ABCA10: ATP Binding Cassette Subfamily A Member 10
A comprehensive biomedical resource for ABCA10 gene, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | ABCA10 |
|---|---|
| Full Name | ATP binding cassette subfamily A member 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.3 |
| NCBI Gene ID | 10349 ncbi.nlm.nih.gov/gene/10349 |
| Ensembl ID | ENSG00000154263 |
| UniProt ID | Q8WWZ4 |
| OMIM ID | 612508 |
| HGNC ID | 14638 |
| Aliases | ABC-A10, EST698739 |
Description
ABCA10 (ATP Binding Cassette Subfamily A Member 10) is a protein-coding gene located on chromosome 17q24.3. It encodes a member of the ATP-binding cassette (ABC) transporter superfamily, specifically subfamily A. ABC transporters are involved in the transport of various molecules across cellular membranes. The function of ABCA10 is not fully characterized, but it is thought to play a role in lipid homeostasis and may be involved in macrophage lipid metabolism. Expression data suggest broad tissue distribution with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tangier disease (possible modifier) | ABCA10 may influence cellular cholesterol efflux; variants could modulate disease severity | Limited; inferred from family studies and functional homology to ABCA1 (OMIM #205400) |
| Atherosclerosis (candidate) | Potential role in macrophage lipid transport affecting foam cell formation | In silico and expression studies; no direct clinical evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 5.1 | Low |
| Brain | 2.4 | Low |
| Heart | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line; highest expression |
| A549 | 6.7 | Lung carcinoma cell line |
| HEK293 | 3.4 | Embryonic kidney cells |
| K562 | 1.1 | Leukemia cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% (gnomAD) | Unknown; predicted damaging by SIFT |
| c.2567_2568del (p.Leu856fs) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants are predicted to cause loss of function, potentially impairing lipid transport.
Gain of Function (GOF)
No gain-of-function variants reported for ABCA10.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATPase activity |
| • transmembrane transport | • lipid transport |
| • plasma membrane | • integral component of membrane |
Pathways
• ABC transporters (KEGG: hsa02010)
• Lipid metabolism and transport
Protein Summary
ABCA10 is a 1543-amino acid protein belonging to the ABCA subfamily. It contains two transmembrane domains and two nucleotide-binding folds, typical of full-size ABC transporters. The protein is predicted to localize to the plasma membrane and may function in lipid export. Structural homology with ABCA1 suggests a role in cholesterol and phospholipid transport, though direct substrates remain unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA10 Knockout HEK293 Cell Line | EDJ-KQ7017 | Human | 10349 | Details Get a Quote |
| ABCA10 Knockout HeLa Cell Line | EDJ-KQ55388 | Human | 10349 | Details Get a Quote |
| ABCA10 Knockout A-549 Cell Line | EDJ-KQ63868 | Human | 10349 | Details Get a Quote |
| ABCA10 Knockout HCT 116 Cell Line | EDJ-KQ72326 | Human | 10349 | Details Get a Quote |
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