NSUN2 Chromosome 5
NOP2/Sun RNA methyltransferase 2
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What This Gene Does
This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]
Gene Info
Gene Group
"NOP2/Sun RNA methyltransferase family|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
5p15.31
Ensembl
ENSG00000037474
Associated Conditions (7)
Intellectual disability
autosomal recessive 5
Inborn genetic diseases
NSUN2-related disorder
Phenylketonuria
See cases
Autosomal recessive non-syndromic intellectual disability
Key Variants
RS1055478673
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 5, Inborn genetic diseases
Health Risk
RS112951498
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 5, Inborn genetic diseases
Health Risk
RS140467698
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 5, Inborn genetic diseases
Health Risk
RS140673211
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 5, Inborn genetic diseases
Health Risk
RS141802308
Conflicting classifications of pathogenicity
Health Risk
RS141912087
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 5, Inborn genetic diseases
Health Risk
RS147958833
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 5, Inborn genetic diseases
Health Risk
RS150785220
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 5, Inborn genetic diseases
Health Risk
RS186193796
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199959678
Conflicting classifications of pathogenicity
Health Risk
RS200925761
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 5, Intellectual disability
Health Risk
RS372574598
Conflicting classifications of pathogenicity
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2477415556 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2477468201 | Health Risk | Pathogenic | — |
| RS2477507339 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2477508063 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 5, Intellectual disability |
| RS387907190 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 5, Inborn genetic diseases |
| RS387907191 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 5, Intellectual disability |
| RS750141088 | Health Risk | Pathogenic | — |
| RS765756292 | Health Risk | Pathogenic | — |
| RS767983383 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS948524172 | Health Risk | Pathogenic | — |
| RS1041431561 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 5, Intellectual disability |
| RS1221890051 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |
| RS1377452635 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 5, Autosomal recessive non-syndromic intellectual disability |
| RS2126504474 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS762288077 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 5, Intellectual disability |
| RS868442196 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Autosomal recessive non-syndromic intellectual disability, Inborn genetic diseases |