GeneBe

RAD51B

protein-coding

RAD51 paralog B

Gene summary

The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]

Previous symbols:
  • RAD51L1

MANE transcript

NM_133510.4

Inheritance

AR

ClinVar variants

P:2U:385B:197

Top phenotype

Hereditary breast ovarian cancer syndrome

gnomAD constraint

pLI —, LoF o/e 1.14

Max pathogenic AF

—

Genomic locus

chr14:67,819,779-68,730,218

External References & Databases

Ensembl (ENSG00000182185)NCBI Gene (5890)OMIM (602948)HGNC:9822GenCCUniProt (O15315)AlphaFoldClinVar (RAD51B)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~910.4 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

primary ovarian failureLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0005387

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RAD51B variants in ClinVar

8 Conditions Cataloged
not specifiedTotal: 609
not providedTotal: 33
Hereditary breast ovarian cancer syndromeTotal: 25
RAD51B-related disorderTotal: 18
Hereditary cancer-predisposing syndromeTotal: 17
RAD51B-related cancer predispositionTotal: 2
Hereditary cancerTotal: 1
Familial cancer of breastTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_133510.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
5
clinvar
157
clinvar
2
clinvar
 165
missense
340
clinvar
35
clinvar
3
clinvar
 378
nonsense
1
clinvar
8
clinvar
 9
start loss
2
clinvar
 2
frameshift
11
clinvar
 11
splice donor/acceptor (+/-2bp)
19
clinvar
 19
Total023851925584

Highest pathogenic variant AF is 0.000008709154

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_133510.4RefSeqNP_598194.110MANE Select
ENST00000471583.6EnsemblENSP00000418859.110MANE Select
NM_001321809.2RefSeqNP_001308738.110Standard
NM_001321810.2RefSeqNP_001308739.110Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • 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

Biological Process

  • double-strand break repair via homologous recombination
  • DNA repair
  • DNA recombination
  • reciprocal meiotic recombination
  • blood coagulation

Molecular Function

  • four-way junction DNA binding
  • DNA binding
  • double-stranded DNA binding
  • single-stranded DNA binding
  • protein binding

Cellular Component

  • nucleus
  • nucleoplasm
  • replication fork
  • Rad51B-Rad51C-Rad51D-XRCC2 complex

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000487270
Coding exons
10
Length
910440
Individuals with no LoFs
125646
Homozygous LoFs
0
Heterozygous LoFs
102
Defined
125748
p
0.000406
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.6721691950.8650.000009442459
Missense (PolyPhen)2946.7520.62029582
Synonymous0.3396871.60.9490.00000333778
Loss of Function-0.5632118.41.149.39e-7233

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000250.00025rare
Latino/Admixed American0.000520.00049rare
Ashkenazi Jewish00.0absent
East Asian0.000940.00092rare
Finnish00.0absent
European (Non-Finnish)0.000290.00029rare
South Asian0.000920.00091rare
Other0.000500.00049rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec
0.102

Intolerance Scores

RVIS EVS
0.93
RVIS percentile EVS
89.79

Essentials

Essential (CRISPR)
E
Essential (CRISPR2)
S
Essential (gene trap)
E
Indispensability pred.
N
Indispensability score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
Feedback | API | MCP | Annotate VCF | Sitemap | About | Privacy & Terms
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.