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中文人类
BRCA2 - BRCA2 DNA Repair Associated
Alias:
FAD
FACD
FAD1
GLM3
BRCC2
FANCD
PNCA2
FANCD1
XRCC11
BROVCA2
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BRCA1和BRCA2基因的遗传突变会增加患乳腺癌或卵巢癌的终身风险。BRCA1和BRCA2都参与维护基因组稳定性，特别是双链DNA修复的同源重组途径。这两个基因中最大的外显子是外显子11，它包含乳腺癌患者中最重要的和最常见的突变。BRCA2基因在人类染色体13q12.3上被发现。BRCA2蛋白包含几个70个氨基酸的BRC基序复制，这些基序介导与在DNA修复中起作用的RAD51重组酶的结合。由于具有BRCA2突变的肿瘤通常表现出野生型等位基因的杂合性丢失（LOH），因此BRCA2被认为是一个肿瘤抑制基因。[由RefSeq提供，2020年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
BRCA2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
