolism. The gene is located on chromosome 17q24.2 and is expressed in multiple tissues, with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tangier disease (potential) | ABCA9 may contribute to lipid transport defects similar to other ABCA family members; however, direct evidence is limited. | OMIM: 612507 |
| Atherosclerosis (potential) | Altered ABCA9 expression could affect macrophage cholesterol efflux and foam cell formation. | NCBI Gene: 10350 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Lung | 6.1 | Low |
| Brain | 2.4 | Not detected |
| Heart | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 3.4 | Embryonic kidney cells |
| A549 | 2.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.567delG (p.Gly190Valfs*12) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delG) are predicted to cause premature truncation and loss of ABCA9 function.
Gain of Function (GOF)
No gain-of-function mutations reported for ABCA9.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • ATPase activity (GO:0016887) |
| • transmembrane transport (GO:0055085) | • lipid transport (GO:0006869) |
| • plasma membrane (GO:0005886) |
Pathways
• ABC transporters (KEGG: hsa02010)
• Lipid metabolism and transport (Reactome: R-HSA-556833)
Protein Summary
ABCA9 encodes a 1,624-amino acid protein that is a member of the ABCA subfamily. The protein contains two transmembrane domains and two nucleotide-binding domains, characteristic of full ABC transporters. It is predicted to localize to the plasma membrane and endosomes, where it may facilitate the transport of lipids such as cholesterol. Expression data suggest a role in hepatic and renal lipid handling, though the exact substrate and physiological function remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA9 Knockout HEK293 Cell Line | EDJ-KQ7018 | Human | 10350 | Details Get a Quote |
| ABCA9 Knockout HeLa Cell Line | EDJ-KQ55389 | Human | 10350 | Details Get a Quote |
| ABCA9 Knockout A-549 Cell Line | EDJ-KQ63869 | Human | 10350 | Details Get a Quote |
| ABCA9 Knockout HCT 116 Cell Line | EDJ-KQ72327 | Human | 10350 | Details Get a Quote |
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