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Aliases for RAD51 Gene

Aliases for RAD51 Gene

  • RAD51 Recombinase 2 3 5
  • BRCA1/BRCA2-Containing Complex, Subunit 5 2 3
  • RAD51 Homolog A 3 4
  • HsRad51 3 4
  • HRAD51 3 4
  • RAD51A 3 4
  • RECA 3 4
  • RAD51 Homolog (RecA Homolog, E. Coli) (S. Cerevisiae) 2
  • RAD51 (S. Cerevisiae) Homolog (E Coli RecA Homolog) 2
  • DNA Repair Protein RAD51 Homolog 1 3
  • RAD51 Homolog (S. Cerevisiae) 2
  • RecA, E. Coli, Homolog Of 3
  • Recombination Protein A 3
  • RecA-Like Protein 3
  • HsT16930 3
  • BRCC5 3
  • FANCR 3
  • MRMV2 3

External Ids for RAD51 Gene

Previous HGNC Symbols for RAD51 Gene

  • RAD51A
  • RECA

Previous GeneCards Identifiers for RAD51 Gene

  • GC15P036354
  • GC15P033883
  • GC15P038566
  • GC15P038703
  • GC15P038774
  • GC15P040987
  • GC15P017834

Summaries for RAD51 Gene

Entrez Gene Summary for RAD51 Gene

  • The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

GeneCards Summary for RAD51 Gene

RAD51 (RAD51 Recombinase) is a Protein Coding gene. Diseases associated with RAD51 include Mirror Movements 2 and Breast Cancer. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). GO annotations related to this gene include identical protein binding and protein C-terminus binding. An important paralog of this gene is RAD51C.

UniProtKB/Swiss-Prot for RAD51 Gene

  • Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR). Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange (PubMed:26681308). Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51C and XRCC3. Also involved in interstrand cross-link repair (PubMed:26253028).

Tocris Summary for RAD51 Gene

  • The syntheses of RNA (transcription), DNA and proteins (translation) are fundamental processes necessary for all life. Transcription begins by uncoiling a section of DNA that will be used as the template and is initiated by RNA polymerase binding to a promoter sequence.

Gene Wiki entry for RAD51 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAD51 Gene

Genomics for RAD51 Gene

Regulatory Elements for RAD51 Gene

Enhancers for RAD51 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G040742 1.2 Ensembl ENCODE 33.3 +51.2 51150 7.4 PKNOX1 FOXA2 ATF1 ARID4B SIN3A TCF12 ZNF121 ZNF766 ELK1 FOS C15orf57 RAD51 C15orf62 DNAJC17 ZFYVE19 RAD51-AS1 SPINT1 RHOV VPS18 ENSG00000251161
GH15G040589 1.2 Ensembl ENCODE 27.7 -104.1 -104099 2.6 HDGF PKNOX1 ATF1 FOXA2 YBX1 ZNF2 ZNF48 YY1 ZNF121 GTF3C2 C15orf57 RAD51 DNAJC17 ENSG00000259211 BAHD1 RPAP1 RAD51-AS1 BMF RMDN3 GCHFR
GH15G040693 1.1 ENCODE 22.8 +0.3 314 3.1 PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 C15orf57 ENSG00000259211 DNAJC17 RAD51 BAHD1 KNSTRN CHST14 RPAP1 EIF2AK4 BMF
GH15G040543 1.1 ENCODE dbSUPER 16.8 -150.7 -150748 1.7 HDGF PKNOX1 TBL1XR1 WRNIP1 FOS RELB ETV6 IKZF2 CREM CBFB C15orf57 RAD51 NDUFAF1 PIR54978
GH15G040791 1.5 Ensembl ENCODE dbSUPER 11 +99.7 99664 5.2 FOXA2 ARID4B FEZF1 BRCA1 YY1 FOS PAF1 MIER2 PPARG KAT8 ZFYVE19 RMDN3 C15orf57 C15orf62 SPINT1 GCHFR RAD51-AS1 RAD51 RHOV RPUSD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAD51 on UCSC Golden Path with GeneCards custom track

Promoters for RAD51 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075546 426 2001 PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Location for RAD51 Gene

Chromosome:
15
Start:
40,694,774 bp from pter
End:
40,732,339 bp from pter
Size:
37,566 bases
Orientation:
Plus strand

Genomic View for RAD51 Gene

Genes around RAD51 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAD51 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAD51 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAD51 Gene

