ABCC11 (ATP binding cassette subfamily C member 11)

Gene

• Entrez ID: 85320
• Gene name: ATP binding cassette subfamily C member 11
• Gene symbol: ABCC11
• Synonyms (NCBI Gene): EWWD, MRP8, WW
• Chromosome: 16
• Chromosome location: 16q12.1
• Summary: 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 ID	Visualize variation	Clinical significance	Consequence
rs387906296	ACGGATTGTGCGCTGGATCAGGGTGTC>-	Affects	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, inframe deletion

miRNA

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
MIRT758289	hsa-miR-516a-3p	CLIP-seq
MIRT758290	hsa-miR-665	CLIP-seq
MIRT1923647	hsa-miR-1202	CLIP-seq
MIRT1923648	hsa-miR-1207-3p	CLIP-seq
MIRT1923649	hsa-miR-22	CLIP-seq
MIRT1923650	hsa-miR-3194-5p	CLIP-seq
MIRT1923651	hsa-miR-3972	CLIP-seq

Gene ontology (GO)

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
GO:0005886	Component	Plasma membrane	IDA	16359813
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008514	Function	Organic anion transmembrane transporter activity	IBA
GO:0008514	Function	Organic anion transmembrane transporter activity	IDA	15537867
GO:0008559	Function	ABC-type xenobiotic transporter activity	IDA	15537867
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0015216	Function	Purine nucleotide transmembrane transporter activity	IBA
GO:0015216	Function	Purine nucleotide transmembrane transporter activity	IDA	12764137, 15537867
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IDA	15537867
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IEA
GO:0015432	Function	ABC-type bile acid transporter activity	IDA	15537867
GO:0015711	Process	Organic anion transport	IDA	15537867, 16359813
GO:0015721	Process	Bile acid and bile salt transport	IBA
GO:0015721	Process	Bile acid and bile salt transport	IDA	15537867
GO:0015865	Process	Purine nucleotide transport	IDA	12764137, 15537867
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	16359813
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042908	Process	Xenobiotic transport	IDA	15537867
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	TAS
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071716	Process	Leukotriene transport	IDA	15537867
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0140359	Function	ABC-type transporter activity	IBA
GO:0140359	Function	ABC-type transporter activity	IEA

Other IDs

• MIM: 607040
• HGNC: 14639
• e!Ensembl: ENSG00000121270

Protein

• 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

Pathways

KEGG:

ABC transporters

Reactome:

ABC-family proteins mediated transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
APOCRINE GLAND SECRETION, VARIATION IN	Benign; Affects	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Axillary odor	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST FIBROCYSTIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colostrum secretion	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Associate	20718756, 29246834, 33879658	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Associate	34103633	★☆☆☆☆ Found in Text Mining only
Body Odor	Associate	19650936	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	11591886, 15084249, 23288347, 27268641, 27588398, 29552773, 30947698, 33334016	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	23288347	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	35363194	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	33530206	★☆☆☆☆ Found in Text Mining only
Cat Scratch Disease	Associate	2199095	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	35051860	★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	20718756	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Associate	19650936	★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Associate	2199095	★☆☆☆☆ Found in Text Mining only
Granuloma	Associate	2199095	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	19240178, 32708452	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	20718756	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	23288347	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	33879658	★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes Hereditary	Associate	30947698	★☆☆☆☆ Found in Text Mining only
Pathological Conditions Anatomical	Associate	2199095	★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Associate	34951141	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	31852133	★☆☆☆☆ Found in Text Mining only