APPBP2 Gene (Protein Coding)

Amyloid Beta Precursor Protein Binding Protein 2

GC17M060443
GIFtS:
37
The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating... See more...

Aliases for APPBP2 Gene

Aliases for APPBP2 Gene

  • Amyloid Beta Precursor Protein Binding Protein 2 2 3 5
  • Protein Interacting With APP Tail 1 2 3 4
  • PAT1 2 3 4
  • Amyloid Beta Precursor Protein (Cytoplasmic Tail) Binding Protein 2 2 3
  • Amyloid Protein-Binding Protein 2 3 4
  • KIAA0228 2 4
  • APP-BP2 3 4
  • Amyloid Beta Precursor Protein (Cytoplasmic Tail)-Binding Protein 2 2
  • Amyloid Beta Precursor Protein-Binding Protein 2 4
  • HS.84084 3
  • Hs.84084 2
  • APPBP2 5

External Ids for APPBP2 Gene

Previous GeneCards Identifiers for APPBP2 Gene

  • GC17M058257
  • GC17M060971
  • GC17M058862
  • GC17M058994
  • GC17M055875
  • GC17M058520
  • GC17M053891

Summaries for APPBP2 Gene

Entrez Gene Summary for APPBP2 Gene

  • The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for APPBP2 Gene

APPBP2 (Amyloid Beta Precursor Protein Binding Protein 2) is a Protein Coding gene. Diseases associated with APPBP2 include Noonan Syndrome 10 and Breast Cancer. Among its related pathways are Regulation of Androgen receptor activity. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is KLC2.

UniProtKB/Swiss-Prot Summary for APPBP2 Gene

  • May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface.

Gene Wiki entry for APPBP2 Gene

Additional gene information for APPBP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APPBP2 Gene

Genomics for APPBP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for APPBP2 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 APPBP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APPBP2

Top Transcription factor binding sites by QIAGEN in the APPBP2 gene promoter:
  • ATF6
  • CUTL1
  • GATA-1
  • HTF
  • MRF-2
  • POU2F1
  • POU2F1a
  • RORalpha2
  • SEF-1 (1)

Genomic Locations for APPBP2 Gene

Genomic Locations for APPBP2 Gene
chr17:60,443,149-60,526,242
(GRCh38/hg38)
Size:
83,094 bases
Orientation:
Minus strand
chr17:58,520,520-58,603,580
(GRCh37/hg19)
Size:
83,061 bases
Orientation:
Minus strand

Genomic View for APPBP2 Gene

Genes around APPBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APPBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APPBP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for APPBP2 Gene

Proteins for APPBP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for APPBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92624-APBP2_HUMAN
    Recommended name:
    Amyloid protein-binding protein 2
    Protein Accession:
    Q92624
    Secondary Accessions:
    • A8K862
    • O95095
    • Q8WVC9

    Protein attributes for APPBP2 Gene

    Size:
    585 amino acids
    Molecular mass:
    66853 Da
    Quaternary structure:
    • Binds APP.
    SequenceCaution:
    • Sequence=BAA13217.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for APPBP2 Gene

Protein Expression for APPBP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for APPBP2 Gene

  • Rapidly degraded by the proteasome upon overexpression of a C-terminal fragment of APP.
  • Ubiquitination at Lys379, Lys430, and Lys522
  • Modification sites at PhosphoSitePlus

Other Protein References for APPBP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for APPBP2

No data available for DME Specific Peptides for APPBP2 Gene

Domains & Families for APPBP2 Gene

Gene Families for APPBP2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for APPBP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APPBP2 Gene

GenScript: Design optimal peptide antigens:
  • Protein interacting with APP tail 1 (APBP2_HUMAN)
genes like me logo Genes that share domains with APPBP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for APPBP2 Gene

Function for APPBP2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for APPBP2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface.
GENATLAS Biochemistry:
amyloid beta precursor protein binding protein 2, cytoplasmic,also associating with membranes cofractionating with APP vesicle,interacting with microtubule,binding the basolateral sorting signal in the cytoplasmic tail of APP

Phenotypes From GWAS Catalog for APPBP2 Gene

Gene Ontology (GO) - Molecular Function for APPBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003777 microtubule motor activity TAS 9843960
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with APPBP2: view
genes like me logo Genes that share phenotypes with APPBP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APPBP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for APPBP2 Gene

Localization for APPBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APPBP2 Gene

Nucleus. Cytoplasm, cytoskeleton. Membrane. Peripheral membrane protein. Note=Associated with membranes and microtubules.

