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Aliases for APBB2 Gene

Aliases for APBB2 Gene

  • Amyloid Beta Precursor Protein Binding Family B Member 2 2 3 5
  • Protein Fe65-Like 1 3 4
  • FE65L1 3 4
  • FE65L 3 4
  • Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member 2 2
  • Amyloid Beta A4 Precursor Protein-Binding Family B Member 2 3
  • Amyloid-Beta A4 Precursor Protein-Binding Family B Member 2 3
  • Fe65-Like 1 3
  • Fe65-Like 2

External Ids for APBB2 Gene

Previous GeneCards Identifiers for APBB2 Gene

  • GC04M040883
  • GC04M041100
  • GC04M040666
  • GC04M040732
  • GC04M040657
  • GC04M040510
  • GC04M040134

Summaries for APBB2 Gene

Entrez Gene Summary for APBB2 Gene

  • The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for APBB2 Gene

APBB2 (Amyloid Beta Precursor Protein Binding Family B Member 2) is a Protein Coding gene. Diseases associated with APBB2 include Alzheimer Disease. Gene Ontology (GO) annotations related to this gene include transcription factor binding and amyloid-beta binding. An important paralog of this gene is APBB1.

UniProtKB/Swiss-Prot for APBB2 Gene

  • May modulate the internalization of amyloid-beta precursor protein.

Gene Wiki entry for APBB2 Gene

Additional gene information for APBB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APBB2 Gene

Genomics for APBB2 Gene

GeneHancer (GH) Regulatory Elements for APBB2 Gene

Promoters and enhancers for APBB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I041211 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 560.3 +2.0 1971 6.3 PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 APBB2 ATP1B1P1 UCHL1 UCHL1-AS1 ENSG00000250906 SLC30A9 RNU6-1195P
GH04I040856 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.1 +359.5 359467 0.9 PKNOX1 INSM2 KLF17 SIN3A NFXL1 ZNF2 ZNF335 GLIS2 ZNF213 ZNF143 PIR61184 APBB2 GC04M040906
GH04I040989 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17 +224.1 224148 5.9 HDGF FEZF1 BATF ZNF2 IRF4 ZNF366 ATF7 ETV6 FOS BCLAF1 APBB2 UCHL1 UCHL1-AS1 RBM47 RNA5SP160 GC04M041050
GH04I040907 Enhancer 1.2 FANTOM5 Ensembl ENCODE 18.2 +307.2 307157 3.7 CTCF MXI1 RB1 JUN MAX RAD21 POLR2A NFATC1 SMC3 ZNF143 APBB2 RBM47 GC04M040906 RNA5SP160
GH04I041118 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.1 +96.3 96346 3 PKNOX1 NFIB FEZF1 YY1 ZNF335 ZNF366 RXRA ZBTB11 USF2 TSHZ1 APBB2 RNU6-836P RNU6-1195P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APBB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APBB2 gene promoter:

Genomic Locations for APBB2 Gene

Genomic Locations for APBB2 Gene
chr4:40,810,027-41,216,714
(GRCh38/hg38)
Size:
406,688 bases
Orientation:
Minus strand
chr4:40,812,044-41,218,731
(GRCh37/hg19)

Genomic View for APBB2 Gene

Genes around APBB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APBB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APBB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APBB2 Gene

Proteins for APBB2 Gene

  • Protein details for APBB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92870-APBB2_HUMAN
    Recommended name:
    Amyloid-beta A4 precursor protein-binding family B member 2
    Protein Accession:
    Q92870
    Secondary Accessions:
    • B4DSL4
    • E9PG87
    • Q8IUI6

    Protein attributes for APBB2 Gene

    Size:
    758 amino acids
    Molecular mass:
    83374 Da
    Quaternary structure:
    • Binds to the intracellular domain of the amyloid-beta precursor protein.
    SequenceCaution:
    • Sequence=AAC50805.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for APBB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APBB2 Gene

Post-translational modifications for APBB2 Gene

No data available for DME Specific Peptides for APBB2 Gene

Domains & Families for APBB2 Gene

Gene Families for APBB2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for APBB2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with APBB2: view

No data available for UniProtKB/Swiss-Prot for APBB2 Gene

Function for APBB2 Gene

Molecular function for APBB2 Gene

GENATLAS Biochemistry:
amyloid beta (A4) precursor binding protein B2,murine homolog of Fe65 like gene
UniProtKB/Swiss-Prot Function:
May modulate the internalization of amyloid-beta precursor protein.

Phenotypes From GWAS Catalog for APBB2 Gene

Gene Ontology (GO) - Molecular Function for APBB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding ISS --
GO:0005515 protein binding IPI 8855266
GO:0008134 transcription factor binding ISS --
genes like me logo Genes that share ontologies with APBB2: view
genes like me logo Genes that share phenotypes with APBB2: view

Animal Models for APBB2 Gene

MGI Knock Outs for APBB2:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for APBB2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APBB2 Gene

Localization for APBB2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APBB2 gene
Compartment Confidence
nucleus 4
mitochondrion 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for APBB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IBA --
GO:0005737 cytoplasm IBA --
GO:0016020 membrane NAS 8855266
GO:0030027 lamellipodium ISS --
GO:0030426 growth cone ISS --
genes like me logo Genes that share ontologies with APBB2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for APBB2 Gene

Pathways & Interactions for APBB2 Gene

SuperPathways for APBB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for APBB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006355 regulation of transcription, DNA-templated ISS,IBA --
GO:0007050 cell cycle arrest ISS --
GO:0007411 axon guidance IEA --
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with APBB2: view

