AutismKB 2.0

Annotation Details 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
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001772TAS-immunological synapse12524539
GO:0005634TAS-nucleus11909973
GO:0005737IBA-cytoplasm-
GO:0005739IEA-mitochondrion-
GO:0005829TAS-cytosol-
GO:0016020IDA-membrane19946888
GO ID Evidence Qualifier GO_term References
GO:0004252IDA-serine-type endopeptidase activity11331782
GO:0004252TAS-serine-type endopeptidase activity12524539
GO:0005515IPI-protein binding11911826
GO:0008236TAS-serine-type peptidase activity2402757
GO ID Evidence Qualifier GO_term References
GO:0006915TAS-apoptotic process12524539
GO:0016485IBA-protein processing-
GO:0019835IEA-cytolysis-
GO:0042267IMP-natural killer cell mediated cytotoxicity21795594
GO:1900740TAS-positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SERPINB9GZMB1092578910377 Reconstituted Complex
SERPINB9GZMB1112908910377 Reconstituted Complex
UBE4AGZMB11475711802788 Biochemical Activity
UBE4AGZMB10925711802788 Biochemical Activity
SRGNGZMB11154312388539 Reconstituted Complex
SRGNGZMB10925712388539 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109267
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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