ABCC11 (ATP binding cassette subfamily C member 11)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
85320
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily C member 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCC11
Synonyms (NCBI Gene) Gene synonyms aliases
EWWD, MRP8, WW
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs387906296 ACGGATTGTGCGCTGGATCAGGGTGTC>- Affects Non coding transcript variant, coding sequence variant, genic downstream transcript variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(12)
miRTarBase ID miRNA Experiments Reference
MIRT016799 hsa-miR-335-5p Microarray 18185580
MIRT758285 hsa-miR-2115 CLIP-seq
MIRT758286 hsa-miR-4434 CLIP-seq
MIRT758287 hsa-miR-4516 CLIP-seq
MIRT758288 hsa-miR-4768-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(38)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005773 Component Vacuole IEA
GO:0005774 Component Vacuolar membrane IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
607040 14639 ENSG00000121270
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID Q96J66
Protein name ATP-binding cassette sub-family C member 11 (EC 7.6.2.2) (EC 7.6.2.3) (Multidrug resistance-associated protein 8)
Protein function ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds and xenobiotics from cells. Plays a role in physiological processes involving bile acids, conjugated steroids and cyclic nucleotide
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00664 ABC_membrane 167 → 431 ABC transporter transmembrane region Family
PF00005 ABC_tran 527 → 662 ABC transporter Domain
PF00664 ABC_membrane 806 → 1092 ABC transporter transmembrane region Family
PF00005 ABC_tran 1158 → 1306 ABC transporter Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in apocrine glands (at protein level) (PubMed:19383836, PubMed:19710689). Expressed at moderate levels in breast and testis and at very low levels in liver, brain and placenta (PubMed:11483364, PubMed:11591886, PubMed:1635981
Sequence 
MTRKRTYWVPNSSGGLVNRGIDIGDDMVSGLIYKTYTLQDGPWSQQERNPEAPGRAAVPP
WGKYDAALRTMIPFRPKPRFPAPQPLDNAGLFSYLTVSWLTPLMIQSLRSRLDENTIPPL
SVHDASDKNVQRLHRLWEEEVSRRGIEKASVLLVMLRFQRTRLIFDALLGICFCIASVLG
PILIIPKILEYSEEQLGNVVHGVGLCFALFLSECVKSLSFSSSWIINQRTAIRFRAAVSS
FAFEKLIQFKSVIHITSGEAISFFTGDVNYLFEGVCYGPLVLITCASLVICSISSYFIIG
YTAFIAILCYLLVFPLAVFMTRMAVKAQHHTSEVSDQRIRVTSEVLTCIKLIKMYTWEKP
FAKIIEDLRRKERKLLEKCGLVQSLTSITLFIIPTVATAVWVLIHTSLKLKLTASMAFSM
LASLNLLRLSVFFVPIAVKGLTNSKSAVMRFKKFFLQESPVFYVQTLQDPSKALVFEEAT
LSWQQTCPGIVNGALELERNGHASEGMTRPRDALGPEEEGNSLGPELHKINLVVSKGMML
GVCGNTGSGKSSLLSAILEEMHLLEGSVGVQGSLAYVPQQAWIVSGNIRENILMGGAYDK
ARYLQVLHCCSLNRDLELLPFGDMTEIGERGLNLSGGQKQRISLARAVYSDRQIYLLDDP
LSAVDAHVGKHIFEECIKKTLRGKTVVLVTHQLQYLEFCGQIILLENGKICENGTHSELM
QKKGKYAQLIQKMHKEATSDMLQDTAKIAEKPKVESQALATSLEESLNGNAVPEHQLTQE
EEMEEGSLSWRVYHHYIQAAGGYMVSCIIFFFVVLIVFLTIFSFWWLSYWLEQGSGTNSS
RESNGTMADLGNIADNPQLSFYQLVYGLNALLLICVGVCSSGIFTKVTRKASTALHNKLF
NKVFRCPMSFFDTIPIGRLLNCFAGDLEQLDQLLPIFSEQFLVLSLMVIAVLLIVSVLSP
YILLMGAIIMVICFIYYMMFKKAIGVFKRLENYSRSPLFSHILNSLQGLSSIHVYGKTED
FISQFKRLTDAQNNYLLLFLSSTRWMALRLEIMTNLVTLAVALFVAFGISSTPYSFKVMA
VNIVLQLASSFQATARIGLETEAQFTAVERILQYMKMCVSEAPLHMEGTSCPQGWPQHGE
IIFQDYHMKYRDNTPTVLHGINLTIRGHEVVGIVGRTGSGKSSLGMALFRLVEPMAGRIL
IDGVDICSIGLEDLRSKLSVIPQDPVLLSGTIRFNLDPFDRHTDQQIWDALERTFLTKAI
SKFPKKLHTDVVENGGNFSVGERQLLCIARAVLRNSKIILIDEATASIDMETDTLIQRTI
REAFQGCTVLVIAHRVTTVLNCDHILVMGNGKVVEFDRPEVLRKKPGSLFAALMATATSS
LR
Sequence length 1382
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)
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Strabismus Strabismus N/A N/A GWAS
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 20718756, 29246834, 33879658
Alzheimer Disease Associate 34103633
Body Odor Associate 19650936
Breast Neoplasms Associate 11591886, 15084249, 23288347, 27268641, 27588398, 29552773, 30947698, 33334016
Carcinogenesis Associate 23288347
Carcinoma Hepatocellular Associate 35363194
Carcinoma Non Small Cell Lung Associate 33530206
Cat Scratch Disease Associate 2199095
Colorectal Neoplasms Associate 35051860
Drug Related Side Effects and Adverse Reactions Associate 20718756