ABCC11 Gene - ATP Binding Cassette Subfamily C Member 11

Protein Coding
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, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the MRP subfamily which is involved in multi-... See more...

Aliases for ABCC11 Gene

Aliases for ABCC11 Gene

  • GeneCards Symbol: ABCC11 2
  • ATP Binding Cassette Subfamily C Member 11 2 3 5
  • MRP8 2 3 4 5
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 11 2 3
  • ATP-Binding Cassette Sub-Family C Member 11 3 4
  • Multidrug Resistance-Associated Protein 8 3 4
  • ATP-Binding Cassette Transporter Sub-Family C Member 11 3
  • ATP-Binding Cassette Transporter MRP8 3
  • ATP-Binding Cassette Protein C11 3
  • Multi-Resistance Protein 8 3
  • EC 7.6.2.2 4
  • EC 7.6.2.3 4
  • EWWD 3
  • WW 3

External Ids for ABCC11 Gene

Previous GeneCards Identifiers for ABCC11 Gene

  • GC16M038615
  • GC16M048249
  • GC16M047938
  • GC16M047978
  • GC16M046758
  • GC16M034090

Summaries for ABCC11 Gene

Entrez Gene Summary for ABCC11 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, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCC11 Gene

ABCC11 (ATP Binding Cassette Subfamily C Member 11) is a Protein Coding gene. Diseases associated with ABCC11 include Apocrine Gland Secretion, Variation In and Lateral Sinus Thrombosis. 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 ATP hydrolysis activity and organic anion transmembrane transporter activity. An important paralog of this gene is ABCC12.

UniProtKB/Swiss-Prot Summary for ABCC11 Gene

  • ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Participates in physiological processes involving bile acids, conjugated steroids and cyclic nucleotides (PubMed:12764137, PubMed:15537867). Stimulates the ATP-dependent uptake of a range of physiological lipophilic anions, including the glutathione S-conjugates leukotriene C4 and dinitrophenyl S-glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone 3-sulfate, glucuronides such as estradiol 17-beta-D-glucuronide (E(2)17betaG), the monoanionic bile acids glycocholate and taurocholate, and methotrexate (PubMed:15537867, PubMed:25896536). Enhances also the cellular extrusion of cAMP and cGMP (PubMed:12764137, PubMed:15537867). Confers resistance to anticancer drugs, such as 5-fluorouracil (5-FU) and methotrexate (PubMed:25896536, PubMed:15537867, PubMed:12764137). Probably functions to secrete earwax (PubMed:16444273, PubMed:19383836). Required for the secretion of components contributing to axillary odor formation (PubMed:19710689, PubMed:12764137, PubMed:15537867, PubMed:16444273, PubMed:19383836, PubMed:25896536).

Gene Wiki entry for ABCC11 Gene

Additional gene information for ABCC11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB Summary , Rfam classification and piRNA Summary for ABCC11 Gene

Genomics for ABCC11 Gene

GeneHancer (GH) Regulatory Elements (see citations)

Download GeneHancer 2017 data
Promoters and enhancers for ABCC11 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J048243 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 261.10 460.74 +5.0 0 3.2 HCFC1 KLF6 SP1 ZNF580 POLR2A ZNF600 ZIC2 KLF9 DNMT3B CEBPG LONP2 ABCC11 SIAH1 UBA52P8
GH16J048251 Enhancer 0.5 Ensembl ENCODE 261.10 121.15 -1.0 0 2.0 JUND RAD21 ABCC11 LONP2 lnc-PHKB-8 SIAH1
GH16J048203 Enhancer 1.1 Ensembl ENCODE 20.90 22.34 +45.2 3 2.0 ATF3 KLF9 DNMT3B YY1 CEBPA SSRP1 MXD4 KDM6A KLF11 SAP130 LONP2 ABCC11 HSALNG0111229 ENSG00000261538 ABCC12
GH16J048299 Enhancer 1.2 RefSeq Ensembl ENCODE 11.10 12.85 -50.1 3 2.1 ATF3 CEBPG CEBPA CEBPB ZNF592 MAX EP300 FEZF1 NFE2 JUND LONP2 ABCC11 HSALNG0111232 piR-44133-009 SIAH1
GH16J048408 Enhancer 1.1 Ensembl ENCODE 10.40 10.92 -160.0 18 3.6 KLF6 DPF2 JUND ATF3 DNMT3B CEBPG CEBPA NFIC CEBPB SSRP1 LONP2 ABCC11 lnc-LONP2-7-001 piR-54764-242 lnc-N4BP1-3 SIAH1

GeneHancers around ABCC11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCC11

