RAD21 Chromosome 8
RAD21 cohesin complex component
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What This Gene Does
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]
Gene Info
Gene Group
"Cohesin complex|Kleisins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8q24.11
Ensembl
ENSG00000164754
Associated Conditions (13)
Cornelia de Lange syndrome 4
Inborn genetic diseases
Mungan syndrome
RAD21-related disorder
Thyroid cancer
nonmedullary
1
Uterine corpus endometrial carcinoma
Lung cancer
Intellectual disability
See cases
De Lange syndrome
Acute megakaryoblastic leukemia in down syndrome
Key Variants
RS1051321465
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 4, Inborn genetic diseases, Cornelia de Lange syndrome 4
Health Risk
RS1202371552
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cornelia de Lange syndrome 4, Inborn genetic diseases
Health Risk
RS138040512
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 4, Inborn genetic diseases, Cornelia de Lange syndrome 4
Health Risk
RS139935751
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
Health Risk
RS1445148501
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cornelia de Lange syndrome 4, Inborn genetic diseases
Health Risk
RS144953114
Conflicting classifications of pathogenicity
Mungan syndrome, Cornelia de Lange syndrome 4, Inborn genetic diseases
Health Risk
RS199767556
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 4, Inborn genetic diseases, Cornelia de Lange syndrome 4
Health Risk
RS200852626
Conflicting classifications of pathogenicity
RAD21-related disorder, Cornelia de Lange syndrome 4, RAD21-related disorder
Health Risk
RS2130479466
Conflicting classifications of pathogenicity
RAD21-related disorder, Inborn genetic diseases, RAD21-related disorder
Health Risk
RS373625369
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 4, Inborn genetic diseases, Cornelia de Lange syndrome 4
Health Risk
RS387907213
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
Health Risk
RS61737172
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1051321465 | Health Risk | Conflicting classifications of pathogenicity | Cornelia de Lange syndrome 4, Inborn genetic diseases, Cornelia de Lange syndrome 4 |
| RS1202371552 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cornelia de Lange syndrome 4, Inborn genetic diseases |
| RS138040512 | Health Risk | Conflicting classifications of pathogenicity | Cornelia de Lange syndrome 4, Inborn genetic diseases, Cornelia de Lange syndrome 4 |
| RS139935751 | Health Risk | Conflicting classifications of pathogenicity | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1445148501 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cornelia de Lange syndrome 4, Inborn genetic diseases |
| RS144953114 | Health Risk | Conflicting classifications of pathogenicity | Mungan syndrome, Cornelia de Lange syndrome 4, Inborn genetic diseases |
| RS199767556 | Health Risk | Conflicting classifications of pathogenicity | Cornelia de Lange syndrome 4, Inborn genetic diseases, Cornelia de Lange syndrome 4 |
| RS200852626 | Health Risk | Conflicting classifications of pathogenicity | RAD21-related disorder, Cornelia de Lange syndrome 4, RAD21-related disorder |
| RS2130479466 | Health Risk | Conflicting classifications of pathogenicity | RAD21-related disorder, Inborn genetic diseases, RAD21-related disorder |
| RS373625369 | Health Risk | Conflicting classifications of pathogenicity | Cornelia de Lange syndrome 4, Inborn genetic diseases, Cornelia de Lange syndrome 4 |
| RS387907213 | Health Risk | Conflicting classifications of pathogenicity | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS61737172 | Health Risk | Conflicting classifications of pathogenicity | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS746050594 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cornelia de Lange syndrome 4, Thyroid cancer |
| RS750504354 | Health Risk | Conflicting classifications of pathogenicity | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS760261220 | Health Risk | Conflicting classifications of pathogenicity | Cornelia de Lange syndrome 4, Intellectual disability, Cornelia de Lange syndrome 4 |
| RS776397992 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cornelia de Lange syndrome 4, Inborn genetic diseases |
| RS1382274750 | Health Risk | Likely pathogenic | — |
| RS1586268625 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS2130469189 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2130479407 | Health Risk | Likely pathogenic | De Lange syndrome, De Lange syndrome |
| RS2537295426 | Health Risk | Likely pathogenic | RAD21-related disorder, RAD21-related disorder |
| RS2537297841 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS758626942 | Health Risk | Likely pathogenic | Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome |
| RS764118613 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS863224910 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1064793380 | Health Risk | Pathogenic | — |
| RS1164210703 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1352385210 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1411614521 | Health Risk | Pathogenic | Inborn genetic diseases, Cornelia de Lange syndrome 4, Inborn genetic diseases |
| RS1425483905 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1554612093 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1554612096 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1563687901 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1563689416 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1586275911 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1586276006 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1804043 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1812331711 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1812376090 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1812418017 | Health Risk | Pathogenic | — |
| RS1812478613 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1812489768 | Health Risk | Pathogenic | — |
| RS1812515682 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS1812700165 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS2130463115 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS2130469261 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS2130485352 | Health Risk | Pathogenic | — |
| RS2537284941 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS2537292932 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |
| RS2537297690 | Health Risk | Pathogenic | Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4 |