Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
25825
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Beta-secretase 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
BACE2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP |
Chromosome
Chromosome number
|
21 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
21q22.2-q22.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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. |
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 |
|
Tissue specificity |
TISSUE SPECIFICITY: Brain. Present in neurons within the hippocampus, frontal cortex and temporal cortex (at protein level). Expressed at low levels in most peripheral tissues and at higher levels in colon, kidney, pancreas, placenta, prostate, stomach an |
Sequence |
|
Sequence length |
518 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs13447324, 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 View all (12 more) |
31374203 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
Heart Failure |
Heart Failure |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
AA amyloidosis |
Associate
|
31270419 |
Alzheimer Disease |
Associate
|
10931940, 15492223, 24462566, 31270419, 32566665, 33633844 |
Alzheimer Disease |
Stimulate
|
22074738 |
Alzheimer Disease |
Inhibit
|
32647257 |
Carcinoma Ovarian Epithelial |
Inhibit
|
31158220 |
Cognitive Dysfunction |
Associate
|
22911757, 31270419 |
Dementia |
Associate
|
24462566, 32647257 |
Diabetes Gestational |
Associate
|
36313769 |
Diabetes Mellitus Type 2 |
Inhibit
|
24905913 |
Down Syndrome |
Associate
|
24462566, 28648597, 32647257, 33633844 |
Frontotemporal Dementia |
Stimulate
|
22074738 |
Heart Defects Congenital |
Associate
|
28648597 |
Heredodegenerative Disorders Nervous System |
Associate
|
22074738 |
Melanoma |
Stimulate
|
33601055, 36320118 |
Neoplasms |
Associate
|
24553122 |
Neoplasms |
Stimulate
|
33601055 |
Neurodegenerative Diseases |
Associate
|
22074738 |
Pigmentation Disorders |
Associate
|
33601055 |
Pre Eclampsia |
Stimulate
|
25031267 |
|