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ABCA6 (ATP binding cassette subfamily A member 6)

Identity

Alias (NCBI)EST155051
HGNC (Hugo) ABCA6
HGNC Alias symbEST155051
HGNC Previous nameATP-binding cassette, sub-family A (ABC1), member 6
LocusID (NCBI) 23460
Atlas_Id 55313
Location 17q24.2  [Link to chromosome band 17q24]
Location_base_pair Starts at 69078702 and ends at 69141895 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)
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    ATP binding cassette subfamily A member 6
AliasesEST155051
GeneCards (Weizmann)ABCA6
Ensembl hg19 (Hinxton)ENSG00000154262 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154262 [Gene_View]  ENSG00000154262 [Sequence]  chr17:69078702-69141895 [Contig_View]  ABCA6 [Vega]
ICGC DataPortalENSG00000154262
TCGA cBioPortalABCA6
AceView (NCBI)ABCA6
Genatlas (Paris)ABCA6
SOURCE (Princeton)ABCA6
Genetics Home Reference (NIH)ABCA6
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA6  -     chr17:69078702-69141895 -  17q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA6  -     17q24.2   [Description]    (hg19-Feb_2009)
GoldenPathABCA6 - 17q24.2 [CytoView hg19]  ABCA6 - 17q24.2 [CytoView hg38]
ImmunoBaseENSG00000154262
Genome Data Viewer NCBIABCA6 [Mapview hg19]  
OMIM612504   
Gene and transcription
Genbank (Entrez)AF373290 AK097296 AK125487 AK308431 AY028898
RefSeq transcript (Entrez)NM_080284 NM_172346
Consensus coding sequences : CCDS (NCBI)ABCA6
Gene ExpressionABCA6 [ NCBI-GEO ]   ABCA6 [ EBI - ARRAY_EXPRESS ]   ABCA6 [ SEEK ]   ABCA6 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA6 [ Firebrowse - Broad ]
GenevisibleExpression of ABCA6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23460
GTEX Portal (Tissue expression)ABCA6
Human Protein AtlasENSG00000154262-ABCA6 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8N139
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_transporter-like    ABCA    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
SuperfamilyQ8N139
AlphaFold pdb e-kbQ8N139   
Human Protein Atlas [tissue]ENSG00000154262-ABCA6 [tissue]
HPRD10622
Protein Interaction databases
DIP (DOE-UCLA)Q8N139
IntAct (EBI)Q8N139
BioGRIDABCA6
STRING (EMBL)ABCA6
ZODIACABCA6
Ontologies - Pathways
QuickGOQ8N139
Ontology : AmiGOGolgi membrane  lipid transporter activity  ATP binding  nucleoplasm  plasma membrane  plasma membrane  lipid transport  integral component of membrane  ATPase-coupled transmembrane transporter activity  intracellular membrane-bounded organelle  transmembrane transport  
Ontology : EGO-EBIGolgi membrane  lipid transporter activity  ATP binding  nucleoplasm  plasma membrane  plasma membrane  lipid transport  integral component of membrane  ATPase-coupled transmembrane transporter activity  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
Homologs : HomoloGeneABCA6
Homology/Alignments : Family Browser (UCSC)ABCA6
Gene fusions - Rearrangements
Fusion : QuiverABCA6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA6
dbVarABCA6
ClinVarABCA6
MonarchABCA6
1000_GenomesABCA6 
Exome Variant ServerABCA6
GNOMAD BrowserENSG00000154262
Varsome BrowserABCA6
ACMGABCA6 variants
VarityQ8N139
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]  
Somatic Mutations in Cancer : COSMIC3DABCA6
Mutations and Diseases : HGMDABCA6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaABCA6
DgiDB (Drug Gene Interaction Database)ABCA6
DoCM (Curated mutations)ABCA6
CIViC (Clinical Interpretations of Variants in Cancer)ABCA6
Cancer3DABCA6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612504   
Orphanet
DisGeNETABCA6
MedgenABCA6
Genetic Testing Registry ABCA6
NextProtQ8N139 [Medical]
GENETestsABCA6
Target ValidationABCA6
Huge Navigator ABCA6 [HugePedia]
ClinGenABCA6
Clinical trials, drugs, therapy
MyCancerGenomeABCA6
Protein Interactions : CTDABCA6
Pharm GKB GenePA24381
PharosQ8N139
Clinical trialABCA6
Miscellaneous
canSAR (ICR)ABCA6
HarmonizomeABCA6
DataMed IndexABCA6
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXABCA6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 14:57:59 CEST 2021

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