Proteins for RAD51 Gene

  • Protein details for RAD51 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06609-RAD51_HUMAN
    Recommended name:
    DNA repair protein RAD51 homolog 1
    Protein Accession:
    Q06609
    Secondary Accessions:
    • B0FXP0
    • B2R8T6
    • Q6FHX9
    • Q6ZNA8
    • Q9BV60

    Protein attributes for RAD51 Gene

    Size:
    339 amino acids
    Molecular mass:
    36966 Da
    Quaternary structure:
    • Forms linear homooligomers, giving rise to a RAD51 nucleoprotein filament, which is essential for strand-pairing reactions during DNA recombination. Interacts with BRCA1 and either directly or indirectly with p53. Interacts with XRCC3, RAD54L and RAD54B. Interacts with the BCDX2 subcomplex RAD51C:RAD51B. Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3. Interacts with RAD51AP1 and RAD51AP2. Interacts with CHEK1, and this may require prior phosphorylation of CHEK1. Interacts with the MND1-PSMC3IP heterodimer. Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR. Interacts with SPIDR; the interaction is direct and recruits RAD51 to DNA damage sites. Interacts with FIGNL1 (via N-terminal one-half region); the interaction is direct. Interacts with RAD51AP1 (via C-terminal region); the interaction is direct. Interacts with NABP2, RPA1, PALB2 and RAD51. Interacts with SWI5/C9orf119, and at lower level with SFR1/MEIR5. Interacts with hyperphosphorylated RPA2; this interaction is necessary for efficient recruitment to chromatin in response to DNA damage. Interacts with SWSAP1; involved in homologous recombination repair. Interacts with PARPBP, BRCA2 and RECQL5; these interactions interfere with the formation of the RAD51-DNA homologous recombination structure. Interacts with POLQ; POLQ acts as an inhibitor of homology-recombination repair (HR) pathway by limiting RAD51 accumulation at resected ends (PubMed:25642963). Interacts with FBXO18/FBH1 (PubMed:23393192). Interacts with POLN (PubMed:19995904).

    Three dimensional structures from OCA and Proteopedia for RAD51 Gene

    Alternative splice isoforms for RAD51 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAD51 Gene

Post-translational modifications for RAD51 Gene

  • Phosphorylated. Phosphorylation of Thr-309 by CHEK1 may enhance association with chromatin at sites of DNA damage and promote DNA repair by homologous recombination. Phosphorylation by ABL1 inhibits function.
  • Ubiquitinated by the SCF(FBXO18) E3 ubiquitin ligase complex, regulating RAD51 subcellular location and preventing its association with DNA.
  • Ubiquitination at isoforms=2, 3, 458 and Lys156
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAD51 (RAD51)
  • Cloud-Clone Corp. Antibodies for RAD51

No data available for DME Specific Peptides for RAD51 Gene

Domains & Families for RAD51 Gene

Gene Families for RAD51 Gene

Suggested Antigen Peptide Sequences for RAD51 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q06609

UniProtKB/Swiss-Prot:

RAD51_HUMAN :
  • The nuclear localization may reside in the C-terminus (between 259 and 339 AA).
  • Belongs to the RecA family. RAD51 subfamily.
Domain:
  • The nuclear localization may reside in the C-terminus (between 259 and 339 AA).
Family:
  • Belongs to the RecA family. RAD51 subfamily.
genes like me logo Genes that share domains with RAD51: view

Function for RAD51 Gene

Molecular function for RAD51 Gene

GENATLAS Biochemistry:
yeast (S cerevisiae) RAD51 homolog A,colocalizing with RPA heterotrimeric ssDNA binding protein,complexing with phosphorylated BRCA1,BRCA2 and RAD52 for DNA repair of double strand breaks through homologous recombination,also involved in immunoglobulin switch recombination,not mutated ,deleted in breast cancer with poor prognosis,uncommonly associated with parathyroid tumorigenesis
UniProtKB/Swiss-Prot Function:
Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR). Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange (PubMed:26681308). Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51C and XRCC3. Also involved in interstrand cross-link repair (PubMed:26253028).
UniProtKB/Swiss-Prot Induction:
Stress-induced increase in the mitochondrial levels is seen.

