RAD21 Cohesin Complex Component
Key regulator of sister chromatid cohesion, DNA repair, and transcriptional control
Gene Information Card
| Symbol | RAD21 |
|---|---|
| Full Name | RAD21 Cohesin Complex Component |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.11 |
| NCBI Gene ID | 5885 ncbi.nlm.nih.gov/gene/5885 |
| Ensembl ID | ENSG00000164754 |
| UniProt ID | O60216 |
| OMIM ID | 606462 |
| HGNC ID | 9811 |
| Aliases | SCC1, MCD1, NXP1, hHR21, KIAA0078 |
Description
RAD21 encodes a key component of the cohesin complex, which mediates sister chromatid cohesion during mitosis and meiosis, facilitates DNA double-strand break repair via homologous recombination, and regulates gene expression through chromatin looping. Mutations in RAD21 cause Cornelia de Lange syndrome type 4 (CdLS4) and are associated with various cancers, including colorectal and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cornelia de Lange syndrome 4 (CdLS4) | Loss-of-function mutations impair cohesin complex assembly, leading to developmental defects | OMIM #614701; multiple case reports |
| Colorectal cancer | Somatic mutations and reduced expression disrupt cohesion and DNA repair, promoting genomic instability | COSMIC; TCGA data |
| Breast cancer | RAD21 overexpression correlates with poor prognosis; altered cohesion contributes to aneuploidy | ClinVar; literature |
| Acute myeloid leukemia (AML) | Recurrent deletions and mutations in RAD21 are found in AML, impairing hematopoiesis | COSMIC; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 18.2 | Medium |
| Lymph node | 15.1 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 22.4 | High expression |
| HeLa (cervical) | 19.8 | Medium expression |
| HepG2 (liver) | 7.2 | Low expression |
| MCF7 (breast) | 14.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1846C>T (p.Arg616*) | Nonsense | <0.1% | Loss of function; truncation of C-terminal domain |
| c.1430A>G (p.Tyr477Cys) | Missense | <0.01% | Impaired cohesin loading |
| c.1135_1136del (p.Leu379fs) | Frameshift | <0.1% | Loss of function; premature termination |
| c.1685G>A (p.Arg562Gln) | Missense | <0.01% | Reduced DNA repair efficiency |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that truncate or destabilize RAD21, leading to haploinsufficiency or non-functional protein. Associated with CdLS4 and cancer.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may confer proliferative advantage but not a classical gain-of-function mutation.
Dominant Negative (DN)
Missense mutations (e.g., p.Tyr477Cys) that disrupt cohesin complex assembly without complete loss of wild-type allele, interfering with normal function.
View complete mutation data：
Gene Ontology (GO)
| • sister chromatid cohesion (GO:0007062) | • double-strand break repair (GO:0006302) |
| • nucleus (GO:0005634) | • zinc ion binding (GO:0008270) |
| • condensed nuclear chromosome (GO:0000794) |
Pathways
• Cell cycle – sister chromatid cohesion (Reactome: R-HSA-1500620)
• Homologous recombination repair of double-strand breaks (Reactome: R-HSA-5693565)
• Cohesin loading onto chromatin (Reactome: R-HSA-2470946)
Protein Summary
RAD21 is a 631-amino acid nuclear phosphoprotein that serves as the central subunit of the cohesin complex, forming a ring-like structure with SMC1A, SMC3, and STAG proteins. It is essential for sister chromatid cohesion from S phase through anaphase, and is cleaved by separase at the metaphase-to-anaphase transition. Beyond mitosis, RAD21 participates in DNA damage repair by facilitating homologous recombination and influences gene expression by mediating long-range chromatin interactions. Post-translational modifications, including phosphorylation and SUMOylation, regulate its stability and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD21L1 Knockout HEK293 Cell Line | EDJ-KQ14985 | Human | 642636 | Details Get a Quote |
| RAD21L1 Knockout HeLa Cell Line | EDJ-KQ60530 | Human | 642636 | Details Get a Quote |
| RAD21L1 Knockout A-549 Cell Line | EDJ-KQ69000 | Human | 642636 | Details Get a Quote |
| RAD21L1 Knockout HCT 116 Cell Line | EDJ-KQ77358 | Human | 642636 | Details Get a Quote |
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