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Aliases for ABCB5 Gene

Aliases for ABCB5 Gene

  • ATP Binding Cassette Subfamily B Member 5 2 3 5
  • P-Glycoprotein ABCB5 2 3 4
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 5 2 3
  • ATP-Binding Cassette Protein 2 3
  • ABCB5 P-Gp 3 4
  • ATP-Binding Cassette Sub-Family B Member 5 3
  • EC 56
  • ABCB5alpha 3
  • ABCB5beta 3
  • EST422562 3
  • EC 3.6.3 56

External Ids for ABCB5 Gene

Previous GeneCards Identifiers for ABCB5 Gene

  • GC07U990157
  • GC07P020328
  • GC07P020431
  • GC07P020412
  • GC07P020460
  • GC07P020653
  • GC07P020544

Summaries for ABCB5 Gene

Entrez Gene Summary for ABCB5 Gene

  • ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ABCB5 Gene

ABCB5 (ATP Binding Cassette Subfamily B Member 5) is a Protein Coding gene. Diseases associated with ABCB5 include Conjunctival Cancer and Borna Disease. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include ATPase activity and efflux transmembrane transporter activity. An important paralog of this gene is ABCB4.

UniProtKB/Swiss-Prot for ABCB5 Gene

  • Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair.

Tocris Summary for ABCB5 Gene

  • ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.

Gene Wiki entry for ABCB5 Gene

Additional gene information for ABCB5 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB5 Gene

Genomics for ABCB5 Gene

GeneHancer (GH) Regulatory Elements for ABCB5 Gene

Promoters and enhancers for ABCB5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I020619 Promoter 0.5 EPDnew 550.8 +4.5 4474 0.1 ABCB5 ENSG00000223866
GH07I020647 Promoter 0.5 EPDnew 550.3 +32.1 32120 0.1 ABCB5 ENSG00000223866 GC07P020706
GH07I020782 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 11.2 +170.1 170074 5.3 HDGF PKNOX1 SMAD1 ARNT SIN3A ZNF2 POLR2B ZNF143 ZNF548 MCM3 SP8 ABCB5 GC07P020706
GH07I020577 Enhancer 0.2 ENCODE 11.3 -37.3 -37320 0.7 ABCB5 EEF1A1P27 GC07P020414
GH07I020595 Enhancer 1.1 FANTOM5 Ensembl ENCODE 0.4 -18.3 -18297 1.8 ZBTB21 JUN ZFP64 CEBPB CEBPG JUND ZNF629 FOS MYC ZNF558 ITGB8 LOC402641 ABCB5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCB5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCB5 gene promoter:

Genomic Locations for ABCB5 Gene

Genomic Locations for ABCB5 Gene
161,832 bases
Plus strand

Genomic View for ABCB5 Gene

Genes around ABCB5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB5 Gene

Proteins for ABCB5 Gene

  • Protein details for ABCB5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family B member 5
    Protein Accession:
    Secondary Accessions:
    • A4D131
    • A7BKA4
    • B5MD19
    • B7WPL1
    • F8QQP8
    • F8QQP9
    • J3KQ04
    • Q2M3I5
    • Q5I5Q7
    • Q5I5Q8
    • Q6KG50
    • Q6XFQ5
    • Q8IXA1

    Protein attributes for ABCB5 Gene

    1257 amino acids
    Molecular mass:
    138641 Da
    Quaternary structure:
    No Data Available
    • Acts as a marker of stem-like cells (CSC) in a number of malignancies (PubMed:24934811). Associated with clinical drug resistance, tumor progression and disease recurrence in malignant melanoma and acute leukemias. Responsible for the resistance to doxorubicin of a subset of malignant melanomas. ABCB5-expressing cells selectively survive when exposed to dacarbazine drug, the reference treatment of metastatic melanoma, vemurafenib and other various chemotherapeutic drugs, suggesting that anti-melanoma chemotherapy participates in the chemoresistance acquisition by selecting tumor cell subpopulations expressing ABCB5 (PubMed:22784549, PubMed:22044138, PubMed:22675422, PubMed:23770371, PubMed:24934811). Present in melanoma-initiating cells that acts as an enhancer of tumor growth by promoting CSC maintenance and tumor growth by controlling IL-1beta (IL1B) secretion to maintain slow-cycling, chemoresistant cells through an IL-1beta (IL1B)/IL8/CXCR1 cytokine signaling circuit (PubMed:24934811).
    • Sequence=AAN76500.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ03033.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCB5 Gene


neXtProt entry for ABCB5 Gene

Selected DME Specific Peptides for ABCB5 Gene


Post-translational modifications for ABCB5 Gene

  • Glycosylation at Asn344, posLast=374374, posLast=465465, Asn659, posLast=743743, Asn17, Asn85, posLast=9191, posLast=371371, Asn390, and posLast=423423

Domains & Families for ABCB5 Gene

Gene Families for ABCB5 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
genes like me logo Genes that share domains with ABCB5: view

Function for ABCB5 Gene

Molecular function for ABCB5 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 5,ubiquitously expressed
UniProtKB/Swiss-Prot Function:
Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair.

