METTL5 Chromosome 2
Methyltransferase 5, N6-adenosine
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What This Gene Does
Enables S-adenosyl-L-methionine binding activity and rRNA (adenine-N6-)-methyltransferase activity. Involved in positive regulation of translation and rRNA methylation. Located in several cellular components, including fibrillar center; postsynapse; and presynapse. Implicated in autosomal recessive intellectual developmental disorder 72. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"7BS N6-adenosine DNA/RNA methyltransferases|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000138382
Associated Conditions (3)
Intellectual developmental disorder
autosomal recessive 72
Severe intellectual disability
Key Variants
RS760916142
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder
Health Risk
RS771318766
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder
Health Risk
RS2528783505
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder
Health Risk
RS2528784290
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder
Health Risk
RS1400976065
Pathogenic
Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder
Health Risk
RS1573972562
Pathogenic
Severe intellectual disability, Intellectual developmental disorder, autosomal recessive 72
Health Risk
RS2528786778
Pathogenic
Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder
Health Risk
RS1467526653
Pathogenic/Likely pathogenic
Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder
Health Risk
RS1573965358
Pathogenic/Likely pathogenic
Severe intellectual disability, Intellectual developmental disorder, autosomal recessive 72
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760916142 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder |
| RS771318766 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder |
| RS2528783505 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder |
| RS2528784290 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder |
| RS1400976065 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder |
| RS1573972562 | Health Risk | Pathogenic | Severe intellectual disability, Intellectual developmental disorder, autosomal recessive 72 |
| RS2528786778 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder |
| RS1467526653 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder, autosomal recessive 72, Intellectual developmental disorder |
| RS1573965358 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual disability, Intellectual developmental disorder, autosomal recessive 72 |