METTL5 (methyltransferase 5, N6-adenosine)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 29081
Gene name Methyltransferase 5, N6-adenosine
Gene symbol METTL5
Synonyms (NCBI Gene)
HSPC133MRT72
Chromosome 2
Chromosome location 2q31.1
SNPs SNP information provided by dbSNP.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618628 25006 ENSG00000138382
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder, autosomal recessive 72 Pathogenic; Likely pathogenic rs1400976065, rs2528783505, rs2528786778, rs2528784290, rs1573965358, rs1573972562, rs1467526653 RCV002250113
RCV002471330
RCV003988768
RCV003990467
RCV000856617
RCV000856616
RCV001174657
Severe intellectual disability Likely pathogenic; Pathogenic rs1573965358, rs1573972562 RCV000850069
RCV000850091
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
METTL5-related disorder Benign rs147266845 RCV003961682
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease 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