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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RAD21
RAD21 cohesin complex component
Chromosome 8 Β· 8q24.11
NCBI Gene: 5885Ensembl: ENSG00000164754.17HGNC: HGNC:9811UniProt: O60216
228PubMed Papers
22Diseases
0Drugs
59Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membranenucleoplasmprotein localization to chromatinpositive regulation of sister chromatid cohesionCornelia de Lange syndromeMungan syndromegenetic disorderacute myeloid leukemia
✦AI Summary

RAD21 is a core structural component of the cohesin complex essential for maintaining chromosome 8 and gene regulation. Functionally, RAD21 mediates sister chr8 cohesion during mitosis and meiosis by stabilizing loop domains through interaction with CTCF 1. RAD21 occupancy can be analyzed at single-cell resolution to map transcription factor binding patterns across chr8 2. Beyond canonical cohesion, RAD21 contains a speckle-targeting motif required for chr8-nuclear speckle association, which regulates gene inducibility 3. RAD21 also binds to cohesin's SA2 and SCC1 subunits, sharing this interface with SGO1 to protect centromeric cohesin during mitosis 4. Clinically, RAD21 mutations cause Cornelia de Lange Syndrome (CdLS), a developmental disorder characterized by growth retardation, limb involvement, and cardiac/gastrointestinal manifestations 56. RAD21 variants produce less severe phenotypes compared to NIPBL mutations. In cancer, RAD21 amplification promotes immune evasion in ovarian cancer by epigenetically suppressing interferon signaling through interaction with YAP/TEAD4 corepressors and the NuRD complex 7. RAD21 ablation enhanced anti-PD-1 immunotherapy efficacy, suggesting therapeutic potential. These findings establish RAD21 as critical for both normal developmental processes and disease pathogenesis.

Sources cited
1
RAD21-mediated cohesin creates loop domains through CTCF-cohesin tethering; cohesin loss eliminates loop domains and affects gene regulation
PMID: 28985562
2
RAD21 chromatin occupancy can be profiled at single-cell resolution using CUT&Tag technology
PMID: 33846645
3
RAD21 contains a speckle-targeting motif required for chromatin-nuclear speckle association and gene inducibility; disrupted in CdLS patient cells
PMID: 39984730
4
RAD21 (SCC1) forms a binding interface with SGO1 and SA2 subunit to protect centromeric cohesin during mitosis
PMID: 37081319
5
RAD21 mutations cause Cornelia de Lange Syndrome with variable developmental and systemic manifestations; less severe than NIPBL mutations
PMID: 37377026
6
RAD21 as cohesin component involved in cohesinopathies; functions extend beyond sister chromatid cohesion to transcriptional regulation
PMID: 31516082
7
RAD21 amplification in ovarian cancer suppresses interferon signaling through YAP/TEAD4-NuRD complex; RAD21 ablation enhances anti-PD-1 immunotherapy
PMID: 36201246
Disease Associationsβ“˜22
Cornelia de Lange syndromeOpen Targets
0.77Strong
Mungan syndromeOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.50Moderate
acute myeloid leukemiaOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
Septo-optic dysplasiaOpen Targets
0.37Weak
septooptic dysplasiaOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.30Weak
squamous cell lung carcinomaOpen Targets
0.30Weak
bone fractureOpen Targets
0.30Weak
non-small cell lung carcinomaOpen Targets
0.30Weak
urinary bladder carcinomaOpen Targets
0.30Weak
esophageal squamous cell carcinomaOpen Targets
0.30Weak
Cornelia de Lange syndrome 4 with or without midline brain defectsUniProt
Mungan syndromeUniProt
Pathogenic Variants59
