Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5888
Gene name Gene Name - the full gene name approved by the HGNC.
RAD51 recombinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAD51
Synonyms (NCBI Gene) Gene synonyms aliases
BRCC5, FANCR, HRAD51, HsRad51, HsT16930, MRMV2, RAD51A, RECA
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.1
Summary Summary of gene provided in NCBI Entrez 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 pr
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34091239 A>-,AA Pathogenic Intron variant, frameshift variant, coding sequence variant
rs121917739 G>A Benign, pathogenic, uncertain-significance Missense variant, coding sequence variant
rs199925463 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs1057519413 G>A Pathogenic Intron variant, coding sequence variant, missense variant
rs1555429623 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003819 hsa-miR-197-3p Microarray 16822819
MIRT006780 hsa-miR-96-5p Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 22761336
MIRT016582 hsa-miR-193b-3p Microarray 20304954
MIRT023031 hsa-miR-124-3p Microarray 18668037
MIRT024626 hsa-miR-215-5p Microarray 19074876
Transcription factors
Transcription factor Regulation Reference
BRCA2 Unknown 12967658;17515904;19628690;20729859
CREBBP Unknown 23285190
E2F1 Unknown 23285190
E2F4 Repression 20133863;21701264
E2F4 Unknown 17001309
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000150 Function DNA strand exchange activity IBA
GO:0000150 Function DNA strand exchange activity IDA 18417535
GO:0000150 Function DNA strand exchange activity IEA
GO:0000152 Component Nuclear ubiquitin ligase complex IDA 14636569
GO:0000166 Function Nucleotide binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
179617 9817 ENSG00000051180
Protein
UniProt ID Q06609
Protein name DNA repair protein RAD51 homolog 1 (HsRAD51) (hRAD51) (RAD51 homolog A)
Protein function Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR) (PubMed:12205100, PubMed:18417535, PubMed:20231364, PubMed:20348101, PubMed:22325354, PubMed:23509288, PubMed:23754376, PubMed:
PDB 1B22 , 1N0W , 5H1B , 5H1C , 5JZC , 5NP7 , 5NWL , 7C9A , 7EJC , 7EJE , 8BQ2 , 8BR2 , 8BSC , 8GYK , 8JND , 8JNE , 8JNF , 8PBC , 8PBD , 8R64 , 8RCD , 8RCF , 8XBT , 8XBU , 8XBV , 8XBW , 8XBX , 8XBY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14520 HHH_5 31 80 Domain
PF08423 Rad51 84 337 Rad51 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis and thymus, followed by small intestine, placenta, colon, pancreas and ovary. Weakly expressed in breast.
Sequence
Sequence length 339
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Homologous recombination
Fanconi anemia pathway
Pathways in cancer
Pancreatic cancer
  HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Presynaptic phase of homologous DNA pairing and strand exchange
Transcriptional Regulation by E2F6
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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
Fanconi Anemia Fanconi anemia complementation group R rs1057519413, rs1555429629 N/A
Mirror Movements mirror movements 2 rs199925463, rs34091239, rs1555429623 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
Breast Carcinoma hereditary breast carcinoma N/A N/A GenCC
hereditary cancer Hereditary cancer N/A N/A ClinVar
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 28099437, 28139510
Adenocarcinoma of Lung Associate 15956972, 25026294, 31514295, 33228740
Anemia Associate 33662100
Anemia Hemolytic Associate 17384638, 23318456, 26681308
Anorexia Associate 33662100
Arthritis Rheumatoid Associate 36835215
Ataxia Telangiectasia Associate 9315668
Barrett Esophagus Stimulate 21423218
Bloom Syndrome Associate 12975363, 19632996, 20215422, 21113733
Brain Neoplasms Associate 24060578, 29287594