Entity Details

Primary name POU3F3
Entity type gene
Source Source Link

Details

PrimaryID5455
RefseqGene
SymbolPOU3F3
NamePOU class 3 homeobox 3
Chromosome2
Location2q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPO3F3_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007417 central nervous system development
GO:0007588 excretion
GO:0008284 positive regulation of cell population proliferation
GO:0010628 positive regulation of gene expression
GO:0021799 cerebral cortex radially oriented cell migration
GO:0021869 forebrain ventricular zone progenitor cell division
GO:0042803 protein homodimerization activity
GO:0043066 negative regulation of apoptotic process
GO:0043565 sequence-specific DNA binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048878 chemical homeostasis
GO:0071837 HMG box domain binding
GO:0072218 metanephric ascending thin limb development
GO:0072227 metanephric macula densa development
GO:0072233 metanephric thick ascending limb development
GO:0072236 metanephric loop of Henle development
GO:0072240 metanephric DCT cell differentiation

Diseases

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Disease IDSourceNameDescription
618604 OMIMSnijders Blok-Fisher syndrome (SNIBFIS)An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability, autistic features, impairments in speech and language skills, and dysmorphic features including abnormal, cupped, or prominent ears and ocular anomalies. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions