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ABCA3 (ATP binding cassette subfamily A member 3)

Identity

Other namesABC-C
ABC3
EST111653
LBM180
SMDP3
HGNC (Hugo) ABCA3
LocusID (NCBI) 21
Atlas_Id 45536
Location 16p13.3
Location_base_pair Starts at 2325879 and ends at 2390747 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABCA3 (16p13.3) / ABCA3 (16p13.3)PARN (16p13.12) / ABCA3 (16p13.3)PARN 16p13.12 / ABCA3 16p13.3

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)ABCA3   33
Cards
Entrez_Gene (NCBI)ABCA3  21  ATP binding cassette subfamily A member 3
AliasesABC-C; ABC3; EST111653; LBM180; 
SMDP3
GeneCards (Weizmann)ABCA3
Ensembl hg19 (Hinxton)ENSG00000167972 [Gene_View]  chr16:2325879-2390747 [Contig_View]  ABCA3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167972 [Gene_View]  chr16:2325879-2390747 [Contig_View]  ABCA3 [Vega]
ICGC DataPortalENSG00000167972
TCGA cBioPortalABCA3
AceView (NCBI)ABCA3
Genatlas (Paris)ABCA3
WikiGenes21
SOURCE (Princeton)ABCA3
Genomic and cartography
GoldenPath hg19 (UCSC)ABCA3  -     chr16:2325879-2390747 -  16p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABCA3  -     16p13.3   [Description]    (hg38-Dec_2013)
EnsemblABCA3 - 16p13.3 [CytoView hg19]  ABCA3 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBIABCA3 [Mapview hg19]  ABCA3 [Mapview hg38]
OMIM601615   610921   
Gene and transcription
Genbank (Entrez)AB070929 AB210044 AK310864 BC020724 BC035752
RefSeq transcript (Entrez)NM_001089
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_011790 NT_010393 NW_004929400
Consensus coding sequences : CCDS (NCBI)ABCA3
Cluster EST : UnigeneHs.26630 [ NCBI ]
CGAP (NCI)Hs.26630
Alternative Splicing GalleryENSG00000167972
Gene ExpressionABCA3 [ NCBI-GEO ]   ABCA3 [ EBI - ARRAY_EXPRESS ]   ABCA3 [ SEEK ]   ABCA3 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)21
GTEX Portal (Tissue expression)ABCA3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99758 (Uniprot)
NextProtQ99758  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99758
Splice isoforms : SwissVarQ99758 (Swissvar)
PhosPhoSitePlusQ99758
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_A    ABC_transporter-like    ABC_transporter_CS    ABCA3    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations21
Blocks (Seattle)ABCA3
SuperfamilyQ99758
Human Protein AtlasENSG00000167972
Peptide AtlasQ99758
HPRD03369
IPIIPI00017800   IPI00619902   
Protein Interaction databases
DIP (DOE-UCLA)Q99758
IntAct (EBI)Q99758
FunCoupENSG00000167972
BioGRIDABCA3
STRING (EMBL)ABCA3
ZODIACABCA3
Ontologies - Pathways
QuickGOQ99758
Ontology : AmiGOtransporter activity  lipid transporter activity  ATP binding  extracellular space  plasma membrane  transport  lipid transport  membrane  integral component of membrane  response to drug  ATPase activity, coupled to transmembrane movement of substances  cellular protein metabolic process  response to glucocorticoid  transmembrane transport  alveolar lamellar body  lamellar body membrane  alveolar lamellar body membrane  
Ontology : EGO-EBItransporter activity  lipid transporter activity  ATP binding  extracellular space  plasma membrane  transport  lipid transport  membrane  integral component of membrane  response to drug  ATPase activity, coupled to transmembrane movement of substances  cellular protein metabolic process  response to glucocorticoid  transmembrane transport  alveolar lamellar body  lamellar body membrane  alveolar lamellar body membrane  
Pathways : KEGGABC transporters   
NDEx Network
Atlas of Cancer Signalling NetworkABCA3
Wikipedia pathwaysABCA3
Orthology - Evolution
OrthoDB21
GeneTree (enSembl)ENSG00000167972
Phylogenetic Trees/Animal Genes : TreeFamABCA3
Homologs : HomoloGeneABCA3
Homology/Alignments : Family Browser (UCSC)ABCA3
Gene fusions - Rearrangements
Fusion: TCGAPARN 16p13.12 ABCA3 16p13.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerABCA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA3
dbVarABCA3
ClinVarABCA3
1000_GenomesABCA3 
Exome Variant ServerABCA3
ExAC (Exome Aggregation Consortium)ABCA3 (select the gene name)
Genetic variants : HAPMAP21
Genomic Variants (DGV)ABCA3 [DGVbeta]
Mutations
ICGC Data PortalABCA3 
TCGA Data PortalABCA3 
Broad Tumor PortalABCA3
OASIS PortalABCA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA3 
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 ABCA3
DgiDB (Drug Gene Interaction Database)ABCA3
DoCM (Curated mutations)ABCA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCA3 (select a term)
intoGenABCA3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:2325879-2390747  ENSG00000167972
CONAN: Copy Number AnalysisABCA3 
Mutations and Diseases : HGMDABCA3
OMIM601615    610921   
MedgenABCA3
Genetic Testing Registry ABCA3
NextProtQ99758 [Medical]
TSGene21
GENETestsABCA3
Huge Navigator ABCA3 [HugePedia]
snp3D : Map Gene to Disease21
BioCentury BCIQABCA3
ClinGenABCA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD21
Chemical/Pharm GKB GenePA24378
Clinical trialABCA3
Miscellaneous
canSAR (ICR)ABCA3 (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCA3
EVEXABCA3
GoPubMedABCA3
iHOPABCA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 10:52:26 CEST 2016

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