AutismKB 2.0

Annotation Details for DEFB4A


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Basic Information Top
Gene Symbol:DEFB4A ( DEFB-2,DEFB102,DEFB2,DEFB4,HBD-2,SAP1 )
Gene Full Name: defensin, beta 4A
Band: 8p23.1
Quick LinksEntrez ID:1673; OMIM: 602215; Uniprot ID:DFB4A_HUMAN; ENSEMBL ID: ENSG00000171711; HGNC ID: 2767
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IDA-extracellular space9727055
GO:0005622IDA-intracellular9727055
GO:0005796TAS-Golgi lumen-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding20068036
GO:0031731IDA-CCR6 chemokine receptor binding20068036
GO ID Evidence Qualifier GO_term References
GO:0006935IDA-chemotaxis20068036
GO:0006955TAS-immune response10521347
GO:0007186TAS-G-protein coupled receptor signaling pathway10521347
GO:0019730TAS-antimicrobial humoral response-
GO:0031640IMP-killing of cells of other organism9727055
GO:0042742IMP-defense response to bacterium21115716
GO:0050829IDA-defense response to Gram-negative bacterium20068036
GO:0050830IDA-defense response to Gram-positive bacterium20068036
GO:0061844IMP-antimicrobial humoral immune response mediated by antimicrobial peptide9727055
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
DEFB4ADEFB4A10803710906336 Co-crystal Structure
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
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