AutismKB 2.0

Annotation Detail for CHMP2B


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Basic Information Top
Gene Symbol:CHMP2B ( CHMP2.5,DKFZp564O123,DMT1,VPS2-2,VPS2B )
Gene Full Name: chromatin modifying protein 2B
Band: 3p11.2
Quick LinksEntrez ID:25978; OMIM: 609512; Uniprot ID:CHM2B_HUMAN; ENSEMBL ID: ENSG00000083937; HGNC ID: 24537
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
199Phosphoserine.
211MIT-interacting motif.
Location(AA) Modifications Resource
199Phosphoserine.Swiss-Prot 53.0
199PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
9Phosphothreonine(PKC)HMM predict
79O-linkedHMM predict
83O-linkedHMM predict
143N-linkedHMM predict
153Phosphoserine(CK2)HMM predict
159Phosphoserine(CK1)HMM predict
187O-linkedHMM predict
190O-linkedHMM predict
193O-linkedHMM predict
199Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014043
  • Location:chr3 87359286-87387337
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 87358842 87359359 517 186
ETS1 JurkatGSE17954 87358649 87359494 845 215
FOXA1 MCF7GSE15244 87358526 87359891 1365 78
Oct1 HelaGSE14283 87357575 87357620 45 1689
PHF8 293TGSE20725 87358506 87359860 1354 104
PHF8 HeLaGSE20725 87358403 87359790 1387 190
TAFII hESGSE17917 87358909 87359438 529 113
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 87387092 87387127 35 0
H3K4me3 colorectalcancer 87358281 87360472 2191 0
H3ac HepG2E 87358245 87360438 2193 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