Gene Gene information from NCBI Gene database.
Entrez ID 340273
Gene name ATP binding cassette subfamily B member 5
Gene symbol ABCB5
Synonyms (NCBI Gene)
ABCB5alphaABCB5betaEST422562
Chromosome 7
Chromosome location 7p21.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
272
miRTarBase ID miRNA Experiments Reference
MIRT023509 hsa-miR-1-3p Microarray 18668037
MIRT631256 hsa-miR-580-5p HITS-CLIP 23824327
MIRT631255 hsa-miR-105-5p HITS-CLIP 23824327
MIRT631254 hsa-miR-7853-5p HITS-CLIP 23824327
MIRT631253 hsa-miR-6890-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001654 Process Eye development IEA
GO:0001654 Process Eye development ISS
GO:0005524 Function ATP binding IEA
GO:0005886 Component Plasma membrane IDA 12960149
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611785 46 ENSG00000004846
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00664 ABC_membrane 48 337 ABC transporter transmembrane region Family
PF00005 ABC_tran 404 553 ABC transporter Domain
PF00664 ABC_membrane 692 966 ABC transporter transmembrane region Family
PF00005 ABC_tran 1033 1184 ABC transporter Domain
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
MENSERAEEMQENYQRNGTAEEQPKLRKEAVGSIEIFRFADGLDITLMILGILASLVNGA
CLPLMPLVLGEMSDNLISGCLVQTNTTNYQNCTQSQEKLNEDMTLLTLYYVGIGVAALIF
GYIQISLWIITAARQTKRIRKQFFHSVLAQDIGWFDSCDIGELNTRMTDDIDKISDGIGD
KIALLFQNMSTFSIGLAVGLVKGWKLTLVTLSTSPLIMASAAACSRMVISLTSKELSAYS
KAGAVAEEVLSSIRTVIAFRAQEKELQRYTQNLKDAKDFGIKRTIASKVSLGAVYFFMNG
TYGLAFWYGTSLILNGEPGYTIGTVLAVFFSVIHSSY
CIGAAVPHFETFAIARGAAFHIF
QVIDKKPSIDNFSTAGYKPESIEGTVEFKNVSFNYPSRPSIKILKGLNLRIKSGETVALV
GLNGSGKSTVVQLLQRLYDPDDGFIMVDENDIRALNVRHYRDHIGVVSQEPVLFGTTISN
NIKYGRDDVTDEEMERAAREANAYDFIMEFPNKFNTLVGEKGAQMSGGQKQRIAIARALV
RNPKILILDEATS
ALDSESKSAVQAALEKASKGRTTIVVAHRLSTIRSADLIVTLKDGML
AEKGAHAELMAKRGLYYSLVMSQDIKKADEQMESMTYSTERKTNSLPLHSVKSIKSDFID
KAEESTQSKEISLPEVSLLKILKLNKPEWPFVVLGTLASVLNGTVHPVFSIIFAKIITMF
GNNDKTTLKHDAEIYSMIFVILGVICFVSYFMQGLFYGRAGEILTMRLRHLAFKAMLYQD
IAWFDEKENSTGGLTTILAIDIAQIQGATGSRIGVLTQNATNMGLSVIISFIYGWEMTFL
ILSIAPVLAVTGMIETAAMTGFANKDKQELKHAGKIATEALENIRTIVSLTREKAFEQMY
EEMLQTQHRNTSKKAQIIGSCYAFSHAFIYFAYAAGFRFGAYLIQAGRMTPEGMFIVFTA
IAYGAM
AIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLEFREV
SFFYPCRPDVFILRGLSLSIERGKTVAFVGSSGCGKSTSVQLLQRLYDPVQGQVLFDGVD
AKELNVQWLRSQIAIVPQEPVLFNCSIAENIAYGDNSRVVPLDEIKEAANAANIHSFIEG
LPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATS
ALDNDSEKVVQHALDK
ARTGRTCLVVTHRLSAIQNADLIVVLHNGKIKEQGTHQELLRNRDIYFKLVNAQSVQ
Sequence length 1257
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Uncertain significance rs373783857 RCV005930818
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 33115496
Breast Neoplasms Associate 20649952, 28281973, 28677036, 29552773
Calcinosis Cutis Associate 28704989
Carcinoma Non Small Cell Lung Associate 22980976
Choriocarcinoma Associate 24300535
Colorectal Neoplasms Associate 33759959
Leukemia T Cell Associate 31053105
Melanoma Associate 15760339, 22555176, 23192276, 23770371, 25105565, 25115303, 25223735, 25703167, 25830652, 27560924, 28293855, 28677036, 28704989, 29929490, 30383985
View all (8 more)
Melanoma Stimulate 31035967
Neoplasm Metastasis Stimulate 28281973