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

Identity

Alias (NCBI)D15S1518E
HsT16821
LIN-10
MGC:14091
MINT2
X11-BETA
X11L
HGNC (Hugo) APBA2
HGNC Alias symbD15S1518E
LIN-10
MGC:14091
HsT16821
HGNC Previous nameX11L
 MINT2
HGNC Previous nameX11-like
 amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)
 amyloid beta (A4) precursor protein-binding, family A, member 2
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    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]  ENSG00000034053 [Sequence]  chr15:28921637-29118313 [Contig_View]  APBA2 [Vega]
ICGC DataPortalENSG00000034053
TCGA cBioPortalAPBA2
AceView (NCBI)APBA2
Genatlas (Paris)APBA2
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)
GoldenPathAPBA2 - 15q13.1 [CytoView hg19]  APBA2 - 15q13.1 [CytoView hg38]
ImmunoBaseENSG00000034053
Genome Data Viewer NCBIAPBA2 [Mapview hg19]  
OMIM602712   
Gene and transcription
Genbank (Entrez)AA861797 AB014719 AB209281 AF029108 AF047348
RefSeq transcript (Entrez)NM_001130414 NM_001353788 NM_001353789 NM_001353790 NM_001353791 NM_001353792 NM_001353793 NM_001353794 NM_001353795 NM_001353796 NM_001353797 NM_001379685 NM_005503
Consensus coding sequences : CCDS (NCBI)APBA2
Gene ExpressionAPBA2 [ NCBI-GEO ]   APBA2 [ EBI - ARRAY_EXPRESS ]   APBA2 [ SEEK ]   APBA2 [ MEM ]
Gene Expression Viewer (FireBrowse)APBA2 [ Firebrowse - Broad ]
GenevisibleExpression of APBA2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)321
GTEX Portal (Tissue expression)APBA2
Human Protein AtlasENSG00000034053-APBA2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ99767
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    PID (PS01179)   
Domains : Interpro (EBI)Apba2    PDZ    PDZ_sf    PH-like_dom_sf    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
SuperfamilyQ99767
AlphaFold pdb e-kbQ99767   
Human Protein Atlas [tissue]ENSG00000034053-APBA2 [tissue]
HPRD04090
Protein Interaction databases
DIP (DOE-UCLA)Q99767
IntAct (EBI)Q99767
BioGRIDAPBA2
STRING (EMBL)APBA2
ZODIACAPBA2
Ontologies - Pathways
QuickGOQ99767
Ontology : AmiGOamyloid-beta binding  protein binding  cytoplasm  plasma membrane  chemical synaptic transmission  nervous system development  synaptic vesicle  protein transport  identical protein binding  dendritic spine  
Ontology : EGO-EBIamyloid-beta binding  protein binding  cytoplasm  plasma membrane  chemical synaptic transmission  nervous system development  synaptic vesicle  protein transport  identical protein binding  dendritic spine  
NDEx NetworkAPBA2
Atlas of Cancer Signalling NetworkAPBA2
Wikipedia pathwaysAPBA2
Orthology - Evolution
OrthoDB321
GeneTree (enSembl)ENSG00000034053
Phylogenetic Trees/Animal Genes : TreeFamAPBA2
Homologs : HomoloGeneAPBA2
Homology/Alignments : Family Browser (UCSC)APBA2
Gene fusions - Rearrangements
Fusion : MitelmanAPBA2::GABRB3 [15q13.1/15q12]  
Fusion : QuiverAPBA2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPBA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APBA2
dbVarAPBA2
ClinVarAPBA2
MonarchAPBA2
1000_GenomesAPBA2 
Exome Variant ServerAPBA2
GNOMAD BrowserENSG00000034053
Varsome BrowserAPBA2
ACMGAPBA2 variants
VarityQ99767
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]  
Somatic Mutations in Cancer : COSMIC3DAPBA2
Mutations and Diseases : HGMDAPBA2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAPBA2
DgiDB (Drug Gene Interaction Database)APBA2
DoCM (Curated mutations)APBA2
CIViC (Clinical Interpretations of Variants in Cancer)APBA2
Cancer3DAPBA2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602712   
Orphanet
DisGeNETAPBA2
MedgenAPBA2
Genetic Testing Registry APBA2
NextProtQ99767 [Medical]
GENETestsAPBA2
Target ValidationAPBA2
Huge Navigator APBA2 [HugePedia]
ClinGenAPBA2
Clinical trials, drugs, therapy
MyCancerGenomeAPBA2
Protein Interactions : CTDAPBA2
Pharm GKB GenePA24870
PharosQ99767
Clinical trialAPBA2
Miscellaneous
canSAR (ICR)APBA2
HarmonizomeAPBA2
ARCHS4APBA2
DataMed IndexAPBA2
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAPBA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:22:42 CET 2022

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