The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding severa... See more...

Aliases for APBB3 Gene

Aliases for APBB3 Gene

  • Amyloid Beta Precursor Protein Binding Family B Member 3 2 3 5
  • FE65L2 2 3 4
  • Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member 3 2 3
  • Amyloid-Beta A4 Precursor Protein-Binding Family B Member 3 3 4
  • Protein Fe65-Like 2 3 4
  • Amyloid Precursor Interacting Protein 3
  • FE65-Like Protein 2 3
  • Fe65L2 4
  • APBB3 5
  • SRA 3

External Ids for APBB3 Gene

Previous GeneCards Identifiers for APBB3 Gene

  • GC05M140520
  • GC05M139913
  • GC05M139959
  • GC05M139960
  • GC05M139910
  • GC05M139918
  • GC05M135084
  • GC05M139937

Summaries for APBB3 Gene

Entrez Gene Summary for APBB3 Gene

  • The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for APBB3 Gene

APBB3 (Amyloid Beta Precursor Protein Binding Family B Member 3) is a Protein Coding gene. Diseases associated with APBB3 include Cervical Cancer and 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 APBB2.

UniProtKB/Swiss-Prot Summary for APBB3 Gene

Gene Wiki entry for APBB3 Gene

Additional gene information for APBB3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APBB3 Gene

Genomics for APBB3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APBB3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APBB3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APBB3

Top Transcription factor binding sites by QIAGEN in the APBB3 gene promoter:
  • CREB
  • deltaCREB
  • NRSF form 1
  • NRSF form 2
  • p53
  • TBP
  • TFIID

Genomic Locations for APBB3 Gene

Genomic Locations for APBB3 Gene
chr5:140,558,268-140,564,781
(GRCh38/hg38)
Size:
6,514 bases
Orientation:
Minus strand
chr5:139,937,853-139,973,337
(GRCh37/hg19)
Size:
35,485 bases
Orientation:
Minus strand

Genomic View for APBB3 Gene

Genes around APBB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APBB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APBB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APBB3 Gene

Proteins for APBB3 Gene

  • Protein details for APBB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95704-APBB3_HUMAN
    Recommended name:
    Amyloid-beta A4 precursor protein-binding family B member 3
    Protein Accession:
    O95704
    Secondary Accessions:
    • B3KQN9
    • Q08AG4
    • Q96Q18
    • Q9BYD4
    • Q9NYX6
    • Q9NYX7
    • Q9NYX8

    Protein attributes for APBB3 Gene

    Size:
    486 amino acids
    Molecular mass:
    52585 Da
    Quaternary structure:
    • Binds to the intracellular domain of the amyloid-beta precursor protein. Also binds to APP-like proteins.
    Miscellaneous:
    • [Isoform I-214]: Increased expression upon apoptotic stimuli.

    Three dimensional structures from OCA and Proteopedia for APBB3 Gene

    Alternative splice isoforms for APBB3 Gene

neXtProt entry for APBB3 Gene

Post-translational modifications for APBB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for APBB3 Gene

Domains & Families for APBB3 Gene

Gene Families for APBB3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for APBB3 Gene

InterPro:
Blocks:
  • Phosphotyrosine interaction domain
ProtoNet:

Suggested Antigen Peptide Sequences for APBB3 Gene

GenScript: Design optimal peptide antigens:
  • Protein Fe65-like 2 (APBB3_HUMAN)
  • cDNA FLJ90404 fis, clone NT2RP2006092, highly similar to Amyloid beta A4 protein-binding family B member 3 (Fe65-like protein 2) (Fe65L2) (B3KQG2_HUMAN)
  • Fe65L2 isoform 339 (Q86Z13_HUMAN)
  • Amyloid beta (A4) protein-binding, family B, member 3 (Q96DX9_HUMAN)
genes like me logo Genes that share domains with APBB3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for APBB3 Gene

Function for APBB3 Gene

Molecular function for APBB3 Gene

UniProtKB/Swiss-Prot Function:
May modulate the internalization of amyloid-beta precursor protein.
GENATLAS Biochemistry:
amyloid beta (A4) precursor protein binding B3,murine homolog,FE65 like gene,interacting with Alzheimer's beta amyloid precursor protein

Phenotypes From GWAS Catalog for APBB3 Gene

Gene Ontology (GO) - Molecular Function for APBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IEA,IBA 21873635
GO:0005515 protein binding IEA,IPI 10081969
GO:0008134 transcription factor binding IBA 21873635
genes like me logo Genes that share ontologies with APBB3: view
genes like me logo Genes that share phenotypes with APBB3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBB3

Clone Products

  • Addgene plasmids for APBB3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for APBB3 Gene

Localization for APBB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APBB3 Gene

Cytoplasm. Nucleus.
[Isoform I-214]: Nucleus.
[Isoform I-245]: Nucleus.