Enzyme Numbers (IUBMB) for ABCB5 Gene

Phenotypes From GWAS Catalog for ABCB5 Gene

Gene Ontology (GO) - Molecular Function for ABCB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0008559 xenobiotic transmembrane transporting ATPase activity TAS --
GO:0015562 efflux transmembrane transporter activity IDA 12960149
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
genes like me logo Genes that share ontologies with ABCB5: view
genes like me logo Genes that share phenotypes with ABCB5: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABCB5 Gene

Localization for ABCB5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB5 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCB5 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
peroxisome 2
extracellular 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for ABCB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 12960149
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCB5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCB5 Gene

Pathways & Interactions for ABCB5 Gene

genes like me logo Genes that share pathways with ABCB5: view

Pathways by source for ABCB5 Gene

1 KEGG pathway for ABCB5 Gene

Gene Ontology (GO) - Biological Process for ABCB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006855 drug transmembrane transport IEA --
GO:0030154 cell differentiation IEA --
GO:0042391 regulation of membrane potential IDA 12960149
GO:0042908 xenobiotic transport IEA --
genes like me logo Genes that share ontologies with ABCB5: view

No data available for SIGNOR curated interactions for ABCB5 Gene

Drugs & Compounds for ABCB5 Gene

(10) Drugs for ABCB5 Gene - From: DrugBank, PharmGKB, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bilastine Approved, Investigational Pharma Transporter, substrate, inhibitor 0
Dasabuvir Approved Pharma Transporter, substrate 0
Delafloxacin Approved, Investigational Pharma Transporter, substrate 0
HKI-272 Approved, Investigational Pharma Transporter, inhibitor Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 0
Naldemedine Approved, Investigational Pharma Transporter, substrate 0

(3) Additional Compounds for ABCB5 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for ABCB5 Gene

Compound Action Cas Number
Fumitremorgin C Inhibitor of BCRP-mediated multidrug resistance 118974-02-0
Ko 143 Potent and selective BCRP inhibitor 461054-93-3
Pyrimethamine Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor 58-14-0

(1) ApexBio Compounds for ABCB5 Gene

Compound Action Cas Number
Elacridar BCRP inhibitor 143664-11-3
genes like me logo Genes that share compounds with ABCB5: view

Drug Products

Transcripts for ABCB5 Gene

Unigene Clusters for ABCB5 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: - -
SP2: -
SP3: -

Relevant External Links for ABCB5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCB5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCB5 Gene

mRNA differential expression in normal tissues according to GTEx for ABCB5 Gene

This gene is overexpressed in Breast - Mammary Tissue (x11.4), Adipose - Subcutaneous (x7.8), Cervix - Ectocervix (x6.6), and Adipose - Visceral (Omentum) (x4.3).

Protein differential expression in normal tissues from HIPED for ABCB5 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ABCB5 Gene

Protein tissue co-expression partners for ABCB5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABCB5 Gene:


SOURCE GeneReport for Unigene cluster for ABCB5 Gene:


mRNA Expression by UniProt/SwissProt for ABCB5 Gene:

Tissue specificity: Expressed by CD133-expressing progenitor cells among epidermal melanocytes (at protein level). Widely expressed with specific expression in pigment cells. Highly expressed in several malignant tissues: highly expressed in clinical melanomas, with low expression in normal skin. In melanoma, marks malignant melanoma-initiating cells (MMIC), in which clinical virulence resides as a consequence of unlimited self-renewal capacity, resulting in inexorable tumor progression and metastasis. Also highly expressed in a number of leukemia cells. Expressed in basal limbal epithelium.

Evidence on tissue expression from TISSUES for ABCB5 Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with ABCB5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCB5 Gene

