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Aliases for RAD21 Gene

Aliases for RAD21 Gene

  • RAD21 Cohesin Complex Component 2 3
  • Sister Chromatid Cohesion 1 2 3
  • Nuclear Matrix Protein 1 3 4
  • SCC1 Homolog 3 4
  • Kleisin 2 3
  • NXP-1 3 4
  • HHR21 3 4
  • HR21 3 4
  • NXP1 3 4
  • Protein Involved In DNA Double-Strand Break Repair 3
  • RAD21 (S. Pombe) Homolog 2
  • RAD21 Homolog (S. Pombe) 2
  • RAD21 Homolog 3
  • KIAA0078 4
  • HRAD21 3
  • CDLS4 3
  • MCD1 3
  • SCC1 3

External Ids for RAD21 Gene

Previous GeneCards Identifiers for RAD21 Gene

  • GC08M117919
  • GC08M117526
  • GC08M117814
  • GC08M117927
  • GC08M113184
  • GC08M117858

Summaries for RAD21 Gene

Entrez Gene Summary for RAD21 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-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]

GeneCards Summary for RAD21 Gene

RAD21 (RAD21 Cohesin Complex Component) is a Protein Coding gene. Diseases associated with RAD21 include rad21-related cornelia de lange syndrome and cornelia de lange syndrome 4. Among its related pathways are Cell Cycle, Mitotic and Transport to the Golgi and subsequent modification. An important paralog of this gene is RAD21L1.

UniProtKB/Swiss-Prot for RAD21 Gene

  • Cleavable component of the cohesin complex, involved in chromosome cohesion during cell cycle, in DNA repair, and in apoptosis. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At metaphase-anaphase transition, this protein is cleaved by separase/ESPL1 and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Also plays a role in apoptosis, via its cleavage by caspase-3/CASP3 or caspase-7/CASP7 during early steps of apoptosis: the C-terminal 64 kDa cleavage product may act as a nuclear signal to initiate cytoplasmic events involved in the apoptotic pathway.

Gene Wiki entry for RAD21 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAD21 Gene

Genomics for RAD21 Gene

Regulatory Elements for RAD21 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RAD21 Gene

Chromosome:
8
Start:
116,845,934 bp from pter
End:
116,874,866 bp from pter
Size:
28,933 bases
Orientation:
Minus strand

Genomic View for RAD21 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAD21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAD21 Gene

Proteins for RAD21 Gene

  • Protein details for RAD21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60216-RAD21_HUMAN
    Recommended name:
    Double-strand-break repair protein rad21 homolog
    Protein Accession:
    O60216
    Secondary Accessions:
    • A8K0E0
    • Q15001
    • Q99568

    Protein attributes for RAD21 Gene

    Size:
    631 amino acids
    Molecular mass:
    71690 Da
    Quaternary structure:
    • Cohesin complexes are composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domain, RAD21 which link them, and one STAG protein (STAG1, STAG2 or STAG3), which interacts with RAD21. Found in a complex with SMC1A, SMC3, CDCA5, PDS5A/SCC-112 and PDS5B/APRIN. Interacts with PDS5B and WAPAL; the interaction is direct.
    SequenceCaution:
    • Sequence=BAA07554.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAD21 Gene

neXtProt entry for RAD21 Gene

Proteomics data for RAD21 Gene at MOPED

Post-translational modifications for RAD21 Gene

  • Cleaved by separase/ESPL1 at the onset of anaphase. Cleaved by caspase-3 and caspase-7 at the beginning of apoptosis. The cleavage by ESPL1 and caspase-3 take place at different sites.
  • Phosphorylated; becomes hyperphosphorylated in M phase of cell cycle. The large dissociation of cohesin from chromosome arms during prophase may be partly due to its phosphorylation by PLK.
  • Ubiquitination at Lys 72, Lys 86, Lys 364, Lys 371, Lys 387, Lys 573, and Lys 605
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAD21 (RAD21)

No data available for DME Specific Peptides for RAD21 Gene

Domains & Families for RAD21 Gene

Gene Families for RAD21 Gene

Protein Domains for RAD21 Gene

Suggested Antigen Peptide Sequences for RAD21 Gene

Graphical View of Domain Structure for InterPro Entry

O60216

UniProtKB/Swiss-Prot:

