AutismKB 2.0

Annotation Details for ITIH4


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Basic Information Top
Gene Symbol:ITIH4 ( DKFZp686G21125,H4P,IHRP,ITIHL1,PK120 )
Gene Full Name: inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)
Band: 3p21.1
Quick LinksEntrez ID:3700; OMIM: 600564; Uniprot ID:ITIH4_HUMAN; ENSEMBL ID: ENSG00000055955,ENSG00000243696; HGNC ID: 6169
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576NAS-extracellular region14718574
GO:0005576TAS-extracellular region-
GO:0005886IEA-plasma membrane-
GO:0031089TAS-platelet dense granule lumen-
GO:0070062IDA-extracellular exosome19056867
GO:0072562IDA-blood microparticle22516433
GO ID Evidence Qualifier GO_term References
GO:0004866TAS-endopeptidase inhibitor activity9756925
GO:0004867IEA-serine-type endopeptidase inhibitor activity-
GO:0005515IPI-protein binding16271702
GO ID Evidence Qualifier GO_term References
GO:0002576TAS-platelet degranulation-
GO:0006953IEP-acute-phase response19263524
GO:0010951IEA-negative regulation of endopeptidase activity-
GO:0030212IEA-hyaluronan metabolic process-
GO:0034097IEP-response to cytokine10486281
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109536
  • Data Attributes: MGI curated and HomoloGene calculated
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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