ABCB5: ATP Binding Cassette Subfamily B Member 5
A key regulator of melanocyte biology, drug resistance, and cancer stem cell function.
Gene Information Card
| Symbol | ABCB5 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily B Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p21.1 |
| NCBI Gene ID | 340273 ncbi.nlm.nih.gov/gene/340273 |
| Ensembl ID | ENSG00000164898 |
| UniProt ID | Q2M3G0 |
| OMIM ID | 611785 |
| HGNC ID | 46 |
| Aliases | ABC.5, EST422562, MDR5, P-glycoprotein-5 |
Description
ABCB5 (ATP Binding Cassette Subfamily B Member 5) is a protein-coding gene that encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a transmembrane transporter involved in drug resistance, particularly in melanoma and other cancers. ABCB5 is also a marker for cancer stem cells and plays a role in melanocyte biology, including cell fusion and differentiation. It is expressed in various tissues, with highest levels in the skin and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | ABCB5 expression is associated with drug resistance and cancer stem cell phenotype; promotes tumor growth and metastasis. | PMID: 18413744, PMID: 19029980 |
| Colorectal Cancer | ABCB5 overexpression linked to chemoresistance and poor prognosis. | PMID: 23563577 |
| Hepatocellular Carcinoma | ABCB5 contributes to multidrug resistance and stemness in liver cancer cells. | PMID: 25921543 |
| Breast Cancer | ABCB5 expression correlates with aggressive subtypes and resistance to chemotherapy. | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Adrenal Gland | 4.1 | Low |
| Lung | 2.7 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A375 (Melanoma) | 15.8 | High expression; associated with drug resistance |
| SK-MEL-28 (Melanoma) | 12.1 | Moderate expression |
| HCT116 (Colorectal) | 9.4 | Moderate expression |
| MCF7 (Breast) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1516C>T (p.Arg506*) | Nonsense | Rare | Loss of function; may affect transporter activity |
| c.2104G>A (p.Gly702Arg) | Missense | Rare | Unknown functional effect |
| c.2788C>T (p.Arg930Cys) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg506*) are predicted to result in a truncated, non-functional protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ABCB5.
Dominant Negative (DN)
No dominant-negative mutations have been described for ABCB5.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • ABC-type transporter activity | • transmembrane transport |
| • xenobiotic transmembrane transport | • drug transmembrane transport |
| • plasma membrane | • integral component of membrane |
Pathways
• ABC transporters
• Drug metabolism - other enzymes
• Transport of small molecules
Protein Summary
ABCB5 is a 1257-amino acid protein belonging to the ABC transporter family. It contains two transmembrane domains and two nucleotide-binding domains. The protein localizes to the plasma membrane and functions as an efflux pump for various substrates, including chemotherapeutic drugs. ABCB5 is implicated in multidrug resistance in cancer, particularly melanoma, and is considered a marker for cancer stem cells. It also plays a role in melanocyte differentiation and cell fusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCB5 Knockout HEK293 Cell Line | EDJ-KQ8023 | Human | 340273 | Details Get a Quote |
| ABCB5 Knockout HeLa Cell Line | EDJ-KQ59674 | Human | 340273 | Details Get a Quote |
| ABCB5 Knockout A-549 Cell Line | EDJ-KQ68146 | Human | 340273 | Details Get a Quote |
| ABCB5 Knockout HCT 116 Cell Line | EDJ-KQ76523 | Human | 340273 | Details Get a Quote |
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