METTL5 (methyltransferase 5, N6-adenosine)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29081
Gene name Gene Name - the full gene name approved by the HGNC.
Methyltransferase 5, N6-adenosine
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
METTL5
Synonyms (NCBI Gene) Gene synonyms aliases
HSPC133, MRT72
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1573972562 CT>- Pathogenic Coding sequence variant, frameshift variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0003676 Function Nucleic acid binding IEA
GO:0005515 Function Protein binding IPI 31328227, 32296183, 34948388, 35033535
GO:0005634 Component Nucleus IDA 31564433
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618628 25006 ENSG00000138382
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9NRN9
Protein name rRNA N(6)-adenosine-methyltransferase METTL5 (EC 2.1.1.-) (Methyltransferase-like protein 5)
Protein function Catalytic subunit of a heterodimer with TRMT112, which specifically methylates the 6th position of adenine in position 1832 of 18S rRNA (PubMed:31328227, PubMed:32217665, PubMed:33357433, PubMed:33428944, PubMed:35033535). N6-methylation of aden
PDB 6H2U , 6H2V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05175 MTS 35 → 177 Methyltransferase small domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed from very early development (8 post-conceptual weeks) and expression persists through adulthood in multiple substructures of the brain, including the cerebellar cortex, hippocampus, and striatum. {ECO:0000269|PubMed:31564433}
Sequence
Sequence length 209
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Intellectual Developmental Disorder Intellectual developmental disorder, autosomal recessive 72 rs1573965358, rs1573972562 N/A
Mental retardation Intellectual disability, severe rs1573965358, rs1573972562 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly autosomal recessive primary microcephaly N/A N/A GenCC
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34517547
Carcinogenesis Associate 37400463
Carcinoma Hepatocellular Stimulate 37400463
Colorectal Neoplasms Associate 37194014
Endometrial Neoplasms Associate 35166644
Facial Dysmorphism with Multiple Malformations Associate 31564433
Glioblastoma Associate 37061119
Growth Disorders Associate 36305450
Intellectual Disability Associate 31564433, 36305450
Microcephaly Associate 31564433, 36305450