AutismKB 2.0

Annotation Detail for SFTPB


View Evidences View Variants View Annotations
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
Post Translation Modification Top
Location(AA) Modification
129N-linked (GlcNAc...) (Potential).
311N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
129N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
311N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
27O-linkedHMM predict
28O-linkedHMM predict
129N-linkedHMM predict
134N-linkedHMM predict
287Phosphoserine(CDK)HMM predict
287Phosphoserine(CDC2)HMM predict
289Phosphothreonine(PKC)HMM predict
304Phosphoserine(CK1)HMM predict
311N-linkedHMM predict
375S-farnesylHMM predict
378SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation 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