Entity Details

Primary name METTL5
Entity type gene
Source Source Link

Details

PrimaryID29081
RefseqGene
SymbolMETTL5
Namemethyltransferase 5, N6-adenosine
Chromosome2
Location2q31.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-02-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMETL5_HUMAN

GO terms

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GOName
GO:0003676 nucleic acid binding
GO:0005634 nucleus
GO:0008988 rRNA (adenine-N6-)-methyltransferase activity
GO:0031167 rRNA methylation
GO:0042995 cell projection
GO:0045727 positive regulation of translation
GO:0048863 stem cell differentiation
GO:0098793 presynapse
GO:0098794 postsynapse
GO:1904047 S-adenosyl-L-methionine binding

Diseases

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Disease IDSourceNameDescription
618665 OMIMIntellectual developmental disorder, autosomal recessive 72 (MRT72)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
METTL5ZBTB5BioGRID, IntAct32296183 details
METTL5TRMT112BioGRID, IntAct32296183 details
METTL5THUMPD3BioGRID26344197 details