AutismKB 2.0

Annotation Details 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
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005737NAS-cytoplasm17185750
GO:0005829IDA-cytosol-
GO:0005886IDA-plasma membrane-
GO:0030018ISS-Z disc21940993
GO:0030315NAS-T-tubule17185750
GO:0030659ISS-cytoplasmic vesicle membrane21940993
GO:0042383NAS-sarcolemma17185750
GO:0043034ISS-costamere21940993
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding17185750
GO ID Evidence Qualifier GO_term References
GO:0001778ISSNOTplasma membrane repair21940993
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2144831
  • Data Attributes: HomoloGene calculated
No data
No data

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