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ABCA6 (ATP binding cassette subfamily A member 6)

Identity

Alias_namesATP-binding cassette
Alias_symbol (synonym)EST155051
Other alias
HGNC (Hugo) ABCA6
LocusID (NCBI) 23460
Atlas_Id 55313
Location 17q24.2  [Link to chromosome band 17q24]
Location_base_pair Starts at 69078706 and ends at 69141874 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABCA6 (17q24.2) / LMNA (1q22)AP1G1 (16q22.2) / ABCA6 (17q24.2)

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)ABCA6   36
Cards
Entrez_Gene (NCBI)ABCA6  23460  ATP binding cassette subfamily A member 6
AliasesEST155051
GeneCards (Weizmann)ABCA6
Ensembl hg19 (Hinxton)ENSG00000154262 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154262 [Gene_View]  chr17:69078706-69141874 [Contig_View]  ABCA6 [Vega]
ICGC DataPortalENSG00000154262
TCGA cBioPortalABCA6
AceView (NCBI)ABCA6
Genatlas (Paris)ABCA6
WikiGenes23460
SOURCE (Princeton)ABCA6
Genetics Home Reference (NIH)ABCA6
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA6  -     chr17:69078706-69141874 -  17q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA6  -     17q24.2   [Description]    (hg19-Feb_2009)
EnsemblABCA6 - 17q24.2 [CytoView hg19]  ABCA6 - 17q24.2 [CytoView hg38]
Mapping of homologs : NCBIABCA6 [Mapview hg19]  ABCA6 [Mapview hg38]
OMIM612504   
Gene and transcription
Genbank (Entrez)AF373290 AK097296 AK125487 AK308431 AY028898
RefSeq transcript (Entrez)NM_080284 NM_172346
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCA6
Cluster EST : UnigeneHs.709514 [ NCBI ]
CGAP (NCI)Hs.709514
Alternative Splicing GalleryENSG00000154262
Gene ExpressionABCA6 [ NCBI-GEO ]   ABCA6 [ EBI - ARRAY_EXPRESS ]   ABCA6 [ SEEK ]   ABCA6 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23460
GTEX Portal (Tissue expression)ABCA6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N139   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N139  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N139
Splice isoforms : SwissVarQ8N139
PhosPhoSitePlusQ8N139
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_A    ABC_transporter-like    ABCA6    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA6
DMDM Disease mutations23460
Blocks (Seattle)ABCA6
SuperfamilyQ8N139
Human Protein AtlasENSG00000154262
Peptide AtlasQ8N139
HPRD10622
IPIIPI00295640   IPI00787757   IPI00787668   IPI01018236   
Protein Interaction databases
DIP (DOE-UCLA)Q8N139
IntAct (EBI)Q8N139
FunCoupENSG00000154262
BioGRIDABCA6
STRING (EMBL)ABCA6
ZODIACABCA6
Ontologies - Pathways
QuickGOQ8N139
Ontology : AmiGOATP binding  nucleoplasm  lipid transport  integral component of membrane  ATPase activity, coupled to transmembrane movement of substances  intracellular membrane-bounded organelle  transmembrane transport  
Ontology : EGO-EBIATP binding  nucleoplasm  lipid transport  integral component of membrane  ATPase activity, coupled to transmembrane movement of substances  intracellular membrane-bounded organelle  transmembrane transport  
Pathways : KEGGABC transporters   
NDEx NetworkABCA6
Atlas of Cancer Signalling NetworkABCA6
Wikipedia pathwaysABCA6
Orthology - Evolution
OrthoDB23460
GeneTree (enSembl)ENSG00000154262
Phylogenetic Trees/Animal Genes : TreeFamABCA6
HOVERGENQ8N139
HOGENOMQ8N139
Homologs : HomoloGeneABCA6
Homology/Alignments : Family Browser (UCSC)ABCA6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA6
dbVarABCA6
ClinVarABCA6
1000_GenomesABCA6 
Exome Variant ServerABCA6
ExAC (Exome Aggregation Consortium)ABCA6 (select the gene name)
Genetic variants : HAPMAP23460
Genomic Variants (DGV)ABCA6 [DGVbeta]
DECIPHERABCA6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCA6 
Mutations
ICGC Data PortalABCA6 
TCGA Data PortalABCA6 
Broad Tumor PortalABCA6
OASIS PortalABCA6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCA6
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 ABCA6
DgiDB (Drug Gene Interaction Database)ABCA6
DoCM (Curated mutations)ABCA6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCA6 (select a term)
intoGenABCA6
Cancer3DABCA6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612504   
Orphanet
MedgenABCA6
Genetic Testing Registry ABCA6
NextProtQ8N139 [Medical]
TSGene23460
GENETestsABCA6
Target ValidationABCA6
Huge Navigator ABCA6 [HugePedia]
snp3D : Map Gene to Disease23460
BioCentury BCIQABCA6
ClinGenABCA6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23460
Chemical/Pharm GKB GenePA24381
Clinical trialABCA6
Miscellaneous
canSAR (ICR)ABCA6 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCA6
EVEXABCA6
GoPubMedABCA6
iHOPABCA6
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 13:45:50 CEST 2017

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