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Aliases for APBB3 Gene

Aliases for APBB3 Gene

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

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

Gene Wiki entry for APBB3 Gene

Additional gene information for APBB3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APBB3 Gene

Genomics for APBB3 Gene

GeneHancer (GH) Regulatory Elements for APBB3 Gene

Promoters and enhancers for APBB3 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
GH05J140563 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.1 -145 3.1 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A YBX1 ZNF2 YY1 POLR2B SLC35A4 MIR6831 APBB3 ANKHD1 CD14 WDR55 DND1 ENSG00000200051 ANKHD1-EIF4EBP3 ENSG00000253965
GH05J140593 Promoter 0.6 EPDnew 650.3 -29.0 -28991 0.1 MLLT1 ENSG00000283155 ENSG00000283602 APBB3 CD14
GH05J139633 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 41.3 +911.4 911415 40.3 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 CXXC5 ANKHD1 APBB3 IK TMCO6 TMEM173 LOC101929719 PSD2 DNAJC18 LOC105379194
GH05J140609 Enhancer 1.5 FANTOM5 Ensembl ENCODE 36.7 -46.1 -46119 3.8 PKNOX1 ATF1 FOXA2 ARNT ZNF280A TCF12 ZNF766 CBX5 GATA2 E2F8 RPL36P11 CD14 APBB3 TMCO6 SLC35A4 IK EIF4EBP3 ANKHD1 NDUFA2 SRA1
GH05J139705 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.6 +855.7 855721 6.7 HDGF CLOCK SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 PSD2 HARS2 ANKHD1 APBB3 TMCO6 WDR55 CXXC5 TMEM173 DNAJC18 MATR3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APBB3 on UCSC Golden Path with GeneCards custom track

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

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.

    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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for APBB3 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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 Alzheimers 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 IBA --
GO:0005515 protein binding IEA,IPI 10081969
GO:0008134 transcription factor binding IBA --
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

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
cytoskeleton 5
nucleus 5
cytosol 5

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 --
GO:0005737 cytoplasm IBA,TAS --
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

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 --
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

Unigene Clusters for APBB3 Gene

Amyloid beta (A4) precursor protein-binding, family B, member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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
ECgene alternative splicing isoforms for
APBB3

Expression for APBB3 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of APBB3 Gene:

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)
genes like me logo Genes that share expression patterns with APBB3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 33
  • 99.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APBB3 34 33
  • 92.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APBB3 34 33
  • 92.22 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Apbb3 16 34 33
  • 88.04 (n)
rat
(Rattus norvegicus)
Mammalia Apbb3 33
  • 87.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia APBB3 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APBB3 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves APBB3 34 33
  • 63.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APBB3 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apbb3 33
  • 60.56 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101883158 33
  • 62.02 (n)
APBB3 34
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea feh-1 34
  • 17 (a)
OneToMany
Species where no ortholog for APBB3 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 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 from dbSNP and Humsavar for APBB3 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000183069 -- 140,565,698(-) T/C upstream_transcript_variant
rs1000786513 -- 140,564,451(-) T/C 5_prime_UTR_variant
rs1000935895 -- 140,558,375(-) G/A 3_prime_UTR_variant
rs1001071782 -- 140,564,687(-) C/T upstream_transcript_variant
rs1002250498 -- 140,558,440(-) T/G 3_prime_UTR_variant

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 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  4. 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 58
  5. 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 58

Products for APBB3 Gene

Sources for APBB3 Gene

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