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FLASH GENE

Symbol

RAD51B

contributors: mct/pgu - updated : 28-03-2020

HGNC name	RAD51-like 1 (S. cerevisiae)
HGNC id	9822

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	14q24.1      Physical location : -
Synonym name	RAD51 homolog B
	RecA-like protein
	recombination repair protein
	DNA repair protein RAD51 homolog 2
Synonym symbol(s)	REC2, R51H2, hREC2, MGC34245, RAD51L1

DNA

TYPE	functioning gene
STRUCTURE	776.11 kb     11 Exon(s)

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002877 11 - 1875 NP_002868 38.1 350 - 2003 12441335 NM_133510 11 - 1566 NP_598194 38.1 350 - 2003 12441335 NM_133509 11 - 2513 NP_598193 42.1 384 - 2003 12441335

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen           thymus         Endocrine thyroid       highly Reproductive female system breast mammary gland   highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a putative nuclear localization signal (NLS)
	two ATP binding domains (A and B boxes)

HOMOLOGY

interspecies	homolog to murine Rad51l1 (85.8pc)
	homolog to rattus Rad51l1 (81.2pc)

intraspecies

paralog to RAD51

Homologene

FAMILY	recA family
	RAD51 subfamily

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	involved in the homologous recombination repair 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
	RAD51L1-RAD51C dimer exhibits single-stranded DNA-dependent ATPase activity
	may have a specific function in holliday junction processing in the homologous recombinational repair pathway
	proper biallelic expression is required for the maintenance of chromosome integrity in human cells
	causing cell cycle G1 delay and cell apoptosis upon overexpression
	role in sensing DNA damage
	RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3, play an essential role in the DNA repair reactions through homologous recombination
	RAD51B and RAD51C act early in homologous recombination
	RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3 are key enzymes for DNA double-strand break repair
	RAD51B, RAD51C, RAD51D, XRCC2, XRCC3 sequentially orchestrate clinically relevant transactions at replication forks, cooperatively promoting fork remodeling and restart
	role played by RAD51B and GID4 in telomere elongation in sarcomas

CELLULAR PROCESS	cell cycle,division,meiosis
	cell cycle, division, mitosis
	nucleotide, repair, recombination

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

pathway in cells for the repair of severe DNA damage such as double-strand breaks

a component	part of a BCDX2 complex consisting of RAD51L1, RAD51C, RAD51D, XRCC2 and XRCC3
	part of a complex with RAD51C and RAD51
	member of the BCDX2 protein complex—comprising RAD51B, RAD51C, RAD51D, and XRCC2—which is thought to have several functions in HR, including stabilization of RAD51 nucleoprotein filaments

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	heterodimerizing with RAD51C, which further interacts with RAD51, XRCC2, XRCC3 in the BCDX2 complex
	HELQ is associated with the RAD51 paralogs RAD51B/C/D and XRCC2, and with the DNA damage-responsive kinase ATR

cell & other

REGULATION

induced by

ionizing radiations

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       RAD51L1/HMGIC fusion in uterine leiomyoma in t(12;14)(q15;q24) tumoral   translocation     translocation t(6;14) (p21.3-q24) in pulmonary chondroid hamartoma constitutional     --low   haploinsufficiency leads to centrosome fragmentation and aneuploidy tumoral germinal mutation       germinal deleterious variants in the RAD51 paralogs to breast and ovarian cancers

Susceptibility

to male breast cancer

Variant & Polymorphism SNP	SNP associated with breast cancer
	a SNP in RAD51B at 14q24.1 was significantly associated with male breast cancer risk

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS