NUDT2 Chromosome 9
Nudix hydrolase 2
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What This Gene Does
This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Nudix hydrolase family
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000164978
Associated Conditions (4)
Intellectual developmental disorder with or without peripheral neuropathy
NUDT2-associated condition
Intellectual disability
Complex neurodevelopmental disorder
Key Variants
RS148119952
Likely pathogenic
Intellectual developmental disorder with or without peripheral neuropathy, Intellectual developmental disorder with or without peripheral neuropathy
Health Risk
RS772730170
Likely pathogenic
Intellectual developmental disorder with or without peripheral neuropathy, Intellectual developmental disorder with or without peripheral neuropathy
Health Risk
RS529087882
Pathogenic/Likely pathogenic
NUDT2-associated condition, Intellectual disability, Complex neurodevelopmental disorder
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148119952 | Health Risk | Likely pathogenic | Intellectual developmental disorder with or without peripheral neuropathy, Intellectual developmental disorder with or without peripheral neuropathy |
| RS772730170 | Health Risk | Likely pathogenic | Intellectual developmental disorder with or without peripheral neuropathy, Intellectual developmental disorder with or without peripheral neuropathy |
| RS529087882 | Health Risk | Pathogenic/Likely pathogenic | NUDT2-associated condition, Intellectual disability, Complex neurodevelopmental disorder |