GeneBe

RAD51B

RAD51 paralog B

Basic information

Region (hg38): 14:67819779-68730218

Previous symbols: [ "RAD51L1" ]

Links

ENSG00000182185 ∙ NCBI:5890 ∙ OMIM:602948 ∙ HGNC:9822 ∙ Uniprot:O15315 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • primary ovarian failure (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAD51B gene.

  • not_specified (404 variants)
  • not_provided (30 variants)
  • Hereditary_breast_ovarian_cancer_syndrome (25 variants)
  • RAD51B-related_disorder (18 variants)
  • Hereditary_cancer-predisposing_syndrome (17 variants)
  • Hereditary_cancer (1 variants)
  • Familial_cancer_of_breast (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAD51B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000133510.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
5
clinvar
98
clinvar
2
clinvar
 106
missense
230
clinvar
24
clinvar
4
clinvar
 258
nonsense
4
clinvar
 4
start loss
1
 1
frameshift
7
clinvar
 7
splice donor/acceptor (+/-2bp)
12
clinvar
6
clinvar
1
clinvar
 19
Total 0 1 259 128 7

Highest pathogenic variant AF is 0.00000870915

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RAD51Bprotein_codingprotein_codingENST00000487270 10910440
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.08e-150.0041912564601021257480.000406
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6721691950.8650.000009442459
Missense in Polyphen2946.7520.62029582
Synonymous0.3396871.60.9490.00000333778
Loss of Function-0.5632118.41.149.39e-7233

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007690.000769
Ashkenazi Jewish0.000.00
East Asian0.0009360.000925
Finnish0.000.00
European (Non-Finnish)0.0002940.000290
Middle Eastern0.0009360.000925
South Asian0.0009160.000915
Other0.0005020.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. {ECO:0000269|PubMed:11751635, ECO:0000269|PubMed:11751636, ECO:0000269|PubMed:11842113, ECO:0000269|PubMed:12441335, ECO:0000269|PubMed:23108668, ECO:0000269|PubMed:23149936}.;
Disease
DISEASE: Note=A chromosomal aberration involving RAD51B is found in pulmonary chondroid hamartoma. Translocation t(6;14)(p21;q23- 24) with HMGA1. {ECO:0000269|PubMed:11978964}.; DISEASE: Note=A chromosomal aberration involving RAD51B is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with HMGA2. {ECO:0000269|PubMed:12649198, ECO:0000269|PubMed:9892177}.;
Pathway
Homologous recombination - Homo sapiens (human);HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);DNA Repair;DNA Double-Strand Break Repair;Homology Directed Repair;Factors involved in megakaryocyte development and platelet production;Hemostasis;Presynaptic phase of homologous DNA pairing and strand exchange;Homologous DNA Pairing and Strand Exchange;Resolution of D-loop Structures through Holliday Junction Intermediates;Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-Loop Structures;HDR through Homologous Recombination (HRR) (Consensus)

Recessive Scores

pRec
0.102

Intolerance Scores

loftool
rvis_EVS
0.93
rvis_percentile_EVS
89.79

Haploinsufficiency Scores

pHI
0.178
hipred
N
hipred_score
0.187
ghis

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
S
essential_gene_gene_trap
E
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rad51b
Phenotype
mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process
double-strand break repair via homologous recombination;DNA repair;DNA recombination;reciprocal meiotic recombination;blood coagulation;positive regulation of G2/M transition of mitotic cell cycle
Cellular component
nucleus;nucleoplasm;replication fork;Rad51B-Rad51C-Rad51D-XRCC2 complex
Molecular function
four-way junction DNA binding;DNA binding;double-stranded DNA binding;single-stranded DNA binding;protein binding;ATP binding;DNA-dependent ATPase activity