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ABCC11 (ATP-binding cassette, sub-family C (CFTR/MRP), member 11)

Written2013-12Akimitsu Yamada, Kazuaki Takabe, Krista P Terracina, Takashi Ishikawa, Itaru Endo
Department of Breast, Oncological Surgery, Yokohama City University School of Medicine, Kanagawa, Japan (AY, IE); Department of Surgery, Virginia Commonwealth University, Richmond, Virginia, USA (AY, KT, KPT); Department of Breast, Thyroid Surgery, Yokohama City University Medical Center, Yokohama, Kanagawa, Japan (TI)

(Note : for Links provided by Atlas : click)

Identity

Alias_namesATP-binding cassette
Alias_symbol (synonym)MRP8
Other aliasEWWD
WW
HGNC (Hugo) ABCC11
LocusID (NCBI) 85320
Atlas_Id 538
Location 16q12.1  [Link to chromosome band 16q12]
Location_base_pair Starts at 48200822 and ends at 48269088 bp from pter ( according to hg19-Feb_2009)  [Mapping ABCC11.png]
Fusion genes
(updated 2016)
ANO1 (11q13.3) / ABCC11 (16q12.1)DDX19A (16q22.1) / ABCC11 (16q12.1)SKAP1 (17q21.32) / ABCC11 (16q12.1)

DNA/RNA

Note In 2001, three research groups independently cloned two novel ATP-binding cassette transporters named ABCC11 and ABCC12 from the cDNA library of human adult liver (Bera et al., 2001; Tammur et al., 2001; Yabuuchi et al., 2001). These two genes have been found to be located at human chromosome 16q12.1. Phylogenetic analysis determined that ABCC11 and ABCC12 are derived by duplication, and are closely related to the ABCC5 gene (Tammur et al., 2001). ABCC11 has overall 42% identity and 51% similarity with the MRP5 sequence and the predicted amino acid sequences of gene products show high similarity to those of ABCC5 (Bera et al., 2001). Thus these two genes were classified into the multidrug resistant-associated protein (MRP) family.
Description The ABCC11 gene is encoded by a 68 kb gene consisting of 30 exons (Yabuuchi et al., 2001). According to the August 2013, NCBI database, there are three ABCC11 variants. Variant 1 consists of 4576 bp (NM_032583.3) while variant 2 consists of 4862 bp (NM_033151.3). Both variant 1 and 2 genes encode an ABCC11 protein (isoform a) consisting of 1382 amino acids. Variant 3 (isoform b) consists of 4462 bp (NM_145186.2) and encodes a protein consisting of 1344 amino acids. This variant 3 lacks an alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
Transcription Transcript analyses suggest that human ABCC11 mRNA is ubiquitously expressed in human adult and fetal tissues (Tammur et al., 2001; Yabuuchi et al., 2001). ABCC11 mRNA has been detected in several tissues including breast, testis, liver, placenta, and brain (Bera et al., 2001; Tammur et al., 2001; Yabuuchi et al., 2001). Transcripts of ABCC11 genes have been observed in cell lines of carcinoma and adenocarcinoma originating from breast, lung, colon and prostate (Yabuuchi et al., 2001).

Protein

Note ABCC11, a plasma membrane ATP-binding cassette transporter, has been implicated in the drug resistance of breast cancer due to its ability to confer resistance to fluoropyrimidines (5-FU), and to efflux methotrexate, and has been found to be expressed in breast cancer tumors. One of the single nucleotide polymorphisms (SNPs) of this gene, 538G>A, determines wet vs. dry earwax type and it also likely has a key role in the function of ceruminous apocrine glands.
 
