BCR (BCR activator of RhoGEF and GTPase)

基因基本信息

基因基本信息

symbol:
BCR
locus group:
protein-coding gene
location:
22q11.23
gene_family:
Pleckstrin homology domain containing|Rho guanine nucleotide exchange factors|C2 domain containing - ungrouped
alias symbol:
D22S662|CML|PHL|ALL
alias name:
None
entrez id:
613
ensembl gene id:
ENSG00000186716
ucsc gene id:
uc002zww.4
refseq accession:
NM_004327
hgnc_id:
HGNC:1014
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

22q11.23

基因简述

基因简述

BCR（B细胞受体，B cell receptor）是B细胞表面的一种重要膜蛋白复合物，由膜结合型免疫球蛋白（mIg）和信号转导亚基Igα/Igβ（CD79a/CD79b）组成，属于免疫球蛋白超家族（Immunoglobulin Superfamily）。它的核心功能是识别抗原并激活B细胞免疫应答。当BCR结合特定抗原后，通过其胞内段的免疫受体酪氨酸激活基序（ITAMs）传递信号，触发B细胞增殖、分化成浆细胞（分泌抗体）或记忆B细胞。BCR的多样性由V(D)J基因重排（一种基因片段随机组合机制）产生，使机体能识别海量抗原。 若BCR基因发生突变，可能导致功能异常。例如：突变使BCR信号过强（如ITAM磷酸化异常）可能引发自身免疫病（如系统性红斑狼疮）；而信号缺陷（如CD79a/b突变）会导致免疫缺陷（如无丙种球蛋白血症）。BCR还与B细胞恶性肿瘤密切相关，例如慢性淋巴细胞白血病（CLL）中BCR信号通路持续激活促进癌细胞存活。 BCR过表达可能引发异常B细胞活化，导致自身抗体产生或淋巴瘤；而低表达会削弱体液免疫，增加感染风险。在基因家族层面，免疫球蛋白超家族的共性包括：含免疫球蛋白样结构域（Ig-like domains，一种保守的β折叠结构）、参与细胞识别或信号传导（如TCR、MHC分子等）。 此外，BCR-ABL融合基因（费城染色体导致）是慢性髓性白血病（CML）的标志，其酪氨酸激酶活性失控，但此“BCR”指断裂点簇区（breakpoint cluster region），与B细胞受体无关，需注意术语差异。

中文English

染色体22和9之间的相互易位产生费城染色体，这往往是在慢性粒细胞性白血病中发现。对于这种易位染色体断点22位于BCR基因内。易位产生被序列从两个BCR和ABL，在9号染色体断点的基因所编码的融合蛋白。虽然BCR-ABL融合蛋白已被广泛研究，正常bcr基因产物的功能尚不清楚。该蛋白质具有丝氨酸/苏氨酸激酶活性，并且是p21rac GTP酶激活蛋白。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的，2008年7月提供]

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

基因序列

基因序列

BCR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
1MVDPVGFAEA WKAQFPDSEP PRMELRSVGD IEQELERCKA
41SIRRLEQEVN QERFRMIYLQ TLLAKEKKSY DRQRWGFRRA
81 AQAPDGASE PRASASRPQP APADGADPPP AEEPEARPDG
121EGSPGKARPG TARRPGAAAS GERDDRGPPA SVAALRSNFE
161R IRKGHGQP GADAEKPFYV NVEFHHERGL VKVNDKEVSD
201RISSLGSQAM QMERKKSQHG AGSSVGDASR PPYRGRSSES
241SC GVDGDYE DAELNPRFLK DNLIDANGGS RPPWPPLEYQ
281PYQSIYVGGM MEGEGKGPLL RSQSTSEQEK RLTWPRRSYS
321PRS FEDCGG GYTPDCSSNE NLTSSEEDFS SGQSSRVSPS
361PTTYRMFRDK SRSPSQNSQQ SFDSSSPPTP QCHKRHRHCP
401VVVS EATIV GVRKTGQIWP NDGEGAFHGD ADGSFGTPPG
441YGCAADRAEE QRRHQDGLPY IDDSPSSSPH LSSKGRGSRD
481ALVSG ALES TKASELDLEK GLEMRKWVLS GILASEETYL
521SHLEALLLPM KPLKAAATTS QPVLTSQQIE TIFFKVPELY
561EIHKEF YDG LFPRVQQWSH QQRVGDLFQK LASQLGVYRA
601FVDNYGVAME MAEKCCQANA QFAEISENLR ARSNKDAKDP
641TTKNSLE TL LYKPVDRVTR STLVLHDLLK HTPASHPDHP
681LLQDALRISQ NFLSSINEEI TPRRQSMTVK KGEHRQLLKD
721SFMVELVE G ARKLRHVFLF TDLLLCTKLK KQSGGKTQQY
761DCKWYIPLTD LSFQMVDELE AVPNIPLVPD EELDALKIKI
801SQIKNDIQR EKRANKGSKA TERLKKKLSE QESLLLLMSP
841SMAFRVHSRN GKSYTFLISS DYERAEWREN IREQQKKCFR
881SFSLTSVELQ MLTNSCVKL QTVHSIPLTI NKEDDESPGL
921YGFLNVIVHS ATGFKQSSNL YCTLEVDSFG YFVNKAKTRV
961YRDTAEPNWN E EFEIELEG SQTLRILCYE KCYNKTKIPK
1001EDGESTDRLM GKGQVQLDPQ ALQDRDWQRT VIAMNGIEVK
1041LSVKFNSREF SL KRMPSRK QTGVFGVKIA VVTKRERSKV
1081PYIVRQCVEE IERRGMEEVG IYRVSGVATD IQALKAAFDV
1121NNKDVSVMMS EMD VNAIAG TLKLYFRELP EPLFTDEFYP
1161NFAEGIALSD PVAKESCMLN LLLSLPEANL LTFLFLLDHL
1201KRVAEKEAVN KMSL HNLAT VFGPTLLRPS EKESKLPANP
1241SQPITMTDSW SLEVMSQVQV LLYFLQLEAI PAPDSKRQSI
1281LFSTEV
结构预测来自 AlphaFold DB（UniProt: P11274），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

