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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
301
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute megakaryoblastic leukemia in down syndrome Likely pathogenic rs758626942 RCV001293756
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
RCV002466787
RCV002471851
RCV002832839
RCV000192699
RCV000195046
RCV000194033
RCV000198309
RCV003645955
RCV003531583
RCV003988796
RCV003991328
RCV000500197
RCV000029138
RCV000680267
RCV000680268
RCV000680272
RCV000677715
RCV001215062
RCV000988109
RCV000995850
RCV000995851
RCV001007933
RCV001052591
RCV001072117
RCV001072118
RCV001072119
RCV001260876
RCV005411700
RCV001281378
De Lange syndrome Likely pathogenic rs2130479407 RCV001563657
Mungan syndrome Pathogenic rs775266057 RCV000678504
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs2921787, rs16889042 RCV005888208
RCV005901070
Cervical cancer Likely benign rs16889042 RCV005901072
Cholangiocarcinoma Benign rs2921787 RCV005888213
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign; Likely benign rs200333487, rs16889042 RCV005888222
RCV005901076
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aneuploidy Associate 39190349
Bone Diseases Associate 32296131
Bone Diseases Developmental Associate 35906355
Breast Neoplasms Associate 19276285, 21255398, 21607584, 22537934, 27466323, 34105210, 35227290, 36826152, 37381036, 39838298
Carcinogenesis Associate 31884342, 33766983, 35906355
Carcinoma Basal Cell Associate 21255398
Carcinoma Hepatocellular Associate 28434945
Carcinoma Non Small Cell Lung Associate 26482648
Cleft Palate Associate 36672860
Colorectal Neoplasms Associate 24548858, 30546056