Human Prostate Gene DataBase

Name breast cancer 2, early onset
Symbol BRCA2
Gene Product
  • breast cancer 2, early onset
  • Mutation in Prostate cancer
  • Polymorphism in Prostate cancer
SummaryMutations in BRCA1 and BRCA2 have been linked to an elevated risk of young onset breast cancer which has been demonstrated to be due to the inheritance of dominant susceptibility genes conferring a high risk of the disease. Unlike BRCA1, BRCA2 has not been linked to ovarian cancer. While BRCA1 mutations are typically microinsertions and point mutations, BRCA2 mutations are typically microdeletions. BRCA2 putatively functions as a tumor suppressor gene, however, its exact function has not been well characterized. The similarity of, and functional analysis of, BRCA2 and BRCA1 proteins, suggests that these proteins function in the same genetic pathway. BRCA1 and BRCA2 have transcriptional activation potential and the two proteins are associated with the activation of double-strand break repair and/or homologous recombination. The two proteins have been shown to coexist and colocalize in a biochemical complex.
Gene Ontology
EST (44 ESTs, 27 libraries)
Tissue ? Frequency ? Count ?
blood (1/27)0.014 1/40686
colon (4/853)0.004 4/165626
embryo (1/19)0.018 1/37976
germ cell (1/7)0.001 1/57383
head and neck (1/990)0.854 1/79796
kidney (2/86)0.008 3/132968
lung (1/312)0.002 1/245386
oral cavity (1/18)0.007 8/44567
stomach (1/312)0.005 1/129930
testis (4/171)0.005 9/117531
uncharacterized tissue (10/1773)1.000 14/713325
SAGE (4147405 tags, 72 libraries)
Tissue ? Frequency ? Count ?
brain (10/19)0.114 15/782545
colon (3/8)0.123 3/163354
eye (4/6)0.221 11/689667
kidney (1/2)0.276 1/32078
lung (1/1)0.124 2/178286
mammary gland (8/19)0.301 11/486189
muscle (1/2)0.041 1/53875
ovary (3/10)0.242 4/155777
pancreas (1/8)0.215 2/94122
prostate (5/13)0.066 6/367458
skin (1/7)1.000 1/8851
stomach (2/3)0.167 4/277331
uncharacterized tissue (9/22)0.327 17/723700
vascular (2/3)0.211 3/134172
SNPrs189979 (G/T:intron);  rs1963505 (A/G:intron);  rs798652 (C/T:intron);  rs542551 (A/G:intron);  rs1475990 (C/T:intron);  rs573014 (C/T:intron);  rs543304 (C/T:coding-nonsyn);  rs396579 (G/A:intron);  rs1029304 (A/G:intron);  rs206067 (G/A:intron);  rs144848 (T/G:coding-nonsyn);  rs206340 (T/C:intron);  rs1799943 (T/G:coding-nonsyn);  rs2219594 (G/T:coding-nonsyn);  rs721185 (C/T:intron);  rs2320236 (C/T:intron);  rs517118 (G/A:intron);  rs1460816 (A/G:intron);  rs798831 (T/C:intron);  rs811637 (A/C:intron);  rs766173 (T/G:coding-nonsyn);  rs206095 (C/T:intron);  rs169546 (A/G:coding-nonsyn);  rs2238162 (C/A:intron);  rs2181677 (C/T:intron);  rs1148319 (A/T:locus-region);  rs15869 (A/C:mrna-utr);  rs3072036 (TTT/-:intron);  rs1380946 (C/T:intron);  rs2227311 (A/T:coding-nonsyn);  rs2126042 (G/A:intron);  rs206114 (C/G:intron);  rs703223 (T/G:intron);  rs1012129 (A/G:intron);  rs206145 (C/T:intron);  rs1046984 (T/C:coding-nonsyn);  rs1801406 (T/C:coding-nonsyn);  rs3092860 (TTAA/-:intron);  rs559067 (C/T:intron);  
EvidenceMutation in Prostate cancer Polymorphism in Prostate cancer

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Department of Urology
Universityof California, San Francisco