AutismKB 2.0

Annotation Details for SFTPB


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Basic Information Top
Gene Symbol:SFTPB ( PSP-B,SFTB3,SFTP3,SMDP1,SP-B )
Gene Full Name: surfactant protein B
Band: 2p11.2
Quick LinksEntrez ID:6439; OMIM: 178640; Uniprot ID:PSPB_HUMAN; ENSEMBL ID: ENSG00000168878; HGNC ID: 10801
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IBA-extracellular space-
GO:0005654TAS-nucleoplasm-
GO:0005764IEA-lysosome-
GO:0005771IBA-multivesicular body-
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0042599TAS-lamellar body-
GO:0045334TAS-clathrin-coated endocytic vesicle-
GO:0097208IBA-alveolar lamellar body-
GO:0097486TAS-multivesicular body lumen-
GO ID Evidence Qualifier GO_term References
GO:0001664IBA-G-protein coupled receptor binding-
GO:0008047IBA-enzyme activator activity-
GO ID Evidence Qualifier GO_term References
GO:0006665IEA-sphingolipid metabolic process-
GO:0007585IEA-respiratory gaseous exchange-
GO:0009887TAS-animal organ morphogenesis10378403
GO:0043085IEA-positive regulation of catalytic activity-
GO:0044267TAS-cellular protein metabolic process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109516
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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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