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APBA3 (amyloid beta (A4) precursor protein-binding, family A, member 3)

Identity

Alias_namesamyloid beta (A4) precursor protein-binding, family A, member 3
Alias_symbol (synonym)X11L2
mint3
HGNC (Hugo) APBA3
LocusID (NCBI) 9546
Atlas_Id 60415
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 3750771 and ends at 3761673 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PIP4K2B (17q12) / APBA3 (19p13.3)

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)APBA3   580
Cards
Entrez_Gene (NCBI)APBA3  9546  amyloid beta (A4) precursor protein-binding, family A, member 3
AliasesMGC:15815; X11L2; mint3
GeneCards (Weizmann)APBA3
Ensembl hg19 (Hinxton)ENSG00000011132 [Gene_View]  chr19:3750771-3761673 [Contig_View]  APBA3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000011132 [Gene_View]  chr19:3750771-3761673 [Contig_View]  APBA3 [Vega]
ICGC DataPortalENSG00000011132
TCGA cBioPortalAPBA3
AceView (NCBI)APBA3
Genatlas (Paris)APBA3
WikiGenes9546
SOURCE (Princeton)APBA3
Genetics Home Reference (NIH)APBA3
Genomic and cartography
GoldenPath hg19 (UCSC)APBA3  -     chr19:3750771-3761673 -  19p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)APBA3  -     19p13.3   [Description]    (hg38-Dec_2013)
EnsemblAPBA3 - 19p13.3 [CytoView hg19]  APBA3 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIAPBA3 [Mapview hg19]  APBA3 [Mapview hg38]
OMIM604262   
Gene and transcription
Genbank (Entrez)AB021638 AB209603 AF029110 BC008338 BC086306
RefSeq transcript (Entrez)NM_004886
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929412
Consensus coding sequences : CCDS (NCBI)APBA3
Cluster EST : UnigeneHs.465607 [ NCBI ]
CGAP (NCI)Hs.465607
Alternative Splicing GalleryENSG00000011132
Gene ExpressionAPBA3 [ NCBI-GEO ]   APBA3 [ EBI - ARRAY_EXPRESS ]   APBA3 [ SEEK ]   APBA3 [ MEM ]
Gene Expression Viewer (FireBrowse)APBA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9546
GTEX Portal (Tissue expression)APBA3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO96018   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO96018  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO96018
Splice isoforms : SwissVarO96018
PhosPhoSitePlusO96018
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    PID (PS01179)   
Domains : Interpro (EBI)Apba3    PDZ    PH_like_dom    PTB/PI_dom   
Domain families : Pfam (Sanger)PDZ (PF00595)    PID (PF00640)   
Domain families : Pfam (NCBI)pfam00595    pfam00640   
Domain families : Smart (EMBL)PDZ (SM00228)  PTB (SM00462)  
Conserved Domain (NCBI)APBA3
DMDM Disease mutations9546
Blocks (Seattle)APBA3
PDB (SRS)2YT7    2YT8   
PDB (PDBSum)2YT7    2YT8   
PDB (IMB)2YT7    2YT8   
PDB (RSDB)2YT7    2YT8   
Structural Biology KnowledgeBase2YT7    2YT8   
SCOP (Structural Classification of Proteins)2YT7    2YT8   
CATH (Classification of proteins structures)2YT7    2YT8   
SuperfamilyO96018
Human Protein AtlasENSG00000011132
Peptide AtlasO96018
HPRD05038
IPIIPI00014073   IPI00555939   
Protein Interaction databases
DIP (DOE-UCLA)O96018
IntAct (EBI)O96018
FunCoupENSG00000011132
BioGRIDAPBA3
STRING (EMBL)APBA3
ZODIACAPBA3
Ontologies - Pathways
QuickGOO96018
Ontology : AmiGObeta-amyloid binding  in utero embryonic development  enzyme inhibitor activity  protein binding  synaptic transmission  regulation of gene expression  protein transport  enzyme binding  negative regulation of catalytic activity  perinuclear region of cytoplasm  
Ontology : EGO-EBIbeta-amyloid binding  in utero embryonic development  enzyme inhibitor activity  protein binding  synaptic transmission  regulation of gene expression  protein transport  enzyme binding  negative regulation of catalytic activity  perinuclear region of cytoplasm  
NDEx NetworkAPBA3
Atlas of Cancer Signalling NetworkAPBA3
Wikipedia pathwaysAPBA3
Orthology - Evolution
OrthoDB9546
GeneTree (enSembl)ENSG00000011132
Phylogenetic Trees/Animal Genes : TreeFamAPBA3
HOVERGENO96018
HOGENOMO96018
Homologs : HomoloGeneAPBA3
Homology/Alignments : Family Browser (UCSC)APBA3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPBA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APBA3
dbVarAPBA3
ClinVarAPBA3
1000_GenomesAPBA3 
Exome Variant ServerAPBA3
ExAC (Exome Aggregation Consortium)APBA3 (select the gene name)
Genetic variants : HAPMAP9546
Genomic Variants (DGV)APBA3 [DGVbeta]
DECIPHER (Syndromes)19:3750771-3761673  ENSG00000011132
CONAN: Copy Number AnalysisAPBA3 
Mutations
ICGC Data PortalAPBA3 
TCGA Data PortalAPBA3 
Broad Tumor PortalAPBA3
OASIS PortalAPBA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPBA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPBA3
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 APBA3
DgiDB (Drug Gene Interaction Database)APBA3
DoCM (Curated mutations)APBA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APBA3 (select a term)
intoGenAPBA3
Cancer3DAPBA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604262   
Orphanet
MedgenAPBA3
Genetic Testing Registry APBA3
NextProtO96018 [Medical]
TSGene9546
GENETestsAPBA3
Huge Navigator APBA3 [HugePedia]
snp3D : Map Gene to Disease9546
BioCentury BCIQAPBA3
ClinGenAPBA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9546
Chemical/Pharm GKB GenePA24872
Clinical trialAPBA3
Miscellaneous
canSAR (ICR)APBA3 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPBA3
EVEXAPBA3
GoPubMedAPBA3
iHOPAPBA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Dec 29 13:18:52 CET 2016

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