Top Transcription factor binding sites by QIAGEN in the ABCC11 gene promoter:
  • ATF-2
  • c-Jun

Genomic Locations for ABCC11 Gene

Latest Assembly
chr16:48,164,842-48,249,973
(GRCh38/hg38)
Size:
85,132 bases
Orientation:
Minus strand

Previous Assembly
chr16:48,199,684-48,281,450
(GRCh37/hg19 by Entrez Gene)
Size:
81,767 bases
Orientation:
Minus strand

chr16:48,200,821-48,281,479
(GRCh37/hg19 by Ensembl)
Size:
80,659 bases
Orientation:
Minus strand

Genomic View for ABCC11 Gene

Genes around ABCC11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCC11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCC11 Gene
Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ABCC11 Gene

Proteins for ABCC11 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for ABCC11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96J66-MRP8_HUMAN
    Recommended name:
    ATP-binding cassette sub-family C member 11
    Protein Accession:
    Q96J66
    Secondary Accessions:
    • Q8TDJ0
    • Q96JA6
    • Q9BX80

    Protein attributes for ABCC11 Gene

    Size:
    1382 amino acids
    Molecular mass:
    154301 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • This protein has no ortholog in rodents.

    Predicted three dimensional structure from AlphaFold

    Q96J66

    Alternative splice isoforms for ABCC11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCC11 Gene

Protein Expression for ABCC11 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ABCC11 Gene

  • Glycosylation at Asn838, Asn844, and Asn992
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCC11 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for ABCC11
  • Boster Bio Antibodies for ABCC11
  • Santa Cruz Biotechnology (SCBT) Antibodies for ABCC11

No data available for DME Specific Peptides for ABCC11 Gene

Domains & Families for ABCC11 Gene

Gene Families for ABCC11 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Metabolic proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCC11 Gene

InterPro:

Suggested Antigen Peptide Sequences for ABCC11 Gene

GenScript: Design optimal peptide antigens:
  • Multidrug resistance-associated protein 8 (ABCCB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96J66

UniProtKB/Swiss-Prot:

MRP8_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
Family:
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
Genes that share domains with ABCC11: view

Function for ABCC11 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for ABCC11 Gene

UniProtKB/Swiss-Prot Function:
ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Participates in physiological processes involving bile acids, conjugated steroids and cyclic nucleotides (PubMed:12764137, PubMed:15537867). Stimulates the ATP-dependent uptake of a range of physiological lipophilic anions, including the glutathione S-conjugates leukotriene C4 and dinitrophenyl S-glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone 3-sulfate, glucuronides such as estradiol 17-beta-D-glucuronide (E(2)17betaG), the monoanionic bile acids glycocholate and taurocholate, and methotrexate (PubMed:15537867, PubMed:25896536). Enhances also the cellular extrusion of cAMP and cGMP (PubMed:12764137, PubMed:15537867). Confers resistance to anticancer drugs, such as 5-fluorouracil (5-FU) and methotrexate (PubMed:25896536, PubMed:15537867, PubMed:12764137). Probably functions to secrete earwax (PubMed:16444273, PubMed:19383836). Required for the secretion of components contributing to axillary odor formation (PubMed:19710689, PubMed:12764137, PubMed:15537867, PubMed:16444273, PubMed:19383836, PubMed:25896536).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + xenobiotic(Side 1) = ADP + phosphate + xenobiotic(Side 2).; EC=7.6.2.2; Evidence={ECO:0000269|PubMed:12764137, ECO:0000269|PubMed:15537867, ECO:0000269|PubMed:25896536};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate; Xref=Rhea:RHEA:19121, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:90779, ChEBI:CHEBI:456216; EC=7.6.2.3; Evidence={ECO:0000269|PubMed:15537867};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + leukotriene C4(in) = ADP + H(+) + leukotriene C4(out) + phosphate; Xref=Rhea:RHEA:38963, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57973, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15537867};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3beta-sulfooxy-androst-5-en-17-one(in) + ATP + H2O = 3beta-sulfooxy-androst-5-en-17-one(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:61364, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57905, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15537867, ECO:0000269|PubMed:16359813, ECO:0000269|PubMed:25896536};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + estrone 3-sulfate(in) + H2O = ADP + estrone 3-sulfate(out) + H(+) + phosphate; Xref=Rhea:RHEA:61348, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:60050, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16359813, ECO:0000269|PubMed:25896536};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + taurocholate(in) = ADP + H(+) + phosphate + taurocholate(out); Xref=Rhea:RHEA:50052, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:36257, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15537867};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + glycocholate(in) + H2O = ADP + glycocholate(out) + H(+) + phosphate; Xref=Rhea:RHEA:50056, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29746, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15537867};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol 17-O-(beta-D-glucuronate)(in) + ATP + H2O = 17beta-estradiol 17-O-(beta-D-glucuronate)(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:60128, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:82961, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15537867};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3',5'-cyclic AMP(in) + ATP + H2O = 3',5'-cyclic AMP(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:66184, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58165, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:12764137, ECO:0000269|PubMed:15537867};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3',5'-cyclic GMP(in) + ATP + H2O = 3',5'-cyclic GMP(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:66188, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57746, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:12764137, ECO:0000269|PubMed:15537867};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2,4-dinitrophenyl-S-glutathione(in) + ATP + H2O = 2,4-dinitrophenyl-S-glutathione(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:61380, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:133977, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15537867};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=13 uM for DHEAS transport {ECO:0000269|PubMed:15537867}; KM=21 uM for DHEAS transport {ECO:0000269|PubMed:16359813}; KM=62.9 uM for E(2)17betaG transport {ECO:0000269|PubMed:15537867}; KM=957 uM for methotrexate transport {ECO:0000269|PubMed:15537867}; Vmax=0.74 pmol/min/mg enzyme for cAMP transport {ECO:0000269|PubMed:15537867}; Vmax=0.59 pmol/min/mg enzyme for cGMP transport {ECO:0000269|PubMed:15537867}; Vmax=370 pmol/min/mg enzyme for DHEAS transport {ECO:0000269|PubMed:16359813}; Vmax=34.9 pmol/min/mg enzyme for DHEAS transport {ECO:0000269|PubMed:15537867}; Vmax=62 pmol/min/mg enzyme E(2)17betaG transport {ECO:0000269|PubMed:15537867}; Vmax=317 pmol/min/mg enzyme methotrexate {ECO:0000269|PubMed:15537867};

