AutismKB 2.0

Annotation Detail for PLEKHA2


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Basic Information Top
Gene Symbol:PLEKHA2 ( FLJ25921,TAPP2 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2
Band: 8p11.22
Quick LinksEntrez ID:59339; OMIM: 607773; Uniprot ID:PKHA2_HUMAN; ENSEMBL ID: ENSG00000169499; HGNC ID: 14336
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
182Phosphoserine (By similarity).
184Phosphoserine.
349Phosphoserine.
Location(AA) Modifications Resource
182Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
161Phosphoserine(ATM)HMM predict
171Phosphoserine(IKK)HMM predict
308Phosphoserine(PKB)HMM predict
308Phosphoserine(IKK)HMM predict
314Phosphoserine(CK1)HMM predict
320Phosphoserine(IKK)HMM predict
321O-linkedHMM predict
324O-linkedHMM predict
325Phosphoserine(CK1)HMM predict
354C-linkedHMM predict
409LysineHMM predict
410ProlineHMM 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