Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5885
Gene name Gene Name - the full gene name approved by the HGNC.
RAD21 cohesin complex component
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAD21
Synonyms (NCBI Gene) Gene synonyms aliases
CDLS4, HR21, HRAD21, MCD1, MGS, NXP1, SCC1, hHR21
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.11
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
CTCF Unknown 19826084
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606462 9811 ENSG00000164754
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cornelia De Lange Syndrome cornelia de lange syndrome 4 rs387907212, rs1563688680, rs797045909, rs1586275911, rs797045908, rs1586268625, rs797045907, rs1586276006, rs863224910, rs748575266, rs1554612096, rs1812515682, rs1563687901, rs1812331711, rs1563689416
View all (4 more)
N/A
MUNGAN SYNDROME mungan syndrome rs775266057 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertension Hypertension N/A N/A GWAS
Associations from Text Mining Disease 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