RAD21 RAD21 cohesin complex component
Gene ID: 5885, updated on 11-Apr-2024Gene type: protein coding
Also known as: MGS; HR21; MCD1; NXP1; SCC1; CDLS4; hHR21; HRAD21
- See all available tests in GTR for this gene
- Go to complete Gene record for RAD21
- Go to Variation Viewer for RAD21 variants
Summary
The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cornelia de Lange syndrome 4 | See labs |
| De Lange syndrome MedGen: C0270972GeneReviews: Cornelia de Lange Syndrome | See labs |
| Mungan syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-03-08) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2022-03-08) ClinGen Genome Curation Page |
Genomic context
- Location:
- 8q24.11
- Sequence:
- Chromosome: 8; NC_000008.11 (116845934..116874776, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RAD21 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
- RAD21 database
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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