AutismKB 2.0

Annotation Details for NKX2-8


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Basic Information Top
Gene Symbol:NKX2-8 ( NKX2.8,NKX2H,Nkx2-9 )
Gene Full Name: NK2 homeobox 8
Band: 14q13.3
Quick LinksEntrez ID:26257; OMIM: 603245; Uniprot ID:NKX28_HUMAN; ENSEMBL ID: ENSG00000136327; HGNC ID: 16364
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005575ND-cellular_component-
GO:0005634IEA-nucleus-
GO ID Evidence Qualifier GO_term References
GO:0000978IDA-RNA polymerase II core promoter proximal region sequence-specific DNA binding12167706
GO:0001077IDA-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding12167706
GO:0003690IDA-double-stranded DNA binding9446603
GO:0003700IDA-transcription factor activity, sequence-specific DNA binding9446603
GO:0043565IDA-sequence-specific DNA binding12167706
GO ID Evidence Qualifier GO_term References
GO:0001889NAS-liver development9446603
GO:0006351IDA-transcription, DNA-templated9446603
GO:0006366IDA-transcription from RNA polymerase II promoter9446603
GO:0007409IEA-axonogenesis-
GO:0030324IEA-lung development-
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter12167706
GO:0050680IEA-negative regulation of epithelial cell proliferation-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1270158
  • Data Attributes: MGI curated and 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