BARD1 (BRCA1 associated RING domain 1)

基因基本信息

基因基本信息

symbol:
BARD1
locus group:
protein-coding gene
location:
2q35
gene_family:
Ankyrin repeat domain containing
alias symbol:
None
alias name:
None
entrez id:
580
ensembl gene id:
ENSG00000138376
ucsc gene id:
uc021vwi.2
refseq accession:
NM_000465
hgnc_id:
HGNC:952
approved reserved:
1998-08-05

基因染色体位置

基因染色体位置

2q35

基因简述

基因简述

BARD1（BRCA1-associated RING domain protein 1）是一种肿瘤抑制基因，与乳腺癌易感基因BRCA1相互作用形成稳定的复合物，共同参与DNA损伤修复、细胞周期调控和染色质重塑等关键生物学过程。BARD1编码的蛋白质包含RING结构域和BRCT结构域，前者介导与BRCA1的结合，后者参与蛋白质相互作用和DNA损伤应答。BARD1-BRCA1复合物通过泛素化修饰调控下游靶蛋白，在维持基因组稳定性中发挥核心作用。BARD1突变可能导致其功能丧失，破坏DNA修复机制，增加基因组不稳定性，显著提升乳腺癌、卵巢癌等恶性肿瘤的发病风险。某些BARD1突变（如Q564X、C557S）已被证实与遗传性乳腺癌/卵巢癌综合征相关。BARD1过表达可能增强DNA修复能力但可能干扰正常细胞周期调控，而表达降低则会导致DNA损伤积累和染色体异常。BARD1还参与调控转录、细胞凋亡和端粒维持，其表达异常可能影响这些过程。BARD1属于RING型E3泛素连接酶基因家族，该家族成员普遍含有RING结构域，具有泛素化修饰底物蛋白的功能，参与蛋白质降解、信号转导和DNA修复等过程。近年研究发现BARD1在多种癌症中存在异常剪接变异体，这些变异体可能具有促癌或抑癌的双重作用，具体机制仍在研究中。除癌症外，BARD1功能异常还与神经发育障碍和心血管疾病存在潜在关联。

中文English

此基因编码与BRCA1的N末端区域相互作用的蛋白质。除了其在体内和体外结合的BRCA1能力??，这股与BRCA1的2最保守区域的同源性：N末端RING基序和C末端BRCT域。环基序在多种调节细胞生长，包括肿瘤抑制基因和显性原癌的产品的蛋白质发现了富含半胱氨酸的序列。这种蛋白中还含有3串联锚蛋白重复。所述BARD1 / BRCA1相互作用是由致瘤性的氨基酸取代中的BRCA1破坏，这意味着这些蛋白质之间形成稳定复合物的形成可以是BRCA1肿瘤抑制的一个重要方面。这种蛋白质可以是乳腺癌或卵巢癌的致癌基因突变的目标。已发现该基因编码不同亚型多重选择性剪接转录变异体。 [由RefSeq的，2013年9月提供]

OMIM数据库中对BARD1基因的介绍     Wikipedia数据库中对BARD1基因的介绍

基因序列

基因序列

BARD1基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA
41LDRLEKLLRC SRCTNILREP VCLGGCEHIF CSNCVSDCIG
81 TGCPVCYTP AWIQDLKINR QLDSMIQLCS KLRNLLHDNE
121LSDLKEDKPR KSLFNDAGNK KNSIKMWFSP RSKKVRYVVS
161K ASVQTQPA IKKDASAQQD SYEFVSPSPP ADVSERAKKA
201SARSGKKQKK KTLAEINQKW NLEAEKEDGE FDSKEESKQK
241LV SFCSQPS VISSPQINGE IDLLASGSLT ESECFGSLTE
281VSLPLAEQIE SPDTKSRNEV VTPEKVCKNY LTSKKSLPLE
321NNG KRGHHN RLSSPISKRC RTSILSTSGD FVKQTVPSEN
361IPLPECSSPP SCKRKVGGTS GRKNSNMSDE FISLSPGTPP
401STLS SSSYR RVMSSPSAMK LLPNMAVKRN HRGETLLHIA
441SIKGDIPSVE YLLQNGSDPN VKDHAGWTPL HEACNHGHLK
481VVELL LQHK ALVNTTGYQN DSPLHDAAKN GHVDIVKLLL
521SYGASRNAVN IFGLRPVDYT DDESMKSLLL LPEKNESSSA
561SHCSVM NTG QRRDGPLVLI GSGLSSEQQK MLSELAVILK
601AKKYTEFDST VTHVVVPGDA VQSTLKCMLG ILNGCWILKF
641EWVKACL RR KVCEQEEKYE IPEGPRRSRL NREQLLPKLF
681DGCYFYLWGT FKHHPKDNLI KLVTAGGGQI LSRKPKPDSD
721VTQTINTV A YHARPDSDQR FCTQYIIYED LCNYHPERVR
761QGKVWKAPSS WFIDCVMSFE LLPLDS
结构预测来自 AlphaFold DB（UniProt: Q99728），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

