MACROD2 mono-ADP ribosylhydrolase 2
Gene ID: 140733, updated on 13-Oct-2024Gene type: protein coding
Also known as: C2orf133; C20orf133
- See all available tests in GTR for this gene
- Go to complete Gene record for MACROD2
- Go to Variation Viewer for MACROD2 variants
Summary
The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. GeneReviews: Not available | |
| A genome-wide scan for common alleles affecting risk for autism. GeneReviews: Not available | |
| Common body mass index-associated variants confer risk of extreme obesity. GeneReviews: Not available | |
| Genetic variants associated with disordered eating. GeneReviews: Not available | |
| Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. GeneReviews: Not available | |
| Genome-wide association study identifies candidate genes for male fertility traits in humans. GeneReviews: Not available | |
| Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. GeneReviews: Not available | |
| Genome-wide association study of antiphospholipid antibodies. GeneReviews: Not available | |
| Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Two-marker association tests yield new disease associations for coronary artery disease and hypertension. GeneReviews: Not available |
Genomic context
- Location:
- 20p12.1
- Sequence:
- Chromosome: 20; NC_000020.11 (13995516..16053197)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MACROD2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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