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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:97157942-97244136 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 57.40 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1843 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 Chr16:97157928-97244136 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BACE2, beta-secretase 2
  • 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; chr21:41167801-41282530 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human BACE2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    4 phenotypes from multigenic genotypes
    108 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
    28
  • GO References
    8
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    981
  • Tissues
    179
  • cDNA Data
    15
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040605 Ensembl Gene Model | MGI Sequence Detail 86195 C57BL/6J ±  kb
    transcript ENSMUST00000047275 Ensembl | MGI Sequence Detail 7646 Not Applicable  
    polypeptide ENSMUSP00000043918 Ensembl | MGI Sequence Detail 514 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 15
      Primer pair 3
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1916053, MGI:2146505
    References
    more
    • Summaries
      All 149
      Developmental Gene Expression 10
      Diseases 6
      Gene Ontology 8
      Phenotypes 108
    • Earliest
      J:42265 Huang TT, et al., Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. Arch Biochem Biophys. 1997 Aug 15;344(2):424-32
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory