Entity Details

Primary name IRF2BPL
Entity type gene
Source Source Link

Details

PrimaryID64207
RefseqGene
SymbolIRF2BPL
Nameinterferon regulatory factor 2 binding protein like
Chromosome14
Location14q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-12-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsI2BPL_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0003714 transcription corepressor activity
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007399 nervous system development
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046543 development of secondary female sexual characteristics
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity

Diseases

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Disease IDSourceNameDescription
618088 OMIMNeurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS)An autosomal dominant disorder characterized by global developmental delay or neurodevelopmental regression, hypotonia, progressive ataxia, intellectual disability, seizures, and abnormal movements. The disease is caused by variants affecting the gene represented in this entry.