NT5C2 5'-nucleotidase, cytosolic II
Gene ID: 22978, updated on 7-Apr-2024Gene type: protein coding
Also known as: GMP; NT5B; PNT5; SPG45; SPG65; cN-II
- See all available tests in GTR for this gene
- Go to complete Gene record for NT5C2
- Go to Variation Viewer for NT5C2 variants
Summary
This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A comprehensive family-based replication study of schizophrenia genes. GeneReviews: Not available | |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. GeneReviews: Not available | |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available | |
| Genome-wide association study identifies eight loci associated with blood pressure. GeneReviews: Not available | |
| Genome-wide association study identifies five new schizophrenia loci. GeneReviews: Not available | |
| Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. GeneReviews: Not available | |
| Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. GeneReviews: Not available | |
| Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci. GeneReviews: Not available | |
| Hereditary spastic paraplegia 45 | See labs |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available | |
| Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. GeneReviews: Not available | |
| Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. GeneReviews: Not available |
Genomic context
- Location:
- 10q24.32-q24.33
- Sequence:
- Chromosome: 10; NC_000010.11 (103088017..103193272, complement)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NT5C2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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