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    BRCA2 BRCA2 DNA repair associated [ Homo sapiens (human) ]

    Gene ID: 675, updated on 10-Dec-2024

    Summary

    Official Symbol
    BRCA2provided by HGNC
    Official Full Name
    BRCA2 DNA repair associatedprovided by HGNC
    Primary source
    HGNC:HGNC:1101
    See related
    Ensembl:ENSG00000139618 MIM:600185; AllianceGenome:HGNC:1101
    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
    FAD; FACD; FAD1; GLM3; BRCC2; FANCD; PNCA2; FANCD1; XRCC11; BROVCA2
    Summary
    Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]
    Expression
    Broad expression in bone marrow (RPKM 2.9), testis (RPKM 2.2) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BRCA2 in Genome Data Viewer
    Location:
    13q13.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (32315077..32400268)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (31532322..31617510)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32889214..32974405)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5245 Neighboring gene FRY antisense RNA 1 Neighboring gene FRY microtubule binding protein Neighboring gene Sharpr-MPRA regulatory region 2624 Neighboring gene NANOG hESC enhancer GRCh37_chr13:32716946-32717447 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:32739396-32740595 Neighboring gene Sharpr-MPRA regulatory region 7321 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:32784277-32785476 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:32827763-32828962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5247 Neighboring gene BRCA2 promoter/silencer region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7554 Neighboring gene zygote arrest 1 like Neighboring gene Sharpr-MPRA regulatory region 1962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7556 Neighboring gene interferon induced protein with tetratricopeptide repeats 1 pseudogene 1 Neighboring gene small nucleolar RNA SNORA16B/SNORA16A family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7559 Neighboring gene NEDD4 binding protein 2 like 1 Neighboring gene NEDD4 binding protein 2 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7560 Neighboring gene ATPase phospholipid transporting 8A2 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (352 hits/1287 screens)

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in BRCA2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-14)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-07-14)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog
    Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 30
    Process Evidence Code Pubs
    involved_in DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator  
    involved_in brain development  
    involved_in cellular response to ionizing radiation PubMed 
    involved_in cellular senescence  
    involved_in centrosome duplication PubMed 
    involved_in chromatin remodeling  
    involved_in double-strand break repair PubMed 
    involved_in double-strand break repair via homologous recombination  
    involved_in double-strand break repair via homologous recombination PubMed 
    involved_in double-strand break repair via homologous recombination PubMed 
    involved_in establishment of protein localization to telomere PubMed 
    involved_in female gonad development  
    involved_in hematopoietic stem cell proliferation  
    involved_in inner cell mass cell proliferation  
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  
    involved_in male meiosis I  
    involved_in mitotic recombination-dependent replication fork processing PubMed 
    involved_in negative regulation of mammary gland epithelial cell proliferation PubMed 
    involved_in nucleotide-excision repair PubMed 
    involved_in oocyte maturation  
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of mitotic cell cycle  
    involved_in regulation of DNA damage checkpoint PubMed 
    involved_in regulation of DNA-templated transcription  
    involved_in regulation of cytokinesis  
    involved_in response to UV-C  
    involved_in response to X-ray  
    involved_in response to gamma radiation  
    involved_in spermatogenesis  
    involved_in telomere maintenance via recombination  
    Items 1 - 25 of 30
    Component Evidence Code Pubs
    part_of BRCA2-MAGE-D1 complex PubMed 
    part_of DNA repair complex PubMed 
    located_in centrosome PubMed 
    located_in chromosome, telomeric region PubMed 
    located_in cytosol  
    located_in cytosol  
    located_in lateral element PubMed 
    part_of nuclear ubiquitin ligase complex PubMed 
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 
    located_in nucleus PubMed 
    part_of protein-containing complex PubMed 
    located_in secretory granule PubMed 

    General protein information

    Preferred Names
    breast cancer type 2 susceptibility protein
    Names
    BRCA1/BRCA2-containing complex, subunit 2
    BRCA2 DNA repair associated protein
    DNA repair-associated BRCA2
    Fanconi anemia group D1 protein
    breast and ovarian cancer susceptibility gene, early onset
    breast and ovarian cancer susceptibility protein 2
    breast cancer 2 tumor suppressor
    breast cancer 2, early onset
    mutant BRCA2
    mutant DNA repair-associated protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012772.3 RefSeqGene

      Range
      5001..89193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_293

    mRNA and Protein(s)

    1. NM_000059.4 → NP_000050.3  breast cancer type 2 susceptibility protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL137247, AL445212
      Consensus CDS
      CCDS9344.1
      UniProtKB/Swiss-Prot
      O00183, O15008, P51587, Q13879, Q5TBJ7
      UniProtKB/TrEMBL
      A0A386IN23, A0A7P0T9D7
      Related
      ENSP00000369497.3, ENST00000380152.8
      Conserved Domains (5) summary
      cd04494
      Location:2804 → 3054
      BRCA2DBD_OB2; A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino acid C-terminal ssDNA binding domain (DBD) of BRCA2 (breast cancer susceptibility gene 2) protein, called BRCA2DBD. BRCA2 participates in homologous recombination-mediated ...
      pfam00634
      Location:1213 → 1243
      BRCA2; BRCA2 repeat
      pfam09103
      Location:2670 → 2793
      BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
      pfam09104
      Location:3054 → 3186
      BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
      pfam09169
      Location:2481 → 2667
      BRCA-2_helical; BRCA2, helical
    2. NM_001406719.1 → NP_001393648.1  breast cancer type 2 susceptibility protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL137247, AL445212
      UniProtKB/TrEMBL
      A0A386IN23
    3. NM_001406720.1 → NP_001393649.1  breast cancer type 2 susceptibility protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL137247, AL445212
      UniProtKB/TrEMBL
      A0A386IN23, A0A8V8TPZ2
      Related
      ENSP00000514856.2, ENST00000700202.2
    4. NM_001406721.1 → NP_001393650.1  breast cancer type 2 susceptibility protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL137247, AL445212
    5. NM_001406722.1 → NP_001393651.1  breast cancer type 2 susceptibility protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL137247, AL445212
    6. NM_001432077.1 → NP_001419006.1  breast cancer type 2 susceptibility protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL137247, AL445212
      UniProtKB/Swiss-Prot
      O00183, O15008, P51587, Q13879, Q5TBJ7
      UniProtKB/TrEMBL
      A0A386IN23, A0A7P0T9D7
      Related
      ENSP00000439902.1, ENST00000544455.6

    RNA

    1. NR_176251.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL137247, AL445212
      Related
      ENST00000528762.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      32315077..32400268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      31532322..31617510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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