BCR基因的碱基突变：           仅显示部分snp
rs9155       rs16802       rs28375       rs131671       rs131672       rs131674       rs131675       rs131676       rs131677       rs131678       rs131679       rs131680       rs131681       rs131682       rs131684       rs131686       rs131688      

基因表达

基因表达

BCR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
AAAGGAATGTCTGAGGAAGCA
60
TTCCGAACGAGCCATAAGG
60
ATGGCCCAGATAACAAGGAC
60
GAAGTACAGCTTCAGCGTG
59
ATGAATGGGATCGAAGTAAAGC
59
AATCTTGACTCCGAAGACCC
60
GAGGTGGATTCCTTTGGGT
59
CTATCTCAAATTCCTCGTTCCAG
59
CCACATCTTTGTCCGTGTG
59
ACGAGCCATCTTTCTGGAG
60
TACAACAAGACGAAGATCCC
57
TCCAGATCCAACCATGAGG
59
CAAGCTCAAGAAGCAGAGC
59
GCGGAATGTACCATTTGCA
59
ACTAAAGCGAGTGAGCTGG
60
TAAGTCTCCTCGCTAGCCA
60
CAGAAGAAGTGTTTCAGAAGC
58
GGACAGTCTGGAGTTTCAC
58
TCACTGACGAGTTCTACCC
59
ATTGACTGCCTCCTTCTCTG
60

转录因子

转录因子

      尚未收录相关数据

基因本体信息

BCR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

BCR基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005089
H0Y554 (UniProtKB)
IEA
GO:0005622
H0Y554 (UniProtKB)
IEA
GO:0035023
H0Y554 (UniProtKB)
IEA
GO:0035556
H0Y554 (UniProtKB)
IEA
GO:0043547
H0Y554 (UniProtKB)
IEA
GO:0043547
H0Y554 (UniProtKB)
IEA
GO:0002692
P11274 (UniProtKB)
IEA
GO:0004674
P11274 (UniProtKB)
IEA
GO:0004713
P11274 (UniProtKB)
TAS
GO:0004713
P11274 (UniProtKB)
TAS
GO:0004713
P11274 (UniProtKB)
TAS
GO:0004713
P11274 (UniProtKB)
TAS
GO:0005089
P11274 (UniProtKB)
IEA
GO:0005096
P11274 (UniProtKB)
TAS
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005515
P11274 (UniProtKB)
IPI
GO:0005524
P11274 (UniProtKB)
IEA
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0005829
P11274 (UniProtKB)
TAS
GO:0006468
P11274 (UniProtKB)
TAS
GO:0007165
P11274 (UniProtKB)
TAS
GO:0007420
P11274 (UniProtKB)
IEA
GO:0014069
P11274 (UniProtKB)
ISS
GO:0016020
P11274 (UniProtKB)
IBA
GO:0016020
P11274 (UniProtKB)
IDA
GO:0016301
P11274 (UniProtKB)
TAS
GO:0018108
P11274 (UniProtKB)
IEA
GO:0019899
P11274 (UniProtKB)
IEA
GO:0030036
P11274 (UniProtKB)
IEA
GO:0030054
P11274 (UniProtKB)
IEA
GO:0032496
P11274 (UniProtKB)
IEA
GO:0035023
P11274 (UniProtKB)
IEA
GO:0035556
P11274 (UniProtKB)
IEA
GO:0042472
P11274 (UniProtKB)
IEA
GO:0043114
P11274 (UniProtKB)
IEA
GO:0043234
P11274 (UniProtKB)
IDA
GO:0043314
P11274 (UniProtKB)
IEA
GO:0043547
P11274 (UniProtKB)
IEA
GO:0045211
P11274 (UniProtKB)
IEA
GO:0046777
P11274 (UniProtKB)
IEA
GO:0048008
P11274 (UniProtKB)
IEA
GO:0050728
P11274 (UniProtKB)
IEA
GO:0050766
P11274 (UniProtKB)
IEA
GO:0050885
P11274 (UniProtKB)
IEA
GO:0051056
P11274 (UniProtKB)
TAS
GO:0051726
P11274 (UniProtKB)
IEA
GO:0060313
P11274 (UniProtKB)
IEA
GO:0070062
P11274 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 BCR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
Reactome
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
Myeloid Leukemia, Chronic 0.39556717 514 3 BeFree_CTD_human_GAD_LHGDN_ORPHANET
Blast Phase 0.144158327 89 2 BeFree_CTD_human
Precursor Cell Lymphoblastic Leukemia Lymphoma 0.140649445 58 0 BeFree_CTD_human_LHGDN
Myeloproliferative disease 0.128153188 21 2 BeFree_CTD_human_LHGDN
Neoplasms, Experimental 0.12 1 0 CTD_human
Chromosome 22q11.2 Deletion Syndrome, Distal 0.12 0 0 ORPHANET
Necrosis 0.12 1 0 CTD_human
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 0.12 0 0 ORPHANET
leukemia 0.051753097 121 1 BeFree_GAD_LHGDN
Leukemia, Myelocytic, Acute 0.027978376 85 0 BeFree_LHGDN

