FBN2 (fibrillin 2)

基因基本信息

基因基本信息

symbol:
FBN2
locus group:
protein-coding gene
location:
5q23.3
gene_family:
alias symbol:
DA9
alias name:
fibrillin 5
entrez id:
2201
ensembl gene id:
ENSG00000138829
ucsc gene id:
uc063gqk.1
refseq accession:
NM_001999
hgnc_id:
HGNC:3604
approved reserved:
1991-08-21

基因染色体位置

基因染色体位置

5q23.3

基因简述

基因简述

FBN2基因编码原纤维蛋白-2（fibrillin-2），属于原纤维蛋白基因家族，该家族还包括FBN1和FBN3。原纤维蛋白家族成员是细胞外基质的重要组成成分，主要参与微纤维的形成，为弹性纤维提供支架结构，并在组织发育和稳态中发挥关键作用。FBN2主要在胚胎发育阶段高表达，对肢体、骨骼、心血管系统等器官的形成至关重要。FBN2蛋白通过调节TGF-β（转化生长因子-β）信号通路的活性影响细胞增殖和分化。FBN2基因突变会导致先天性挛缩性蜘蛛指症（CCA，又称Beals综合征），表现为关节挛缩、蜘蛛指（趾）、脊柱侧弯和耳廓畸形等症状，这些症状与FBN1突变引起的马凡综合征有部分重叠但又有区别。FBN2突变通常影响蛋白的钙结合表皮生长因子样结构域，破坏微纤维组装，进而干扰组织发育。FBN2过表达可能增强TGF-β信号传导，导致细胞外基质过度沉积，影响组织弹性；而FBN2表达降低则可能削弱微纤维网络，造成结缔组织脆弱。FBN2与FBN1功能部分冗余，但FBN2在胚胎发育中的作用更为突出。该基因还与某些先天性心脏病和骨骼发育异常相关。研究FBN2有助于理解结缔组织疾病的分子机制，并为相关遗传病的诊断和治疗提供靶点。

中文English

由该基因编码的蛋白质是结缔组织的微纤维的组分和可能涉及弹性纤维组件。在这个基因的突变导致先天性挛缩细长指。 [由RefSeq的，2008年7月提供]

OMIM数据库中对FBN2基因的介绍     Wikipedia数据库中对FBN2基因的介绍

基因序列

基因序列

FBN2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
1MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP
41QPPPQQVRSA TAGSEGGFLA PEYREEGAAV ASRVRRRGQQ
81 DVLRGPNVC GSRFHSYCCP GWKTLPGGNQ CIVPICRNSC
121GDGFCSRPNM CTCSSGQISS TCGSKSIQQC SVRCMNGGTC
161A DDHCQCQK GYIGTYCGQP VCENGCQNGG RCIGPNRCAC
201VYGFTGPQCE RDYRTGPCFT QVNNQMCQGQ LTGIVCTKTL
241CC ATIGRAW GHPCEMCPAQ PQPCRRGFIP NIRTGACQDV
281DECQAIPGIC QGGNCINTVG SFECRCPAGH KQSETTQKCE
321DID ECSIIP GICETGECSN TVGSYFCVCP RGYVTSTDGS
361RCIDQRTGMC FSGLVNGRCA QELPGRMTKM QCCCEPGRCW
401GIGT IPEAC PVRGSEEYRR LCMDGLPMGG IPGSAGSRPG
441GTGGNGFAPS GNGNGYGPGG TGFIPIPGGN GFSPGVGGAG
481VGAGG QGPI ITGLTILNQT IDICKHHANL CLNGRCIPTV
521SSYRCECNMG YKQDANGDCI DVDECTSNPC TNGDCVNTPG
561SYYCKC HAG FQRTPTKQAC IDIDECIQNG VLCKNGRCVN
601TDGSFQCICN AGFELTTDGK NCVDHDECTT TNMCLNGMCI
641NEDGSFK CI CKPGFVLAPN GRYCTDVDEC QTPGICMNGH
681CINSEGSFRC DCPPGLAVGM DGRVCVDTHM RSTCYGGIKK
721GVCVRPFP G AVTKSECCCA NPDYGFGEPC QPCPAKNSAE
761FHGLCSSGVG ITVDGRDINE CALDPDICAN GICENLRGSY
801RCNCNSGYE PDASGRNCID IDECLVNRLL CDNGLCRNTP
841GSYSCTCPPG YVFRTETETC EDINECESNP CVNGACRNNL
881GSFNCECSPG SKLSSTGLI CIDSLKGTCW LNIQDSRCEV
921NINGATLKSE CCATLGAAWG SPCERCELDT ACPRGLARIK
961GVTCEDVNEC E VFPGVCPN GRCVNSKGSF HCECPEGLTL
1001DGTGRVCLDI RMEQCYLKWD EDECIHPVPG KFRMDACCCA
1041VGAAWGTECE EC PKPGTKE YETLCPRGAG FANRGDVLTG
1081RPFYKDINEC KAFPGMCTYG KCRNTIGSFK CRCNSGFALD
1121MEERNCTDID ECR ISPDLC GSGICVNTPG SFECECFEGY
1161ESGFMMMKNC MDIDECERNP LLCRGGTCVN TEGSFQCDCP
1201LGHELSPSRE DCVD INECS LSDNLCRNGK CVNMIGTYQC
1241SCNPGYQATP DRQGCTDIDE CMIMNGGCDT QCTNSEGSYE
1281CSCSEGYALM PDGRS CADI DECENNPDIC DGGQCTNIPG
1321EYRCLCYDGF MASMDMKTCI DVNECDLNSN ICMFGECENT
1361KGSFICHCQL GYSVKK GTT GCTDVDECEI GAHNCDMHAS
1401CLNIPGSFKC SCREGWI
结构预测来自 AlphaFold DB（UniProt: P35556），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

