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ABCC3 (ATP binding cassette subfamily C member 3)

Identity

Alias_namesATP-binding cassette, sub-family C (CFTR/MRP), member 3
Alias_symbol (synonym)MRP3
cMOAT2
EST90757
MLP2
MOAT-D
Other aliasABC31
HGNC (Hugo) ABCC3
LocusID (NCBI) 8714
Atlas_Id 540
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 50634857 and ends at 50691702 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABCC3 (17q21.33) / ABCC3 (17q21.33)ABCC3 (17q21.33) / AC217773.1 ()ABCC3 (17q21.33) / BCAN (1q23.1)
ABCC3 (17q21.33) / DLGAP2 (8p23.3)ACADS (12q24.31) / ABCC3 (17q21.33)BPTF (17q24.2) / ABCC3 (17q21.33)
ERCC6L2 (9q22.32) / ABCC3 (17q21.33)LUC7L3 (17q21.33) / ABCC3 (17q21.33)MED1 (17q12) / ABCC3 (17q21.33)
YWHAZ (8q22.3) / ABCC3 (17q21.33)ABCC3 17q21.33 AC217773.1ABCC3 17q21.33 / BCAN 1q23.1
BPTF 17q24.2 / ABCC3 17q21.33LUC7L3 17q21.33 / ABCC3 17q21.33MED1 17q12 / ABCC3 17q21.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(1;17)(q23;q21) ABCC3/BCAN
t(17;17)(q12;q21) MED1/ABCC3
LUC7L3/ABCC3 (17q21)
t(17;17)(q21;q24) BPTF/ABCC3