No data available for Pathways by source and SIGNOR curated interactions for APBB2 Gene

Drugs & Compounds for APBB2 Gene

No Compound Related Data Available

Transcripts for APBB2 Gene

Unigene Clusters for APBB2 Gene

Amyloid beta (A4) precursor protein-binding, family B, member 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for APBB2

Alternative Splicing Database (ASD) splice patterns (SP) for APBB2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - -
SP2: - -
SP3: -
SP4: - -
SP5: -
SP6: - -
SP7:
SP8:

ExUns: 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for APBB2 Gene

GeneLoc Exon Structure for
APBB2
ECgene alternative splicing isoforms for
APBB2

Expression for APBB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APBB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APBB2 Gene

This gene is overexpressed in Adrenal (39.1) and Gallbladder (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APBB2 Gene



NURSA nuclear receptor signaling pathways regulating expression of APBB2 Gene:

APBB2

SOURCE GeneReport for Unigene cluster for APBB2 Gene:

Hs.479602

Evidence on tissue expression from TISSUES for APBB2 Gene

  • Nervous system(4.9)
  • Lung(4.3)
  • Kidney(4.2)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with APBB2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for APBB2 Gene

Orthologs for APBB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for APBB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APBB2 33 34
  • 99.43 (n)
oppossum
(Monodelphis domestica)
Mammalia APBB2 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APBB2 33 34
  • 91.79 (n)
cow
(Bos Taurus)
Mammalia APBB2 33 34
  • 91.05 (n)
mouse
(Mus musculus)
Mammalia Apbb2 33 16 34
  • 89.23 (n)
rat
(Rattus norvegicus)
Mammalia Apbb2 33
  • 89.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia APBB2 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves APBB2 33 34
  • 82.14 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 92 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia apbb2 33
  • 74.63 (n)
zebrafish
(Danio rerio)
Actinopterygii apbb2b 33 34
  • 71.52 (n)
CABZ01113978.1 34
  • 37 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea feh-1 34
  • 25 (a)
OneToMany
Species where no ortholog for APBB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for APBB2 Gene

ENSEMBL:
Gene Tree for APBB2 (if available)
TreeFam:
Gene Tree for APBB2 (if available)

Paralogs for APBB2 Gene

Paralogs for APBB2 Gene

genes like me logo Genes that share paralogs with APBB2: view

Variants for APBB2 Gene

Sequence variations from dbSNP and Humsavar for APBB2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10000108 -- 40,908,479(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000032436 -- 40,862,668(-) G/C genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000045187 -- 41,166,349(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000049343 -- 41,117,933(-) G/A genic_upstream_transcript_variant, intron_variant
rs10000647 -- 41,092,112(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for APBB2 Gene

Variant ID Type Subtype PubMed ID
nsv999749 CNV gain 25217958
nsv829914 CNV loss 17160897
nsv829913 CNV gain 17160897
nsv829912 CNV loss 17160897
nsv822543 CNV gain 20364138
nsv819386 CNV gain 19587683
nsv594055 CNV loss 21841781
nsv524448 CNV loss 19592680
nsv519604 CNV loss 19592680
nsv461346 CNV loss 19166990
nsv4308 CNV insertion 18451855
nsv4307 CNV deletion 18451855
nsv293565 CNV insertion 16902084
nsv292366 CNV insertion 16902084
nsv291290 CNV insertion 16902084
nsv291112 CNV deletion 16902084
nsv1139235 CNV deletion 24896259
nsv1128056 CNV deletion 24896259
nsv1076561 CNV duplication 25765185
nsv10486 CNV gain 18304495
esv8005 OTHER inversion 19470904
esv3600329 CNV loss 21293372
esv3600328 CNV gain 21293372
esv3600327 CNV loss 21293372
esv3600326 CNV loss 21293372
esv3600321 CNV loss 21293372
esv3600320 CNV gain 21293372
esv3600319 CNV loss 21293372
esv3569395 CNV loss 25503493
esv3563756 CNV deletion 23714750
esv3563753 CNV deletion 23714750
esv3425931 CNV insertion 20981092
esv3399840 CNV duplication 20981092
esv3376806 CNV insertion 20981092
esv3348981 CNV duplication 20981092
esv3304121 CNV mobile element insertion 20981092
esv3303861 CNV mobile element insertion 20981092
esv2727481 CNV deletion 23290073
esv2727480 CNV deletion 23290073
esv2656657 CNV deletion 23128226
esv1766752 CNV deletion 17803354
dgv1477e212 CNV gain 25503493

Variation tolerance for APBB2 Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.65; 45.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APBB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APBB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APBB2 Gene

Disorders for APBB2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for APBB2 Gene - From: GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search APBB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APBB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with APBB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APBB2 Gene

Publications for APBB2 Gene

  1. Analysis of APBB2 gene polymorphisms in sporadic Alzheimer's disease. (PMID: 18852029) Golanska E … Liberski PP (Neuroscience letters 2008) 3 22 44 58
  2. Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease. (PMID: 15714520) Li Y … Grupe A (Human mutation 2005) 3 22 44 58
  3. Mapping of the human and murine X11-like genes (APBA2 and apba2), the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2): genes encoding phosphotyrosine-binding domain proteins that interact with the Alzheimer's disease amyloid precursor protein. (PMID: 9585438) Blanco G … McLoughlin DM (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 2 3 22 58
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for APBB2 Gene

  • Addgene plasmids for APBB2

Sources for APBB2 Gene

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