RAD21

Chr 8

RAD21 cohesin complex component

Also known as: CDLS4, HR21, HRAD21, MCD1, MGS, NXP1, SCC1, hHR21

NCBI Gene: 5885 ENSG00000164754 UniProt: O60216

This gene encodes a nuclear phosphoprotein that mediates sister chromatid cohesion during mitosis and is involved in DNA double-strand break repair. Loss-of-function mutations cause Cornelia de Lange syndrome 4 and Mungan syndrome through both autosomal dominant and autosomal recessive inheritance patterns. The protein becomes hyperphosphorylated during M phase and associates with mitotic chromatin at centromere regions.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCornelia de Lange syndrome 4 with or without midline brain defects

UniProtMungan syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Cornelia de Lange syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

100

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.26

LOEUF· LoF intol.

LOF

Mechanism· G2P

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