  Schematic illustration of ABCC11 protein structure. ABCC11 has a total of 12 transmembrane (TM) regions and two intracellular ATP-binding cassettes.
Description The calculated molecular weight of the protein encoded by the ORF is about 150 kDa. The N-linked glycosylated form of ABCC11 is 180 kDa (Toyoda et al., 2009).
Structure: ABCC11 is a full transporter and has two conserved nucleotide binding domains and 12 putative transmembrane domains (Kruh et al., 2007).
Expression ABCC11 wild type protein with Gly180 is expressed in the cerumen gland, which is one of the apocrine glands (Toyoda et al., 2009). ABCC11 has also been identified as an axonal protein of the central nervous system and peripheral nervous system (Bortfeld et al., 2006).
Localisation ABCC11 wild type with Gly180 is an N-linked glycosylated protein, which is localized within intracellular granules and large vacuoles as well as at the luminal membrane of secretory cells in the cerumen apocrine gland. As opposed to the wild type, the SNP variant Arg180 lacks N-linked glycosylation and readily undergoes proteosomal degradation, most probably via ubiquitination. As a consequence, no granular or vacuolar localization is detected in the cerumen apocrine glands of people homozygous for the SNP variant (Toyoda et al., 2009).
When ABCC11 wild type protein was transfected exogenously into Madin-Darby canine kidney cells stain II (MDCK II) cells, the protein was found to be preferentially sorted to the apical membrane of these polarized cells, a finding with a known association to axonal localization within the neuron (Bortfeld et al., 2006).
Function ABCC11 has been identified as an efflux pump for variety of lipophilic anions including the cyclic nucleotides cAMP and cGMP, glutathione conjugates such as leukotriene C4 (LTC4) and S-(2,4-dinitrophenyl)-glutathione (DNP-SG), steroid sulfates such as estrone 3-sulfate (E13S) and dehydroepiandrosterone 3-sulfate (DHEAS), glucuronides such as estradiol 17-β-D-glucuronide (E217βG), the monoanionic bile acids glycocholate and taurocholate, as well as folic acid and its analog methotrexate (MTX) (Guo et al., 2003; Chen et al., 2005; Bortfeld et al., 2006).
ABCC11 is directly involved in 5-FU resistance by the efflux transport of the active metabolite 5-fluoro-2'-deoxyuridine 5'-monophosphate (FdUMP) (Oguri et al., 2007).
ABCC11 polymorphisms have strong associations with earwax type (Yoshiura et al., 2006), axillary osmidrosis (Yabuuchi et al., 2001; Nakano et al., 2009; Toyoda et al., 2009; Inoue et al., 2010; Martin et al., 2010), and apocrine colostrum secretion from mammary gland (Miura et al., 2007).
Human earwax type is determined by a single nucleotide polymorphism (SNP), 538G>A (re17822931; Gly180Alg), in ABCC11 (Yoshiura et al., 2006; Toyoda et al., 2009). The G/G and G/A genotypes correspond to the wet type of earwax, whereas A/A corresponds to the dry type (Toyoda et al., 2009). Frequencies of this allele are known to vary dramatically depending on ethnicity. For example, in Mongoloid populations in Asia, the frequency of the 538A allele is predominantly high, whereas the frequency of this allele is low among Caucasians and Africans. Consequently, earwax type also varies between populations (Yoshiura et al., 2006).
In addition to its association with earwax type, the ABCC11 wild type (G/G and G/A) allele is also intimately associated with axillary osmidrosis, and several studies have already concluded that the genotype at ABCC11 538G>A would be a useful biomarker for the diagnosis of axillary osmidrosis (Yabuuchi et al., 2001; Nakano et al., 2009; Toyoda et al., 2009; Inoue et al., 2010; Martin et al., 2010). Axillary osmidrosis patients (538G/G homozygote or G/A heterozygote) have significantly more numerous and larger-sized axillary apocrine glands compared to those with A/A homozygote.
Lastly, there is a strong association between human earwax-type according to 538G>A and apocrine colostrum secretion from the mammary gland. In a study in 225 Japanese women, the frequency of women without colostrum among dry-type women was significantly higher than that among wet-type women and the measurable colostrum volume in dry type women was significantly smaller than that found in wet-type women (Miura et al., 2007).
Homology No gene orthologous to human ABCC11 has been found in mammals except for primates (Shimizu et al., 2003).