RAD21_HUMAN :
  • The C-terminal part associates with the head of SMC1A, while the N-terminal part binds to the head of SMC3.
  • Belongs to the rad21 family.
Domain:
  • The C-terminal part associates with the head of SMC1A, while the N-terminal part binds to the head of SMC3.
Family:
  • Belongs to the rad21 family.
genes like me logo Genes that share domains with RAD21: view

Function for RAD21 Gene

Molecular function for RAD21 Gene

GENATLAS Biochemistry:
yeast (S pombe),RAD21 homolog,highly expressed in testis,thymus,involved in nucleotide excision repair of ionizing radiation induced DNA double-strand break
UniProtKB/Swiss-Prot Function:
Cleavable component of the cohesin complex, involved in chromosome cohesion during cell cycle, in DNA repair, and in apoptosis. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At metaphase-anaphase transition, this protein is cleaved by separase/ESPL1 and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Also plays a role in apoptosis, via its cleavage by caspase-3/CASP3 or caspase-7/CASP7 during early steps of apoptosis: the C-terminal 64 kDa cleavage product may act as a nuclear signal to initiate cytoplasmic events involved in the apoptotic pathway.

Gene Ontology (GO) - Molecular Function for RAD21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0005515 protein binding IPI 12672959
genes like me logo Genes that share ontologies with RAD21: view
genes like me logo Genes that share phenotypes with RAD21: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAD21

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RAD21 Gene

Localization for RAD21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD21 Gene

Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, it is cleaved by separase/ESPL1, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. Once cleaved by caspase-3, the C-terminal 64 kDa cleavage product translocates to the cytoplasm, where it may trigger apoptosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAD21 Gene COMPARTMENTS Subcellular localization image for RAD21 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RAD21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome --
GO:0000775 chromosome, centromeric region TAS --
GO:0000785 chromatin IEA --
GO:0000794 condensed nuclear chromosome --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with RAD21: view

Pathways & Interactions for RAD21 Gene

genes like me logo Genes that share pathways with RAD21: view

Pathways by source for RAD21 Gene

2 Cell Signaling Technology pathways for RAD21 Gene
1 KEGG pathway for RAD21 Gene
1 GeneGo (Thomson Reuters) pathway for RAD21 Gene

PCR Array Products

SIGNOR curated interactions for RAD21 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RAD21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0006302 double-strand break repair TAS 8812457
GO:0006310 DNA recombination TAS 8812457
GO:0006357 regulation of transcription from RNA polymerase II promoter IDA 19468298
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with RAD21: view

Drugs & Compounds for RAD21 Gene

(1) Additional Compounds for RAD21 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GLYCOLIPID
genes like me logo Genes that share compounds with RAD21: view

Transcripts for RAD21 Gene

Unigene Clusters for RAD21 Gene

RAD21 homolog (S. pombe):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAD21

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAD21 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^
SP1: - - - - - - - -
SP2: - - -
SP3:
SP4: - - - - - - - - - - - - - - - - - - - - -
SP5: - - - - -
SP6: - -
SP7: -
SP8:
SP9:

ExUns: 16a · 16b ^ 17a · 17b · 17c
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for RAD21 Gene

GeneLoc Exon Structure for
RAD21
ECgene alternative splicing isoforms for
RAD21

Expression for RAD21 Gene

mRNA expression in normal human tissues for RAD21 Gene

Protein differential expression in normal tissues from HIPED for RAD21 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.2), Blymphocyte (11.3), and Tlymphocyte (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAD21 Gene



SOURCE GeneReport for Unigene cluster for RAD21 Gene Hs.81848

genes like me logo Genes that share expression patterns with RAD21: view

Protein tissue co-expression partners for RAD21 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RAD21 Gene

