BACE2 (beta-secretase 2) - Rat Genome Database

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Gene: BACE2 (beta-secretase 2) Homo sapiens
Analyze
Symbol: BACE2
Name: beta-secretase 2
RGD ID: 1350115
HGNC Page HGNC:934
Description: Enables aspartic-type endopeptidase activity. Involved in several processes, including melanosome organization; negative regulation of amyloid precursor protein biosynthetic process; and proteolysis. Located in Golgi apparatus; melanosome membrane; and plasma membrane. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease and frontotemporal dementia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 56 kDa aspartic-like protease; AEPLC; ALP56; asp 1; ASP1; ASP21; aspartic-like protease 56 kDa; aspartyl protease 1; BAE2; beta secretase 2; beta-site amyloid beta A4 precursor protein-cleaving enzyme 2; beta-site amyloid precursor protein cleaving enzyme 2; beta-site APP cleaving enzyme 2; beta-site APP-cleaving enzyme 2; CDA13; CEAP1; down region aspartic protease; Down syndrome region aspartic protease; DRAP; memapsin 1; memapsin-1; membrane-associated aspartic protease 1; SLCO3A1/BACE2 fusion; theta-secretase; transmembrane aspartic proteinase Asp1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382141,168,160 - 41,282,530 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2141,167,801 - 41,282,530 (+)EnsemblGRCh38hg38GRCh38
GRCh372142,540,087 - 42,654,457 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362141,461,598 - 41,570,394 (+)NCBINCBI36Build 36hg18NCBI36
Build 342141,461,597 - 41,570,394NCBI
Celera2127,737,910 - 27,846,710 (+)NCBICelera
Cytogenetic Map21q22.2-q22.3NCBI
HuRef2128,008,619 - 28,123,292 (+)NCBIHuRef
CHM1_12142,100,065 - 42,215,315 (+)NCBICHM1_1
T2T-CHM13v2.02139,556,492 - 39,670,904 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
cisplatin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
DDE  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
linuron  (ISO)
lovastatin  (EXP,ISO)
mercury dichloride  (EXP)
methapyrilene  (EXP)
methyl methanesulfonate  (EXP)
mitomycin C  (EXP)
mitoxantrone  (EXP)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
parathion  (EXP)
phenylmercury acetate  (EXP)
potassium dichromate  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
temozolomide  (EXP)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. BACE2 suppression promotes ß-cell survival and function in a model of type 2 diabetes induced by human islet amyloid polypeptide overexpression. Alcarraz-Vizán G, etal., Cell Mol Life Sci. 2017 Aug;74(15):2827-2838. doi: 10.1007/s00018-017-2505-1. Epub 2017 Mar 23.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. BACE2 expression increases in human neurodegenerative disease. Holler CJ, etal., Am J Pathol. 2012 Jan;180(1):337-50. doi: 10.1016/j.ajpath.2011.09.034. Epub 2011 Nov 7.
4. Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study. Myllykangas L, etal., J Neurol Sci. 2005 Sep 15;236(1-2):17-24. doi: 10.1016/j.jns.2005.04.008.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10591213   PMID:10677483   PMID:10683441   PMID:10749877   PMID:10830953   PMID:10838186   PMID:10931940   PMID:10965118   PMID:11083922   PMID:11316808   PMID:11423558   PMID:11741910  
PMID:12054559   PMID:12093293   PMID:12135764   PMID:12423367   PMID:12477932   PMID:12611455   PMID:12618121   PMID:12665519   PMID:12707937   PMID:12801932   PMID:12895444   PMID:12975309  
PMID:14684825   PMID:14702039   PMID:15473697   PMID:15489334   PMID:15857888   PMID:16305800   PMID:16757811   PMID:16757812   PMID:16816112   PMID:16965550   PMID:17113083   PMID:17307738  
PMID:17511655   PMID:18163181   PMID:18976975   PMID:19124009   PMID:19240061   PMID:19840121   PMID:19913121   PMID:19968762   PMID:20494980   PMID:20628086   PMID:20943756   PMID:21873635  
PMID:21907142   PMID:22986058   PMID:23324234   PMID:23754390   PMID:23903356   PMID:24312169   PMID:25201988   PMID:25254246   PMID:26186194   PMID:26427429   PMID:26496610   PMID:26804314  
PMID:26840340   PMID:27100087   PMID:28514442   PMID:29117863   PMID:31270419   PMID:31856384   PMID:32149426   PMID:32160867   PMID:32566665   PMID:32647257   PMID:32814053   PMID:33144569  
PMID:33413577   PMID:33601055   PMID:33961781  


Genomics

Comparative Map Data
BACE2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382141,168,160 - 41,282,530 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2141,167,801 - 41,282,530 (+)EnsemblGRCh38hg38GRCh38
GRCh372142,540,087 - 42,654,457 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362141,461,598 - 41,570,394 (+)NCBINCBI36Build 36hg18NCBI36
Build 342141,461,597 - 41,570,394NCBI
Celera2127,737,910 - 27,846,710 (+)NCBICelera
Cytogenetic Map21q22.2-q22.3NCBI
HuRef2128,008,619 - 28,123,292 (+)NCBIHuRef
CHM1_12142,100,065 - 42,215,315 (+)NCBICHM1_1
T2T-CHM13v2.02139,556,492 - 39,670,904 (+)NCBIT2T-CHM13v2.0
Bace2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391697,157,928 - 97,244,136 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1697,157,942 - 97,244,136 (+)EnsemblGRCm39 Ensembl
GRCm381697,356,728 - 97,442,936 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1697,356,742 - 97,442,936 (+)EnsemblGRCm38mm10GRCm38
MGSCv371697,578,335 - 97,660,619 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361697,461,672 - 97,543,922 (+)NCBIMGSCv36mm8
Celera1698,415,225 - 98,499,352 (+)NCBICelera
Cytogenetic Map16C4NCBI
Bace2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21136,707,473 - 36,789,550 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1136,707,458 - 36,789,546 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1145,356,116 - 45,437,781 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01138,027,502 - 38,109,167 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01137,187,422 - 37,269,087 (+)NCBIRnor_WKY
Rnor_6.01137,798,397 - 37,880,624 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1137,798,370 - 37,880,821 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01141,305,984 - 41,389,663 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41137,345,568 - 37,428,155 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11137,403,156 - 37,485,744 (+)NCBI
Celera1136,594,056 - 36,676,118 (+)NCBICelera
Cytogenetic Map11q12NCBI
Bace2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540740,792,887 - 40,874,760 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540740,792,089 - 40,879,872 (+)NCBIChiLan1.0ChiLan1.0
BACE2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12140,831,209 - 40,939,253 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2140,831,203 - 40,938,280 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02127,500,453 - 27,612,795 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
