AutismKB 2.0

Annotation Detail for SH2B2


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Basic Information Top
Gene Symbol:SH2B2 ( APS )
Gene Full Name: SH2B adaptor protein 2
Band: 7q22.1
Quick LinksEntrez ID:10603; OMIM: 605300; Uniprot ID:SH2B2_HUMAN; ENSEMBL ID: ENSG00000160999; HGNC ID: 17381
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
629Phosphotyrosine.
Location(AA) Modifications Resource
629Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
52Phosphotyrosine(Syk)HMM predict
52Phosphotyrosine(INSR)HMM predict
117PhosphoserineHMM predict
118Phosphoserine(CK1)HMM predict
157Phosphoserine(PKG)HMM predict
384Phosphoserine(CDK)HMM predict
384Phosphoserine(CDC2)HMM predict
393N-linkedHMM predict
394N-linkedHMM predict
470Phosphoserine(CK1)HMM predict
527PhosphothreonineHMM predict
527Phosphothreonine(MAPK)HMM predict
527O-linkedHMM predict
527O-linkedHMM predict
527O-linkedHMM predict
559O-linkedHMM predict
561O-linkedHMM predict
570O-linkedHMM predict
573Phosphoserine(CK1)HMM predict
578Phosphoserine(IKK)HMM predict
596Phosphoserine(PKB)HMM predict
596Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-200b hsa-mir-200b 1 20498046
hsa-miR-200b* hsa-mir-200b 1 20498046
hsa-miR-214 hsa-mir-214 1 20498046
hsa-miR-214* hsa-mir-214 1 20498046
No data
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