RAD51B RAD51 paralog B [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:9822
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: mouse all
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Genomic context

Location:: 14q24.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (67819779..68683096)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (62026883..62889971)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (68286496..69149813)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RAD51B-AS1 promotes the malignant biological behavior of ovarian cancer through upregulation of RAD51B.
Title: RAD51B-AS1 promotes the malignant biological behavior of ovarian cancer through upregulation of RAD51B.
Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases.
Title: Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases.
Sarcomas With RAD51B Fusions Are Associated With a Heterogeneous Phenotype.
Title: Sarcomas With RAD51B Fusions Are Associated With a Heterogeneous Phenotype.
Structural insights into BCDX2 complex function in homologous recombination.
Title: Structural insights into BCDX2 complex function in homologous recombination.
Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
Title: Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
RAD51B Harbors Germline Mutations Associated With Pancreatic Ductal Adenocarcinoma.
Title: RAD51B Harbors Germline Mutations Associated With Pancreatic Ductal Adenocarcinoma.
Serum Levels of ARMS2, COL8A1, RAD51B, and VEGF and their Correlations in Age-related Macular Degeneration.
Title: Serum Levels of ARMS2, COL8A1, RAD51B, and VEGF and their Correlations in Age-related Macular Degeneration.
TBX15 rs98422, DNM3 rs1011731, RAD51B rs8017304, and rs2588809 Gene Polymorphisms and Associations With Pituitary Adenoma.
Title: TBX15 rs98422, DNM3 rs1011731, RAD51B rs8017304, and rs2588809 Gene Polymorphisms and Associations With Pituitary Adenoma.
Sequential role of RAD51 paralog complexes in replication fork remodeling and restart.
Title: Sequential role of RAD51 paralog complexes in replication fork remodeling and restart.
Here we provide three coherent sets of isogenic mutants, both in transformed and non-transformed human cells. Importantly, using these mutant lines, we report the unanticipated result that RAD51B has a less crucial role in homologous recombination than the other four paralogs, and find that all RAD51 paralogs are critically important for early functions during homologous recombination
Title: Differential Requirements for the RAD51 Paralogs in Genome Repair and Maintenance in Human Cells.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-68637 (e-PCR)
- UniSTS:95493

SHGC-149304 (e-PCR)
- UniSTS:176919

D14S1069 (e-PCR), detects polymorphism
- UniSTS:75800

SHGC-85078 (e-PCR)
- UniSTS:103459

G36048 (e-PCR)
- UniSTS:40997

AF044687 (e-PCR)
- UniSTS:15661

RH118827 (e-PCR)
- UniSTS:138809

D14S1298 (e-PCR)
- UniSTS:22585

SHGC-83454 (e-PCR)
- UniSTS:101946

SHGC-79171 (e-PCR)
- UniSTS:102717

RH118833 (e-PCR)
- UniSTS:138815

D14S854 (e-PCR)
- UniSTS:38986

G35677 (e-PCR)
- UniSTS:43088

G35445 (e-PCR)
- UniSTS:52816

SHGC-145611 (e-PCR)
- UniSTS:174679

G36211 (e-PCR)
- UniSTS:65882

RH44933 (e-PCR)
- UniSTS:96

RH118872 (e-PCR)
- UniSTS:138852

RH124061 (e-PCR)
- UniSTS:138853

PMC310823P14 (e-PCR)
- UniSTS:272746

G36243 (e-PCR)
- UniSTS:32627

G36244 (e-PCR)
- UniSTS:70264

RH122327 (e-PCR)
- UniSTS:137848

RH75459 (e-PCR)
- UniSTS:86651

D14S119 (e-PCR), detects polymorphism
- UniSTS:2429

G32798 (e-PCR)
- UniSTS:117377

WI-11790 (e-PCR)
- UniSTS:61070

SHGC-112295 (e-PCR)
- UniSTS:168597

A009S05 (e-PCR)
- UniSTS:46490

RH45281 (e-PCR)
- UniSTS:74139

D12S1520 (e-PCR)
- UniSTS:154014

D14S726 (e-PCR)
- UniSTS:10662

SHGC-84474 (e-PCR)
- UniSTS:102827

RH123690 (e-PCR)
- UniSTS:135895

D14S1065 (e-PCR), detects polymorphism
- UniSTS:73182

SHGC-58637 (e-PCR)
- UniSTS:94440

RH118931 (e-PCR)
- UniSTS:138217

SHGC-106176 (e-PCR)
- UniSTS:182765

G36163 (e-PCR)
- UniSTS:8432

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent DNA damage sensor activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent activity, acting on DNA	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-dependent activity, acting on DNA	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables 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
contributes_to four-way junction DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA recombination	TAS Traceable Author Statement more info	PubMed
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in blastocyst growth	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of G2/M transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in reciprocal meiotic recombination	TAS Traceable Author Statement more info	PubMed
involved_in somite development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Rad51B-Rad51C-Rad51D-XRCC2 complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
is_active_in replication fork	IBA Inferred from Biological aspect of Ancestor more info
located_in replication fork	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA repair protein RAD51 homolog 2

Names: RAD51 homolog B; RecA-like protein; recombination repair protein

NCBI Reference Sequences (RefSeq)

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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

NG_023267.2 RefSeqGene

Range

5001..663315

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001321809.2 → NP_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:83 → 343

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:65 → 342

Rad51; Rad51
NM_001321810.2 → NP_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:83 → 343

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:65 → 342

Rad51; Rad51
NM_001321812.1 → NP_001308741.1 DNA repair protein RAD51 homolog 2 isoform 5

Status: REVIEWED

Source sequence(s)

AL121595, AL122013, AL589168

Conserved Domains (2) summary

cd01123
Location:83 → 343

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:65 → 342

Rad51; Rad51
NM_001321814.2 → NP_001308743.1 DNA repair protein RAD51 homolog 2 isoform 5

Status: REVIEWED

Source sequence(s)

AL121595, AL122013, AL589168

Conserved Domains (2) summary

cd01123
Location:83 → 343

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:65 → 342

Rad51; Rad51
NM_001321815.1 → NP_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:45 → 305

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:27 → 304

Rad51; Rad51
NM_001321817.2 → NP_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:1 → 224

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 ...
NM_001321818.2 → NP_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 (1) summary

cd19493
Location:91 → 327

Rad51B; RAD51B recombinase
NM_001321819.1 → NP_001308748.1 DNA repair protein RAD51 homolog 2 isoform 8

Status: REVIEWED

Source sequence(s)

AL121595, AL122013, AL589168

Conserved Domains (2) summary

cd01123
Location:83 → 343

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:65 → 342

Rad51; Rad51
NM_001321821.2 → NP_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:83 → 343

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:65 → 342

Rad51; Rad51
NM_002877.6 → NP_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

Related

ENSP00000518559.1, ENST00000460526.6

Conserved Domains (1) summary

cd19493
Location:91 → 327

Rad51B; RAD51B recombinase
NM_133509.5 → NP_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, O60914, O75210, Q3Y4F8, Q6FHX8, Q86SY3, Q86SY4, Q86TR0, Q86U92, Q86U93, Q86U94, Q8N6H4, Q9UPL5

Related

ENSP00000419471.1, ENST00000487270.5

Conserved Domains (1) summary

cd01123
Location:83 → 343

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 ...
NM_133510.4 → NP_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, ENST00000471583.6

Conserved Domains (2) summary

cd01123
Location:83 → 343

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:65 → 342

Rad51; Rad51