AutismKB 2.0

Annotation Detail for BACE2


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Basic Information Top
Gene Symbol:BACE2 ( AEPLC,ALP56,ASP1,ASP21,BAE2,CEAP1,DRAP )
Gene Full Name: beta-site APP-cleaving enzyme 2
Band: 21q22.2-q22.3
Quick LinksEntrez ID:25825; OMIM: 605668; Uniprot ID:BACE2_HUMAN; ENSEMBL ID: ENSG00000182240; HGNC ID: 934
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
170N-linked (GlcNAc...) (Potential).
366N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
170N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
366N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
46O-linkedHMM predict
46Phosphothreonine(MAPK)HMM predict
51Phosphothreonine(CDK)HMM predict
51Phosphothreonine(MAPK)HMM predict
70Phosphoserine(CDC2)HMM predict
125SulfotyrosineHMM predict
125Phosphotyrosine(INSR)HMM predict
137Phosphothreonine(PKC)HMM predict
138Phosphotyrosine(PKC)HMM predict
242O-linkedHMM predict
327Phosphoserine(PKG)HMM predict
366N-linkedHMM predict
399Phosphoserine(CDC2)HMM predict
511Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138992
  • Location:chr21 41461597-41570392
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 41442641 41443492 851 18531
FOXA1 MCF7GSE15244 41442130 41442912 782 19077
FOXA1 MCF7GSE15244 41443284 41443714 430 18099
FOXA1 MCF7GSE15244 41458829 41459625 796 2371
RARA MCF7GSE15244 41442199 41442912 713 19042
RARA MCF7GSE15244 41443284 41444083 799 17914
RARA MCF7GSE15244 41458829 41459625 796 2371
RARG MCF7GSE15244 41442199 41442912 713 19042
RARG MCF7GSE15244 41443284 41444083 799 17914
RARG MCF7GSE15244 41458829 41459812 983 2277
p130 QuiescentGSE19898 41461465 41461711 246 10
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 41577070 41577373 303 6829
CTCF CD4SISSRdata 41577070 41577373 303 6829
CTCF G2GSE9613 41577071 41577406 335 6846
hScc1 BcellGSE12603 41576632 41577928 1296 6888
hScc1 CdLSGSE12603 41576598 41577963 1365 6888
hScc1 G2GSE9613 41576970 41577627 657 6906
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 41520155 41522922 2767 0
Oct4 hESGSE17917 41493143 41493341 198 0
P300 T30-glioblastomaGSE21026 41544049 41544999 950 0
RARA MCF7GSE15244 41542928 41543183 255 0
Rb SenescentGSE19898 41462555 41462786 231 0
TFAP2C MCF7GSE21234 41511267 41511923 656 0
hScc1 BcellGSE12603 41461804 41462275 471 0
hScc1 BcellGSE12603 41542856 41543538 682 0
hScc1 CdLSGSE12603 41461634 41462320 686 0
p130 SenescentGSE19898 41461508 41461847 339 0
p130 shRbSenescentGSE19898 41542431 41542612 181 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018