Gene Gene information from NCBI Gene database.
Entrez ID 5888
Gene name RAD51 recombinase
Gene symbol RAD51
Synonyms (NCBI Gene)
BRCC5FANCRHRAD51HsRad51HsT16930MRMV2RAD51ARECA
Chromosome 15
Chromosome location 15q15.1
Summary 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.
7
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.
562
miRTarBase ID miRNA Experiments Reference
MIRT003819 hsa-miR-197-3p Microarray 16822819
MIRT006780 hsa-miR-96-5p ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern 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 factors information provided by TRRUST V2 database.
9
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
115
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179617 9817 ENSG00000051180
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial cancer of breast Pathogenic rs199925463 RCV003322592
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group R Likely pathogenic; Pathogenic rs2504532073, rs2504524090, rs1057519413, rs1555429629, rs1895530875 RCV003326675
RCV003225638
RCV000412566
RCV000626039
RCV001172541
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mirror movements 2 Pathogenic rs199925463, rs34091239, rs1555429623 RCV000022747
RCV000022748
RCV000542570
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RAD51-related disorder Likely pathogenic; Pathogenic rs2504406488, rs1057519413 RCV004536683
RCV001731668
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 24457040
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia GENOMICS_ENGLAND_DG 28297620
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 11935313
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28099437, 28139510
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29290255
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 10851081, 11935313
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10583305
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 19117011, 22439007
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 28466382, 30577817, 31638261
★☆☆☆☆
Found in Text Mining only