AutismKB 2.0

Annotation Details for DEFA1B


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Basic Information Top
Gene Symbol:DEFA1B ( DEFA1,HNP-1,HP-1,HP1 )
Gene Full Name: defensin, alpha 1B
Band: 8p23.1
Quick LinksEntrez ID:728358; OMIM: NA; Uniprot ID:DEF1_HUMAN; ENSEMBL ID: ENSG00000215378; HGNC ID: 33596
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:0031012IDAcolocalizes_withextracellular matrix20551380
GO:0035578TAS-azurophil granule lumen-
GO:0070062IDA-extracellular exosome19199708
No data
GO ID Evidence Qualifier GO_term References
GO:0002227IDA-innate immune response in mucosa12860195
GO:0006935TAS-chemotaxis10914484
GO:0006955TAS-immune response10914484
GO:0019730TAS-antimicrobial humoral response-
GO:0019731IDA-antibacterial humoral response12860195
GO:0030520IDA-intracellular estrogen receptor signaling pathway21861873
GO:0031640IEA-killing of cells of other organism-
GO:0043312TAS-neutrophil degranulation-
GO:0050830IDA-defense response to Gram-positive bacterium12860195
GO:0050832IEA-defense response to fungus-
GO:0051607IEA-defense response to virus-
GO:0061844IDA-antimicrobial humoral immune response mediated by antimicrobial peptide12860195
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