Mutations

Note More than 10 non-synonymous single-nucleotide polymorphisms (SNPs) have been reported in the ABCC11 gene, including R19H, G180R, A317E, T546M, R630W, V648I, V687I, K735R, M970V, and H1344R. There is also a rare deletion mutation, Δ27 (Toyoda et al., 2008; Toyoda et al., 2009).
Among those SNPs, one SNP (rs17822931; 538G>A, Gly180Arg) located on exon 4 is thought to be a clinically important polymorphism described as above. Further, the wild type allele of the ABCC11 gene (G/G or G/A) is associated with breast cancer risk in the Japanese population (Ota et al., 2010). However, this has not been found to be the case in women of European or Caucasian descent (Beesley et al., 2011; Lang et al., 2011). Thus it remains controversial whether the 518G allele contributes to a risk factor of breast cancer or not.
A deletion mutation, Δ27, has also been linked to the formation of dry-type earwax (Ishikawa et al., 2012).

Implicated in

Note
  
Entity Breast cancer
Note Several studies have reported that ABCC11 mRNA is highly expressed in breast tumors and breast cancer cell lines (Bera et al., 2001; Yabuuchi et al., 2001; Bièche et al., 2004; Park et al., 2006, Szakács et al., 2004). ABCC11 expression is regulated directly or indirectly by estrogen receptor α, and the prolonged exposure of breast cancer cells to tamoxifen has been associated with up-regulation of ABCC11 (Honorat et al., 2008).
In a study by Park et al., the mRNA of ABCC11 was shown to be increased in the breast tumors of patients with residual disease compared to those who have achieved a complete response from neoadjuvant chemotherapy. However, ABCC11, in the analysis, was not found to be the ABCC transporter protein most predictive of failure of neoadjuvant chemotherapy (Park et al., 2006).
A tissue microarray analysis of 281 breast cancer samples revealed that high expression of ABCC11 in breast cancer is associated with aggressive subtypes such as HER2 type or triple negative type, and is associated with low disease free survival (Yamada et al., 2013). The mechanism underlying this association with breast cancer patients' survival remains unknown.
  
  
Entity Leukemia
Note Some of the histone deacetylase inhibitors such as SAHA are known to induce the expression of ABC transporters including the ABCC11 gene to make acute myeloid leukemia (AML) cells resistant to a broad-spectrum of drugs (Hauswald et al., 2009).
The efflux of the nucleoside analogue cytosine arabinoside (AraC) metabolite by ABCC11 is one of the mechanisms contributing to resistance of AML. The expression of ABCC11 WT is an important factor affecting AML patient survival (Guo et al., 2009).
  
  
Entity Paroxysmal kinesigenic choreoathetosis (PKC) and infantile convulsions with paroxysmal choreoathetosis (ICCA).
Note ABCC11 and ABCC12 have been mapped to a region harboring genes for paroxysmal kinesigenic choreoathetosis (PKC) (Tomita et al., 1999), and infantile convulsions with paroxysmal choreoathetosis (ICCA) (Lee et al., 1998). The two genes were thought to be represent positional candidates for this disorder; however, it has since been reported that ABCC11 has been ruled out as the cause of PKC (Du et al., 2008).
  

Breakpoints

Note ABCC11 is in a relatively early stage of investigation. The SNP (538G>A) in the ABCC11 gene determines both ear wax phenotype and axillary osmidrosis and plays a key role in the function of apocrine glands. Though ABCC11 transports a variety of organic anions, the endogenous natural substrates for this transporter have not yet been identified that might explain the association between ABCC11 expression in breast cancer and poor prognosis.

Bibliography

No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women.
Beesley J, Johnatty SE, Chen X, Spurdle AB, Peterlongo P, Barile M, Pensotti V, Manoukian S, Radice P; Australian Ovarian Cancer Study Group; Kathleen Cuningham Consortium for Research in Familial Breast Cancer, Chenevix-Trench G.
Breast Cancer Res Treat. 2011 Feb;126(1):235-9. doi: 10.1007/s10549-010-1292-2. Epub 2010 Dec 17.
PMID 21165769
 
MRP8, a new member of ABC transporter superfamily, identified by EST database mining and gene prediction program, is highly expressed in breast cancer.
Bera TK, Lee S, Salvatore G, Lee B, Pastan I.
Mol Med. 2001 Aug;7(8):509-16.
PMID 11591886
 