BARD1基因的碱基突变：           仅显示部分snp
rs280621       rs280622       rs280623       rs723904       rs723905       rs748867       rs748868       rs748869       rs895458       rs895459       rs895460       rs1048108       rs1048171       rs1129804       rs1374230       rs1374231       rs1374232      

基因表达

基因表达

BARD1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
TCGCGTTGTACTAACATTCTG
59
AGAAGATGTGCTCACATCCT
59
AAATTCCTGAAGGTCCACG
58
TTCAGAATCAAGTGCAGCT
57
CTGCTCAGTAATGAACACTGG
59
TTCTGTTGTTCTGAAGACAGC
59
CTCGCGTTGTACTAACATTCTG
60
TTCCAATGCAGTCACTTACAC
59
CTGCTCAGTAATGAACACTGG
59
TTCTGTTGTTCTGAAGACAGC
58
AACAGAGAACAGCTGTTGC
59
AAGGTTGTCCTTTGGATGGT
60
CTCCAGTCCTCAGATAAATGGT
59
AGATTCTGTCAAGGAGCCAC
60
TCGCGTTGTACTAACATTCTG
59
AGAAGATGTGCTCACATCCT
59
AACAGAGAACAGCTGTTGC
58
AAGGTTGTCCTTTGGATGGT
59
CTGAGTTTGACAGTACAGTAACTC
59
TCCATTGAGAATCCCAAGCA
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
BARD1
ESR1
Activation
20060929
BRIP1
BARD1
Unknown
20451671

基因本体信息

BARD1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

BARD1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0008270
A0A087WZ19 (UniProtKB)
IEA
GO:0016567
A0A087WZ19 (UniProtKB)
IEA
GO:0031436
A0A087WZ19 (UniProtKB)
IEA
GO:0043065
A0A087WZ19 (UniProtKB)
IEA
GO:0016567
A0A087X0C6 (UniProtKB)
IEA
GO:0031436
A0A087X0C6 (UniProtKB)
IEA
GO:0043065
A0A087X0C6 (UniProtKB)
IEA
GO:0016567
A0A087X2H0 (UniProtKB)
IEA
GO:0031436
A0A087X2H0 (UniProtKB)
IEA
GO:0043065
A0A087X2H0 (UniProtKB)
IEA
GO:0005654
C9IYG1 (UniProtKB)
IDA
GO:0016567
C9IYG1 (UniProtKB)
IEA
GO:0031436
C9IYG1 (UniProtKB)
IEA
GO:0043065
C9IYG1 (UniProtKB)
IEA
GO:0043231
C9IYG1 (UniProtKB)
IDA
GO:0005654
F6MDI1 (UniProtKB)
IDA
GO:0016567
F6MDI1 (UniProtKB)
IEA
GO:0031436
F6MDI1 (UniProtKB)
IEA
GO:0043065
F6MDI1 (UniProtKB)
IEA
GO:0043231
F6MDI1 (UniProtKB)
IDA
GO:0016567
F8WCG2 (UniProtKB)
IEA
GO:0031436
F8WCG2 (UniProtKB)
IEA
GO:0043065
F8WCG2 (UniProtKB)
IEA
GO:0000151
Q99728 (UniProtKB)
NAS
GO:0000729
Q99728 (UniProtKB)
TAS
GO:0000731
Q99728 (UniProtKB)
TAS
GO:0000732
Q99728 (UniProtKB)
TAS
GO:0001894
Q99728 (UniProtKB)
TAS
GO:0003723
Q99728 (UniProtKB)
IDA
GO:0004842
Q99728 (UniProtKB)
NAS
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005515
Q99728 (UniProtKB)
IPI
GO:0005634
Q99728 (UniProtKB)
IDA
GO:0005634
Q99728 (UniProtKB)
IMP
GO:0005654
Q99728 (UniProtKB)
IDA
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005654
Q99728 (UniProtKB)
TAS
GO:0005737
Q99728 (UniProtKB)
IDA
GO:0006260
Q99728 (UniProtKB)
TAS
GO:0006260
Q99728 (UniProtKB)
TAS
GO:0006303
Q99728 (UniProtKB)
TAS
GO:0006974
Q99728 (UniProtKB)
NAS
GO:0007050
Q99728 (UniProtKB)
NAS
GO:0008270
Q99728 (UniProtKB)
IEA
GO:0016567
Q99728 (UniProtKB)
NAS
GO:0016874
Q99728 (UniProtKB)
IEA
GO:0019900
Q99728 (UniProtKB)
NAS
GO:0031436
Q99728 (UniProtKB)
IDA
GO:0031436
Q99728 (UniProtKB)
IDA
GO:0031436
Q99728 (UniProtKB)
IDA
GO:0031436
Q99728 (UniProtKB)
IDA
GO:0031441
Q99728 (UniProtKB)
NAS
GO:0042325
Q99728 (UniProtKB)
IMP
GO:0042803
Q99728 (UniProtKB)
IPI
GO:0043065
Q99728 (UniProtKB)
IMP
GO:0043066
Q99728 (UniProtKB)
IMP
GO:0043231
Q99728 (UniProtKB)
IDA
GO:0045732
Q99728 (UniProtKB)
NAS
GO:0046826
Q99728 (UniProtKB)
IDA
GO:0046982
Q99728 (UniProtKB)
IPI
GO:0070531
Q99728 (UniProtKB)
IDA
GO:0070531
Q99728 (UniProtKB)
IDA
GO:0070531
Q99728 (UniProtKB)
IDA
GO:0085020
Q99728 (UniProtKB)
IDA
GO:0085020
Q99728 (UniProtKB)
IDA
GO:1901796
Q99728 (UniProtKB)
TAS
GO:0004842
Q99728 (UniProtKB)
IDA
GO:0004842
Q99728 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 BARD1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
加载中…
关联基因 作用方式 资源库来源/分值