Gene Ontology (GO) - Molecular Function for RAD51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000150 recombinase activity IBA --
GO:0000166 nucleotide binding IEA --
GO:0000400 four-way junction DNA binding IBA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with RAD51: view
genes like me logo Genes that share phenotypes with RAD51: view

Human Phenotype Ontology for RAD51 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAD51 Gene

MGI Knock Outs for RAD51:

Animal Model Products

CRISPR Products

miRNA for RAD51 Gene

miRTarBase miRNAs that target RAD51

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RAD51 Gene

Localization for RAD51 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD51 Gene

Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Mitochondrion matrix. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with RAD51AP1 and RPA2 to multiple nuclear foci upon induction of DNA damage. DNA damage induces an increase in nuclear levels. Together with FIGNL1, redistributed in discrete nuclear DNA damage-induced foci after ionizing radiation (IR) or camptothecin (CPT) treatment. Accumulated at sites of DNA damage in a SPIDR-dependent manner. {ECO:0000269 PubMed:20154705, ECO:0000269 PubMed:23754376, ECO:0000269 PubMed:26681308}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAD51 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
cytoskeleton 4
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RAD51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 23754376
GO:0000784 nuclear chromosome, telomeric region IDA 21076401
GO:0000785 chromatin IDA 25585578
GO:0000790 nuclear chromatin IDA 26323318
GO:0000793 condensed chromosome IEA,ISS --
genes like me logo Genes that share ontologies with RAD51: view

Pathways & Interactions for RAD51 Gene

genes like me logo Genes that share pathways with RAD51: view

SIGNOR curated interactions for RAD51 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RAD51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination ISS 21076401
GO:0000724 double-strand break repair via homologous recombination IDA,TAS 12427746
GO:0000730 DNA recombinase assembly IMP 26681308
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
genes like me logo Genes that share ontologies with RAD51: view

Drugs & Compounds for RAD51 Gene

(43) Drugs for RAD51 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rucaparib Approved, Investigational Pharma PARP inhibitor, PARP Inhibitors, Other 16
Phosphoaminophosphonic Acid-Adenylate Ester Experimental Pharma Target 0
MP470 Investigational Pharma Target 0
Poly(ADP-ribose) Polymerase Inhibitors Pharma 340
RI-1 Pharma RAD51 inhibitor,cell-permeable 0

(26) Additional Compounds for RAD51 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for RAD51 Gene

Compound Action Cas Number
RI-1 RAD51 inhibitor,cell-permeable 415713-60-9
RI-2 Optimized reversible RAD51 inhibitor 1417162-36-7
genes like me logo Genes that share compounds with RAD51: view

Drug Products

Transcripts for RAD51 Gene

Unigene Clusters for RAD51 Gene

RAD51 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAD51 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: -
SP5:

Relevant External Links for RAD51 Gene

GeneLoc Exon Structure for
RAD51
ECgene alternative splicing isoforms for
RAD51

Expression for RAD51 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAD51 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAD51 Gene

This gene is overexpressed in Testis (x9.7).

Protein differential expression in normal tissues from HIPED for RAD51 Gene

This gene is overexpressed in Fetal Brain (17.3), Testis (15.4), Adrenal (13.8), and Blymphocyte (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAD51 Gene



NURSA nuclear receptor signaling pathways regulating expression of RAD51 Gene:

RAD51

SOURCE GeneReport for Unigene cluster for RAD51 Gene:

Hs.631709

mRNA Expression by UniProt/SwissProt for RAD51 Gene:

Q06609-RAD51_HUMAN
Tissue specificity: Highly expressed in testis and thymus, followed by small intestine, placenta, colon, pancreas and ovary. Weakly expressed in breast.

Evidence on tissue expression from TISSUES for RAD51 Gene

  • Nervous system(4.4)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAD51 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
Thorax:
  • breast
Limb:
  • hand
  • upper limb
genes like me logo Genes that share expression patterns with RAD51: view

