Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
25825 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Beta-secretase 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
BACE2 |
SynonymsGene synonyms aliases
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AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP |
ChromosomeChromosome number
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21 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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21q22.2-q22.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer`s disease and Down syndrome. |
miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
|
Transcription factor |
Regulation |
Reference |
SP1 |
Unknown |
15857888 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q9Y5Z0 |
Protein name |
Beta-secretase 2 (EC 3.4.23.45) (Aspartic-like protease 56 kDa) (Aspartyl protease 1) (ASP1) (Asp 1) (Beta-site amyloid precursor protein cleaving enzyme 2) (Beta-site APP cleaving enzyme 2) (Down region aspartic protease) (DRAP) (Memapsin-1) (Membrane-as |
Protein function |
Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C- |
PDB |
2EWY
,
3ZKG
,
3ZKI
,
3ZKM
,
3ZKN
,
3ZKQ
,
3ZKS
,
3ZKX
,
3ZL7
,
3ZLQ
,
4BEL
,
4BFB
,
6JSZ
,
6UJ0
,
6UJ1
,
7D5B
,
7D5U
,
7F1G
,
7N4N
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00026 |
Asp |
91 → 431 |
Eukaryotic aspartyl protease |
Family |
|
Sequence |
|
Sequence length |
518 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
31374203 |
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