RAD21

Chr 8q24.11

RAD21 cohesin complex component

Aliases:: KIAA0078, hHR21, SCC1
MANE:: ENST00000297338.7

OMIM: 606462 ↗NCBI: 5885 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RAD21 · O60216

v62025-08-01

Predicted Aligned Error matrix for RAD21 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.2/ 100

Low

631 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)17%
Low(50–70)16%
Very low(< 50)47%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

Cornelia de Lange syndrome
0.77
Mungan syndrome
0.54
hereditary disease
0.50
acute myeloid leukemia
0.47
neurodegenerative disease
0.45
lung carcinoma
0.37
hemangioblastoma
0.37
Septo-optic dysplasia
0.37
ovarian endometrioid adenocarcinoma with squamous differentiation
0.37
carcinoma of liver and intrahepatic biliary tract
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Double-strand-break repair protein rad21 homolog

As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosome segregation, post-replicative DNA repair, and the prevention of inappropriate recombination between repetitive regions (PubMed:11509732). The cohesin complex may also play a role in spindle pole assembly during mitosis (PubMed:11590136). In interphase, cohesins may function in the control of gene expression by binding to numerous sites within the genome (By similarity). May control RUNX1 gene expression (Probable). Binds to and represses APOB gene promoter (PubMed:25575569). May play a role in embryonic gut development, possibly through the regulation of enteric neuron development (By similarity)