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ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group))

Identity

Alias_namesATP-binding cassette, sub-family B (MDR/TAP), member 6
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
Alias_symbol (synonym)EST45597
umat
MTABC3
Other aliasABC
ABC14
DUH3
LAN
MCOPCB7
PRP
PSHK2
HGNC (Hugo) ABCB6
LocusID (NCBI) 10058
Atlas_Id 537
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 220074488 and ends at 220083712 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABCB6 (2q35) / ABCB6 (2q35)FSTL1 (3q13.33) / ABCB6 (2q35)

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)ABCB6   47
LRG (Locus Reference Genomic)LRG_824
Cards
Entrez_Gene (NCBI)ABCB6  10058  ATP binding cassette subfamily B member 6 (Langereis blood group)
AliasesABC; ABC14; DUH3; LAN; 
MCOPCB7; MTABC3; PRP; PSHK2; umat
GeneCards (Weizmann)ABCB6
Ensembl hg19 (Hinxton)ENSG00000115657 [Gene_View]  chr2:220074488-220083712 [Contig_View]  ABCB6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000115657 [Gene_View]  chr2:220074488-220083712 [Contig_View]  ABCB6 [Vega]
ICGC DataPortalENSG00000115657
TCGA cBioPortalABCB6
AceView (NCBI)ABCB6
Genatlas (Paris)ABCB6
WikiGenes10058
SOURCE (Princeton)ABCB6
Genetics Home Reference (NIH)ABCB6
Genomic and cartography
GoldenPath hg19 (UCSC)ABCB6  -     chr2:220074488-220083712 -  2q35   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABCB6  -     2q35   [Description]    (hg38-Dec_2013)
EnsemblABCB6 - 2q35 [CytoView hg19]  ABCB6 - 2q35 [CytoView hg38]
Mapping of homologs : NCBIABCB6 [Mapview hg19]  ABCB6 [Mapview hg38]
OMIM111600   605452   614497   615402   
Gene and transcription
Genbank (Entrez)AF070598 AF076775 AF308472 AJ289233 AK026067
RefSeq transcript (Entrez)NM_005689
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_032110 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)ABCB6
Cluster EST : UnigeneHs.107911 [ NCBI ]
CGAP (NCI)Hs.107911
Alternative Splicing GalleryENSG00000115657
Gene ExpressionABCB6 [ NCBI-GEO ]   ABCB6 [ EBI - ARRAY_EXPRESS ]   ABCB6 [ SEEK ]   ABCB6 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCB6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10058
GTEX Portal (Tissue expression)ABCB6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NP58   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NP58  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NP58
Splice isoforms : SwissVarQ9NP58
PhosPhoSitePlusQ9NP58
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    MTABC_N    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)    MTABC_N (PF16185)   
Domain families : Pfam (NCBI)pfam00664    pfam00005    pfam16185   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCB6
DMDM Disease mutations10058
Blocks (Seattle)ABCB6
PDB (SRS)3NH6    3NH9    3NHA    3NHB   
PDB (PDBSum)3NH6    3NH9    3NHA    3NHB   
PDB (IMB)3NH6    3NH9    3NHA    3NHB   
PDB (RSDB)3NH6    3NH9    3NHA    3NHB   
Structural Biology KnowledgeBase3NH6    3NH9    3NHA    3NHB   
SCOP (Structural Classification of Proteins)3NH6    3NH9    3NHA    3NHB   
CATH (Classification of proteins structures)3NH6    3NH9    3NHA    3NHB   
SuperfamilyQ9NP58
Human Protein AtlasENSG00000115657
Peptide AtlasQ9NP58
HPRD09261
IPIIPI00742677   IPI00065486   IPI00910929   IPI00816705   IPI00916230   IPI00916884   IPI00926577   
Protein Interaction databases
DIP (DOE-UCLA)Q9NP58
IntAct (EBI)Q9NP58
FunCoupENSG00000115657
BioGRIDABCB6
STRING (EMBL)ABCB6
ZODIACABCB6
Ontologies - Pathways
QuickGOQ9NP58
Ontology : AmiGOGolgi membrane  ATP binding  mitochondrion  mitochondrion  mitochondrial envelope  mitochondrial outer membrane  mitochondrial outer membrane  mitochondrial inner membrane  endosome  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  porphyrin-containing compound biosynthetic process  transport  cellular iron ion homeostasis  cellular iron ion homeostasis  brain development  endosome membrane  heme transporter activity  heme-transporting ATPase activity  efflux transmembrane transporter activity  heme transport  heme transport  heme binding  integral component of mitochondrial outer membrane  ATP-binding cassette (ABC) transporter complex  skin development  transmembrane transport  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  ATP binding  mitochondrion  mitochondrion  mitochondrial envelope  mitochondrial outer membrane  mitochondrial outer membrane  mitochondrial inner membrane  endosome  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  porphyrin-containing compound biosynthetic process  transport  cellular iron ion homeostasis  cellular iron ion homeostasis  brain development  endosome membrane  heme transporter activity  heme-transporting ATPase activity  efflux transmembrane transporter activity  heme transport  heme transport  heme binding  integral component of mitochondrial outer membrane  ATP-binding cassette (ABC) transporter complex  skin development  transmembrane transport  extracellular exosome  
Pathways : KEGGABC transporters   
NDEx NetworkABCB6
Atlas of Cancer Signalling NetworkABCB6
Wikipedia pathwaysABCB6
Orthology - Evolution
OrthoDB10058
GeneTree (enSembl)ENSG00000115657
Phylogenetic Trees/Animal Genes : TreeFamABCB6
HOVERGENQ9NP58
HOGENOMQ9NP58
Homologs : HomoloGeneABCB6
Homology/Alignments : Family Browser (UCSC)ABCB6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCB6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCB6
dbVarABCB6
ClinVarABCB6
1000_GenomesABCB6 
Exome Variant ServerABCB6
ExAC (Exome Aggregation Consortium)ABCB6 (select the gene name)
Genetic variants : HAPMAP10058
Genomic Variants (DGV)ABCB6 [DGVbeta]
DECIPHER (Syndromes)2:220074488-220083712  ENSG00000115657
CONAN: Copy Number AnalysisABCB6 
Mutations
ICGC Data PortalABCB6 
TCGA Data PortalABCB6 
Broad Tumor PortalABCB6
OASIS PortalABCB6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCB6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCB6
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ABCB6
DgiDB (Drug Gene Interaction Database)ABCB6
DoCM (Curated mutations)ABCB6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCB6 (select a term)
intoGenABCB6
Cancer3DABCB6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM111600    605452    614497    615402   
Orphanet8630    11939    13959    13955    13964    13962    13963    13960    13961   
MedgenABCB6
Genetic Testing Registry ABCB6
NextProtQ9NP58 [Medical]
TSGene10058
GENETestsABCB6
Huge Navigator ABCB6 [HugePedia]
snp3D : Map Gene to Disease10058
BioCentury BCIQABCB6
ClinGenABCB6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10058
Chemical/Pharm GKB GenePA24388
Clinical trialABCB6
Miscellaneous
canSAR (ICR)ABCB6 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCB6
EVEXABCB6
GoPubMedABCB6
iHOPABCB6
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 : Thu Mar 30 14:51:10 CEST 2017

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