Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ABCC6 (ATP-binding cassette, sub-family C (CFTR/MRP), member 6)

Identity

Other namesABC34
ARA
EST349056
GACI2
MLP1
MOAT-E
MOATE
MRP6
PXE
PXE1
URG7
HGNC (Hugo) ABCC6
LocusID (NCBI) 368
Location 16p13.11
Location_base_pair Starts at 16315044 and ends at 16317328 bp from pter ( according to hg19-Feb_2009)
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)ABCC6   57
Cards
Entrez_Gene (NCBI)ABCC6  368  ATP-binding cassette, sub-family C (CFTR/MRP), member 6
GeneCards (Weizmann)ABCC6
Ensembl (Hinxton)ENSG00000091262 [Gene_View]  chr16:16315044-16317328 [Contig_View]  ABCC6 [Vega]
ICGC DataPortalENSG00000091262
cBioPortalABCC6
AceView (NCBI)ABCC6
Genatlas (Paris)ABCC6
WikiGenes368
SOURCE (Princeton)NM_001079528 NM_001171
Genomic and cartography
GoldenPath (UCSC)ABCC6  -  16p13.11   chr16:16315044-16317328 -  16p13.11   [Description]    (hg19-Feb_2009)
EnsemblABCC6 - 16p13.11 [CytoView]
Mapping of homologs : NCBIABCC6 [Mapview]
OMIM177850   264800   603234   614473   
Gene and transcription
Genbank (Entrez)AF076622 AF168791 AI074459 AK298295 AM711638
RefSeq transcript (Entrez)NM_001079528 NM_001171
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NG_007558 NT_010393 NT_187607 NW_001838356 NW_001838370 NW_004929400
Consensus coding sequences : CCDS (NCBI)ABCC6
Cluster EST : UnigeneHs.442182 [ NCBI ]
CGAP (NCI)Hs.442182
Alternative Splicing : Fast-db (Paris)GSHG0011662
Alternative Splicing GalleryENSG00000091262
Gene ExpressionABCC6 [ NCBI-GEO ]     ABCC6 [ SEEK ]   ABCC6 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95255 (Uniprot)
NextProtO95255  [Medical]
With graphics : InterProO95255
Splice isoforms : SwissVarO95255 (Swissvar)
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase [organisation]   ABC1_TM_dom [organisation]   ABC_transporter-like [organisation]   ABC_transporter_CS [organisation]   ABC_transptr_TM_dom [organisation]   Multidrug-R_assoc [organisation]   P-loop_NTPase [organisation]  
Related proteins : CluSTrO95255
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00664    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations368
Blocks (Seattle)O95255
Human Protein AtlasENSG00000091262 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO95255
HPRD04453
IPIIPI00029455   IPI00748343   IPI00015182   IPI01012908   IPI01012725   IPI00643499   
Protein Interaction databases
DIP (DOE-UCLA)O95255
IntAct (EBI)O95255
FunCoupENSG00000091262
BioGRIDABCC6
InParanoidO95255
Interologous Interaction database O95255
IntegromeDBABCC6
STRING (EMBL)ABCC6
Ontologies - Pathways
Ontology : AmiGOtransporter activity  ATP binding  plasma membrane  ATP catabolic process  transport  visual perception  integral component of membrane  basolateral plasma membrane  apical plasma membrane  lateral plasma membrane  response to drug  ATPase activity, coupled to transmembrane movement of substances  transmembrane transport  
Ontology : EGO-EBItransporter activity  ATP binding  plasma membrane  ATP catabolic process  transport  visual perception  integral component of membrane  basolateral plasma membrane  apical plasma membrane  lateral plasma membrane  response to drug  ATPase activity, coupled to transmembrane movement of substances  transmembrane transport  
Pathways : KEGGABC transporters   
Protein Interaction DatabaseABCC6
Wikipedia pathwaysABCC6
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ABCC6
snp3D : Map Gene to Disease368
SNP (GeneSNP Utah)ABCC6
SNP : HGBaseABCC6
Genetic variants : HAPMAPABCC6
Exome VariantABCC6
1000_GenomesABCC6 
ICGC programENSG00000091262 
Somatic Mutations in Cancer : COSMICABCC6 
CONAN: Copy Number AnalysisABCC6 
Mutations and Diseases : HGMDABCC6
Mutations and Diseases : intOGenABCC6
Genomic VariantsABCC6  ABCC6 [DGVbeta]
dbVarABCC6
ClinVarABCC6
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM177850    264800    603234    614473   
MedgenABCC6
GENETestsABCC6
Disease Genetic AssociationABCC6
Huge Navigator ABCC6 [HugePedia]  ABCC6 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneABCC6
Homology/Alignments : Family Browser (UCSC)ABCC6
Phylogenetic Trees/Animal Genes : TreeFamABCC6
Chemical/Protein Interactions : CTD368
Chemical/Pharm GKB GenePA58
Clinical trialABCC6
Cancer Resource (Charite)ENSG00000091262
Other databases
Probes
Litterature
PubMed97 Pubmed reference(s) in Entrez
CoreMineABCC6
iHOPABCC6
OncoSearchABCC6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:36:56 CEST 2014

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