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ABCC5 (ATP binding cassette subfamily C member 5)

Identity

Alias_namesATP-binding cassette
Alias_symbol (synonym)MRP5
SMRP
EST277145
MOAT-C
Other aliasABC33
MOATC
pABC11
HGNC (Hugo) ABCC5
LocusID (NCBI) 10057
Atlas_Id 542
Location 3q27.1  [Link to chromosome band 3q27]
Location_base_pair Starts at 183983752 and ends at 184017960 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABCC5 (3q27.1) / ATN1 (12p13.31)ABCC5 (3q27.1) / PSMA7 (20q13.33)ABCC5 (3q27.1) / TGFBI (5q31.1)
ABCC5 (3q27.1) / TSPAN14 (10q23.1)EHHADH (3q27.2) / ABCC5 (3q27.1)EIF4G1 (3q27.1) / ABCC5 (3q27.1)
NAALADL2 (3q26.31) / ABCC5 (3q27.1)PARL (3q27.1) / ABCC5 (3q27.1)EHHADH 3q27.2 / ABCC5 3q27.1
NAALADL2 3q26.31 / ABCC5 3q27.1PARL 3q27.1 / ABCC5 3q27.1

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

 


External links

Nomenclature
HGNC (Hugo)ABCC5   56
Cards
Entrez_Gene (NCBI)ABCC5  10057  ATP binding cassette subfamily C member 5
AliasesABC33; EST277145; MOAT-C; MOATC; 
MRP5; SMRP; pABC11
GeneCards (Weizmann)ABCC5
Ensembl hg19 (Hinxton)ENSG00000114770 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114770 [Gene_View]  chr3:183983752-184017960 [Contig_View]  ABCC5 [Vega]
ICGC DataPortalENSG00000114770
TCGA cBioPortalABCC5
AceView (NCBI)ABCC5
Genatlas (Paris)ABCC5
WikiGenes10057
SOURCE (Princeton)ABCC5
Genetics Home Reference (NIH)ABCC5
Genomic and cartography
GoldenPath hg38 (UCSC)ABCC5  -     chr3:183983752-184017960 -  3q27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCC5  -     3q27.1   [Description]    (hg19-Feb_2009)
EnsemblABCC5 - 3q27.1 [CytoView hg19]  ABCC5 - 3q27.1 [CytoView hg38]
Mapping of homologs : NCBIABCC5 [Mapview hg19]  ABCC5 [Mapview hg38]
OMIM605251   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001023587 NM_001320032 NM_005688
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCC5
Cluster EST : UnigeneHs.743953 [ NCBI ]
CGAP (NCI)Hs.743953
Alternative Splicing GalleryENSG00000114770
Gene ExpressionABCC5 [ NCBI-GEO ]   ABCC5 [ EBI - ARRAY_EXPRESS ]   ABCC5 [ SEEK ]   ABCC5 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCC5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10057
GTEX Portal (Tissue expression)ABCC5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15440   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15440  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15440
Splice isoforms : SwissVarO15440
PhosPhoSitePlusO15440
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    ABCC5    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)ABCC5
DMDM Disease mutations10057
Blocks (Seattle)ABCC5
SuperfamilyO15440
Human Protein AtlasENSG00000114770
Peptide AtlasO15440
HPRD06898
IPIIPI00385383   IPI00555898   IPI00917215   IPI00796678   IPI00736842   IPI00926986   IPI00604623   IPI00926156   IPI00925708   IPI00925031   IPI00925224   
Protein Interaction databases
DIP (DOE-UCLA)O15440
IntAct (EBI)O15440
FunCoupENSG00000114770
BioGRIDABCC5
STRING (EMBL)ABCC5
ZODIACABCC5
Ontologies - Pathways
QuickGOO15440
Ontology : AmiGOATP binding  plasma membrane  integral component of plasma membrane  transport  organic anion transmembrane transporter activity  organic anion transport  membrane  hyaluronan biosynthetic process  ATPase activity, coupled to transmembrane movement of substances  ATPase-coupled anion transmembrane transporter activity  transmembrane transport  transmembrane transport  ATP hydrolysis coupled anion transmembrane transport  
Ontology : EGO-EBIATP binding  plasma membrane  integral component of plasma membrane  transport  organic anion transmembrane transporter activity  organic anion transport  membrane  hyaluronan biosynthetic process  ATPase activity, coupled to transmembrane movement of substances  ATPase-coupled anion transmembrane transporter activity  transmembrane transport  transmembrane transport  ATP hydrolysis coupled anion transmembrane transport  
Pathways : KEGGABC transporters   
NDEx NetworkABCC5
Atlas of Cancer Signalling NetworkABCC5
Wikipedia pathwaysABCC5
Orthology - Evolution
OrthoDB10057
GeneTree (enSembl)ENSG00000114770
Phylogenetic Trees/Animal Genes : TreeFamABCC5
HOVERGENO15440
HOGENOMO15440
Homologs : HomoloGeneABCC5
Homology/Alignments : Family Browser (UCSC)ABCC5
Gene fusions - Rearrangements
Fusion : MitelmanEHHADH/ABCC5 [3q27.2/3q27.1]  [t(3;3)(q27;q27)]  
Fusion : MitelmanEIF4G1/ABCC5 [3q27.1/3q27.1]  [t(3;3)(q27;q27)]  
Fusion : MitelmanNAALADL2/ABCC5 [3q26.31/3q27.1]  [t(3;3)(q26;q27)]  
Fusion : MitelmanPARL/ABCC5 [3q27.1/3q27.1]  [t(3;3)(q27;q27)]  
Fusion: TCGAEHHADH 3q27.2 ABCC5 3q27.1 BRCA
Fusion: TCGANAALADL2 3q26.31 ABCC5 3q27.1 LUSC
Fusion: TCGAPARL 3q27.1 ABCC5 3q27.1 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCC5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCC5
dbVarABCC5
ClinVarABCC5
1000_GenomesABCC5 
Exome Variant ServerABCC5
ExAC (Exome Aggregation Consortium)ABCC5 (select the gene name)
Genetic variants : HAPMAP10057
Genomic Variants (DGV)ABCC5 [DGVbeta]
DECIPHERABCC5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCC5 
Mutations
ICGC Data PortalABCC5 
TCGA Data PortalABCC5 
Broad Tumor PortalABCC5
OASIS PortalABCC5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCC5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCC5
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 ABCC5
DgiDB (Drug Gene Interaction Database)ABCC5
DoCM (Curated mutations)ABCC5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCC5 (select a term)
intoGenABCC5
Cancer3DABCC5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605251   
Orphanet
MedgenABCC5
Genetic Testing Registry ABCC5
NextProtO15440 [Medical]
TSGene10057
GENETestsABCC5
Target ValidationABCC5
Huge Navigator ABCC5 [HugePedia]
snp3D : Map Gene to Disease10057
BioCentury BCIQABCC5
ClinGenABCC5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10057
Chemical/Pharm GKB GenePA395
Clinical trialABCC5
Miscellaneous
canSAR (ICR)ABCC5 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCC5
EVEXABCC5
GoPubMedABCC5
iHOPABCC5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:45:51 CEST 2017

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