AutismKB 2.0

Annotation Detail for ACE2


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Basic Information Top
Gene Symbol:ACE2 ( ACEH,DKFZp434A014 )
Gene Full Name: angiotensin I converting enzyme (peptidyl-dipeptidase A) 2
Band: Xp22.2
Quick LinksEntrez ID:59272; OMIM: 300335; Uniprot ID:ACE2_HUMAN; ENSEMBL ID: ENSG00000130234; HGNC ID: 13557
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
53N-linked (GlcNAc...) (Probable).
90N-linked (GlcNAc...).
103N-linked (GlcNAc...).
322N-linked (GlcNAc...) (Probable).
432N-linked (GlcNAc...).
546N-linked (GlcNAc...).
690N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
53N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
90N-linked (GlcNAc...).Swiss-Prot 53.0
103N-linked (GlcNAc...).Swiss-Prot 53.0
322N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
432N-linked (GlcNAc...).Swiss-Prot 53.0
546N-linked (GlcNAc...).Swiss-Prot 53.0
690N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
19Phosphoserine(PKG)HMM predict
19Phosphoserine(CK2)HMM predict
53N-linkedHMM predict
58N-linkedHMM predict
103N-linkedHMM predict
322N-linkedHMM predict
432N-linkedHMM predict
437N-linkedHMM predict
497Phosphotyrosine(Syk)HMM predict
497PhosphotyrosineHMM predict
546N-linkedHMM predict
613Phosphotyrosine(Syk)HMM predict
623Phosphoserine(PKG)HMM predict
707Phosphoserine(PKA)HMM predict
781Phosphotyrosine(INSR)HMM predict
781Phosphotyrosine(Abl)HMM predict
781Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021804
  • Location:chrX 15489076-15529057
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 15507845 15508313 468 0
Gata1 K562GSE18868 15507868 15508352 484 0
Gata2 K562GSE18868 15507869 15508455 586 0
hScc1 BcellGSE12603 15493364 15493697 333 0
hScc1 G2GSE9613 15493073 15493697 624 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-223 hsa-mir-223 X 19915717
hsa-miR-223* hsa-mir-223 X 19915717
hsa-miR-98 hsa-mir-98 X 19915717
No data
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