Relationship between intratumoral expression of genes coding for xenobiotic-metabolizing enzymes and benefit from adjuvant tamoxifen in estrogen receptor alpha-positive postmenopausal breast carcinoma.
Bieche I, Girault I, Urbain E, Tozlu S, Lidereau R.
Breast Cancer Res. 2004;6(3):R252-63. Epub 2004 Mar 26.
PMID 15084249
 
Human multidrug resistance protein 8 (MRP8/ABCC11), an apical efflux pump for steroid sulfates, is an axonal protein of the CNS and peripheral nervous system.
Bortfeld M, Rius M, Konig J, Herold-Mende C, Nies AT, Keppler D.
Neuroscience. 2006;137(4):1247-57. Epub 2005 Dec 15.
PMID 16359813
 
Transport of bile acids, sulfated steroids, estradiol 17-beta-D-glucuronide, and leukotriene C4 by human multidrug resistance protein 8 (ABCC11).
Chen ZS, Guo Y, Belinsky MG, Kotova E, Kruh GD.
Mol Pharmacol. 2005 Feb;67(2):545-57. Epub 2004 Nov 10.
PMID 15537867
 
Localization and mutation detection for paroxysmal kinesigenic choreoathetosis.
Du T, Feng B, Wang X, Mao W, Zhu X, Li L, Sun B, Niu N, Liu Y, Wang Y, Chen B, Cai X, Liu Y.
J Mol Neurosci. 2008 Feb;34(2):101-7. Epub 2007 Oct 19.
PMID 17952630
 
Expression of ABCC-type nucleotide exporters in blasts of adult acute myeloid leukemia: relation to long-term survival.
Guo Y, Kock K, Ritter CA, Chen ZS, Grube M, Jedlitschky G, Illmer T, Ayres M, Beck JF, Siegmund W, Ehninger G, Gandhi V, Kroemer HK, Kruh GD, Schaich M.
Clin Cancer Res. 2009 Mar 1;15(5):1762-9. doi: 10.1158/1078-0432.CCR-08-0442. Epub 2009 Feb 24.
PMID 19240178
 
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.
Guo Y, Kotova E, Chen ZS, Lee K, Hopper-Borge E, Belinsky MG, Kruh GD.
J Biol Chem. 2003 Aug 8;278(32):29509-14. Epub 2003 May 22.
PMID 12764137
 
Histone deacetylase inhibitors induce a very broad, pleiotropic anticancer drug resistance phenotype in acute myeloid leukemia cells by modulation of multiple ABC transporter genes.
Hauswald S, Duque-Afonso J, Wagner MM, Schertl FM, Lubbert M, Peschel C, Keller U, Licht T.
Clin Cancer Res. 2009 Jun 1;15(11):3705-15. doi: 10.1158/1078-0432.CCR-08-2048. Epub 2009 May 19.
PMID 19458058
 
ABCC11 expression is regulated by estrogen in MCF7 cells, correlated with estrogen receptor alpha expression in postmenopausal breast tumors and overexpressed in tamoxifen-resistant breast cancer cells.
Honorat M, Mesnier A, Vendrell J, Guitton J, Bieche I, Lidereau R, Kruh GD, Dumontet C, Cohen P, Payen L.
Endocr Relat Cancer. 2008 Mar;15(1):125-38. doi: 10.1677/ERC-07-0189.
PMID 18310281
 
Correlation of axillary osmidrosis to a SNP in the ABCC11 gene determined by the Smart Amplification Process (SmartAmp) method.
Inoue Y, Mori T, Toyoda Y, Sakurai A, Ishikawa T, Mitani Y, Hayashizaki Y, Yoshimura Y, Kurahashi H, Sakai Y.
J Plast Reconstr Aesthet Surg. 2010 Aug;63(8):1369-74. doi: 10.1016/j.bjps.2009.06.029. Epub 2009 Jul 21.
PMID 19625231
 
Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.
Ishikawa T, Toyoda Y, Yoshiura K, Niikawa N.
Front Genet. 2013 Jan 2;3:306. doi: 10.3389/fgene.2012.00306. eCollection 2012.
PMID 23316210
 
