Human Gene RAD51B (ENST00000488612.5) Description and Page Index
  Description: 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. The RAD51B- RAD51C dimer exhibits single-stranded DNA-dependent ATPase activity. The BCDX2 complex binds single-stranded DNA, single- stranded gaps in duplex DNA and specifically to nicks in duplex DNA. (from UniProt O15315)
RefSeq Summary (NM_001321818): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.613453.1, SRR1660803.207044.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END##
Gencode Transcript: ENST00000488612.5
Gencode Gene: ENSG00000182185.18
Transcript (Including UTRs)
   Position: hg38 chr14:67,819,829-68,730,218 Size: 910,390 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr14:67,823,544-68,650,845 Size: 827,302 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:67,819,829-68,730,218)mRNA (may differ from genome)Protein (366 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtPubMedReactomeStanford SOURCE
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: RA51B_HUMAN
DESCRIPTION: RecName: Full=DNA repair protein RAD51 homolog 2; Short=R51H2; AltName: Full=RAD51 homolog B; Short=Rad51B; AltName: Full=RAD51-like protein 1;
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. The RAD51B- RAD51C dimer exhibits single-stranded DNA-dependent ATPase activity. The BCDX2 complex binds single-stranded DNA, single- stranded gaps in duplex DNA and specifically to nicks in duplex DNA.
SUBUNIT: Interacts with RAD51C. Part of a BCDX2 complex consisting of RAD51B, RAD51C, RAD51D and XRCC2. Part of a complex consisting of RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3. Part of a complex with RAD51C and RAD51. Interacts with SWSAP1; involved in homologous recombination repair.
INTERACTION: Q6NVH7:SWSAP1; NbExp=2; IntAct=EBI-2824089, EBI-5281637;
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Expressed in a wide range of tissues.
DISEASE: Note=A chromosomal aberration involving RAD51B is found in pulmonary chondroid hamartoma. Translocation t(6;14)(p21;q23- 24) with HMGA1.
DISEASE: Note=A chromosomal aberration involving RAD51B is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with HMGA2.
SIMILARITY: Belongs to the RecA family. RAD51 subfamily.
SEQUENCE CAUTION: Sequence=CAD62357.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAD66573.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rad51l1/";

-  MalaCards Disease Associations
  MalaCards Gene Search: RAD51B
Diseases sorted by gene-association score: leiomyoma (13), uterine fibroid (9), uterine benign neoplasm (7), reproductive organ benign neoplasm (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.75 RPKM in Uterus
Total median expression: 23.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.8027-0.104 Picture PostScript Text
3' UTR -95.60422-0.227 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR013632 - DNA_recomb/repair_Rad51_C
IPR016467 - DNA_recomb/repair_RecA-like
IPR020588 - DNA_recomb_RecA/RadB_ATP-bd

Pfam Domains:
PF08423 - Rad51

ModBase Predicted Comparative 3D Structure on O15315
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI Ensembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000150 recombinase activity
GO:0000166 nucleotide binding
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003697 single-stranded DNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008094 DNA-dependent ATPase activity
GO:0000400 four-way junction DNA binding
GO:0004520 endodeoxyribonuclease activity

Biological Process:
GO:0000707 meiotic DNA recombinase assembly
GO:0000724 double-strand break repair via homologous recombination
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006312 mitotic recombination
GO:0006974 cellular response to DNA damage stimulus
GO:0007131 reciprocal meiotic recombination
GO:0007596 blood coagulation
GO:0010212 response to ionizing radiation
GO:0010971 positive regulation of G2/M transition of mitotic cell cycle
GO:0042148 strand invasion

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005657 replication fork
GO:0033063 Rad51B-Rad51C-Rad51D-XRCC2 complex