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 APBB3 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005829 cytosol IDA --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with APBB3: view

Pathways & Interactions for APBB3 Gene

PathCards logo

SuperPathways for APBB3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for APBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
genes like me logo Genes that share ontologies with APBB3: view

No data available for Pathways by source and SIGNOR curated interactions for APBB3 Gene

Drugs & Compounds for APBB3 Gene

No Compound Related Data Available

Transcripts for APBB3 Gene

mRNA/cDNA for APBB3 Gene

6 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBB3

Clone Products

  • Addgene plasmids for APBB3

Alternative Splicing Database (ASD) splice patterns (SP) for APBB3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - -
SP6: - - - - - - -
SP7:
SP8: - - - - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - -
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:

ExUns: 12b ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8:
SP9:
SP10:
SP11: -
SP12: -
SP13: -
SP14: - -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: -

Relevant External Links for APBB3 Gene

GeneLoc Exon Structure for
APBB3

Expression for APBB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APBB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APBB3 Gene

This gene is overexpressed in Liver, secretome (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APBB3 Gene



Protein tissue co-expression partners for APBB3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APBB3

SOURCE GeneReport for Unigene cluster for APBB3 Gene:

Hs.529449

mRNA Expression by UniProt/SwissProt for APBB3 Gene:

O95704-APBB3_HUMAN
Tissue specificity: Expressed in various tissues, highest expression in brain.

Evidence on tissue expression from TISSUES for APBB3 Gene

  • Nervous system(4.9)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with APBB3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for APBB3 Gene

Orthologs for APBB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for APBB3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APBB3 30 31
  • 99.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia APBB3 30 31
  • 92.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia APBB3 30 31
  • 92.22 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Apbb3 30 17 31
  • 88.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Apbb3 30
  • 87.59 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia APBB3 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia APBB3 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves APBB3 30 31
  • 63.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia APBB3 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia apbb3 30
  • 60.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101883158 30
  • 62.02 (n)
APBB3 31
  • 51 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea feh-1 31
  • 17 (a)
OneToMany
Species where no ortholog for APBB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 APBB3 Gene

ENSEMBL:
Gene Tree for APBB3 (if available)
TreeFam:
Gene Tree for APBB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APBB3: view image

Paralogs for APBB3 Gene

Paralogs for APBB3 Gene

(4) SIMAP similar genes for APBB3 Gene using alignment to 8 proteins:

  • APBB3_HUMAN
  • B3KQG2_HUMAN
  • D6RBA1_HUMAN
  • D6RJB2_HUMAN
  • E7EX91_HUMAN
  • F5H1N5_HUMAN
  • Q86Z13_HUMAN
  • Q96DX9_HUMAN
genes like me logo Genes that share paralogs with APBB3: view

Variants for APBB3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APBB3 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs250430 - p.Cys231Arg
rs7715021 - p.Gly165Arg

Additional dbSNP identifiers (rs#s) for APBB3 Gene

Structural Variations from Database of Genomic Variants (DGV) for APBB3 Gene

Variant ID Type Subtype PubMed ID
nsv462462 CNV loss 19166990
nsv599825 CNV loss 21841781

Variation tolerance for APBB3 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.07; 60.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APBB3 Gene

Human Gene Mutation Database (HGMD)
APBB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APBB3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APBB3 Gene

Disorders for APBB3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for APBB3 Gene - From: LncRNADisease, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cervical cancer
  • cervical cancer, somatic
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search APBB3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APBB3

genes like me logo Genes that share disorders with APBB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APBB3 Gene

Publications for APBB3 Gene

  1. Characterization of an amyloid precursor protein-binding protein Fe65L2 and its novel isoforms lacking phosphotyrosine-interaction domains. (PMID: 12153398) Tanahashi H … Tabira T (The Biochemical journal 2002) 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. Genome structure and chromosomal mapping of the gene for Fe65L2 interacting with Alzheimer's beta-amyloid precursor protein. (PMID: 10329396) Tanahashi H … Tabira T (Biochemical and biophysical research communications 1999) 3 4
  5. Molecular cloning of human Fe65L2 and its interaction with the Alzheimer's beta-amyloid precursor protein. (PMID: 10081969) Tanahashi H … Tabira T (Neuroscience letters 1999) 3 4

Products for APBB3 Gene

  • Signalway ELISA kits for APBB3

Sources for APBB3 Gene