SMC5 structural maintenance of chromosomes 5
Gene ID: 23137, updated on 17-Jun-2024Gene type: protein coding
Also known as: ATELS2; SMC5L1
- See all available tests in GTR for this gene
- Go to complete Gene record for SMC5
- Go to Variation Viewer for SMC5 variants
Summary
Predicted to enable ATP binding activity. Involved in several processes, including DNA recombination; cellular senescence; and positive regulation of maintenance of mitotic sister chromatid cohesion. Located in cell junction; chromosome; and nuclear body. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Atelis syndrome 2 | not available |
Genomic context
- Location:
- 9q21.12
- Sequence:
- Chromosome: 9; NC_000009.12 (70258978..70354873)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SMC5 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
- Variation ViewerRelated Variants
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