Bace2 MGI Mouse Gene Detail - MGI:1860440 - beta-site APP-cleaving enzyme 2

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

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

SNPs within 2kb

439 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:934

NCBI Gene ID: 25825

neXtProt AC: NX_Q9Y5Z0

UniProt: Q9Y5Z0
Chr Location

21q22.2-q22.3; chr21:41167801-41282530 (+) GRCh38

MGI Vertebrate Homology

Bace2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BACE2
Gene Tree

Bace2

Diseases

1 with human BACE2 associations

				Human Disease	Mouse Models
				Alzheimer's disease IDs Alzheimer's disease DOID:10652 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 UMLS_CUI:C0002395

Click on a disease name to see all genes associated with that disease.

References

6 with disease annotations

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Phenotype Summary

9 phenotypes from 2 alleles in 2 genetic backgrounds
4 phenotypes from multigenic genotypes
103 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

19
Endonuclease-mediated

5
Spontaneous

1
Targeted

12
Genomic Mutations

7 involving Bace2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

41 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in impaired APP processing by neurons and glia and coat color defects.

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All GO Annotations

27
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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bace2

ZFIN bace2

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All Sequences

65
RefSeq

4
UniProt

4
CCDS

CCDS28359.1

Ensembl

ENSMUSG00000040605 (Evidence)
NCBI Gene

56175

			Length	Strain/Species	Flank
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

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UniProt

4 Sequences
Protein Ontology

PR:000004616 beta-secretase 2

(term hierarchy)
EC

3.4.23.45
InterPro Domains

IPR001461 Aspartic peptidase A1 family

IPR001969 Aspartic peptidase, active site

IPR021109 Aspartic peptidase domain superfamily

IPR009119 Beta-secretase BACE

IPR009121 Beta-secretase BACE2

IPR033874 Memapsin-like

IPR033121 Peptidase family A1 domain

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All nucleic 19

cDNA 15

Primer pair 3

Other 1

Microarray probesets 8

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MGI:1916053, MGI:2146505

Summaries

All 144

Developmental Gene Expression 10

Diseases 6

Gene Ontology 8

Phenotypes 103
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:345472 Lana-Elola E, et al., Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome. Sci Transl Med. 2024 Jan 24;16(731):eadd6883

TSS for Bace2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr139682	Chr16:97157921-97157932 (+)	-15 bp
Tssr139683	Chr16:97157934-97157998 (+)	24 bp
Tssr139684	Chr16:97158076-97158086 (+)	139 bp
Tssr139685	Chr16:97192536-97192542 (+)	34,597 bp
Tssr4978	Chr16:97224903-97224904 (+)	66,962 bp

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23