Enzyme Numbers (IUBMB) for ABCC11 Gene

Phenotypes From GWAS Catalog for ABCC11 Gene

Phenotype Gene Relation Best Score Mean Score # of Snps # of Studies SNP IDs
fasting blood glucose measurement
  • GWAS
35.7 35.69897 1 1
eosinophil count 26.0 26 1 1
serum metabolite measurement 13.7 13.69897 1 1
Hyperhidrosis
  • GWAS
9.2 9.154902 1 1
Strabismus
  • GWAS
6.4 6.39794 1 1

Gene Ontology (GO) - Molecular Function for ABCC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA
GO:0005524 enables ATP binding IEA
GO:0008514 enables organic anion transmembrane transporter activity IBA,IDA 15537867
GO:0008559 enables ABC-type xenobiotic transporter activity IEA,IDA 15537867
GO:0015216 enables purine nucleotide transmembrane transporter activity IBA,IDA 12764137
Genes that share ontologies with ABCC11: view
Genes that share phenotypes with ABCC11: view

miRNA for ABCC11 Gene

miRTarBase miRNAs that target ABCC11

miRNA products for research

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABCC11 Gene

Localization for ABCC11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCC11 Gene

Cell membrane. Multi-pass membrane protein. Vacuole membrane. Cytoplasmic vesicle membrane. Apical cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
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 ABCC11 gene
Compartment Confidence
plasma membrane 5
extracellular 4
golgi apparatus 1
lysosome 1
cytosol 1
endoplasmic reticulum 1
nucleus 1
mitochondrion 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ABCC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005773 vacuole IEA
GO:0005774 located_in vacuolar membrane IEA
GO:0005886 located_in plasma membrane TAS
GO:0005887 located_in integral component of plasma membrane IBA,IDA 16359813
GO:0016020 is_active_in membrane IBA 21873635
Genes that share ontologies with ABCC11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCC11 Gene

Pathways & Interactions for ABCC11 Gene

Genes that share pathways with ABCC11: view

Pathways by source for ABCC11 Gene

Additional Pathway Information for ABCC11 Gene

Gene Ontology (GO) - Biological Process for ABCC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015698 involved_in inorganic anion transport IEA
GO:0015711 involved_in organic anion transport IBA,IDA 15537867
GO:0015721 involved_in bile acid and bile salt transport IDA 15537867
GO:0015865 involved_in purine nucleotide transport IDA 12764137
GO:0042908 involved_in xenobiotic transport IDA 15537867
Genes that share ontologies with ABCC11: view

No data available for SIGNOR curated interactions for ABCC11 Gene

Drugs & Compounds for ABCC11 Gene

Products:

  1. Drug products for research

(11) Drugs for ABCC11 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate 21 23 24 Approved 23 Pharma Transporter, substrate Folate antagonist,inhibits DFHR, Small Molecule
Probenecid 23 24 Approved, Investigational 23 Pharma Transporter, inhibitor Uricosuric Agents, Small Molecule
Taurocholic acid 23 24 Approved, Experimental 23 Pharma Transporter, inhibitor
Folic acid 23 24 Approved, Vet_approved Nutra Transporter, substrate
Fluorouracil 22 94 Approved 23 Pharma

(2) Additional Compounds for ABCC11 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Genes that share compounds with ABCC11: view

Transcripts for ABCC11 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for ABCC11 Gene

5 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

miRNA products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ABCC11 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1: -
SP2: - -
SP3: -
SP4:
SP5:

Relevant External Links for ABCC11 Gene

GeneLoc Exon Structure for
ABCC11

Expression for ABCC11 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCC11 Gene

mRNA expression in normal human tissues for ABCC11 Gene
mRNA expression by BioGPS for ABCC11 GenemRNA expression by GTEx for ABCC11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCC11 Gene

This gene is overexpressed in Liver (x11.0), Testis (x8.2), and Breast - Mammary Tissue (x7.6).

Protein differential expression in normal tissues from HIPED for ABCC11 Gene

This gene is overexpressed in Heart (29.7), Monocytes (27.6), and Liver (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCC11 Gene



Protein tissue co-expression partners for ABCC11 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCC11

SOURCE GeneReport for Unigene cluster for ABCC11 Gene:

Hs.652267

mRNA Expression by UniProt/SwissProt for ABCC11 Gene:

Q96J66-MRP8_HUMAN
Tissue specificity: Expressed in ceruminous apocrine gland (at protein level) (PubMed:19383836, PubMed:19710689). Expressed in many tissues. Not expressed in kidney, spleen and colon. Highly expressed in breast cancer. Expressed at moderate levels in normal breast and testis and at very low levels in liver, brain and placenta (PubMed:11483364, PubMed:11591886, PubMed:19383836, PubMed:19710689). Localizes to axons of the CNS and peripheral nervous system (at protein level) (PubMed:16359813).

Evidence on tissue expression from TISSUES for ABCC11 Gene

  • Liver(4.5)
  • Lung(2.4)
  • Kidney(2.3)
  • Intestine(2.1)
  • Pancreas(2.1)

Bgee gene expression patterns for ABCC11 gene:

  • Expressed in sural nerve and 89 other tissues.

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCC11 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • ear
  • head
Thorax:
  • breast
Genes that share expression patterns with ABCC11: view

Primer products for research

Orthologs for ABCC11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCC11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ABCC11 28 29
  • 99.06 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ABCC11 28 29
  • 81.44 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ABCC11 29
  • 67 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ABCC11 29
  • 67 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ABCC11 29
  • 56 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii abcc12 29
  • 47 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Sur 29 30
  • 16 (a)
 OneToMany
Barley
(Hordeum vulgare)
 Liliopsida Hv.10235 28
Wheat
(Triticum aestivum)
 Liliopsida Ta.27443 28
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 29
  • 36 (a)
 OneToMany
Species where no ortholog for ABCC11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Worm (Caenorhabditis elegans)

Evolution for ABCC11 Gene

ENSEMBL:
Gene Tree for ABCC11 (if available)
TreeFam:
Gene Tree for ABCC11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCC11: view image
Alliance of Genome Resources:
Additional Orthologs for ABCC11

Paralogs for ABCC11 Gene

Paralogs for ABCC11 Gene

(20) SIMAP similar genes for ABCC11 Gene using alignment to 3 proteins:

  • ABCCB_HUMAN
  • F5H410_HUMAN
  • H3BRJ2_HUMAN
Genes that share paralogs with ABCC11: view

Variants for ABCC11 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Polymorphic Variants from UniProtKB/Swiss-Prot for ABCC11 Gene

MRP8_HUMAN-Q96J66
Polymorphism in ABCC11 is associated with variation in apocrine gland secretion [MIM:117800]. This determines different ear wax phenotypes, presence or absence of axillary odor, and variation in colostrum secretion. Characteristic of earwax and strength of axillary odor are most likely interconnected. Human earwax is a Mendelian trait consisting of wet and dry types. The wet earwax is brownish and sticky, whereas the dry type lacks cerumen. The wet cerumen phenotype is completely dominant. The dry type is seen frequently (80-95%) among East Asians, but uncommon (0-3%) in populations of European and African origins. Intermediate frequencies (30-50%) of the dry type are seen in populations of Southern Asia, the Pacific Islands, Central Asia and Asia Minor, as well as among the Native North American and Inuit of Asian ancestry. The allele with Arg-180 is responsible for the dry earwax phenotype and lack of axillary odor.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCC11 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs387906296 5 110

Affects: Apocrine gland secretion, variation in

48,167,586(-) TTCACGGATTGTGCGC NM_032583.4(ABCC11):c.3939_3965del (p.Asp1313_Arg1321del)
INFRAME_DELETION
1048955

Uncertain Significance: not provided

48,187,296(-) T/ANM_001370497.1(ABCC11):c.2838A>T (p.Leu946Phe)
MISSENSE
1048993

Uncertain Significance: not provided

48,216,209(-) C/TNM_001370497.1(ABCC11):c.856G>A (p.Ala286Thr)
MISSENSE
1049104

Uncertain Significance: not provided

48,214,963(-) G/TNM_001370497.1(ABCC11):c.1166C>A (p.Thr389Asn)
MISSENSE
1049993

Uncertain Significance: not provided

48,200,422(-) G/ANM_001370497.1(ABCC11):c.1936C>T (p.Arg646Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ABCC11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ABCC11 Gene

Variant ID Type Subtype PubMed ID
nsv472379 CNV novel sequence insertion 20440878
nsv827641 CNV gain 20364138

Variation tolerance for ABCC11 Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.43; 98.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCC11 Gene

Human Gene Mutation Database (HGMD)
ABCC11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCC11
Leiden Open Variation Database (LOVD)
ABCC11

SNP Genotyping and Copy Number Assays for research

Disorders for ABCC11 Gene

(6) MalaCards diseases for ABCC11 Gene - From: OMI, GTR, COP, AKS, and GCD

Disorder Aliases PubMed IDs
Apocrine Gland Secretion, Variation In 1 6 102
  • Ear Wax, Wet/Dry
  • Axillary Odor, Variation In
  • Ewwd
  • Wet Wax
  • Ww
  • Cerumen, Variation In
  • Colostrum Secretion, Variation In
  • Earwax, Wet/Dry
  • Secretion, Gland, Apocrine, Variation In
Lateral Sinus Thrombosis 64
  • Thrombosis Of Lateral Venous Sinus
  • Thrombosis Transverse Sinus
Episodic Kinesigenic Dyskinesia 1 64
  • Paroxysmal Kinesigenic Choreoathetosis
  • Paroxysmal Kinesigenic Dyskinesia
  • Dystonia 10
  • Familial Paroxysmal Kinesigenic Dyskinesia
  • EKD1
  • Pkc
  • Pkd
  • Dyt10
  • Familial Pkd
  • Paroxysmal Kinesigenic Choreathetosis
  • Familial Paroxysmal Dystonia
  • Dystonia, Familial Paroxysmal
  • Dyt-Prrt2
  • Episodic Kinesigenic Dyskinesia
  • Dystonia, Type 10
Malignant Otitis Externa 64
  • Necrotising Otitis Externa
  • Pseudomonas Aeruginosa Osteomyelitis Of The Temporal Bone
Intracranial Sinus Thrombosis 64
  • Sinus Thrombosis, Intracranial
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ABCC11

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
Cancer Target Discovery and Development
(CTD² Dashboard)
The FABRIC Cancer Portal
(FABRIC)
Genes that share disorders with ABCC11: view

No data available for UniProtKB/Swiss-Prot and GENATLAS for ABCC11 Gene

Publications for ABCC11 Gene

  1. Transport of bile acids, sulfated steroids, estradiol 17-beta-D-glucuronide, and leukotriene C4 by human multidrug resistance protein 8 (ABCC11). (PMID: 15537867) Chen ZS … Kruh GD (Molecular pharmacology 2005) 3 4 21 24
  2. MRP8, ATP-binding cassette C11 (ABCC11), is a cyclic nucleotide efflux pump and a resistance factor for fluoropyrimidines 2',3'-dideoxycytidine and 9'-(2'-phosphonylmethoxyethyl)adenine. (PMID: 12764137) Guo Y … Kruh GD (The Journal of biological chemistry 2003) 3 4 21 24
  3. Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12. (PMID: 11483364) Tammur J … Allikmets R (Gene 2001) 2 3 4 21
  4. A functional ABCC11 allele is essential in the biochemical formation of human axillary odor. (PMID: 19710689) Martin A … Natsch A (The Journal of investigative dermatology 2010) 3 4 21
  5. A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene. (PMID: 19650936) Nakano M … Niikawa N (BMC genetics 2009) 3 21 39

ExternalLinks

View latest publications for ABCC11 gene in Mastermind

Products for ABCC11 Gene

Sources for ABCC11 Gene