Rad21 Cohesin Complex Component

Alternative Names

  • Rad21
  • Rad21, S. pombe, Homolog of
  • Nuclear Matrix Protein 1
  • NXP1
  • Sister Chromatid Cohesion 1
  • SCC1
  • HR21
  • KIAA0078
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OMIM Number

606462

NCBI Gene ID

5885

Uniprot ID

O60216

Length

28,843 bases

No. of Exons

14

No. of isoforms

1

Protein Name

Double-strand-break repair protein rad21 homolog

Molecular Mass

71690 Da

Amino Acid Count

631

Genomic Location

chr8:116,845,933-116,874,775

Gene Map Locus
8q24.11

Description

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. [From RefSeq]

Molecular Genetics

The RAD21 gene is located on the long arm of chromosome 8. It spans a length of 28.9 kb of DNA and its coding sequence is spread across 14 exons. The gene encodes a 71.6 kDa protein product composed of 631 amino acids. While the gene is ubiquitously expressed in the human body, overexpression is seen in peripheral blood mononuclear cells and lymphocytes. Heterozygous mutations in the RAD21 gene have been linked to CDLS4. At least 8 mutations in the gene have been identified, including missense variants and a large deletion that results in the absence of the gene. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006265.2:c.1432C>TUnited Arab EmiratesNC_000008.11:g.116851986G>ALikely Pathogenic, PathogenicPathogenicCornelia de Lange Syndrome 4NG_032862.1:g.27881C>T; NM_006265.2:c.1432C>T; NP_006256.1:p.Arg478Ter748575266816920

Other Reports

Saudi Arabia

Monies et al. (2017) described the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 4-month-old male, presented with overgrowth, macrocephaly, speech delay, moderate to severe intellectual disability, stereotypic behaviors, ataxia, hypospadias, kidney malformation, renal tubulopathy, ptosis, anorectal malformation and AML. Using a multigene panel for dysmorphology/skeletal dysplasia, a heterozygous mutation (c.68G>A, p.W23X) was identified in exon 2 of the patient’s RAD21 gene, associated with CDLS4. Given the atypical presentation of the patient, this case helped in the phenotypic expansion of the disorder.

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