This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at th... See more...

Aliases for APLP2 Gene

Aliases for APLP2 Gene

  • Amyloid Beta Precursor Like Protein 2 2 3 5
  • Amyloid Beta (A4) Precursor-Like Protein 2 2 3
  • CDEI Box-Binding Protein 3 4
  • Amyloid-Like Protein 2 3 4
  • APLP-2 3 4
  • APPL2 3 4
  • CDEBP 3 4
  • APPH 3 4
  • Amyloid Precursor Protein Homolog HSD-2 3
  • Testicular Tissue Protein Li 23 3
  • Amyloid Protein Homolog 4

External Ids for APLP2 Gene

Previous HGNC Symbols for APLP2 Gene

  • APPL2

Previous GeneCards Identifiers for APLP2 Gene

  • GC11P131940
  • GC11P131452
  • GC11P129973
  • GC11P129477
  • GC11P129445
  • GC11P129939
  • GC11P125891

Summaries for APLP2 Gene

Entrez Gene Summary for APLP2 Gene

  • This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

GeneCards Summary for APLP2 Gene

APLP2 (Amyloid Beta Precursor Like Protein 2) is a Protein Coding gene. Diseases associated with APLP2 include Alzheimer Disease. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include identical protein binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is APP.

UniProtKB/Swiss-Prot Summary for APLP2 Gene

  • May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts (By similarity).

Gene Wiki entry for APLP2 Gene

Additional gene information for APLP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APLP2 Gene

Genomics for APLP2 Gene

GeneHancer (GH) Regulatory Elements for APLP2 Gene

Promoters and enhancers for APLP2 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
GH11J130068 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 758.3 +2.6 2569 5 ZBTB40 SP1 CTCF ZBTB6 MLX SMARCE1 POLR2A NR2F6 CREB1 MIXL1 APLP2 NONHSAG010042.2 lnc-PRDM10-3 PRDM10 LINC00167 ST14 lnc-ST14-1
GH11J130066 Enhancer 0.5 Ensembl 750.6 -1.5 -1546 0.4 ZNF652 SP1 ZNF384 ZNF335 RAD21 RXRA HNF4A APLP2 piR-31162-084
GH11J129995 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -67.6 -67634 9 ZNF24 SP1 SIX5 ZBTB6 LCORL MLX RBPJ SMARCE1 POLR2A NR2F1 PRDM10 NFRKB APLP2 ELOBP2 ARHGAP32 LINC00167 piR-33735-018
GH11J130118 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +54.0 54020 16.7 FOXA1 LCORL RBPJ NR2F1 ATF1 NR2F6 CREB1 MIXL1 MYC ETV6 APLP2 PRDM10 ST14 LINC00167 NFRKB ENSG00000274197 piR-38378
GH11J130093 Enhancer 1.2 Ensembl ENCODE dbSUPER 19.6 +31.8 31754 15 ZBTB40 SMARCE1 CTBP1 HLF ZNF121 TEAD4 ZNF384 MAFK CBFA2T2 SP7 APLP2 LINC00167 PRDM10 ST14 HSALNG0088200 piR-36240-026
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APLP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APLP2 gene promoter:
  • CBF-A
  • CBF-B
  • CP1A
  • FOXC1
  • NF-Y
  • NF-YA
  • NF-YB
  • p53
  • Pax-4a
  • TBP

Genomic Locations for APLP2 Gene

Genomic Locations for APLP2 Gene
chr11:130,068,147-130,144,811
(GRCh38/hg38)
Size:
76,665 bases
Orientation:
Plus strand
chr11:129,939,716-130,014,706
(GRCh37/hg19)
Size:
74,991 bases
Orientation:
Plus strand

Genomic View for APLP2 Gene

Genes around APLP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APLP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APLP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APLP2 Gene

Proteins for APLP2 Gene

  • Protein details for APLP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06481-APLP2_HUMAN
    Recommended name:
    Amyloid-like protein 2
    Protein Accession:
    Q06481
    Secondary Accessions:
    • B3KXX9
    • H7BXI4
    • Q13861
    • Q14594
    • Q14662
    • Q71U10
    • Q7M4L3
    • Q9BT36