External links

Nomenclature
HGNC (Hugo)ABCC3   54
Cards
Entrez_Gene (NCBI)ABCC3  8714  ATP binding cassette subfamily C member 3
AliasesABC31; EST90757; MLP2; MOAT-D; 
MRP3; cMOAT2
GeneCards (Weizmann)ABCC3
Ensembl hg19 (Hinxton)ENSG00000108846 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108846 [Gene_View]  ENSG00000108846 [Sequence]  chr17:50634857-50691702 [Contig_View]  ABCC3 [Vega]
ICGC DataPortalENSG00000108846
TCGA cBioPortalABCC3
AceView (NCBI)ABCC3
Genatlas (Paris)ABCC3
WikiGenes8714
SOURCE (Princeton)ABCC3
Genetics Home Reference (NIH)ABCC3
Genomic and cartography
GoldenPath hg38 (UCSC)ABCC3  -     chr17:50634857-50691702 +  17q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCC3  -     17q21.33   [Description]    (hg19-Feb_2009)
GoldenPathABCC3 - 17q21.33 [CytoView hg19]  ABCC3 - 17q21.33 [CytoView hg38]
ImmunoBaseENSG00000108846
Mapping of homologs : NCBIABCC3 [Mapview hg19]  ABCC3 [Mapview hg38]
OMIM604323   
Gene and transcription
Genbank (Entrez)AB010887 AB208954 AF009670 AF083552 AF085690
RefSeq transcript (Entrez)NM_001144070 NM_003786 NM_020037 NM_020038
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCC3
Cluster EST : UnigeneHs.463421 [ NCBI ]
CGAP (NCI)Hs.463421
Alternative Splicing GalleryENSG00000108846
Gene ExpressionABCC3 [ NCBI-GEO ]   ABCC3 [ EBI - ARRAY_EXPRESS ]   ABCC3 [ SEEK ]   ABCC3 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8714
GTEX Portal (Tissue expression)ABCC3
Human Protein AtlasENSG00000108846-ABCC3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15438   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15438  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15438
Splice isoforms : SwissVarO15438
PhosPhoSitePlusO15438
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC1_TM_dom    ABC1_TM_sf    ABC_transporter-like    ABC_transporter_CS    Multidrug-R_assoc    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)ABCC3
DMDM Disease mutations8714
Blocks (Seattle)ABCC3
SuperfamilyO15438
Human Protein Atlas [tissue]ENSG00000108846-ABCC3 [tissue]
Peptide AtlasO15438
HPRD06826
IPIIPI00006674   IPI00251066   IPI00219843   IPI00219844   IPI00797470   IPI00967093   IPI00966529   IPI01011150   IPI00966285   IPI00965466   
Protein Interaction databases
DIP (DOE-UCLA)O15438
IntAct (EBI)O15438
FunCoupENSG00000108846
BioGRIDABCC3
STRING (EMBL)ABCC3
ZODIACABCC3
Ontologies - Pathways
QuickGOO15438
Ontology : AmiGOATP binding  vacuolar membrane  plasma membrane  integral component of plasma membrane  organic anion transmembrane transporter activity  bile acid-exporting ATPase activity  bile acid and bile salt transport  canalicular bile acid transport  membrane  ATPase activity  ion transmembrane transport  ATPase activity, coupled to transmembrane movement of substances  transmembrane transport  transmembrane transport  
Ontology : EGO-EBIATP binding  vacuolar membrane  plasma membrane  integral component of plasma membrane  organic anion transmembrane transporter activity  bile acid-exporting ATPase activity  bile acid and bile salt transport  canalicular bile acid transport  membrane  ATPase activity  ion transmembrane transport  ATPase activity, coupled to transmembrane movement of substances  transmembrane transport  transmembrane transport  
Pathways : KEGGABC transporters    Bile secretion   
NDEx NetworkABCC3
Atlas of Cancer Signalling NetworkABCC3
Wikipedia pathwaysABCC3
Orthology - Evolution
OrthoDB8714
GeneTree (enSembl)ENSG00000108846
Phylogenetic Trees/Animal Genes : TreeFamABCC3
HOGENOMO15438
Homologs : HomoloGeneABCC3
Homology/Alignments : Family Browser (UCSC)ABCC3
Gene fusions - Rearrangements
Fusion : MitelmanABCC3/BCAN [17q21.33/1q23.1]  
Fusion : MitelmanBPTF/ABCC3 [17q24.2/17q21.33]  [t(17;17)(q21;q24)]  
Fusion : MitelmanLUC7L3/ABCC3 [17q21.33/17q21.33]  [t(17;17)(q21;q21)]  
Fusion : MitelmanMED1/ABCC3 [17q12/17q21.33]  [t(17;17)(q12;q21)]  
Fusion PortalABCC3 17q21.33 AC217773.1 BRCA
Fusion PortalABCC3 17q21.33 BCAN 1q23.1 KIRC
Fusion PortalBPTF 17q24.2 ABCC3 17q21.33 BRCA
Fusion PortalLUC7L3 17q21.33 ABCC3 17q21.33 BRCA
Fusion PortalMED1 17q12 ABCC3 17q21.33 BRCA
Fusion : QuiverABCC3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCC3
dbVarABCC3
ClinVarABCC3
1000_GenomesABCC3 
Exome Variant ServerABCC3
ExAC (Exome Aggregation Consortium)ENSG00000108846
GNOMAD BrowserENSG00000108846
Varsome BrowserABCC3
Genetic variants : HAPMAP8714
Genomic Variants (DGV)ABCC3 [DGVbeta]
DECIPHERABCC3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCC3 
Mutations
ICGC Data PortalABCC3 
TCGA Data PortalABCC3 
Broad Tumor PortalABCC3
OASIS PortalABCC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCC3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DABCC3
Mutations and Diseases : HGMDABCC3
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 ABCC3
DgiDB (Drug Gene Interaction Database)ABCC3
DoCM (Curated mutations)ABCC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCC3 (select a term)
intoGenABCC3
Cancer3DABCC3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604323   
Orphanet
DisGeNETABCC3
MedgenABCC3
Genetic Testing Registry ABCC3
NextProtO15438 [Medical]
TSGene8714
GENETestsABCC3
Target ValidationABCC3
Huge Navigator ABCC3 [HugePedia]
snp3D : Map Gene to Disease8714
BioCentury BCIQABCC3
ClinGenABCC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8714
Chemical/Pharm GKB GenePA376
Clinical trialABCC3
Miscellaneous
canSAR (ICR)ABCC3 (select the gene name)
DataMed IndexABCC3
Probes
Litterature
PubMed101 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCC3
EVEXABCC3
GoPubMedABCC3
iHOPABCC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:30:40 CET 2019
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