AutismKB 2.0

Annotation Detail for SMC2


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Basic Information Top
Gene Symbol:SMC2 ( CAP-E,CAPE,FLJ10093,SMC2L1,hCAP-E )
Gene Full Name: structural maintenance of chromosomes 2
Band: 9q31.1
Quick LinksEntrez ID:10592; OMIM: 605576; Uniprot ID:SMC2_HUMAN; ENSEMBL ID: ENSG00000136824; HGNC ID: 14011
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
114N6-acetyllysine.
222N6-acetyllysine.
677N6-acetyllysine.
1158N6-acetyllysine.
1160N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
34N-linkedHMM predict
40N-linkedHMM predict
104O-linkedHMM predict
123N-linkedHMM predict
124N-linkedHMM predict
184Phosphothreonine(PKC)HMM predict
215Phosphoserine(CK1)HMM predict
216Phosphoserine(PKG)HMM predict
217Phosphotyrosine(Syk)HMM predict
268Phosphoserine(CK1)HMM predict
388Phosphoserine(CK2)HMM predict
414Phosphothreonine(PKC)HMM predict
470Phosphotyrosine(INSR)HMM predict
496Phosphotyrosine(Syk)HMM predict
574Phosphothreonine(PKA)HMM predict
608Phosphoserine(PKG)HMM predict
669Phosphoserine(ATM)HMM predict
773Phosphotyrosine(SRC)HMM predict
773Phosphotyrosine(Syk)HMM predict
1081N-linkedHMM predict
1190ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001042550
  • Location:chr9 105896651-105943513
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 105954311 105954349 38 10817
RNAII Tamoxifen-MCF7GSE14664 105951329 105951366 37 7834
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 105896723 105897388 665 0
LIN9 G0GSE7516 105895903 105897637 1734 0
Oct1 HelaGSE14283 105918774 105918851 77 0
RNAII Tamoxifen-MCF7GSE14664 105928281 105928333 52 0
TAF k562GSE8489 105896910 105897530 620 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


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