ABCC10, ABCC11, and ABCC12.
Kruh GD, Guo Y, Hopper-Borge E, Belinsky MG, Chen ZS.
Pflugers Arch. 2007 Feb;453(5):675-84. Epub 2006 Jul 26. (REVIEW)
PMID 16868766
 
The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans.
Lang T, Justenhoven C, Winter S, Baisch C, Hamann U, Harth V, Ko YD, Rabstein S, Spickenheuer A, Pesch B, Bruning T, Schwab M, Brauch H.
Breast Cancer Res Treat. 2011 Oct;129(3):993-9. doi: 10.1007/s10549-011-1613-0. Epub 2011 Jun 8.
PMID 21655989
 
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family.
Lee WL, Tay A, Ong HT, Goh LM, Monaco AP, Szepetowski P.
Hum Genet. 1998 Nov;103(5):608-12.
PMID 9860304
 
A functional ABCC11 allele is essential in the biochemical formation of human axillary odor.
Martin A, Saathoff M, Kuhn F, Max H, Terstegen L, Natsch A.
J Invest Dermatol. 2010 Feb;130(2):529-40. doi: 10.1038/jid.2009.254. Epub 2009 Aug 27.
PMID 19710689
 
A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.
Miura K, Yoshiura K, Miura S, Shimada T, Yamasaki K, Yoshida A, Nakayama D, Shibata Y, Niikawa N, Masuzaki H.
Hum Genet. 2007 Jun;121(5):631-3. Epub 2007 Mar 30.
PMID 17394018
 
A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene.
Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N.
BMC Genet. 2009 Aug 4;10:42. doi: 10.1186/1471-2156-10-42.
PMID 19650936
 
MRP8/ABCC11 directly confers resistance to 5-fluorouracil.
Oguri T, Bessho Y, Achiwa H, Ozasa H, Maeno K, Maeda H, Sato S, Ueda R.
Mol Cancer Ther. 2007 Jan;6(1):122-7.
PMID 17237272
 
Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC11.
Ota I, Sakurai A, Toyoda Y, Morita S, Sasaki T, Chishima T, Yamakado M, Kawai Y, Ishidao T, Lezhava A, Yoshiura K, Togo S, Hayashizaki Y, Ishikawa T, Ishikawa T, Endo I, Shimada H.
Anticancer Res. 2010 Dec;30(12):5189-94.
PMID 21187511
 
Gene expression profiling of ATP-binding cassette (ABC) transporters as a predictor of the pathologic response to neoadjuvant chemotherapy in breast cancer patients.
Park S, Shimizu C, Shimoyama T, Takeda M, Ando M, Kohno T, Katsumata N, Kang YK, Nishio K, Fujiwara Y.
Breast Cancer Res Treat. 2006 Sep;99(1):9-17. Epub 2006 Jun 5.
PMID 16752223
 
Characterization of the mouse Abcc12 gene and its transcript encoding an ATP-binding cassette transporter, an orthologue of human ABCC12.
Shimizu H, Taniguchi H, Hippo Y, Hayashizaki Y, Aburatani H, Ishikawa T.
Gene. 2003 May 22;310:17-28.
PMID 12801629
 
Predicting drug sensitivity and resistance: profiling ABC transporter genes in cancer cells.
Szakacs G, Annereau JP, Lababidi S, Shankavaram U, Arciello A, Bussey KJ, Reinhold W, Guo Y, Kruh GD, Reimers M, Weinstein JN, Gottesman MM.
Cancer Cell. 2004 Aug;6(2):129-37.
PMID 15324696
 
Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.
Tammur J, Prades C, Arnould I, Rzhetsky A, Hutchinson A, Adachi M, Schuetz JD, Swoboda KJ, Ptacek LJ, Rosier M, Dean M, Allikmets R.
Gene. 2001 Jul 25;273(1):89-96.
PMID 11483364
 
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
Tomita Ha, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, Masui A, Konishi T, Matsuishi T, Aihara M, Shimizu K, Hashimoto K, Mineta M, Matsushima M, Tsujita T, Saito M, Tanaka H, Tsuji S, Takagi T, Nakamura Y, Nanko S, Kato N, Nakane Y, Niikawa N.
Am J Hum Genet. 1999 Dec;65(6):1688-97.
PMID 10577923
 
