AutismKB 2.0

Annotation Details for DEFB1


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Basic Information Top
Gene Symbol:DEFB1 ( BD1,DEFB-1,DEFB101,HBD1,MGC51822 )
Gene Full Name: defensin, beta 1
Band: 8p23.1
Quick LinksEntrez ID:1672; OMIM: 602056; Uniprot ID:DEFB1_HUMAN; ENSEMBL ID: ENSG00000164825; HGNC ID: 2766
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IDA-extracellular space12860195
GO:0005796TAS-Golgi lumen-
GO:0070062IDA-extracellular exosome23376485
GO:0097225IDA-sperm midpiece25122636
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding25122636
GO:0031731IDA-CCR6 chemokine receptor binding25122636
GO ID Evidence Qualifier GO_term References
GO:0002227IDA-innate immune response in mucosa12860195
GO:0002526IEA-acute inflammatory response-
GO:0006935TAS-chemotaxis10521347
GO:0006955TAS-immune response10521347
GO:0007186TAS-G-protein coupled receptor signaling pathway10521347
GO:0009617IDA-response to bacterium12054642
GO:0009617ISS-response to bacterium-
GO:0019730TAS-antimicrobial humoral response-
GO:0019731IDA-antibacterial humoral response12860195
GO:0019933IDA-cAMP-mediated signaling25122636
GO:0033574IEA-response to testosterone-
GO:0035584IDA-calcium-mediated signaling using intracellular calcium source25122636
GO:0042742IMP-defense response to bacterium21115716
GO:0045087ISS-innate immune response-
GO:0045087NAS-innate immune response12517831
GO:0050829IMP-defense response to Gram-negative bacterium25122636
GO:0050830IDA-defense response to Gram-positive bacterium12860195
GO:0050830IMP-defense response to Gram-positive bacterium25122636
GO:0060474IMP-positive regulation of flagellated sperm motility involved in capacitation25122636
GO:0061844IDA-antimicrobial humoral immune response mediated by antimicrobial peptide12860195
GO:0061844IMP-antimicrobial humoral immune response mediated by antimicrobial peptide25122636
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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  (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