BACE2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13135,714,003 - 35,760,686 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3135,713,149 - 35,760,681 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3134,835,731 - 34,915,420 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03135,197,633 - 35,277,577 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3135,196,852 - 35,277,649 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13135,095,350 - 35,174,795 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03135,071,879 - 35,151,408 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03135,564,859 - 35,644,622 (+)NCBIUU_Cfam_GSD_1.0
Bace2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497135,055,073 - 35,099,518 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365002,362,994 - 2,449,783 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BACE2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13204,600,735 - 204,694,836 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113204,600,740 - 204,720,215 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213214,759,157 - 214,846,140 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BACE2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1285,079,404 - 85,194,908 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl285,079,812 - 85,187,944 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605412,931,246 - 13,046,493 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bace2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474528,690,149 - 28,765,588 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474528,690,045 - 28,765,506 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
G20436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,548,951 - 42,549,059UniSTSGRCh37
Build 362141,470,821 - 41,470,929RGDNCBI36
Celera2127,747,133 - 27,747,241RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,017,904 - 28,018,012UniSTS
A005R16  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,548,951 - 42,549,059UniSTSGRCh37
Build 362141,470,821 - 41,470,929RGDNCBI36
Celera2127,747,133 - 27,747,241RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,017,904 - 28,018,012UniSTS
GeneMap99-GB4 RH Map21217.35UniSTS
SHGC-52055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,549,113 - 42,549,225UniSTSGRCh37
Build 362141,470,983 - 41,471,095RGDNCBI36
Celera2127,747,295 - 27,747,407RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,018,066 - 28,018,178UniSTS
TNG Radiation Hybrid Map2116218.0UniSTS
G35323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,541,033 - 42,541,281UniSTSGRCh37
Build 362141,462,903 - 41,463,151RGDNCBI36
Celera2127,739,215 - 27,739,463RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,009,986 - 28,010,234UniSTS
RH76632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,647,523 - 42,647,740UniSTSGRCh37
Build 362141,569,393 - 41,569,610RGDNCBI36
Celera2127,845,709 - 27,845,926RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,116,354 - 28,116,571UniSTS
SHGC-6869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,627,348 - 42,627,456UniSTSGRCh37
Build 362141,549,218 - 41,549,326RGDNCBI36
Celera2127,825,534 - 27,825,642RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,096,177 - 28,096,285UniSTS
RH79591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,551,899 - 42,552,111UniSTSGRCh37
GRCh3746,634,215 - 6,634,727UniSTSGRCh37
Build 3646,685,116 - 6,685,628RGDNCBI36
Celera2127,750,081 - 27,750,293UniSTS
Celera46,535,877 - 6,536,389RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,020,852 - 28,021,064UniSTS
HuRef46,565,755 - 6,566,267UniSTS
GeneMap99-GB4 RH Map21225.04UniSTS
RH98903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,648,075 - 42,648,231UniSTSGRCh37
Build 362141,569,945 - 41,570,101RGDNCBI36
Celera2127,846,261 - 27,846,417RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,116,906 - 28,117,062UniSTS
GeneMap99-GB4 RH Map21217.35UniSTS
D21S355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,627,205 - 42,627,513UniSTSGRCh37
Build 362141,549,075 - 41,549,383RGDNCBI36
Celera2127,825,391 - 27,825,699RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,096,034 - 28,096,342UniSTS
D21S398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,539,742 - 42,539,857UniSTSGRCh37
