AutismKB 2.0

Annotation Details for GZMH


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Basic Information Top
Gene Symbol:GZMH ( CCP-X,CGL-2,CSP-C,CTLA1,CTSGL2 )
Gene Full Name: granzyme H (cathepsin G-like 2, protein h-CCPX)
Band: 14q12
Quick LinksEntrez ID:2999; OMIM: 116831; Uniprot ID:GRAH_HUMAN; ENSEMBL ID: ENSG00000100450; HGNC ID: 4710
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IBA-cytoplasm-
GO:0016020IDA-membrane19946888
GO:0043231IBA-intracellular membrane-bounded organelle-
GO ID Evidence Qualifier GO_term References
GO:0004252IBA-serine-type endopeptidase activity-
GO:0004252NAS-serine-type endopeptidase activity2193684
GO ID Evidence Qualifier GO_term References
GO:0006915NAS-apoptotic process2193684
GO:0006955IBA-immune response-
GO:0016485IBA-protein processing-
GO:0019835IEA-cytolysis-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109253
  • Data Attributes: HomoloGene calculated
No data
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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