ABCB5 (ATP binding cassette subfamily B member 5)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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340273 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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ATP binding cassette subfamily B member 5 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ABCB5 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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ABCB5alpha, ABCB5beta, EST422562 |
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Chromosome
Chromosome number
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7 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7p21.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 m |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | ||||||||||||||||||||||||||
| UniProt ID | Q2M3G0 | |||||||||||||||||||||||||
| Protein name | ATP-binding cassette sub-family B member 5 (ABCB5 P-gp) (P-glycoprotein ABCB5) (EC 7.6.2.2) | |||||||||||||||||||||||||
| Protein function | Energy-dependent efflux transporter responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:12960149, PubMed:15205344, PubMed:15899824, PubMed:22306008). Specifically present in limbal stem cells, where it plays a key ro | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | 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 mela | |||||||||||||||||||||||||
| Sequence | ||||||||||||||||||||||||||
| Sequence length | 1257 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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