Build 362141,461,612 - 41,461,727RGDNCBI36
Celera2127,737,924 - 27,738,039RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,008,633 - 28,008,748UniSTS
D21S53  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,543,932 - 42,544,139UniSTSGRCh37
Build 362141,465,802 - 41,466,009RGDNCBI36
Celera2127,742,114 - 27,742,321RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,012,885 - 28,013,092UniSTS
D21S418E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,552,567 - 42,552,725UniSTSGRCh37
Build 362141,474,437 - 41,474,595RGDNCBI36
Celera2127,750,749 - 27,750,907RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,021,520 - 28,021,678UniSTS
SHGC-106623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,584,595 - 42,584,939UniSTSGRCh37
Build 362141,506,465 - 41,506,809RGDNCBI36
Celera2127,782,777 - 27,783,121RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,053,462 - 28,053,806UniSTS
TNG Radiation Hybrid Map2116244.0UniSTS
SHGC-87652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,557,059 - 42,557,179UniSTSGRCh37
Build 362141,478,929 - 41,479,049RGDNCBI36
Celera2127,755,241 - 27,755,361RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,026,012 - 28,026,132UniSTS
TNG Radiation Hybrid Map2116221.0UniSTS
GeneMap99-GB4 RH Map21217.35UniSTS
STS_CEB270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,550,922 - 42,551,563UniSTSGRCh37
Build 362141,472,792 - 41,473,433RGDNCBI36
Celera2127,749,104 - 27,749,745RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,019,875 - 28,020,516UniSTS
PMC310729P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,549,442 - 42,549,815UniSTSGRCh37
Build 362141,471,312 - 41,471,685RGDNCBI36
Celera2127,747,624 - 27,747,997RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,018,395 - 28,018,768UniSTS
BACE2_712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,647,893 - 42,648,683UniSTSGRCh37
Build 362141,569,763 - 41,570,553RGDNCBI36
Celera2127,846,079 - 27,846,869RGD
HuRef2128,116,724 - 28,117,514UniSTS
WI-11358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,548,809 - 42,548,933UniSTSGRCh37
Build 362141,470,679 - 41,470,803RGDNCBI36
Celera2127,746,991 - 27,747,115RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,017,762 - 28,017,886UniSTS
GeneMap99-GB4 RH Map21215.63UniSTS
Whitehead-RH Map21209.4UniSTS
WI-17388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,548,809 - 42,549,075UniSTSGRCh37
Build 362141,470,679 - 41,470,945RGDNCBI36
Celera2127,746,991 - 27,747,257RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,017,762 - 28,018,028UniSTS
GeneMap99-GB4 RH Map21217.35UniSTS
Whitehead-RH Map21201.7UniSTS
NCBI RH Map21368.5UniSTS
RH69858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,591,136 - 42,591,255UniSTSGRCh37
Build 362141,513,006 - 41,513,125RGDNCBI36
Celera2127,789,318 - 27,789,437RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,060,004 - 28,060,123UniSTS
GeneMap99-GB4 RH Map21217.35UniSTS
SHGC-87653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,591,126 - 42,591,247UniSTSGRCh37
Build 362141,512,996 - 41,513,117RGDNCBI36
Celera2127,789,308 - 27,789,429RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,059,994 - 28,060,115UniSTS
TNG Radiation Hybrid Map2116247.0UniSTS
GeneMap99-GB4 RH Map21217.35UniSTS
STS-AA035768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,648,167 - 42,648,318UniSTSGRCh37
Build 362141,570,037 - 41,570,188RGDNCBI36
Celera2127,846,353 - 27,846,504RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,116,998 - 28,117,149UniSTS
TNG Radiation Hybrid Map2116270.0UniSTS
GeneMap99-GB4 RH Map21217.35UniSTS
SHGC-52036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,548,839 - 42,549,016UniSTSGRCh37
Build 362141,470,709 - 41,470,886RGDNCBI36
Celera2127,747,021 - 27,747,198RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,017,792 - 28,017,969UniSTS
TNG Radiation Hybrid Map2116218.0UniSTS
SHGC-51917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,627,325 - 42,627,458UniSTSGRCh37
Build 362141,549,195 - 41,549,328RGDNCBI36
