AutismKB 2.0

Annotation Details for HOXD8


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Basic Information Top
Gene Symbol:HOXD8 ( HOX4,HOX4E,HOX5.4 )
Gene Full Name: homeobox D8
Band: 2q31.1
Quick LinksEntrez ID:3234; OMIM: 142985; Uniprot ID:HXD8_HUMAN; ENSEMBL ID: ENSG00000175879; HGNC ID: 5139
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634NAS-nucleus2568311
GO ID Evidence Qualifier GO_term References
GO:0000977IDA-RNA polymerase II regulatory region sequence-specific DNA binding1756725
GO:0001228IDA-transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding1756725
GO ID Evidence Qualifier GO_term References
GO:0000122IEA-negative regulation of transcription from RNA polymerase II promoter-
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0008595NAS-anterior/posterior axis specification, embryo2568311
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter1756725
GO:0048705IEA-skeletal system morphogenesis-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HOXD8HMGB11094748890171 Reconstituted Complex
HOXD8HMGB11093898890171 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:96209
  • 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


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