-  Descriptions from all associated GenBank mRNAs
  AK309787 - Homo sapiens cDNA, FLJ99828.
U92074 - Human RecA-like protein (hREC2) mRNA, complete cds.
U84138 - Homo sapiens DNA repair protein RAD51B mRNA, complete cds.
Y15571 - Homo sapiens mRNA for recombination repair protein (R51H2).
BC030219 - Homo sapiens RAD51-like 1 (S. cerevisiae), mRNA (cDNA clone MGC:34245 IMAGE:5206768), complete cds.
BX161515 - human full-length cDNA clone CS0DL003YE20 of B cells (Ramos cell line) of Homo sapiens (human).
BX248766 - human full-length cDNA 5-PRIME end of clone CS0DD005YC06 of Neuroblastoma of Homo sapiens (human).
BX248061 - human full-length cDNA clone CS0DJ004YI08 of T cells (Jurkat cell line) of Homo sapiens (human).
CU688846 - Synthetic construct Homo sapiens gateway clone IMAGE:100018189 5' read RAD51L1 mRNA.
KJ891975 - Synthetic construct Homo sapiens clone ccsbBroadEn_01369 RAD51B gene, encodes complete protein.
AB528442 - Synthetic construct DNA, clone: pF1KB6512, Homo sapiens RAD51L1 gene for RAD51-like 1, without stop codon, in Flexi system.
DQ894081 - Synthetic construct Homo sapiens clone IMAGE:100008541; FLH167470.01L; RZPDo839B0189D RAD51-like 1 (S. cerevisiae) (RAD51L1) gene, encodes complete protein.
DQ890926 - Synthetic construct clone IMAGE:100003556; FLH167474.01X; RZPDo839B0190D RAD51-like 1 (S. cerevisiae) (RAD51L1) gene, encodes complete protein.
CR536560 - Homo sapiens full open reading frame cDNA clone RZPDo834E1220D for gene RAD51L1, RAD51-like 1 (S. cerevisiae); complete cds, incl. stopcodon.
AK310686 - Homo sapiens cDNA, FLJ17728.
AY138857 - Homo sapiens clone C93 HMGA2/RAD51L1 fusion (HMGA2/RAD51L1 fusion) mRNA, partial cds.
AY138858 - Homo sapiens clone D30 HMGA2/RAD51L1 fusion (HMGA2/RAD51L1 fusion) mRNA, partial cds.
AY138859 - Homo sapiens clone A5 HMGA2/RAD51L1 fusion (HMGA2/RAD51L1 fusion) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03440 - Homologous recombination

Reactome (by CSHL, EBI, and GO)

Protein O15315 (Reactome details) participates in the following event(s):

R-HSA-983285 RAD51B binds RAD51C
R-HSA-5685318 BCDX2 complex formation
R-HSA-983218 RAD51B:RAD51C binds single-stranded DNA
R-HSA-5685341 BCDX2 complex stabilizes RAD51 filament
R-HSA-5686410 BLM mediates dissolution of double Holliday junction
R-HSA-5693589 D-loop dissociation and strand annealing
R-HSA-5693620 D-loop formation mediated by PALB2, BRCA2 and RAD51
R-HSA-5685838 CX3 complex binds D-loop structures
R-HSA-5693593 D-loop extension by DNA polymerases
R-HSA-5693584 Cleavage of Holliday junctions by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2)
R-HSA-5686440 MUS81:EME1,EME2 cleaves D-loop
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-109582 Hemostasis
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693537 Resolution of D-Loop Structures
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
R-HSA-5693538 Homology Directed Repair
R-HSA-5693532 DNA Double-Strand Break Repair
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: BX248061, O15315, O60914, O75210, Q3Y4F8, Q6FHX8, Q86SY3, Q86SY4, Q86TR0, Q86U92, Q86U93, Q86U94, Q8N6H4, Q9UPL5, RA51B_HUMAN, RAD51L1, REC2, uc001xkg.1, uc001xkg.2, uc001xkg.3
UCSC ID: uc001xkg.3
RefSeq Accession: NM_001321818
Protein: O15315 (aka RA51B_HUMAN or R51B_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.