Celera2127,825,511 - 27,825,644RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,096,154 - 28,096,287UniSTS
TNG Radiation Hybrid Map2116257.0UniSTS
RH45177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,549,072 - 42,549,269UniSTSGRCh37
Build 362141,470,942 - 41,471,139RGDNCBI36
Celera2127,747,254 - 27,747,451RGD
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,018,025 - 28,018,222UniSTS
GeneMap99-GB4 RH Map21220.6UniSTS
NCBI RH Map21331.1UniSTS
SHGC-87655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,647,374 - 42,647,536UniSTSGRCh37
Build 362141,569,244 - 41,569,406RGDNCBI36
Celera2127,845,560 - 27,845,722RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,116,205 - 28,116,367UniSTS
TNG Radiation Hybrid Map2116267.0UniSTS
GeneMap99-GB4 RH Map21217.55UniSTS
PLAC4_3729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,548,726 - 42,549,622UniSTSGRCh37
Build 362141,470,596 - 41,471,492RGDNCBI36
Celera2127,746,908 - 27,747,804RGD
HuRef2128,017,679 - 28,018,575UniSTS
UniSTS:483705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,556,624 - 42,557,111UniSTSGRCh37
Build 362141,478,494 - 41,478,981RGDNCBI36
Celera2127,754,806 - 27,755,293RGD
HuRef2128,025,577 - 28,026,064UniSTS
SHGC-87646  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.2UniSTS
HuRef2128,019,655 - 28,019,785UniSTS
TNG Radiation Hybrid Map2116221.0UniSTS
GeneMap99-GB4 RH Map21217.35UniSTS
STS-T66917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,551,180 - 42,551,602UniSTSGRCh37
GRCh372142,551,202 - 42,551,602UniSTSGRCh37
Celera2127,749,384 - 27,749,784UniSTS
Celera2127,749,362 - 27,749,784UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.2UniSTS
HuRef2128,020,133 - 28,020,555UniSTS
HuRef2128,020,155 - 28,020,555UniSTS
GeneMap99-GB4 RH Map21217.35UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4194
Count of miRNA genes:1244
Interacting mature miRNAs:1588
Transcripts:ENST00000328735, ENST00000330333, ENST00000347667, ENST00000463674, ENST00000465326, ENST00000466122, ENST00000470864, ENST00000475618, ENST00000487994, ENST00000491838
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1597 1449 564 198 306 52 2525 627 738 296 815 964 155 920 1656 2
Low 829 1235 1090 360 1138 347 1831 1553 2453 121 619 612 15 284 1132 1 2
Below cutoff 8 302 69 65 487 65 12 517 1 19 33 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF050171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF117892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF178532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF188276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF188277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF200192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF200342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF204944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF212252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL163284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL163285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL773572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL773575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL773578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY769996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ006998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ092487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY966280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY966301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000328735   ⟹   ENSP00000333854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,167,801 - 41,276,597 (+)Ensembl
RefSeq Acc Id: ENST00000330333   ⟹   ENSP00000332979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,168,160 - 41,282,530 (+)Ensembl
RefSeq Acc Id: ENST00000347667   ⟹   ENSP00000327528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,167,801 - 41,282,518 (+)Ensembl
RefSeq Acc Id: ENST00000463674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,241,745 - 41,275,624 (+)Ensembl
RefSeq Acc Id: ENST00000465326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,236,628 - 41,257,326 (+)Ensembl
