Entity Details

Primary name ERMARD
Entity type gene
Source Source Link

Details

PrimaryID55780
RefseqGeneNG_033842
SymbolERMARD
NameER membrane associated RNA degradation
Chromosome6
Location6q27
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEMARD_HUMAN

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0007275 multicellular organism development
GO:0016021 integral component of membrane

Diseases

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Disease IDSourceNameDescription
615544 OMIMPeriventricular nodular heterotopia 6 (PVNH6)A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
ERMARDHNRNPLBioGRID28611215 details