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Gene : APP Homo sapiens

Name  ? amyloid beta precursor protein Cytological Location  21q21.3
Brief Description  amyloid beta precursor protein
description  This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]
  • synonyms:
  • APP,
  • AD1,
  • preA4,
  • uc002ylz.4,
  • ABETA,
  • AAA,
  • PN-II,
  • NM_000484,
  • HGNC:620,
  • CTFgamma,
  • OTTHUMG00000078438,
  • CVAP,
  • amyloid beta (A4) precursor protein,
  • ABPP,
  • Alzheimer disease,
  • AD1,
  • PN2,
  • peptidase nexin-II,
  • M15533,
  • APPI
  • identifiers:
  • 351,
  • ENSG00000142192,
  • APP

Genome feature

Region: gene ? Length: 290579  
Location: 21:25880550-26171128 reverse strand Cyto location: 21q21.3


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Function

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59 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

59 Pathways

257 SN Ps

5 Cross References

19 Data Sets

8 Homologues

3 Located Features

90 Rna Seq Results