RefSeq Acc Id: ENST00000466122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,230,118 - 41,276,597 (+)Ensembl
RefSeq Acc Id: ENST00000470864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,225,476 - 41,241,839 (+)Ensembl
RefSeq Acc Id: ENST00000475618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,252,465 - 41,257,326 (+)Ensembl
RefSeq Acc Id: ENST00000487994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,226,266 - 41,275,381 (+)Ensembl
RefSeq Acc Id: ENST00000491838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,226,303 - 41,246,271 (+)Ensembl
RefSeq Acc Id: NM_012105   ⟹   NP_036237
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,168,160 - 41,282,530 (+)NCBI
GRCh372142,539,728 - 42,654,461 (+)NCBI
Build 362141,461,598 - 41,570,394 (+)NCBI Archive
HuRef2128,008,619 - 28,123,292 (+)NCBI
CHM1_12142,100,065 - 42,215,315 (+)NCBI
T2T-CHM13v2.02139,556,492 - 39,670,904 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138991   ⟹   NP_620476
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,168,160 - 41,282,530 (+)NCBI
GRCh372142,539,728 - 42,654,461 (+)NCBI
Build 362141,461,598 - 41,570,394 (+)NCBI Archive
HuRef2128,008,619 - 28,123,292 (+)NCBI
CHM1_12142,100,065 - 42,215,315 (+)NCBI
T2T-CHM13v2.02139,556,492 - 39,670,904 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138992   ⟹   NP_620477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,168,160 - 41,282,530 (+)NCBI
GRCh372142,539,728 - 42,654,461 (+)NCBI
Build 362141,461,598 - 41,570,394 (+)NCBI Archive
HuRef2128,008,619 - 28,123,292 (+)NCBI
CHM1_12142,100,065 - 42,215,315 (+)NCBI
T2T-CHM13v2.02139,556,492 - 39,670,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028314   ⟹   XP_016883803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,187,021 - 41,282,530 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036237   ⟸   NM_012105
- Peptide Label: isoform A preproprotein
- UniProtKB: Q9UJT6 (UniProtKB/Swiss-Prot),   Q9Y5Z0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_620477   ⟸   NM_138992
- Peptide Label: isoform B preproprotein
- UniProtKB: Q9Y5Z0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_620476   ⟸   NM_138991
- Peptide Label: isoform C preproprotein
- UniProtKB: Q9Y5Z0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883803   ⟸   XM_017028314
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000327528   ⟸   ENST00000347667
RefSeq Acc Id: ENSP00000333854   ⟸   ENST00000328735
RefSeq Acc Id: ENSP00000332979   ⟸   ENST00000330333
Protein Domains
Peptidase A1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5Z0-F1-model_v2 AlphaFold Q9Y5Z0 1-518 view protein structure

Promoters
RGD ID:13602866
Promoter ID:EPDNEW_H27617
Type:initiation region
Name:BACE2_3
Description:beta-site APP-cleaving enzyme 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27618  EPDNEW_H27619  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,167,576 - 41,167,636EPDNEW
RGD ID:13602868
Promoter ID:EPDNEW_H27618
Type:initiation region
Name:BACE2_2
Description:beta-site APP-cleaving enzyme 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27617  EPDNEW_H27619  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,167,830 - 41,167,890EPDNEW
RGD ID:13602870
Promoter ID:EPDNEW_H27619
Type:initiation region
Name:BACE2_1
Description:beta-site APP-cleaving enzyme 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27617  EPDNEW_H27618  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,168,160 - 41,168,220EPDNEW
RGD ID:6799305
Promoter ID:HG_KWN:40944
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:NM_012105,   NM_138991,   NM_138992
Position:
Human AssemblyChrPosition (strand)Source
Build 362141,461,546 - 41,462,046 (+)MPROMDB
RGD ID:6799304
Promoter ID:HG_KWN:40951
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000195061
Position:
Human AssemblyChrPosition (strand)Source
Build 362141,530,116 - 41,530,617 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1 copy number loss See cases [RCV000051047] Chr21:37135738..42434515 [GRCh38]
Chr21:38508038..43854625 [GRCh37]
