AutismKB 2.0

Annotation Detail for GZMB


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Basic Information Top
Gene Symbol:GZMB ( CCPI,CGL-1,CGL1,CSP-B,CSPB,CTLA1,CTSGL1,HLP,SECT )
Gene Full Name: granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
Band: 14q12
Quick LinksEntrez ID:3002; OMIM: 123910; Uniprot ID:GRAB_HUMAN; ENSEMBL ID: ENSG00000100453; HGNC ID: 4709
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
71N-linked (GlcNAc...).
104N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
71N-linked (GlcNAc...).Swiss-Prot 53.0
104N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
71N-linkedHMM predict
121Phosphothreonine(PKA)HMM predict
131PhosphoserineHMM predict
230S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004131
  • Location:chr14 24170003-24173271
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 24173393 24173488 95 169
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 24169321 24170294 973 196
Oct1 H2O2-HelaGSE14283 24167634 24167662 28 2356
No data
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