基因相关文献

基因相关文献

The absence of B7-H4 inhibits PD-L1 expression by driving a methylation of PD-L1 promoter in breast cancer cells.
Zhou L, Ruan M, Wu J, Wu Q, Xiao Y, Yu CW, Zhang Q Breast Cancer Res IF: 6.345 2026-04-22
Physiological MplW514L expression in hematopoietic stem cell causes an essential thrombocythemia and progressive myelofibrosis.
Zhang S, Liu J, Li Y, Wang Y, Wang L, Xu M, Li Y, Dong G, Wang S, Li Y, Cai Z, Zhao B J Clin Invest IF: 14.3 2026-06-01
Reference tissue uptake of [18F]PSMA-1007 in positron emission tomography of recurrent prostate cancer.
Abrahamsen BS, Knudtsen IS, Tulipan AJ, Hernes E, Bogsrud TV, Selnæs KM, Johansen H, Bathen TF, Elschot M Eur Radiol IF: 6.0 2026-08-00
Philadelphia Chromosome-Positive B-cell Acute Lymphoblastic Leukemia: A Case Report.
Izadian Bidgoli A, Gomez Veliz A, Yazdanpanah S, Saavedra G, Pina A, Rame G Cureus 2026-03-00
Differentially expressed proteins in plasma-derived extracellular vesicles from chronic myeloid leukemia patients.
Kusma Wosniaki D, Korte de Azevedo AL, Marin AM, Murillo Carrasco AG, Nogueira de Sousa Andrade L, Brant R, Batista M, Bombardelli Gomig TH, Chammas R, Nóbrega Aoki M, Zanette DL Front Genet IF: 2.8 None
A FOXO1-G6PC transcriptional axis restrains renal cell carcinoma progression: multi-omics, epigenetic, and mechanistic evidence.
Wang J, Zhang B, Ha H, Zhang X, Yang S, Luo Y, Du Y, He Y, Li W, Shang P Clin Transl Oncol IF: 2.7 2026-08-00
Therapeutic Drug Monitoring of Imatinib in Paediatric Chronic Myeloid Leukaemia: Towards Practical Implementation and Interpretation of Measured Plasma Concentrations.
Lensker P, Gottschalk A, Zerjatke T, Roeder I, Fromm MF, Dörje F, Suttorp M, Rauh M, Glauche I, Metzler M Clin Pharmacokinet IF: 4.0 2026-07-00
Marital status and post-radical prostatectomy outcomes: results from the SEARCH database.
Burwell A, Ithisuphalap J, Janes JL, Helms VM, Amling CL, Aronson WJ, Cooperberg MR, Kane CJ, Klaassen Z, Terris MK, Rivera LG, Freedland SJ, Sleight AG Support Care Cancer IF: 3.4 2026-05-19
Salvage radiotherapy with or without hormonal therapy for biochemical recurrence after radical prostatectomy: A systematic review and meta-analysis.
Migliaccio F, Flauto F, Barraco C, Neola G, Scagliarini S, Franzese C, Chioccola E, Facchini G, Bianco R, Servetto A, Formisano L Prostate Cancer Prostatic Dis IF: 6.9 2026-05-18

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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