Orthologs for RAD21 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAD21 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAD21 35
  • 92.96 (n)
  • 98.41 (a)
RAD21 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAD21 35
  • 93.34 (n)
  • 98.73 (a)
RAD21 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rad21 35
  • 87.8 (n)
  • 97.31 (a)
Rad21 16
Rad21 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAD21 35
  • 99.84 (n)
  • 100 (a)
RAD21 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rad21 35
  • 89.06 (n)
  • 97.46 (a)
oppossum
(Monodelphis domestica)
Mammalia RAD21 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAD21 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAD21 35
  • 83.02 (n)
  • 93.49 (a)
RAD21 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAD21 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rad21 35
  • 76.25 (n)
  • 86.75 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6046 35
zebrafish
(Danio rerio)
Actinopterygii rad21 35
rad21b 35
  • 72 (n)
  • 81.58 (a)
rad21a 36
  • 75 (a)
OneToMany
rad21a 36
  • 75 (a)
OneToMany
rad21b 36
  • 79 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rad21 37
  • 37 (a)
vtd 35
  • 55.23 (n)
  • 52.78 (a)
vtd 36
  • 36 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004560 35
  • 55.62 (n)
  • 52.41 (a)
worm
(Caenorhabditis elegans)
Secernentea coh-1 37
  • 34 (a)
scc-1 37
  • 29 (a)
coh-1 36
  • 29 (a)
ManyToMany
scc-1 36
  • 31 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2469 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for RAD21:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAD21 Gene

ENSEMBL:
Gene Tree for RAD21 (if available)
TreeFam:
Gene Tree for RAD21 (if available)

Paralogs for RAD21 Gene

Paralogs for RAD21 Gene

(2) SIMAP similar genes for RAD21 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for RAD21 Gene

genes like me logo Genes that share paralogs with RAD21: view

Variants for RAD21 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RAD21 Gene

O60216-RAD21_HUMAN
Some radiosensitive cancer patients seem to have Arg-481 instead of the conserved Gly-481. It may be that this mutation could contribute to radiosensitivity

Sequence variations from dbSNP and Humsavar for RAD21 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs16924 -- 116,867,092(-) TGCCA(C/T)GAAAA intron-variant
rs1050838 Benign, Benign 116,851,978(-) AAAGC(C/T)GGACA synonymous-codon, reference
rs1374298 -- 116,872,332(-) GTTAG(G/T)ACAAA intron-variant
rs2241981 -- 116,852,369(-) CAGAG(G/T)TTTAA intron-variant
rs2241982 -- 116,852,312(-) ATTGT(A/G)CTGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAD21 Gene

Variant ID Type Subtype PubMed ID
nsv831434 CNV Gain 17160897
nsv6359 CNV Insertion 18451855
esv271630 CNV Insertion 20981092
dgv7871n71 CNV Loss 21882294

Variation tolerance for RAD21 Gene

Residual Variation Intolerance Score: 8.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAD21 Gene

HapMap Linkage Disequilibrium report
RAD21
Human Gene Mutation Database (HGMD)
RAD21

Disorders for RAD21 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RAD21 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rad21-related cornelia de lange syndrome
  • cornelia de lange syndrome 4
cornelia de lange syndrome 4
  • cdls4
cornelia de lange syndrome
  • de lange syndrome
trichorhinophalangeal syndrome, type ii
  • trichorhinophalangeal syndrome type ii
roberts syndrome
  • sc phocomelia syndrome
- elite association
Search RAD21 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAD21_HUMAN
  • Cornelia de Lange syndrome 4 (CDLS4) [MIM:614701]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. {ECO:0000269 PubMed:22633399}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAD21

Genetic Association Database (GAD)
RAD21
Human Genome Epidemiology (HuGE) Navigator
RAD21
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAD21
genes like me logo Genes that share disorders with RAD21: view

No data available for Genatlas for RAD21 Gene

Publications for RAD21 Gene

  1. Cohesion establishment factor, Eco1 represses transcription via association with histone demethylase, LSD1. (PMID: 20331966) Choi H.K. … Kim S.T. (Biochem. Biophys. Res. Commun. 2010) 23 67
  2. Cohesin promotes the repair of ionizing radiation-induced DNA double-strand breaks in replicated chromatin. (PMID: 19906707) Bauerschmidt C. … Rothkamm K. (Nucleic Acids Res. 2010) 23 67
  3. Lampbrush chromosomes enable study of cohesin dynamics. (PMID: 19308699) Austin C. … Bellini M. (Chromosome Res. 2009) 23 67
  4. The Elg1-RFC clamp-loading complex performs a role in sister chromatid cohesion. (PMID: 19262753) Maradeo M.E. … Skibbens R.V. (PLoS ONE 2009) 23 67
  5. Architectural roles of multiple chromatin insulators at the human apolipoprotein gene cluster. (PMID: 19322193) Mishiro T. … Nakao M. (EMBO J. 2009) 23 67

Products for RAD21 Gene

Sources for RAD21 Gene

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