MRP class of human ATP binding cassette (ABC) transporters: historical background and new research directions.
Toyoda Y, Hagiya Y, Adachi T, Hoshijima K, Kuo MT, Ishikawa T.
Xenobiotica. 2008 Jul;38(7-8):833-62. doi: 10.1080/00498250701883514 . (REVIEW)
PMID 18668432
 
Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?
Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura K, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T.
FASEB J. 2009 Jun;23(6):2001-13. doi: 10.1096/fj.09-129098. Epub 2009 Apr 21.
PMID 19383836
 
Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12.
Yabuuchi H, Shimizu H, Takayanagi S, Ishikawa T.
Biochem Biophys Res Commun. 2001 Nov 9;288(4):933-9.
PMID 11688999
 
High expression of ATP-binding cassette transporter ABCC11 in breast tumors is associated with aggressive subtypes and low disease-free survival.
Yamada A, Ishikawa T, Ota I, Kimura M, Shimizu D, Tanabe M, Chishima T, Sasaki T, Ichikawa Y, Morita S, Yoshiura K, Takabe K, Endo I.
Breast Cancer Res Treat. 2013 Feb;137(3):773-82. doi: 10.1007/s10549-012-2398-5. Epub 2013 Jan 4.
PMID 23288347
 
A SNP in the ABCC11 gene is the determinant of human earwax type.
Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N.
Nat Genet. 2006 Mar;38(3):324-30. Epub 2006 Jan 29.
PMID 16444273
 

Citation

This paper should be referenced as such :
Yamada, A ; Takabe, K ; Terracina, KP ; Ishikawa, T ; Endo, I
ABCC11 (ATP-binding cassette, sub-family C (CFTR/MRP), member 11)
Atlas Genet Cytogenet Oncol Haematol. 2014;18(8):540-544.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ABCC11ID538ch16q12.html


