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RAD51B RAD51 paralog B [ Homo sapiens (human) ]

Gene ID: 5890, updated on 7-Jul-2019

Summary

Official Symbol
RAD51Bprovided by HGNC
Official Full Name
RAD51 paralog Bprovided by HGNC
Primary source
HGNC:HGNC:9822
See related
Ensembl:ENSG00000182185 MIM:602948
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
REC2; R51H2; RAD51L1
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See RAD51B in Genome Data Viewer
Location:
14q24.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (67819779..68683118)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (68286496..69149889)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 213, pseudogene Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene zinc finger FYVE-type containing 26 Neighboring gene Sharpr-MPRA regulatory region 13811 Neighboring gene centrosomal protein 170kDa pseudogene Neighboring gene uncharacterized LOC105370546 Neighboring gene VISTA enhancer hs1392 Neighboring gene RNA, 7SL, cytoplasmic 706, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 108, pseudogene Neighboring gene uncharacterized LOC107984679 Neighboring gene VISTA enhancer hs1688 Neighboring gene uncharacterized LOC101927971 Neighboring gene ribosomal protein L7a pseudogene 5 Neighboring gene peptidylprolyl isomerase A pseudogene 6 Neighboring gene VISTA enhancer hs1616 Neighboring gene RAD51B intron CAGE-defined mid-level expression enhancer Neighboring gene uncharacterized LOC107984016 Neighboring gene uncharacterized LOC100996664 Neighboring gene uncharacterized LOC105370547 Neighboring gene RNA, U6 small nuclear 921, pseudogene Neighboring gene ribosomal protein L12 pseudogene 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide scan for breast cancer risk haplotypes among African American women.
NHGRI GWA Catalog
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
NHGRI GWA Catalog
Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
NHGRI GWA Catalog
Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.
NHGRI GWA Catalog
Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Novel genetic markers of breast cancer survival identified by a genome-wide association study.
NHGRI GWA Catalog
Seven new loci associated with age-related macular degeneration.
NHGRI GWA Catalog

Pathways from BioSystems

  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
    Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
  • Homologous recombination, organism-specific biosystem (from KEGG)
    Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homologous recombination, conserved biosystem (from KEGG)
    Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
    Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
  • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
    Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
  • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
  • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-dependent ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to four-way junction DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to four-way junction DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA recombination TAS
Traceable Author Statement
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of G2/M transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
reciprocal meiotic recombination TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Rad51B-Rad51C-Rad51D-XRCC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rad51B-Rad51C-Rad51D-XRCC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
replication fork IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
replication fork IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA repair protein RAD51 homolog 2
Names
RAD51 homolog B
RecA-like protein
recombination repair protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023267.2 RefSeqGene

    Range
    5001..781243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321809.1NP_001308738.1  DNA repair protein RAD51 homolog 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL121595, AL121820, AL122013, AL589168
    Conserved Domains (2) summary
    cd01123
    Location:83343
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam08423
    Location:65342
    Rad51; Rad51
  2. NM_001321810.1NP_001308739.1  DNA repair protein RAD51 homolog 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL121595, AL121820, AL122013, AL589168
    Conserved Domains (2) summary
    cd01123
    Location:83343
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam08423
    Location:65342
    Rad51; Rad51
  3. NM_001321812.1NP_001308741.1  DNA repair protein RAD51 homolog 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL121595, AL122013, AL589168
    Conserved Domains (2) summary
    cd01123
    Location:83343
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam08423
    Location:65342
    Rad51; Rad51
  4. NM_001321814.1NP_001308743.1  DNA repair protein RAD51 homolog 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL121595, AL122013, AL589168
    Conserved Domains (2) summary
    cd01123
    Location:83343
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam08423
    Location:65342
    Rad51; Rad51
  5. NM_001321815.1NP_001308744.1  DNA repair protein RAD51 homolog 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL121595, AL121820, AL122013, AL589168
    Conserved Domains (2) summary
    cd01123
    Location:45305
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam08423
    Location:27304
    Rad51; Rad51
  6. NM_001321817.2NP_001308746.1  DNA repair protein RAD51 homolog 2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL121595, AL589168, BX161515
    UniProtKB/Swiss-Prot
    O15315
    Conserved Domains (1) summary
    cd01123
    Location:1224
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
  7. NM_001321818.1NP_001308747.1  DNA repair protein RAD51 homolog 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL121595, AL121820, AL122013, AL589168
    Related
    ENSP00000420061.1, ENST00000488612.5
    Conserved Domains (2) summary
    cd01123
    Location:83343
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam08423
    Location:65342
    Rad51; Rad51
  8. NM_001321819.1NP_001308748.1  DNA repair protein RAD51 homolog 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL121595, AL122013, AL589168
    Conserved Domains (2) summary
    cd01123
    Location:83343
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam08423
    Location:65342
    Rad51; Rad51
  9. NM_001321821.1NP_001308750.1  DNA repair protein RAD51 homolog 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AK309787, AK310686, AL121820
    Consensus CDS
    CCDS81815.1
    UniProtKB/TrEMBL
    C9JYJ0
    Related
    ENSP00000419881.1, ENST00000487861.5
    Conserved Domains (2) summary
    cd01123
    Location:83343
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam08423
    Location:65342
    Rad51; Rad51
  10. NM_002877.6NP_002868.1  DNA repair protein RAD51 homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_002868.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has an alternate exon at the 3' end compared to the longest variant (3). The resulting isoform (1) has a distinct C-terminus, as compared to isoform 3.
    Source sequence(s)
    AL597484, BM671299, CB051081, U84138, U92074
    UniProtKB/Swiss-Prot
    O15315
    UniProtKB/TrEMBL
    A0A024R656
    Conserved Domains (2) summary
    cd01123
    Location:83343
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam08423
    Location:65342
    Rad51; Rad51
  11. NM_133509.4NP_598193.2  DNA repair protein RAD51 homolog 2 isoform 3

    See identical proteins and their annotated locations for NP_598193.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript. It encodes the isoform (3) that has a distinct C-terminus, compared to isoform 1 and 2.
    Source sequence(s)
    AL121820, AL597484, BC030219, BQ101024, BX248766, CK823089
    Consensus CDS
    CCDS9789.1
    UniProtKB/Swiss-Prot
    O15315
    Related
    ENSP00000419471.1, ENST00000487270.5
    Conserved Domains (1) summary
    cd01123
    Location:83343
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
  12. NM_133510.4NP_598194.1  DNA repair protein RAD51 homolog 2 isoform 2

    See identical proteins and their annotated locations for NP_598194.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate exon at the 3' end compared to the longest variant (3). The resulting isoform (2) has a distinct and shorter C-terminus, as compared to isoform 3.
    Source sequence(s)
    AL597484, BX161515, Y15571
    Consensus CDS
    CCDS9790.1
    UniProtKB/Swiss-Prot
    O15315
    Related
    ENSP00000418859.1, ENST00000471583.5
    Conserved Domains (2) summary
    cd01123
    Location:83343
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam08423
    Location:65342
    Rad51; Rad51

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    67819779..68683118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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