Gene Gene information from NCBI Gene database.
Entrez ID 5885
Gene name RAD21 cohesin complex component
Gene symbol RAD21
Synonyms (NCBI Gene)
CDLS4HR21HRAD21MCD1MGSNXP1SCC1hHR21
Chromosome 8
Chromosome location 8q24.11
Summary 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-protei
SNPs SNP information provided by dbSNP.
19
SNP ID Visualize variation Clinical significance Consequence
rs387907212 G>C Pathogenic Coding sequence variant, missense variant
rs387907213 A>G Pathogenic Coding sequence variant, missense variant
rs748575266 G>A,C Pathogenic Missense variant, coding sequence variant, stop gained
rs775266057 C>T Pathogenic Missense variant, coding sequence variant
rs797045907 GCTAGCC>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
838
miRTarBase ID miRNA Experiments Reference
MIRT024779 hsa-miR-215-5p Microarray 19074876
MIRT026196 hsa-miR-192-5p Microarray 19074876
MIRT052491 hsa-let-7a-5p CLASH 23622248
MIRT045808 hsa-miR-191-5p CLASH 23622248
MIRT469637 hsa-miR-122-5p PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CTCF Unknown 19826084
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000775 Component Chromosome, centromeric region TAS
GO:0000785 Component Chromatin IEA
GO:0000794 Component Condensed nuclear chromosome IEA
GO:0000922 Component Spindle pole IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606462 9811 ENSG00000164754
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60216
Protein name Double-strand-break repair protein rad21 homolog (hHR21) (Nuclear matrix protein 1) (NXP-1) (SCC1 homolog) [Cleaved into: 64-kDa C-terminal product (64-kDa carboxy-terminal product) (65-kDa carboxy-terminal product)]
Protein function [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 ch
PDB 4PJU , 4PJW , 4PK7 , 6QNX , 6RRC , 6RRK , 6WG3 , 6WGE , 7W1M , 7ZJS , 8K4D , 8P0A , 8PQ5 , 8RO6 , 8RO7 , 8RO8 , 8RO9 , 8ROA , 8ROB , 8ROC , 8ROD , 8ROE , 8ROF , 8ROG , 8ROH , 8ROI , 8ROJ , 8ROK , 8ROL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04825 Rad21_Rec8_N 1 107 N terminus of Rad21 / Rec8 like protein Family
PF04824 Rad21_Rec8 574 628 Conserved region of Rad21 / Rec8 like protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the gut (at protein level). {ECO:0000269|PubMed:25575569}.
Sequence
MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLL
LGVVRIYHRKAKYLLADCNEAFIKIKMAFRPGVVDLPEENREAAYNA
ITLPEEFHDFDQP
LPDLDDIDVAQQFSLNQSRVEEITMREEVGNISILQENDFGDFGMDDREIMREGSAFEDD
DMLVSTTTSNLLLESEQSTSNLNEKINHLEYEDQYKDDNFGEGNDGGILDDKLISNNDGG
IFDDPPALSEAGVMLPEQPAHDDMDEDDNVSMGGPDSPDSVDPVEPMPTMTDQTTLVPNE
EEAFALEPIDITVKETKAKRKRKLIVDSVKELDSKTIRAQLSDYSDIVTTLDLAPPTKKL
MMWKETGGVEKLFSLPAQPLWNNRLLKLFTRCLTPLVPEDLRKRRKGGEADNLDEFLKEF
ENPEVPREDQQQQHQQRDVIDEPIIEEPSRLQESVMEASRTNIDESAMPPPPPQGVKRKA
GQIDPEPVMPPQQVEQMEIPPVELPPEEPPNICQLIPELELLPEKEKEKEKEKEDDEEEE
DEDASGGDQDQEERRWNKRTQQMLHGLQRALAKTGAESISLLELCRNTNRKQAAAKFYSF
LVLKKQQAIELTQEEPYSDIIATPGPRF
HII
Sequence length 631
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle   Separation of Sister Chromatids
Establishment of Sister Chromatid Cohesion
Cohesin Loading onto Chromatin
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute megakaryoblastic leukemia in down syndrome Likely pathogenic rs758626942 RCV001293756
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cornelia de Lange syndrome 4 Pathogenic; Likely pathogenic rs1812700165, rs2537284941, rs2130469261, rs2130463115, rs764118613, rs2537297841, rs1164210703, rs2537292932, rs797045909, rs797045908, rs797045907, rs863224910, rs1812625715, rs2537297690, rs1804043
View all (19 more)
RCV001336935
RCV001543703
RCV001543704
RCV001543705
RCV001976645
View all (29 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
De Lange syndrome Likely pathogenic rs2130479407 RCV001563657
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mungan syndrome Pathogenic rs775266057 RCV000678504
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 26529363
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30275185
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer CGI_DG
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 39190349 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus HPO_DG
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 31289523
★☆☆☆☆
Found in Text Mining only