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Bace2 Gene Detail
Summary
  • Symbol
    Bace2
  • Name
    beta-site APP-cleaving enzyme 2
  • Synonyms
    1110059C24Rik, ALP56, ARP1, ASP21, BAE2, CDA13, CEAP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1860440
    NCBI Gene: 56175
  • Gene Overview
    MyGene.info: BACE2
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:97356728-97439012 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 57.40 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    431 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1860440
protein coding gene Chr16:97356728-97439012 (.)
129S1/SvImJ MGP_129S1SvImJ_G0023089
protein coding gene Chr16:98785817-98866905 (+)
A/J MGP_AJ_G0023057
protein coding gene Chr16:94119995-94201509 (+)
AKR/J MGP_AKRJ_G0023027
protein coding gene Chr16:97017550-97099072 (+)
BALB/cJ MGP_BALBcJ_G0023059
protein coding gene Chr16:94670343-94755262 (+)
C3H/HeJ MGP_C3HHeJ_G0022820
protein coding gene Chr16:97548719-97630134 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023506
protein coding gene Chr16:101887260-101969500 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021008
protein coding gene Chr16:91953813-92036067 (+)
CAST/EiJ MGP_CASTEiJ_G0022340
protein coding gene Chr16:98349978-98434390 (+)
CBA/J MGP_CBAJ_G0022789
protein coding gene Chr16:106302147-106389900 (+)
DBA/2J MGP_DBA2J_G0022923
protein coding gene Chr16:93985261-94066637 (+)
FVB/NJ MGP_FVBNJ_G0022897
protein coding gene Chr16:93150546-93232536 (+)
LP/J MGP_LPJ_G0022993
protein coding gene Chr16:98438996-98522590 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022918
protein coding gene Chr16:110452552-110540227 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023524
protein coding gene Chr16:97551593-97635028 (+)
PWK/PhJ MGP_PWKPhJ_G0022084
protein coding gene Chr16:94294768-94378604 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021914
protein coding gene Chr16:97062061-97148911 (+)
WSB/EiJ MGP_WSBEiJ_G0022390
protein coding gene Chr16:97836828-97922363 (+)



Homology
more
  • Human Ortholog
    BACE2, beta-secretase 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BACE2, beta-secretase 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP
  • Links
    NCBI Gene ID: 25825
    neXtProt AC: NX_Q9Y5Z0
    UniProt: Q9Y5Z0

  • Chr Location
    21q22.2-q22.3; chr21:41167801-41282534 (+)  GRCh38.p7

Human Diseases
less
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    35 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in impaired APP processing by neurons and glia and coat color defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56175 NCBI Gene Model | MGI Sequence Detail 82285 C57BL/6J ±  kb
    transcript NM_019517 RefSeq | MGI Sequence Detail 7686 C57BL/6  
    polypeptide Q9JL18 UniProt | EBI | MGI Sequence Detail 514 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 14
      Primer pair 2
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1916053, MGI:2146505
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 8
      Diseases 3
      Gene Ontology 7
      Phenotypes 35
    • Earliest
      J:65205 Marcinkiewicz M, et al., Coordinated expression of beta-amyloid precursor protein and the putative beta-secretase BACE and alpha-secretase ADAM10 in mouse and human brain. J Neurochem. 2000 Nov;75(5):2133-43
    • Latest
      J:262380 Watson-Scales S, et al., Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration. PLoS Genet. 2018 May;14(5):e1007383

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory