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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ABCB5
ATP binding cassette subfamily B member 5
Chromosome 7 · 7p21.1
NCBI Gene: 340273Ensembl: ENSG00000004846.17HGNC: HGNC:46UniProt: Q2M3G0
81PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneefflux transmembrane transporter activitytransmembrane transportregulation of membrane potentialasthmaAbnormality of the skeletal systemallergic diseaseesophageal disease
✦AI Summary

ABCB5 is an ATP-binding cassette transporter that functions as an energy-dependent efflux pump mediating multidrug resistance 1. The full-length ABCB5 protein (1257 amino acids) contains two transmembrane domains and two nucleotide-binding domains, conferring 1.5-3 fold resistance to taxanes and anthracyclines through reduced intracellular drug accumulation 1. Beyond chemoresistance, ABCB5 marks and is essential for limbal stem cell (LSC) maintenance; ABCB5-positive LSCs are required for corneal development and repair, with ABCB5 knockout mice showing defective corneal differentiation and impaired wound healing 2. ABCB5+ mesenchymal stem cells (MSCs) demonstrate therapeutic potential in regenerative medicine, including wound healing and angiogenesis; in clinical trials, topically applied ABCB5+ MSCs reduced diabetic foot ulcer surface area by 59-67% at 12 weeks without adverse events 3. Mechanistically, ABCB5 upregulates cellular glutathione levels independent of direct glutathione transport, enhancing cellular antioxidant defense 4. In hematologic malignancies, ABCB5 expression correlates with drug resistance and poor prognosis, particularly in acute lymphoblastic leukemia and acute myeloid leukemia 5. Recent genetic studies suggest ABCB5 may contribute to early neurological outcomes after ischemic stroke 6.

Sources cited
1
ABCB5 is a full-sized ABC transporter conferring 1.5-3 fold resistance to taxanes and anthracyclines through reduced drug accumulation
PMID: 22306008
2
ABCB5 marks limbal stem cells and is required for corneal development, maintenance, and repair; ABCB5+ LSCs can fully restore cornea in transplantation
PMID: 25030174
3
ABCB5+ MSCs show angiogenic potential and 59-67% wound surface area reduction in diabetic foot ulcers with no adverse events
PMID: 36064604
4
ABCB5 upregulates cellular glutathione levels to protect cells from toxins through increased glutamate precursor availability
PMID: 26666373
5
ABCB5 expression is upregulated in acute leukemias and correlates with drug resistance and relapsed/refractory disease
PMID: 22044138
6
ABCB5 is nominally associated with early neurological instability outcome after ischemic stroke in multi-ancestry GWAS
PMID: 35213696
7
ABCB5+ MSCs derived from human skin demonstrate robust homeostasis and trilineage differentiation potential for regenerative medicine
PMID: 39941329
Disease Associationsⓘ20
asthmaOpen Targets
0.44Moderate
Abnormality of the skeletal systemOpen Targets
0.41Moderate
allergic diseaseOpen Targets
0.36Weak
esophageal diseaseOpen Targets
0.32Weak
Varicose veinsOpen Targets
0.31Weak
childhood onset asthmaOpen Targets
0.31Weak
vein disorderOpen Targets
0.31Weak
lymphatic system diseaseOpen Targets
0.31Weak
cardiomyopathyOpen Targets
0.30Weak
allergic rhinitisOpen Targets
0.29Weak
Eczematoid dermatitisOpen Targets
0.28Weak
respiratory system diseaseOpen Targets
0.27Weak
rhinitisOpen Targets
0.27Weak
atopic asthmaOpen Targets
0.26Weak
HypercholesterolemiaOpen Targets
0.26Weak
type 1 diabetes nephropathyOpen Targets
0.25Weak
exostosisOpen Targets
0.22Weak
Abnormal thrombosisOpen Targets
0.22Weak
deep vein thrombosisOpen Targets
0.19Weak
placenta praeviaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCNJ11Protein interaction86%PROM1Protein interaction79%SVOPShared pathway33%CPAMD8Shared pathway33%MAB21L2Shared pathway25%SALL2Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
70%
Lung
60%
Liver
51%
Brain
28%
Heart
0%
Gene Interaction Network
Click a node to explore
ABCB5KCNJ11PROM1SVOPCPAMD8MAB21L2SALL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2M3G0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.88–1.18]
RankingsWhere ABCB5 stands among ~20K protein-coding genes
  • #5,840of 20,598
    Most Researched81
  • #12,340of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedABCB5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Translational development of ABCB5
PMID: 36064604
Stem Cell Res Ther · 2022
1.00
2
Islet Co-Expression of CD133 and ABCB5 in Human Retinoblastoma Specimens.
PMID: 34571550
Klin Monbl Augenheilkd · 2023
0.90
3
ABCB5 gene amplification in human leukemia cells.
PMID: 19477512
Leuk Res · 2009
0.80
4
Upregulation of cellular glutathione levels in human ABCB5- and murine Abcb5-transfected cells.
PMID: 26666373
BMC Pharmacol Toxicol · 2015
0.70
5
ABCB5 is a limbal stem cell gene required for corneal development and repair.
PMID: 25030174
Nature · 2014
0.60