    Protein attributes for APLP2 Gene

    Size:
    763 amino acids
    Molecular mass:
    86956 Da
    Quaternary structure:
    • Interacts with CPEB1. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif (By similarity).
    SequenceCaution:
    • Sequence=BAG54641.1; Type=Frameshift; Positions=81; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for APLP2 Gene

    Alternative splice isoforms for APLP2 Gene

neXtProt entry for APLP2 Gene

Post-translational modifications for APLP2 Gene

  • The BPTI/Kunitz inhibitor domain is O-glycosylated.
  • Glycosylation at Thr380, Ser381, Asn541, Thr367, Thr371, and Thr658
  • Ubiquitination at Lys744 and Lys756
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • APLP2_HUMAN (1008)

Antibody Products

  • Abcam antibodies for APLP2
  • Boster Bio Antibodies for APLP2

No data available for DME Specific Peptides for APLP2 Gene

Domains & Families for APLP2 Gene

Gene Families for APLP2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for APLP2 Gene

GenScript: Design optimal peptide antigens:
  • CDEI box-binding protein (APLP2_HUMAN)
  • cDNA FLJ55088, highly similar to Amyloid-like protein 2 (Amyloidprotein homolog) (APPH) (CDEI box-binding protein)(CDEBP) (B4DKY3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q06481

UniProtKB/Swiss-Prot:

APLP2_HUMAN :
  • Belongs to the APP family.
Family:
  • Belongs to the APP family.
genes like me logo Genes that share domains with APLP2: view

Function for APLP2 Gene

Molecular function for APLP2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts (By similarity).
GENATLAS Biochemistry:
amyloid beta (A4) precursor protein-like 2

Phenotypes From GWAS Catalog for APLP2 Gene

Gene Ontology (GO) - Molecular Function for APLP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 7702756
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0005515 protein binding IPI 8855266
GO:0008201 heparin binding IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with APLP2: view
genes like me logo Genes that share phenotypes with APLP2: view

Animal Models for APLP2 Gene

MGI Knock Outs for APLP2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APLP2

Clone Products

  • Addgene plasmids for APLP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APLP2 Gene

Localization for APLP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APLP2 Gene

Cell membrane; Single-pass type I membrane protein. 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 APLP2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 4
extracellular 1
peroxisome 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for APLP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 7702756
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane NAS 8485127
genes like me logo Genes that share ontologies with APLP2: view

Pathways & Interactions for APLP2 Gene

genes like me logo Genes that share pathways with APLP2: view

SIGNOR curated interactions for APLP2 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for APLP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007186 G protein-coupled receptor signaling pathway NAS 8220435
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with APLP2: view

Drugs & Compounds for APLP2 Gene

(8) Drugs for APLP2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target, cofactor 2741
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target 0

(2) Additional Compounds for APLP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APLP2: view

Transcripts for APLP2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APLP2

Clone Products

  • Addgene plasmids for APLP2

Alternative Splicing Database (ASD) splice patterns (SP) for APLP2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c · 15d · 15e
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for APLP2 Gene

GeneLoc Exon Structure for
APLP2
ECgene alternative splicing isoforms for
APLP2

Expression for APLP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APLP2 Gene

Protein differential expression in normal tissues from HIPED for APLP2 Gene

This gene is overexpressed in Vitreous humor (20.9), Liver (9.4), Peripheral blood mononuclear cells (8.2), Cerebrospinal fluid (6.7), and Amniocyte (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APLP2 Gene



Protein tissue co-expression partners for APLP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of APLP2 Gene:

APLP2

SOURCE GeneReport for Unigene cluster for APLP2 Gene:

Hs.370247

mRNA Expression by UniProt/SwissProt for APLP2 Gene:

Q06481-APLP2_HUMAN
Tissue specificity: Expressed in placenta, brain, heart, lung, liver, kidney and endothelial tissues.