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Neuroblastoma 0.251368221 11 15 BeFree_CTD_human_GAD_GWASCAT
Mammary Neoplasms 0.130897401 4 0 CTD_human_LHGDN
Breast Cancer, Familial 0.121085767 4 5 BeFree_CLINVAR
Neoplastic Syndromes, Hereditary 0.12 0 27 CLINVAR
Hereditary Breast and Ovarian Cancer Syndrome 0.12 0 0 ORPHANET
Malignant neoplasm of breast 0.114180608 34 3 BeFree_GAD_MGD
Cachexia 0.08 1 0 RGD
ovarian neoplasm 0.008444493 4 0 BeFree_LHGDN
Breast Carcinoma 0.007871814 29 3 BeFree
Malignant neoplasm of ovary 0.007252986 18 1 BeFree_GAD

基因相关文献

基因相关文献

Assessment of Homologous Recombination System Gene Expression in Chemologically Induced Carcinogenesis In Vivo Models.
Tsyganov MM, Bulatova DZ, Fedorenko AA, Loos DM, Nikiforov PE, Tsydenova IA, Bayanbayeva AA, Sharipkhanova Z, Timoshenko SS, Ibragimova MK Curr Issues Mol Biol IF: 4.1 2026-03-04
(E)-Labda dial-Loaded Nanoparticles for Triple Negative Breast Cancer.
Munir A, Rizwan M, Janbey A Curr Drug Targets IF: 3.5 2026-04-15
Berry-derived gold nanoparticles induce integrated ROS-mediated apoptosis, immune modulation, and transcriptomic remodeling in 4T1 triple-negative cancer cells.
Fagbohun OF, Oladipo AO, Gao C, Olawoye B, Berry RS, Captain JC, Iragena O, McDougle X, Harris RJ, Rollins A, Joseph JS, Fadare OA, Kincaid R Cell Death Discov 2026-04-10
Integrated Liquid Biopsy and Tumor Tissue Genomic Profiling of Appendiceal Cancer: cfDNA Burden, Mutation Landscapes, and Clinical Outcomes.
Patel S, Petrosko P, Gallo PH, Myers M, Gil L, Nolan EJ, Hosseiny SH, Blodgett R, Omstead A, Park H, Dalton E, Sherry C, Goel A, Allen CJ, Zaidi A, Schwartz R, Bartlett DL, Wagner PL, LaFramboise WA Ann Surg Oncol IF: 3.8 2026-07-00
Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection.
Munté E, Rofes P, Millán-Castillo M, Solanes A, Muñoz X, Campos O, Alay A, Ajenjo-Bauza M, Navarro E, de la Morena-Barrio B, Salinas M, Vargas-Parra G, Cuesta R, Moreno-Cabrera JM, Cordero D, Pineda M, Del Valle J, Lázaro C, Feliubadaló L Eur J Hum Genet IF: 4.6 2026-03-16
Comprehensive genomic analysis of non-BRCA familial breast cancer in an Arab population.
Ullah E, Abdel-Razeq H, Bentebbal S, Shaar A, Alajez NM, Saad M, Decock J NPJ Breast Cancer 2026-03-19
Genomic characterization of resistant and relapsed adult B-cell acute lymphoblastic leukemia.
Płotka A, Marcinkowska-Swojak M, Rakoczy M, Zeńczak M, Litowczenko W, Koralewska N, Kanduła Z, Gil L, Handschuh L, Lewandowski K J Appl Genet IF: 2.1 2026-03-26
[Hereditary breast cancer : Syndromes, pathology, clinical aspects].
Lebeau A, Schmutzler R Pathologie (Heidelb) IF: 0.7 2026-09-00

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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