AutismKB 2.0

Annotation Details for DEFA4


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Basic Information Top
Gene Symbol:DEFA4 ( DEF4,HNP-4,HP-4,HP4,MGC120099,MGC138296 )
Gene Full Name: defensin, alpha 4, corticostatin
Band: 8p23.1
Quick LinksEntrez ID:1669; OMIM: 601157; Uniprot ID:DEF4_HUMAN; ENSEMBL ID: ENSG00000164821; HGNC ID: 2763
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IEA-extracellular space-
GO:0005796TAS-Golgi lumen-
GO:0035580TAS-specific granule lumen-
GO:0042582IDA-azurophil granule2500436
No data
GO ID Evidence Qualifier GO_term References
GO:0019730IDA-antimicrobial humoral response2500436
GO:0019730TAS-antimicrobial humoral response-
GO:0019731IDA-antibacterial humoral response2500436
GO:0019732IDA-antifungal humoral response2500436
GO:0031640IEA-killing of cells of other organism-
GO:0043312TAS-neutrophil degranulation-
GO:0045087IDA-innate immune response2500436
GO:0050829IDA-defense response to Gram-negative bacterium2500436
GO:0050830IDA-defense response to Gram-positive bacterium2500436
GO:0050832IDA-defense response to fungus2500436
GO:0061844IDA-antimicrobial humoral immune response mediated by antimicrobial peptide2500436
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model 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