Orthologs for ABCB5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABCB5 34 33
  • 98.75 (n)
(Bos Taurus)
Mammalia LOC536724 33
  • 89.84 (n)
ABCB5 34
  • 88 (a)
(Canis familiaris)
Mammalia ABCB5 34 33
  • 89.18 (n)
(Mus musculus)
Mammalia Abcb5 16 34 33
  • 82.32 (n)
(Rattus norvegicus)
Mammalia Abcb5 33
  • 81.34 (n)
(Gallus gallus)
Aves -- 34
  • 50 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485969 33
  • 64.56 (n)
(Danio rerio)
Actinopterygii abcb5 34
  • 47 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mdr49 34
  • 39 (a)
Mdr50 34
  • 38 (a)
Mdr65 34
  • 38 (a)
CG10226 34
  • 36 (a)
(Caenorhabditis elegans)
Secernentea pgp-9 34
  • 41 (a)
pgp-3 34
  • 37 (a)
pgp-6 34
  • 36 (a)
pgp-7 34
  • 36 (a)
pgp-5 34
  • 35 (a)
pgp-12 34
  • 34 (a)
pgp-14 34
  • 34 (a)
pgp-8 34
  • 34 (a)
pgp-13 34
  • 33 (a)
pgp-11 34
  • 30 (a)
pgp-10 34
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 34
  • 25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PGP13 33
  • 49.33 (n)
(Oryza sativa)
Liliopsida Os.41637 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
Species where no ortholog for ABCB5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCB5 Gene

Gene Tree for ABCB5 (if available)
Gene Tree for ABCB5 (if available)

Paralogs for ABCB5 Gene

Paralogs for ABCB5 Gene

genes like me logo Genes that share paralogs with ABCB5: view

Variants for ABCB5 Gene

Sequence variations from dbSNP and Humsavar for ABCB5 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
VAR_035731 A colorectal cancer sample p.Glu675Val
VAR_062662 A pancreatic ductal adenocarcinoma sample p.Ala880Thr
rs1000011578 -- 20,675,309(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000035623 -- 20,719,839(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000072924 -- 20,724,454(+) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCB5 Gene

Variant ID Type Subtype PubMed ID
nsv606371 CNV loss 21841781
nsv606370 CNV loss 21841781
nsv5651 CNV deletion 18451855
nsv524866 CNV loss 19592680
nsv522999 CNV loss 19592680
nsv522599 CNV loss 19592680
nsv517268 CNV loss 19592680
nsv514408 CNV loss 21397061
nsv511951 CNV loss 21212237
nsv511370 CNV loss 21212237
nsv499219 CNV loss 21111241
nsv1149303 CNV deletion 26484159
nsv1137196 CNV deletion 24896259
nsv1133026 CNV deletion 24896259
nsv1132039 CNV deletion 24896259
nsv1125907 CNV tandem duplication 24896259
nsv1030726 CNV gain 25217958
esv3612495 CNV gain 21293372
esv3612494 CNV loss 21293372
esv3541308 CNV deletion 23714750
esv3281385 CNV deletion 24192839
esv29258 CNV loss 19812545
esv2734109 CNV deletion 23290073
esv2734108 CNV deletion 23290073
esv2734107 CNV deletion 23290073
esv2734105 CNV deletion 23290073
esv2668344 CNV deletion 23128226
esv2663031 CNV deletion 23128226
esv2654247 CNV deletion 19546169
esv2551418 CNV deletion 19546169
esv2474858 CNV loss 19546169
esv2340535 CNV deletion 18987734
esv2306944 CNV deletion 18987734
esv1003420 CNV deletion 20482838
dgv3504n106 CNV deletion 24896259
dgv1187e199 CNV deletion 23128226
dgv11233n54 CNV loss 21841781
dgv11232n54 CNV loss 21841781
dgv11231n54 CNV loss 21841781
dgv11230n54 CNV loss 21841781
dgv11229n54 CNV loss 21841781
dgv11228n54 CNV loss 21841781

Variation tolerance for ABCB5 Gene

Residual Variation Intolerance Score: 99.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.45; 99.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCB5 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB5 Gene

Disorders for ABCB5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ABCB5 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
conjunctival cancer
  • conjunctival tumor
borna disease
  • enzootic encephalomyelitis
dyschromatosis universalis hereditaria
  • duh
  • malignant melanoma
- elite association - COSMIC cancer census association via MalaCards
Search ABCB5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCB5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCB5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCB5 Gene

Publications for ABCB5 Gene

  1. Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter. (PMID: 12960149) Frank NY … Frank MH (The Journal of biological chemistry 2003) 2 3 4 58
  2. ABCB5 is a limbal stem cell gene required for corneal development and repair. (PMID: 25030174) Ksander BR … Frank NY (Nature 2014) 3 4 58
  3. ABCB5 maintains melanoma-initiating cells through a proinflammatory cytokine signaling circuit. (PMID: 24934811) Wilson BJ … Frank MH (Cancer research 2014) 3 4 58
  4. Genetically determined ABCB5 functionality correlates with pigmentation phenotype and melanoma risk. (PMID: 23770371) Lin JY … Frank MH (Biochemical and biophysical research communications 2013) 3 4 58
  5. ABCB5 expression and cancer stem cell hypothesis in oral squamous cell carcinoma. (PMID: 22784549) Grimm M … Hoefert S (European journal of cancer (Oxford, England : 1990) 2012) 3 4 58

Products for ABCB5 Gene

Sources for ABCB5 Gene

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