Official symbol | BRCA2 |
Gene id | 675 |
Organism | Homo sapiens |
Official full symbol | BRCA2 DNA repair associated |
Gene type | protein-coding |
Also known as | BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11 |
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. |
Genomic regions | Chromosome 13 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
BRCA2-201 | ENST00000380152.8 | 11954 | 3418aa | Protein coding | CCDS9344 | P51587 | NM_000059.4 | TSL:5, GENCODE basic, APPRIS P1, MANE Select v0.92, |
BRCA2-210 | ENST00000680887.1 | 11880 | 3418aa | Protein coding | CCDS9344 | - | - | APPRIS P1, |
BRCA2-206 | ENST00000544455.6 | 11854 | 3418aa | Protein coding | CCDS9344 | P51587 | - | TSL:1, GENCODE basic, APPRIS P1, |
BRCA2-204 | ENST00000530893.6 | 2011 | 481aa | Protein coding | - | A0A590UJI7 | - | CDS 3' incomplete, TSL:1, |
BRCA2-207 | ENST00000614259.2 | 11763 | 2649aa | Nonsense mediated decay | - | - | - | TSL:2, |
BRCA2-208 | ENST00000665585.1 | 2598 | 438aa | Nonsense mediated decay | - | A0A590UJU6 | - | CDS 5' incomplete, |
BRCA2-202 | ENST00000470094.1 | 842 | 186aa | Nonsense mediated decay | - | H0YE37 | - | CDS 5' incomplete, TSL:5, |
BRCA2-209 | ENST00000666593.1 | 523 | 58aa | Nonsense mediated decay | - | A0A590UJ24 | - | CDS 5' incomplete, |
BRCA2-203 | ENST00000528762.1 | 495 | 64aa | Nonsense mediated decay | - | H0YD86 | - | CDS 5' incomplete, TSL:4, |
BRCA2-205 | ENST00000533776.1 | 523 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | BRCA2 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene BRCA2 had been KO in hek293t cell line. |
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