AutismKB 2.0

Annotation Detail for ECE2


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Basic Information Top
Gene Symbol:ECE2 ( KIAA0604,MGC17664,MGC2408,MGC78487 )
Gene Full Name: endothelin converting enzyme 2
Band: 3q27.1
Quick LinksEntrez ID:9718; OMIM: 610145; Uniprot ID:ECE2_HUMAN; ENSEMBL ID: ENSG00000145194; HGNC ID: 13275
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
39Phosphotyrosine.
324N-linked (GlcNAc...) (Potential).
384N-linked (GlcNAc...) (Potential).
429N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
183N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
187N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
228N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
288N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
333N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
400N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
556N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
649N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
657N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
114Phosphoserine(PKA)HMM predict
183N-linkedHMM predict
187N-linkedHMM predict
189Phosphoserine(CK2)HMM predict
190Phosphoserine(CK2)HMM predict
196Phosphothreonine(PKC)HMM predict
228N-linkedHMM predict
248Phosphothreonine(PKC)HMM predict
252O-linkedHMM predict
252O-linkedHMM predict
265Phosphoserine(CK1)HMM predict
265Phosphoserine(IKK)HMM predict
286Phosphotyrosine(Jak)HMM predict
286Phosphotyrosine(Syk)HMM predict
288N-linkedHMM predict
292N-linkedHMM predict
333N-linkedHMM predict
348Phosphotyrosine(INSR)HMM predict
348Phosphotyrosine(SRC)HMM predict
348Phosphotyrosine(Syk)HMM predict
374Phosphoserine(CDC2)HMM predict
379Phosphoserine(CK1)HMM predict
381Phosphoserine(CK1)HMM predict
400N-linkedHMM predict
420Phosphothreonine(PKA)HMM predict
518SulfotyrosineHMM predict
537Phosphotyrosine(Syk)HMM predict
576Phosphoserine(IKK)HMM predict
657N-linkedHMM predict
681Phosphothreonine(PKC)HMM predict
736Phosphothreonine(CDK)HMM predict
774ValineHMM predict
777ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001037324
  • Location:chr3 185476587-185493511
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 185495319 185495963 644 2130
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 185476390 185477118 728 0
CTCF G2GSE9613 185477848 185478673 825 0
CTCF G2GSE9613 185483385 185483713 328 0
CTCF G2GSE9613 185484157 185484699 542 0
CTCF G2GSE9613 185485285 185485786 501 0
CTCF G2GSE9613 185489688 185490349 661 0
CTCF G2GSE9613 185490822 185491638 816 0
CTCF G2GSE9613 185492162 185493323 1161 0
Rb QuiescentGSE19898 185489877 185490115 238 0
Rb shRbSenescenceGSE19898 185492679 185492902 223 0
hScc1 BcellGSE12603 185489798 185490349 551 0
hScc1 BcellGSE12603 185491992 185493284 1292 0
hScc1 CdLSGSE12603 185489688 185490349 661 0
hScc1 G2GSE9613 185485246 185485786 540 0
hScc1 G2GSE9613 185489688 185490349 661 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