Entity Details

Primary name DENND5A
Entity type gene
Source Source Link

Details

PrimaryID23258
RefseqGeneNG_053019
SymbolDENND5A
NameDENN domain containing 5A
Chromosome11
Location11p15.4
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDEN5A_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0010977 negative regulation of neuron projection development
GO:0042147 retrograde transport, endosome to Golgi

Diseases

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Disease IDSourceNameDescription
617281 OMIMDevelopmental and epileptic encephalopathy 49 (DEE49)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features. The disease is caused by variants affecting the gene represented in this entry.