Primer Products

No data available for Protein tissue co-expression partners for RAD51 Gene

Orthologs for RAD51 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAD51 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAD51 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia RAD51 34 35
  • 94.2 (n)
cow
(Bos Taurus)
Mammalia RAD51 34 35
  • 93.22 (n)
rat
(Rattus norvegicus)
Mammalia Rad51 34
  • 91.45 (n)
mouse
(Mus musculus)
Mammalia Rad51 34 16 35
  • 91.05 (n)
oppossum
(Monodelphis domestica)
Mammalia RAD51 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAD51 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAD51A 35
  • 85 (a)
OneToOne
RAD51 34
  • 81.51 (n)
lizard
(Anolis carolinensis)
Reptilia RAD51 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rad51 34
  • 79.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia rad51-prov 34
zebrafish
(Danio rerio)
Actinopterygii rad51 34 35
  • 77.31 (n)
wufb38e12 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3942 34
fruit fly
(Drosophila melanogaster)
Insecta Rad51 36
  • 68 (a)
spn-A 34 35
  • 65.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013412 34
  • 67.27 (n)
worm
(Caenorhabditis elegans)
Secernentea rad-51 36 34 35
  • 58.19 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20241g 34
  • 64.56 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR226W 34
  • 63.71 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD51 34 35 37
  • 60.2 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RAD51 34
  • 66.05 (n)
rice
(Oryza sativa)
Liliopsida Os12g0497300 34
  • 66.46 (n)
Os.19630 34
wheat
(Triticum aestivum)
Liliopsida Ta.7197 34
corn
(Zea mays)
Liliopsida Zm.631 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rhp51 34
  • 66.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3685 35
  • 66 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02741 34
  • 65.29 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7666 34
Species where no ortholog for RAD51 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RAD51 Gene

ENSEMBL:
Gene Tree for RAD51 (if available)
TreeFam:
Gene Tree for RAD51 (if available)

Paralogs for RAD51 Gene

Paralogs for RAD51 Gene

genes like me logo Genes that share paralogs with RAD51: view

Variants for RAD51 Gene

Sequence variations from dbSNP and Humsavar for RAD51 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs121917739 Pathogenic, Breast cancer (BC) [MIM:114480] 40,718,818(+) TGACC(A/G)GGGTG reference, missense
VAR_076593 Fanconi anemia, complementation group R (FANCR) [MIM:617244]
VAR_076870 Fanconi anemia, complementation group R (FANCR) [MIM:617244]
rs1057519413 Pathogenic 40,729,955(+) TCATC(A/G)CCCAT intron-variant, reference, missense
rs724159986 Pathogenic 40,729,933(+) AAAAA(-/A)CCTAT intron-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for RAD51 Gene

Variant ID Type Subtype PubMed ID
esv2478123 CNV deletion 19546169
esv2760026 CNV loss 17122850
esv3636229 CNV loss 21293372
esv3636230 CNV loss 21293372
nsv527234 CNV loss 19592680
nsv529030 CNV loss 19592680
nsv832984 CNV loss 17160897

Variation tolerance for RAD51 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAD51 Gene

Human Gene Mutation Database (HGMD)
RAD51
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAD51

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAD51 Gene

Disorders for RAD51 Gene

MalaCards: The human disease database

(24) MalaCards diseases for RAD51 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mirror movements 2
  • mrmv2
breast cancer
  • breast cancer, invasive ductal
fanconi anemia complementation group r
  • fancr
mirror movements 1
  • congenital mirror movements
familial breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search RAD51 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAD51_HUMAN
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:10807537, ECO:0000269 PubMed:25539919}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Mirror movements 2 (MRMV2) [MIM:614508]: A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. {ECO:0000269 PubMed:22305526}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in RAD51 have been found in patients with a Fanconi anemia-like phenotype. Disease features include growth retardation, microcephaly, mental retardation, radial dysplasia, thumb abnormalities, genital and renal defects, and hypersensitivity to DNA cross-linking agents and DNA damage. Affected individuals, however, do not show bone marrow failure and pediatric malignancies. {ECO:0000269 PubMed:26253028, ECO:0000269 PubMed:26681308}.

Relevant External Links for RAD51

Genetic Association Database (GAD)
RAD51
Human Genome Epidemiology (HuGE) Navigator
RAD51
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAD51
genes like me logo Genes that share disorders with RAD51: view

No data available for Genatlas for RAD51 Gene

Publications for RAD51 Gene

  1. A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers. (PMID: 11535547) Wang W.W. … Struewing J.P. (Cancer Epidemiol. Biomarkers Prev. 2001) 3 4 22 46 64
  2. A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. (PMID: 26253028) Wang A.T. … Smogorzewska A. (Mol. Cell 2015) 2 3 4 64
  3. Physical interaction of RECQ5 helicase with RAD51 facilitates its anti-recombinase activity. (PMID: 20348101) Schwendener S. … Janscak P. (J. Biol. Chem. 2010) 3 4 22 64
  4. Do BRCA1 modifiers also affect the risk of breast cancer in non-carriers? (PMID: 19071013) Jakubowska A. … LubiA8ski J. (Eur. J. Cancer 2009) 3 22 46 64
  5. Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility. (PMID: 18974064) Ding S.L. … Shen C.Y. (Carcinogenesis 2009) 3 22 46 64

Products for RAD51 Gene

Sources for RAD51 Gene

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