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Aliases for APBB2 Gene

Aliases for APBB2 Gene

  • Amyloid Beta Precursor Protein Binding Family B Member 2 2 3
  • Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member 2 2 5
  • Protein Fe65-Like 1 3 4
  • FE65L1 3 4
  • FE65L 3 4
  • Amyloid Beta 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. GO annotations related to this gene include transcription factor binding and beta-amyloid binding. An important paralog of this gene is APBB1.

UniProtKB/Swiss-Prot for APBB2 Gene

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

Gene Wiki entry for APBB2 Gene

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

Genomics for APBB2 Gene

Regulatory Elements for APBB2 Gene

Promoters for APBB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around APBB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for APBB2 Gene

Chromosome:
4
Start:
40,810,027 bp from pter
End:
41,216,714 bp from pter
Size:
406,688 bases
Orientation:
Minus strand

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 beta-amyloid 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

Proteomics data for APBB2 Gene at MOPED

Post-translational modifications for APBB2 Gene

  • Ubiquitination at Lys 159
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for APBB2 Gene

Domains & Families for APBB2 Gene

Protein Domains for APBB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q92870

UniProtKB/Swiss-Prot:

APBB2_HUMAN :
  • Contains 2 PID domains.
Domain:
  • Contains 2 PID domains.
  • Contains 1 WW domain.
genes like me logo Genes that share domains with APBB2: view

No data available for Gene Families 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 beta-amyloid precursor protein.
genes like me logo Genes that share phenotypes with APBB2: view

Animal Models for APBB2 Gene

MGI Knock Outs for APBB2:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for APBB2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APBB2 Gene COMPARTMENTS Subcellular localization image for APBB2 gene
Compartment Confidence
nucleus 4
mitochondrion 3
cytosol 2

Gene Ontology (GO) - Cellular Components for APBB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0030027 lamellipodium ISS --
GO:0045202 synapse 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 --
GO:0007411 axon guidance IEA --
GO:0030198 extracellular matrix organization IEA --
GO:0035556 intracellular signal transduction NAS 8855266
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:

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 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, MOPED, and MaxQB for APBB2 Gene



SOURCE GeneReport for Unigene cluster for APBB2 Gene Hs.479602

genes like me logo Genes that share expression patterns with APBB2: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 35
  • 99.43 (n)
  • 99.87 (a)
APBB2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APBB2 36
  • 94 (a)
OneToOne
APBB2 35
  • 91.05 (n)
  • 94.44 (a)
dog
(Canis familiaris)
Mammalia APBB2 35
  • 91.79 (n)
  • 94.6 (a)
APBB2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apbb2 35
  • 89.23 (n)
  • 94.2 (a)
Apbb2 16
Apbb2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APBB2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APBB2 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apbb2 35
  • 89.13 (n)
  • 94.23 (a)
chicken
(Gallus gallus)
Aves APBB2 35
  • 82.14 (n)
  • 90.45 (a)
APBB2 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 87 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia apbb2 35
  • 74.63 (n)
  • 82.6 (a)
zebrafish
(Danio rerio)
Actinopterygii apbb2b 36
  • 57 (a)
ManyToMany
CABZ01113978.1 36
  • 37 (a)
ManyToMany
apbb2b 35
  • 71.52 (n)
  • 77.76 (a)
worm
(Caenorhabditis elegans)
Secernentea feh-1 36
  • 25 (a)
OneToMany
Species with no ortholog for APBB2:
  • 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 Sequence Context AA Info Type
rs4861358 - 41,013,882(+) TGCCT(C/T)GGTTC reference, missense
rs715123 -- 41,186,730(+) AAAAA(A/G)TGCAT intron-variant
rs719379 -- 40,840,884(+) ACTAG(C/T)GAACA intron-variant
rs872179 -- 40,992,681(+) AACGC(G/T)GGAAG intron-variant
rs873871 -- 40,854,049(+) TTATC(C/T)GCCGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829912 CNV Loss 17160897
nsv10486 CNV Gain 18304495
nsv4307 CNV Loss 18451855
nsv461346 CNV Loss 19166990
nsv519604 CNV Loss 19592680
nsv822543 CNV Gain 20364138
esv268400 CNV Insertion 20981092
esv2656657 CNV Deletion 23128226
esv8005 OTHER Inversion 19470904
esv268140 CNV Insertion 20981092
nsv291290 CNV Insertion 16902084
nsv4308 CNV Insertion 18451855
nsv524448 CNV Loss 19592680
esv2727480 CNV Deletion 23290073
esv1766752 CNV Deletion 17803354
esv273602 CNV Insertion 20981092
esv268738 CNV Insertion 20981092
nsv292366 CNV Insertion 16902084
nsv819386 CNV Gain 19587683
nsv829913 CNV Gain 17160897
esv2727481 CNV Deletion 23290073
nsv291112 CNV Loss 16902084
nsv829914 CNV Loss 17160897
nsv293565 CNV Insertion 16902084

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)

Relevant External Links for APBB2 Gene

HapMap Linkage Disequilibrium report
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: OMIM, DISEASES, Novoseek, and GeneCards

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

Relevant External Links for APBB2

Genetic Association Database (GAD)
APBB2
Human Genome Epidemiology (HuGE) Navigator
APBB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APBB2
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 P.P. (Neurosci. Lett. 2008) 3 23 48 67
  2. 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 D.M. (Mamm. Genome 1998) 2 3 23
  3. Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease. (PMID: 15714520) Li Y. … Grupe A. (Hum. Mutat. 2005) 3 23
  4. Generation of the beta-amyloid peptide and the amyloid precursor protein C-terminal fragment gamma are potentiated by FE65L1. (PMID: 14527950) Chang Y. … GuAcnette S.Y. (J. Biol. Chem. 2003) 3 23
  5. The intracellular cytoplasmic domain of the Alzheimer's disease amyloid precursor protein interacts with phosphotyrosine-binding domain proteins in the yeast two-hybrid system. (PMID: 8955346) McLoughlin D.M. … Miller C.C. (FEBS Lett. 1996) 2 3

Products for APBB2 Gene

Sources for APBB2 Gene

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