External links

Nomenclature
HGNC (Hugo)ABCC11   14639
Cards
AtlasABCC11ID538ch16q12
Entrez_Gene (NCBI)ABCC11  85320  ATP binding cassette subfamily C member 11
AliasesEWWD; MRP8; WW
GeneCards (Weizmann)ABCC11
Ensembl hg19 (Hinxton)ENSG00000121270 [Gene_View]  chr16:48200822-48269088 [Contig_View]  ABCC11 [Vega]
Ensembl hg38 (Hinxton)ENSG00000121270 [Gene_View]  chr16:48200822-48269088 [Contig_View]  ABCC11 [Vega]
ICGC DataPortalENSG00000121270
TCGA cBioPortalABCC11
AceView (NCBI)ABCC11
Genatlas (Paris)ABCC11
WikiGenes85320
SOURCE (Princeton)ABCC11
Genetics Home Reference (NIH)ABCC11
Genomic and cartography
GoldenPath hg19 (UCSC)ABCC11  -     chr16:48200822-48269088 -  16q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABCC11  -     16q12   [Description]    (hg38-Dec_2013)
EnsemblABCC11 - 16q12 [CytoView hg19]  ABCC11 - 16q12 [CytoView hg38]
Mapping of homologs : NCBIABCC11 [Mapview hg19]  ABCC11 [Mapview hg38]
OMIM117800   607040   
Gene and transcription
Genbank (Entrez)AF352582 AF367202 AF411579 AK301547 AL117406
RefSeq transcript (Entrez)NM_032583 NM_033151 NM_145186
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_011522 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)ABCC11
Cluster EST : UnigeneHs.652267 [ NCBI ]
CGAP (NCI)Hs.652267
Alternative Splicing GalleryENSG00000121270
Gene ExpressionABCC11 [ NCBI-GEO ]   ABCC11 [ EBI - ARRAY_EXPRESS ]   ABCC11 [ SEEK ]   ABCC11 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCC11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)85320
GTEX Portal (Tissue expression)ABCC11
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96J66   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96J66  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96J66
Splice isoforms : SwissVarQ96J66
PhosPhoSitePlusQ96J66
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC1_TM_dom    ABC_transporter-like    ABC_transporter_CS    ABCC11    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00664    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCC11
DMDM Disease mutations85320
Blocks (Seattle)ABCC11
SuperfamilyQ96J66
Human Protein AtlasENSG00000121270
Peptide AtlasQ96J66
HPRD06127
IPIIPI00186714   IPI00152538   IPI01010583   
Protein Interaction databases
DIP (DOE-UCLA)Q96J66
IntAct (EBI)Q96J66
FunCoupENSG00000121270
BioGRIDABCC11
STRING (EMBL)ABCC11
ZODIACABCC11
Ontologies - Pathways
QuickGOQ96J66
Ontology : AmiGOATP binding  plasma membrane  integral component of plasma membrane  metabolic process  organic anion transmembrane transporter activity  purine nucleotide transmembrane transporter activity  organic anion transport  purine nucleotide transport  anion transmembrane-transporting ATPase activity  transmembrane transport  extracellular exosome  anion transmembrane transport  
Ontology : EGO-EBIATP binding  plasma membrane  integral component of plasma membrane  metabolic process  organic anion transmembrane transporter activity  purine nucleotide transmembrane transporter activity  organic anion transport  purine nucleotide transport  anion transmembrane-transporting ATPase activity  transmembrane transport  extracellular exosome  anion transmembrane transport  
Pathways : KEGGABC transporters   
REACTOMEQ96J66 [protein]
REACTOME Pathways382556 [pathway]   
NDEx NetworkABCC11
Atlas of Cancer Signalling NetworkABCC11
Wikipedia pathwaysABCC11
Orthology - Evolution
OrthoDB85320
GeneTree (enSembl)ENSG00000121270
Phylogenetic Trees/Animal Genes : TreeFamABCC11
HOVERGENQ96J66
HOGENOMQ96J66
Homologs : HomoloGeneABCC11
Homology/Alignments : Family Browser (UCSC)ABCC11
Gene fusions - Rearrangements
Fusion : MitelmanANO1/ABCC11 [11q13.3/16q12.1]  [t(11;16)(q13;q12)]  
Fusion : MitelmanDDX19A/ABCC11 [16q22.1/16q12.1]  [t(16;16)(q12;q22)]  
Fusion : MitelmanSKAP1/ABCC11 [17q21.32/16q12.1]  [t(16;17)(q12;q21)]  
Fusion: TCGAANO1 11q13.3 ABCC11 16q12.1 BRCA
Fusion: TCGADDX19A 16q22.1 ABCC11 16q12.1 LUAD
Fusion: TCGASKAP1 17q21.32 ABCC11 16q12.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCC11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCC11
dbVarABCC11
ClinVarABCC11
1000_GenomesABCC11 
Exome Variant ServerABCC11
ExAC (Exome Aggregation Consortium)ABCC11 (select the gene name)
Genetic variants : HAPMAP85320
Genomic Variants (DGV)ABCC11 [DGVbeta]
DECIPHER (Syndromes)16:48200822-48269088  ENSG00000121270
CONAN: Copy Number AnalysisABCC11 
Mutations
ICGC Data PortalABCC11 
TCGA Data PortalABCC11 
Broad Tumor PortalABCC11
OASIS PortalABCC11 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCC11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCC11
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ABCC11
DgiDB (Drug Gene Interaction Database)ABCC11
DoCM (Curated mutations)ABCC11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCC11 (select a term)
intoGenABCC11
NCG5 (London)ABCC11
Cancer3DABCC11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM117800    607040   
Orphanet
MedgenABCC11
Genetic Testing Registry ABCC11
NextProtQ96J66 [Medical]
TSGene85320
GENETestsABCC11
Huge Navigator ABCC11 [HugePedia]
snp3D : Map Gene to Disease85320
BioCentury BCIQABCC11
ClinGenABCC11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD85320
Chemical/Pharm GKB GenePA24393
Clinical trialABCC11
Miscellaneous
canSAR (ICR)ABCC11 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCC11
EVEXABCC11
GoPubMedABCC11
iHOPABCC11
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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