 |
APP |
Gene Facts External Data Attribution
- HGNC Symbol
- APP (HGNC:620) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- amyloid beta precursor protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- AD1
- Alias symbols
- alpha-sAPP
- %HI
- 0.94(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.41(Read more about gnomAD LOEUF score)
- Cytoband
- 21q21.3
- Genomic Coordinates
-
GRCh37/hg19: chr21:27252861-27543446 NCBI Ensembl UCSC GRCh38/hg38: chr21:25880550-26171128 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000484.4 ENST00000346798.8 (Read more about MANE Select)
- Function
- Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis (PubMed:25122912). Involved in cell mobility and transcription regulation through protein-protein interactions. Can promote transcription activation through binding to APBB1-KAT5 and inhibits Notch signaling through interaction with Numb. Couples to apoptos... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-1095
ClinGen Curation ID:
CCID:006677
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000021.8)
(NC_000021.9)