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 APPBP2 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 3
plasma membrane 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APPBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 11742091
GO:0005737 cytoplasm TAS,NAS 11742091
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005875 microtubule associated complex TAS 9843960
genes like me logo Genes that share ontologies with APPBP2: view

Pathways & Interactions for APPBP2 Gene

PathCards logo

SuperPathways for APPBP2 Gene

genes like me logo Genes that share pathways with APPBP2: view

Pathways by source for APPBP2 Gene

1 BioSystems pathway for APPBP2 Gene

Gene Ontology (GO) - Biological Process for APPBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0015031 protein transport IEA --
GO:0046907 intracellular transport IDA 9843960
genes like me logo Genes that share ontologies with APPBP2: view

No data available for SIGNOR curated interactions for APPBP2 Gene

Drugs & Compounds for APPBP2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for APPBP2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for APPBP2 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 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 APPBP2

Alternative Splicing Database (ASD) splice patterns (SP) for APPBP2 Gene

No ASD Table

Relevant External Links for APPBP2 Gene

GeneLoc Exon Structure for
APPBP2

Expression for APPBP2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APPBP2 Gene

mRNA expression in normal human tissues for APPBP2 Gene
mRNA expression by BioGPS for APPBP2 GenemRNA expression by GTEx for APPBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APPBP2 Gene

This gene is overexpressed in Plasma (66.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APPBP2 Gene



Protein tissue co-expression partners for APPBP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APPBP2

SOURCE GeneReport for Unigene cluster for APPBP2 Gene:

Hs.84084

Evidence on tissue expression from TISSUES for APPBP2 Gene

  • Skin(4.3)
  • Bone marrow(4.1)
  • Nervous system(3.7)
genes like me logo Genes that share expression patterns with APPBP2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for APPBP2 Gene

Orthologs for APPBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for APPBP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia APPBP2 30 31
  • 99.94 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia APPBP2 31
  • 97 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia APPBP2 31
  • 97 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia APPBP2 30 31
  • 95.78 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia APPBP2 30 31
  • 95.73 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Appbp2 30 17 31
  • 91.28 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Appbp2 30
  • 90.2 (n)
Chicken
(Gallus gallus)
 Aves APPBP2 30 31
  • 84.65 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia APPBP2 31
  • 92 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia appbp2 30
  • 79.2 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23796 30
Zebrafish
(Danio rerio)
 Actinopterygii appbp2 30 31
  • 77.2 (n)
 OneToOne
wufb78e11 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Pat1 30 31
  • 52.06 (n)
 OneToOne
CG10695 32
  • 47 (a)
Species where no ortholog for APPBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for APPBP2 Gene

ENSEMBL:
Gene Tree for APPBP2 (if available)
TreeFam:
Gene Tree for APPBP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APPBP2: view image

Paralogs for APPBP2 Gene

Paralogs for APPBP2 Gene

genes like me logo Genes that share paralogs with APPBP2: view

Variants for APPBP2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APPBP2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs34146848 - p.Ser561Asn

Additional dbSNP identifiers (rs#s) for APPBP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for APPBP2 Gene

Variant ID Type Subtype PubMed ID
dgv3273n100 CNV gain 25217958
esv1010187 CNV insertion 20482838
esv2671823 CNV deletion 23128226
esv2677176 CNV deletion 23128226
esv29677 CNV loss 19812545
esv3640926 CNV gain 21293372
esv3640927 CNV loss 21293372
nsv1116229 CNV deletion 24896259
nsv474695 CNV novel sequence insertion 20440878
nsv575827 CNV loss 21841781
nsv828080 CNV loss 20364138

Variation tolerance for APPBP2 Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.50; 77.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APPBP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APPBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APPBP2 Gene

Disorders for APPBP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for APPBP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
noonan syndrome 10
  • ns10
breast cancer
  • breast lobular carcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for APPBP2

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with APPBP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APPBP2 Gene

Publications for APPBP2 Gene

  1. PAT1, a microtubule-interacting protein, recognizes the basolateral sorting signal of amyloid precursor protein. (PMID: 9843960) Zheng P … Pimplikar SW (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 23
  2. 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
  3. The gamma -secretase-cleaved C-terminal fragment of amyloid precursor protein mediates signaling to the nucleus. (PMID: 11742091) Gao Y … Pimplikar SW (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4
  4. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for APPBP2 gene in Mastermind

Products for APPBP2 Gene

  • Signalway ELISA kits for APPBP2
  • Signalway Proteins for APPBP2

Sources for APPBP2 Gene