FBN2基因的碱基突变：           仅显示部分snp
rs7288       rs13305       rs26023       rs26024       rs26025       rs26378       rs27456       rs27457       rs27713       rs27754       rs27855       rs27858       rs27859       rs27913       rs28114       rs32205       rs32206      

基因表达

基因表达

FBN2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
AGAAATGTGAAGTCCATGTGG
59
GAAGGTATAGTCTGGAAGGGAG
59
TATTGTGGACAACCTGTCTG
57
CATAAACACAAGCACAGCG
58
CTACAGCAGGCTCTGAAGG
60
TTCTACAAATCGGGACAATGC
59
GTGCATTGTCCTTCAGCAG
60
TATCCTTTCTGGCACTGGC
60
TGTGGACAACCTGTCTGTG
59
GTGAACCCATAAACACAAGCA
59
CATCAATGAAGATGGCAGC
57
CATCAACATCAGTACAGTAACG
57
CTACAGCAGGCTCTGAAGG
60
TTCTACAAATCGGGACAATGC
59
TGGAAGAGTACAGCCTTTCC
60
GGAACTTGTGCACTGATGTG
60
GATGCATGAATGGTGGGAC
59
CATAAACACAAGCACACGGT
60
CACAGGATGTACAGATGTGG
58
CCTGGGATATTCAGACATGAG
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

FBN2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

FBN2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005201
A0A087WV40 (UniProtKB)
IEA
GO:0005509
A0A087WV40 (UniProtKB)
IEA
GO:0005578
A0A087WV40 (UniProtKB)
IEA
GO:0005201
A0A087WYV8 (UniProtKB)
IEA
GO:0005509
A0A087WYV8 (UniProtKB)
IEA
GO:0005578
A0A087WYV8 (UniProtKB)
IEA
GO:0005201
D6REJ2 (UniProtKB)
IEA
GO:0005509
D6REJ2 (UniProtKB)
IEA
GO:0005578
D6REJ2 (UniProtKB)
IEA
GO:0005201
D6RJI3 (UniProtKB)
IEA
GO:0005509
D6RJI3 (UniProtKB)
IEA
GO:0005578
D6RJI3 (UniProtKB)
IEA
GO:0005201
E9PHW4 (UniProtKB)
IEA
GO:0005509
E9PHW4 (UniProtKB)
IEA
GO:0005578
E9PHW4 (UniProtKB)
IEA
GO:0001527
P35556 (UniProtKB)
TAS
GO:0001527
P35556 (UniProtKB)
IDA
GO:0005201
P35556 (UniProtKB)
IBA
GO:0005509
P35556 (UniProtKB)
IEA
GO:0005515
P35556 (UniProtKB)
IPI
GO:0005515
P35556 (UniProtKB)
IPI
GO:0005515
P35556 (UniProtKB)
IPI
GO:0005515
P35556 (UniProtKB)
IPI
GO:0005576
P35556 (UniProtKB)
TAS
GO:0005576
P35556 (UniProtKB)
TAS
GO:0005576
P35556 (UniProtKB)
TAS
GO:0005576
P35556 (UniProtKB)
TAS
GO:0005576
P35556 (UniProtKB)
TAS
GO:0005576
P35556 (UniProtKB)
TAS
GO:0005576
P35556 (UniProtKB)
TAS
GO:0005576
P35556 (UniProtKB)
TAS
GO:0005576
P35556 (UniProtKB)
TAS
GO:0022617
P35556 (UniProtKB)
TAS
GO:0030023
P35556 (UniProtKB)
IC
GO:0030198
P35556 (UniProtKB)
TAS
GO:0030326
P35556 (UniProtKB)
IEA
GO:0030501
P35556 (UniProtKB)
ISS
GO:0031012
P35556 (UniProtKB)
IDA
GO:0035583
P35556 (UniProtKB)
ISS
GO:0043010
P35556 (UniProtKB)
IEP
GO:0045669
P35556 (UniProtKB)
ISS
GO:0048048
P35556 (UniProtKB)
IEP
GO:0060346
P35556 (UniProtKB)
ISS
GO:0090287
P35556 (UniProtKB)
IBA

