ABCA13: ATP Binding Cassette Subfamily A Member 13
A large ABC transporter gene implicated in psychiatric and metabolic disorders
Gene Information Card
| Symbol | ABCA13 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily A Member 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p12.3 |
| NCBI Gene ID | 154664 ncbi.nlm.nih.gov/gene/154664 |
| Ensembl ID | ENSG00000179869 |
| UniProt ID | Q86UQ4 |
| OMIM ID | 607533 |
| HGNC ID | 14638 |
| Aliases | FLJ16398, KIAA1992 |
Description
ABCA13 encodes a member of the ATP-binding cassette (ABC) transporter superfamily, subfamily A. This large protein is predicted to function in lipid transport across cellular membranes. Expression is enriched in brain, testis, and thyroid. Variants in ABCA13 have been associated with schizophrenia, bipolar disorder, and major depressive disorder in genetic studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Genetic association; rare variants may disrupt transporter function | PMID: 19012874, ClinVar |
| Bipolar disorder | Rare missense variants identified in case-control studies | PMID: 19012874 |
| Major depressive disorder | Association with rare coding variants | PMID: 19012874 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 2.3 | Low |
| Testis | 1.8 | Low |
| Thyroid | 1.5 | Low |
| Adipose tissue | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Very low |
| HepG2 (liver) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1070G>A (p.Arg357His) | Missense | Rare | Unknown; predicted possibly damaging |
| c.3449C>T (p.Thr1150Met) | Missense | Rare | Unknown; predicted benign |
| c.5801G>A (p.Arg1934Gln) | Missense | Rare | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • lipid transport | • membrane |
| • integral component of membrane | • ABC-type transporter activity |
Pathways
• ABC transporters (KEGG: hsa02010)
Protein Summary
ABCA13 is a 5,058-amino acid ABC transporter with two transmembrane domains and two nucleotide-binding domains. It is predicted to mediate lipid export. Expression is low in most tissues, with highest levels in brain and testis. Its large size and low expression have made functional studies challenging.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA13 Knockout HEK293 Cell Line | EDJ-KQ12245 | Human | 154664 | Details Get a Quote |
| ABCA13 Knockout HeLa Cell Line | EDJ-KQ58741 | Human | 154664 | Details Get a Quote |
| ABCA13 Knockout A-549 Cell Line | EDJ-KQ67227 | Human | 154664 | Details Get a Quote |
| ABCA13 Knockout HCT 116 Cell Line | EDJ-KQ75625 | Human | 154664 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