Evidence on tissue expression from TISSUES for APLP2 Gene

  • Nervous system(5)
  • Kidney(4.9)
  • Lung(4.9)
  • Pancreas(4.9)
  • Skin(4.8)
  • Blood(4.7)
  • Liver(4.6)
  • Intestine(4.5)
  • Eye(4.3)
  • Heart(4.1)
  • Stomach(4.1)
  • Thyroid gland(3.2)
  • Spleen(2.8)
  • Gall bladder(2.2)
  • Muscle(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with APLP2: 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 APLP2 Gene

Orthologs for APLP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for APLP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APLP2 33 32
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APLP2 33 32
  • 90.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aplp2 17 33 32
  • 89.39 (n)
rat
(Rattus norvegicus)
Mammalia Aplp2 32
  • 88.86 (n)
cow
(Bos Taurus)
Mammalia APLP2 33 32
  • 86.31 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APLP2 33
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APLP2 33
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves APLP2 33 32
  • 80.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APLP2 33
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3393 32
zebrafish
(Danio rerio)
Actinopterygii aplp2 33 32
  • 75.7 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Appl 33
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apl-1 33 34
  • 25 (a)
OneToMany
Species where no ortholog for APLP2 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)
  • 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 APLP2 Gene

ENSEMBL:
Gene Tree for APLP2 (if available)
TreeFam:
Gene Tree for APLP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APLP2: view image

Paralogs for APLP2 Gene

Paralogs for APLP2 Gene

(8) SIMAP similar genes for APLP2 Gene using alignment to 9 proteins:

  • APLP2_HUMAN
  • E9PK76_HUMAN
  • E9PPD0_HUMAN
  • E9PQS3_HUMAN
  • E9PSC7_HUMAN
  • F5GZY0_HUMAN
  • F5H845_HUMAN
  • L8E7K0_HUMAN
  • Q9UED0_HUMAN
genes like me logo Genes that share paralogs with APLP2: view

Variants for APLP2 Gene

Sequence variations from dbSNP and Humsavar for APLP2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000030702 -- 130,125,894(+) A/G intron_variant
rs1000111125 -- 130,115,079(+) T/C intron_variant
rs1000120947 -- 130,110,049(+) A/G intron_variant
rs1000167875 -- 130,129,428(+) G/C intron_variant
rs1000264089 -- 130,138,864(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for APLP2 Gene

Variant ID Type Subtype PubMed ID
dgv2198n54 CNV gain 21841781
dgv2199n54 CNV loss 21841781
dgv251n67 CNV gain 20364138
esv1620466 CNV deletion 17803354
esv27072 CNV loss 19812545
esv2759871 CNV loss 17122850
esv3548519 CNV deletion 23714750
esv3579969 CNV loss 25503493
nsv1051470 CNV gain 25217958
nsv549 CNV insertion 18451855
nsv556565 CNV loss 21841781
nsv556566 CNV loss 21841781
nsv832295 CNV gain 17160897

Variation tolerance for APLP2 Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.19; 80.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APLP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APLP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APLP2 Gene

Disorders for APLP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for APLP2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search APLP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APLP2

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 APLP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APLP2 Gene

Publications for APLP2 Gene

  1. Assignment of amyloid-precursor-like protein 2 gene (APLP2) to 11q24 by fluorescent in situ hybridization. (PMID: 10702673) Leach R … Krawetz SA (Cytogenetics and cell genetics 1999) 2 3 23 56
  2. A human amyloid precursor-like protein is highly homologous to a mouse sequence-specific DNA-binding protein. (PMID: 7702756) von der Kammer H … Scheit KH (DNA and cell biology 1994) 3 4 23 56
  3. Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid beta protein precursor. (PMID: 8220435) Wasco W … Tanzi RE (Nature genetics 1993) 3 4 23 56
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  5. Subcellular localization and dimerization of APLP1 are strikingly different from APP and APLP2. (PMID: 19126676) Kaden D … Multhaup G (Journal of cell science 2009) 3 23 56

Products for APLP2 Gene

  • Boster Bio Antibodies for APLP2
  • Boster Bio ELISA Kits for APLP2

Sources for APLP2 Gene