基因相关microRNA

基因相关microRNA

可能调控 FBN2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
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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
Congenital contractural arachnodactyly 0.57078173 33 8 BeFree_CLINVAR_CTD_human_GAD_MGD_ORPHANET_UNIPROT
Colorectal Neoplasms 0.12 1 0 CTD_human
Early severe fetal akinesia sequence 0.12 0 1 CLINVAR
MACULAR DEGENERATION, EARLY-ONSET 0.12 1 0 UNIPROT
Neonatal Death 0.12 0 1 CLINVAR
Marfan Syndrome 0.005981653 13 0 BeFree_LHGDN
Intracranial Aneurysm 0.003181358 3 0 BeFree_GAD
Diabetes Mellitus 0.002638474 1 2 BeFree_GAD
Coronary Artery Disease 0.002638474 1 10 BeFree_GAD
Age related macular degeneration 0.002638474 1 1 BeFree_GAD

基因相关文献

基因相关文献

RNA-Seq of Gingival Fibroblasts Grown on Collagen Membranes and Hyaluronic Acid.
Panahipour L, Huang X, Gruber R J Funct Biomater 2026-01-23
Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.
Deng X, Zheng Y, Wang J, Shen F, Luo J, Liu C, Yang G, Yang Y J Med Genet IF: 3.4 2026-07-06
Cardiovascular and Clinical Manifestations of Marfan Syndrome and Other Inherited Connective Tissue Disorders with Coexisting Genetic Variants.
Soto ME, Vargas-Alarcón G, Huesca-Gómez C, Pérez-Torres I, Arias-Godínez JA, Meza-Toledo SE, Mora-Cervantes R, Rodríguez-Zanella H, Meléndez-Ramírez G, Manzano-Pech L, Fuentevilla-Álvarez G, Gamboa R Cells 2026-05-29
Extracellular matrix gene variants and susceptibility to sport-related musculoskeletal injuries.
Kabelis P, Rzeszutko-Bełzowska A, Leońska-Duniec A J Appl Genet IF: 2.1 2026-05-29
Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity.
Wang NM, Cheng ZB, Yu X, Wang YN, Wang ZX, Yao RC, Jin X, Jin JY Front Med (Lausanne) None
Genetic Polymorphisms in Systemic Lupus Erythematosus and Their Clinical Implications: A Narrative Review.
Egan AM, Johdi NA, Azizan EA, Mohd R, Rajalingham S, Shaharir SS, Zailani MAH Int J Mol Sci IF: 3.226 2026-04-29
Integrated clinicopathological, genomic, and immunophenotypic landscape of renal tubulocystic oncocytoma.
Wang W, Zhu H, Chen C, Sun M, Wang H, Tai Y, Chen S, Liu Z, Fan B, Li Y Front Immunol IF: 7.0 None
POGLUT2 and POGLUT3: Two essential protein O-glucosyltransferases modifying EGF repeats in extracellular matrix proteins.
Kegley NR, Holdener BC, Haltiwanger RS Biochim Biophys Acta Gen Subj IF: 2.9 2026-06-00
Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease.
Lee H, Kim Y, Kim MS, Lee KA, Song SW Interdiscip Cardiovasc Thorac Surg 2026-05-05

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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