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APBA2 (amyloid beta precursor protein binding family A member 2)

Identity

Alias_namesX11L
MINT2
X11-like
amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)
amyloid beta (A4) precursor protein-binding, family A, member 2
Alias_symbol (synonym)D15S1518E
LIN-10
MGC:14091
HsT16821
Other aliasX11-BETA
HGNC (Hugo) APBA2
LocusID (NCBI) 321
Atlas_Id 51371
Location 15q13.1  [Link to chromosome band 15q13]
Location_base_pair Starts at 28921637 and ends at 29118313 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APBA2 (15q13.1) / GABRB3 (15q12)APBA2 (15q13.1) / RP11-536G4.1 ()FBXL4 (6q16.1) / APBA2 (15q13.1)
APBA2 15q13.1 / GABRB3 15q12APBA2 15q13.1 RP11-536G4.1

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)APBA2   579
Cards
Entrez_Gene (NCBI)APBA2  321  amyloid beta precursor protein binding family A member 2
AliasesD15S1518E; HsT16821; LIN-10; MGC:14091; 
MINT2; X11-BETA; X11L
GeneCards (Weizmann)APBA2
Ensembl hg19 (Hinxton)ENSG00000034053 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000034053 [Gene_View]  chr15:28921637-29118313 [Contig_View]  APBA2 [Vega]
ICGC DataPortalENSG00000034053
TCGA cBioPortalAPBA2
AceView (NCBI)APBA2
Genatlas (Paris)APBA2
WikiGenes321
SOURCE (Princeton)APBA2
Genetics Home Reference (NIH)APBA2
Genomic and cartography
GoldenPath hg38 (UCSC)APBA2  -     chr15:28921637-29118313 +  15q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APBA2  -     15q13.1   [Description]    (hg19-Feb_2009)
EnsemblAPBA2 - 15q13.1 [CytoView hg19]  APBA2 - 15q13.1 [CytoView hg38]
Mapping of homologs : NCBIAPBA2 [Mapview hg19]  APBA2 [Mapview hg38]
OMIM602712   
Gene and transcription
Genbank (Entrez)AB014719 AB209281 AF029108 AF047348 AK124794
RefSeq transcript (Entrez)NM_001130414 NM_005503
RefSeq genomic (Entrez)NC_000015 NC_018926 NT_187660 NW_011332701
Consensus coding sequences : CCDS (NCBI)APBA2
Cluster EST : UnigeneHs.721380 [ NCBI ]
CGAP (NCI)Hs.721380
Alternative Splicing GalleryENSG00000034053
Gene ExpressionAPBA2 [ NCBI-GEO ]   APBA2 [ EBI - ARRAY_EXPRESS ]   APBA2 [ SEEK ]   APBA2 [ MEM ]
Gene Expression Viewer (FireBrowse)APBA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)321
GTEX Portal (Tissue expression)APBA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99767   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99767  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99767
Splice isoforms : SwissVarQ99767
PhosPhoSitePlusQ99767
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    PID (PS01179)   
Domains : Interpro (EBI)Apba2    PDZ    PH_dom-like    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)APBA2
DMDM Disease mutations321
Blocks (Seattle)APBA2
SuperfamilyQ99767
Human Protein AtlasENSG00000034053
Peptide AtlasQ99767
HPRD04090
IPIIPI00017817   IPI00446113   IPI00847473   
Protein Interaction databases
DIP (DOE-UCLA)Q99767
IntAct (EBI)Q99767
FunCoupENSG00000034053
BioGRIDAPBA2
STRING (EMBL)APBA2
ZODIACAPBA2
Ontologies - Pathways
QuickGOQ99767
Ontology : AmiGObeta-amyloid binding  in utero embryonic development  protein binding  plasma membrane  chemical synaptic transmission  nervous system development  locomotory behavior  synaptic vesicle  regulation of gene expression  protein transport  multicellular organism growth  
Ontology : EGO-EBIbeta-amyloid binding  in utero embryonic development  protein binding  plasma membrane  chemical synaptic transmission  nervous system development  locomotory behavior  synaptic vesicle  regulation of gene expression  protein transport  multicellular organism growth  
NDEx NetworkAPBA2
Atlas of Cancer Signalling NetworkAPBA2
Wikipedia pathwaysAPBA2
Orthology - Evolution
OrthoDB321
GeneTree (enSembl)ENSG00000034053
Phylogenetic Trees/Animal Genes : TreeFamAPBA2
HOVERGENQ99767
HOGENOMQ99767
Homologs : HomoloGeneAPBA2
Homology/Alignments : Family Browser (UCSC)APBA2
Gene fusions - Rearrangements
Fusion : MitelmanAPBA2/GABRB3 [15q13.1/15q12]  
Fusion: TCGAAPBA2 15q13.1 GABRB3 15q12 BRCA
Fusion: TCGAAPBA2 15q13.1 RP11-536G4.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPBA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APBA2
dbVarAPBA2
ClinVarAPBA2
1000_GenomesAPBA2 
Exome Variant ServerAPBA2
ExAC (Exome Aggregation Consortium)APBA2 (select the gene name)
Genetic variants : HAPMAP321
Genomic Variants (DGV)APBA2 [DGVbeta]
DECIPHERAPBA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPBA2 
Mutations
ICGC Data PortalAPBA2 
TCGA Data PortalAPBA2 
Broad Tumor PortalAPBA2
OASIS PortalAPBA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPBA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPBA2
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 APBA2
DgiDB (Drug Gene Interaction Database)APBA2
DoCM (Curated mutations)APBA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APBA2 (select a term)
intoGenAPBA2
Cancer3DAPBA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602712   
Orphanet
MedgenAPBA2
Genetic Testing Registry APBA2
NextProtQ99767 [Medical]
TSGene321
GENETestsAPBA2
Target ValidationAPBA2
Huge Navigator APBA2 [HugePedia]
snp3D : Map Gene to Disease321
BioCentury BCIQAPBA2
ClinGenAPBA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD321
Chemical/Pharm GKB GenePA24870
Clinical trialAPBA2
Miscellaneous
canSAR (ICR)APBA2 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPBA2
EVEXAPBA2
GoPubMedAPBA2
iHOPAPBA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:23:57 CEST 2017

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