AutismKB 2.0

Annotation Detail for ECM2


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Basic Information Top
Gene Symbol:ECM2 ( MGC126355,MGC126356 )
Gene Full Name: extracellular matrix protein 2, female organ and adipocyte specific
Band: 9q22.31
Quick LinksEntrez ID:1842; OMIM: 603479; Uniprot ID:ECM2_HUMAN; ENSEMBL ID: ENSG00000106823; HGNC ID: 3154
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
213Phosphoserine (By similarity).
296Cell attachment site (Potential).
378N-linked (GlcNAc...) (Potential).
449N-linked (GlcNAc...) (Potential).
506N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
378N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
449N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
506N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
59O-linkedHMM predict
74SulfotyrosineHMM predict
100O-linkedHMM predict
230Phosphothreonine(CDK)HMM predict
230Phosphothreonine(MAPK)HMM predict
230Phosphothreonine(PKA)HMM predict
246MethylarginineHMM predict
304O-linkedHMM predict
304PhosphoserineHMM predict
304Phosphoserine(CDK)HMM predict
313Phosphothreonine(PKA)HMM predict
378N-linkedHMM predict
410Phosphoserine(ATM)HMM predict
435Phosphoserine(CK1)HMM predict
449N-linkedHMM predict
454N-linkedHMM predict
506N-linkedHMM predict
512N-linkedHMM predict
548Phosphotyrosine(INSR)HMM predict
585Phosphotyrosine(Jak)HMM predict
660Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001393
  • Location:chr9 94297419-94338072
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 94304179 94304511 332 0
Oct1 HelaGSE14283 94308284 94308312 28 0
P300 T30-glioblastomaGSE21026 94308189 94309115 926 0
Sox2 hESGSE18292 94319231 94319643 412 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