AutismKB

Annotation Detail for POU6F2


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Basic Information Top
Gene Symbol:POU6F2 ( RPF-1,WT5,WTSL )
Gene Full Name: POU class 6 homeobox 2
Band: 7p14.1
Quick LinksEntrez ID:11281; OMIM: 609062; Uniprot ID:PO6F2_HUMAN; ENSEMBL ID: ENSG00000106536
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IC-nucleus8601806
GO:0005634IDA-nucleus18029348
GO ID Evidence Qualifier GO_term References
GO:0003700TAS-sequence-specific DNA binding transcription factor activity8601806
GO:0043565IEA-sequence-specific DNA binding-
GO ID Evidence Qualifier GO_term References
GO:0006355TAS-regulation of transcription, DNA-dependent8601806
GO:0006366TAS-transcription from RNA polymerase II promoter8601806
GO:0007402TAS-ganglion mother cell fate determination8601806
GO:0007417TAS-central nervous system development8601806
GO:0007601TAS-visual perception8601806
Protein-Protein Interaction Top
Genomic Variants Top
No data
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_28640 chr7:39046238-39046238 17803354 Sequencing 1 0 1- 1 control sample (HuRef) POU6F2
Variation_109217 chr7:39353791-39354407 20482838 Sequence trace read mapping 0 1 1- 1 control sample (J. Craig Venter) POU6F2
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2443631
  • Data Attributes: HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:3826835Pou6f2[tm1Nat]Allele from Mouse Targeted (knock-out)
  • normal phenotype
No data
No data

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  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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