AutismKB 2.0

Annotation Detail for AHNAK2


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Basic Information Top
Gene Symbol:AHNAK2 ( C14orf78,KIAA2019 )
Gene Full Name: AHNAK nucleoprotein 2
Band: 14q32.33
Quick LinksEntrez ID:113146; OMIM: 608570; Uniprot ID:AHNK2_HUMAN; ENSEMBL ID: ENSG00000185567; HGNC ID: 20125
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
280Phosphoserine.
294Phosphoserine.
2500N6-acetyllysine.
Location(AA) Modifications Resource
No data
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