Chr21:37429908..42727694 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 copy number loss See cases [RCV000142650] Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3 copy number gain See cases [RCV000239953] Chr21:39841248..44652723 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1 copy number loss See cases [RCV000446516] Chr21:38790552..43619940 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
NC_000021.9:g.(?_38981673)_(41568791_?)del deletion Autism [RCV000754228] Chr21:38981673..41568791 [GRCh38]
Chr21:21q22.2-22.3
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1 copy number loss not provided [RCV000741567] Chr21:40364245..44169928 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_012105.5(BACE2):c.1135-10C>T single nucleotide variant not provided [RCV000968785] Chr21:41257148 [GRCh38]
Chr21:42629075 [GRCh37]
Chr21:21q22.3
benign
NM_012105.5(BACE2):c.1432G>A (p.Val478Ile) single nucleotide variant not provided [RCV000901202] Chr21:41275499 [GRCh38]
Chr21:42647426 [GRCh37]
Chr21:21q22.3
likely benign
NM_012105.5(BACE2):c.166C>T (p.His56Tyr) single nucleotide variant not provided [RCV000898929] Chr21:41168429 [GRCh38]
Chr21:42540356 [GRCh37]
Chr21:21q22.2
benign
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787405] Chr21:42300424..43682911 [GRCh37]
Chr21:21q22.2-22.3
uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_012105.5(BACE2):c.1233G>A (p.Val411=) single nucleotide variant not provided [RCV000883552] Chr21:41257256 [GRCh38]
Chr21:42629183 [GRCh37]
Chr21:21q22.3
likely benign
NM_012105.5(BACE2):c.1304-8C>T single nucleotide variant not provided [RCV000968786] Chr21:41275363 [GRCh38]
Chr21:42647290 [GRCh37]
Chr21:21q22.3
benign
NM_012105.5(BACE2):c.489C>T (p.Val163=) single nucleotide variant not provided [RCV000981494] Chr21:41237600 [GRCh38]
Chr21:42609527 [GRCh37]
Chr21:21q22.3
likely benign
NM_012105.5(BACE2):c.264T>A (p.Ser88=) single nucleotide variant not provided [RCV000933381] Chr21:41168527 [GRCh38]
Chr21:42540454 [GRCh37]
Chr21:21q22.2
likely benign
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1 copy number loss not provided [RCV001007132] Chr21:39410438..45171756 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:934 AgrOrtholog
COSMIC BACE2 COSMIC
Ensembl Genes ENSG00000182240 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000327528 ENTREZGENE
  ENSP00000327528.4 UniProtKB/Swiss-Prot
  ENSP00000332979 ENTREZGENE
  ENSP00000332979.6 UniProtKB/Swiss-Prot
  ENSP00000333854 ENTREZGENE
  ENSP00000333854.6 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000328735 ENTREZGENE
  ENST00000328735.10 UniProtKB/Swiss-Prot
  ENST00000330333 ENTREZGENE
  ENST00000330333.11 UniProtKB/Swiss-Prot
  ENST00000347667 ENTREZGENE
  ENST00000347667.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.70.10 UniProtKB/Swiss-Prot
GTEx ENSG00000182240 GTEx
HGNC ID HGNC:934 ENTREZGENE
Human Proteome Map BACE2 Human Proteome Map
InterPro Aspartic_peptidase_A1 UniProtKB/Swiss-Prot
  Aspartic_peptidase_AS UniProtKB/Swiss-Prot
  BACE UniProtKB/Swiss-Prot
  BACE2 UniProtKB/Swiss-Prot
  Memapsin-like UniProtKB/Swiss-Prot
  PEPTIDASE_A1 UniProtKB/Swiss-Prot
  Peptidase_aspartic_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:25825 UniProtKB/Swiss-Prot
NCBI Gene 25825 ENTREZGENE
OMIM 605668 OMIM
PANTHER PTHR47965 UniProtKB/Swiss-Prot
  PTHR47965:SF40 UniProtKB/Swiss-Prot
Pfam Asp UniProtKB/Swiss-Prot
PharmGKB PA25233 PharmGKB
PRINTS BACE2 UniProtKB/Swiss-Prot
  BACEFAMILY UniProtKB/Swiss-Prot
  PEPSIN UniProtKB/Swiss-Prot
PROSITE ASP_PROTEASE UniProtKB/Swiss-Prot
  PEPTIDASE_A1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50630 UniProtKB/Swiss-Prot
UniProt BACE2_HUMAN UniProtKB/Swiss-Prot
  Q9UJT6 ENTREZGENE
  Q9Y5Z0 ENTREZGENE
UniProt Secondary A8K7P1 UniProtKB/Swiss-Prot
  Q5DIH8 UniProtKB/Swiss-Prot
  Q8N2D4 UniProtKB/Swiss-Prot
  Q9H2V8 UniProtKB/Swiss-Prot
  Q9NZL1 UniProtKB/Swiss-Prot
  Q9NZL2 UniProtKB/Swiss-Prot
  Q9UJT6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-15 BACE2  beta-secretase 2  BACE2  beta-site APP-cleaving enzyme 2  Symbol and/or name change 5135510 APPROVED