NM_006265.3(RAD21):c.144+1G>APathogenic
Cornelia de Lange syndrome 4|not provided
β˜…β˜…β˜†β˜†2025
NM_006265.3(RAD21):c.1432C>T (p.Arg478Ter)Pathogenic
Cornelia de Lange syndrome 4|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 478
NM_006265.3(RAD21):c.1635del (p.Gly547fs)Pathogenic
Cornelia de Lange syndrome 4|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 547
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del)Pathogenic
Cornelia de Lange syndrome 4|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 592
NM_006265.3(RAD21):c.193C>T (p.Arg65Ter)Pathogenic
Cornelia de Lange syndrome 4|RAD21-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 65
NM_006265.3(RAD21):c.1306C>T (p.Gln436Ter)Pathogenic
not provided|Cornelia de Lange syndrome 4
β˜…β˜…β˜†β˜†2019β†’ Residue 436
NM_006265.3(RAD21):c.1222G>T (p.Gly408Ter)Pathogenic
Inborn genetic diseases|Cornelia de Lange syndrome 4
β˜…β˜…β˜†β˜†2018β†’ Residue 408
NM_006265.3(RAD21):c.447dup (p.Gly150fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 150
NM_006265.3(RAD21):c.622_623insGGTT (p.His208fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 208
NM_006265.3(RAD21):c.391C>T (p.Gln131Ter)Likely pathogenic
Cornelia de Lange syndrome 4
β˜…β˜†β˜†β˜†2025β†’ Residue 131
NM_006265.3(RAD21):c.274G>A (p.Gly92Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 92
NM_006265.3(RAD21):c.1816C>T (p.Gln606Ter)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 606
NM_006265.3(RAD21):c.1847C>T (p.Pro616Leu)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 616
NM_006265.3(RAD21):c.660del (p.Phe220fs)Pathogenic
Cornelia de Lange syndrome 1
β˜…β˜†β˜†β˜†2024β†’ Residue 220
NM_006265.3(RAD21):c.877C>T (p.Gln293Ter)Likely pathogenic
Cornelia de Lange syndrome 4
β˜…β˜†β˜†β˜†2024β†’ Residue 293
NM_006265.3(RAD21):c.814+2T>CLikely pathogenic
Cornelia de Lange syndrome 4
β˜…β˜†β˜†β˜†2024
NM_006265.3(RAD21):c.68G>A (p.Trp23Ter)Pathogenic
Cornelia de Lange syndrome 4
β˜…β˜†β˜†β˜†2024β†’ Residue 23
NM_006265.3(RAD21):c.589C>T (p.Gln197Ter)Pathogenic
Cornelia de Lange syndrome 4
β˜…β˜†β˜†β˜†2024β†’ Residue 197
NM_006265.3(RAD21):c.839C>G (p.Ser280Ter)Pathogenic
Cornelia de Lange syndrome 4
β˜…β˜†β˜†β˜†2024β†’ Residue 280
NM_006265.3(RAD21):c.1756C>T (p.Arg586Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 586
View on ClinVar β†—
Related Genes
PDS5AProtein interaction100%NCAPGProtein interaction100%SMC2Protein interaction100%NCAPD2Protein interaction100%DSCC1Protein interaction100%NSMCE3Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
88%
Heart
60%
Lung
31%
Ovary
29%
Liver
19%
Gene Interaction Network
Click a node to explore
RAD21PDS5ANCAPGSMC2NCAPD2DSCC1NSMCE3
PROTEIN STRUCTURE
Preparing viewer…
PDB8ROE Β· 1.36 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.13–0.34]
RankingsWhere RAD21 stands among ~20K protein-coding genes
  • #1,771of 20,598
    Most Researched228 Β· top 10%
  • #1,183of 5,498
    Most Pathogenic Variants59 Β· top quartile
  • #1,475of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedRAD21
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Single-cell CUT&Tag profiles histone modifications and transcription factors in complex tissues.
PMID: 33846645
Nat Biotechnol Β· 2021
1.00
2
Cohesin Loss Eliminates All Loop Domains.
PMID: 28985562
Cell Β· 2017
0.90
3
RAD21 amplification epigenetically suppresses interferon signaling to promote immune evasion in ovarian cancer.
PMID: 36201246
J Clin Invest Β· 2022
0.80
4
Cornelia de Lange Spectrum.
PMID: 38735830
An Pediatr (Engl Ed) Β· 2024
0.72
5
The expanding phenotypes of cohesinopathies: one ring to rule them all!
PMID: 31516082
Cell Cycle Β· 2019
0.70