TTN (titin)

基因基本信息

基因基本信息

symbol:
TTN
locus group:
protein-coding gene
location:
2q31.2
gene_family:
Fibronectin type III domain containing|I-set domain containing|Immunoglobulin-like domain containing
alias symbol:
CMPD4|FLJ32040|TMD|CMH9|LGMD2J|MYLK5
alias name:
None
entrez id:
7273
ensembl gene id:
ENSG00000155657
ucsc gene id:
uc031rqc.3
refseq accession:
NM_133378
hgnc_id:
HGNC:12403
approved reserved:
1991-06-07

基因染色体位置

基因染色体位置

2q31.2
基因染色体位置图

基因简述

基因简述

TTN基因编码肌联蛋白（titin），这是人体中最大的蛋白质，由超过3.8万个氨基酸组成，主要存在于横纹肌（如骨骼肌和心肌）的肌节（sarcomere）中。肌联蛋白作为分子弹簧，连接Z盘（Z-disc）到M线（M-line），维持肌节的弹性结构和被动张力，并在肌肉收缩和舒张过程中发挥机械传感和信号传导作用。其生物学功能包括稳定肌节组装、调节肌肉硬度、参与机械信号转导（如通过与钙调蛋白和肌肉特异性激酶相互作用）以及影响心脏发育。TTN基因突变可导致多种遗传性肌肉疾病，如胫骨肌营养不良症（TMD）、肢带型肌营养不良2J型（LGMD2J）和扩张型心肌病（DCM），突变类型（如截短突变或错义突变）不同会导致疾病严重程度差异。TTN过表达可能与心肌肥厚相关，而表达降低则可能引发肌无力或心脏功能障碍。该基因属于TTN基因家族，其成员通常编码巨型肌肉蛋白，共同特点是含有大量免疫球蛋白（Ig）和纤维连接蛋白（FN3）结构域，参与细胞骨架组织和力学信号传递。研究还发现TTN与某些癌症（如卵巢癌）的转移相关，可能通过影响细胞机械特性促进侵袭。由于TTN基因庞大（含363个外显子），其突变检测和功能研究具有挑战性，但新一代测序技术推动了相关疾病的诊断和治疗探索。

None

无

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

基因序列

基因序列

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

基因突变

基因突变

TTN基因的碱基突变：           仅显示部分snp
rs990493       rs2046775       rs10206931       rs11681211       rs11690299       rs11892300       rs12693169       rs16866551       rs17428516       rs17453312       rs60287997       rs72957359       rs73040354       rs73040356       rs74642120       rs74954944       rs75993441      

基因表达

基因表达

TTN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
CTGGAGATACTGAAAGTGCCT
60
GTACTACCCTCCAGTACCAC
59
GAACTTACACGTTTGTTGCT
57
ATTGATTCAGGAGCTTCCAG
58
CCTGTCTTGGAAGAGAAACC
58
CCTCAGGTTCTTCATATACTTCTG
59
GCTCAAGAACAGGTAAGAAAGG
59
TTGTTCCTTGGCTTTATCGG
59
AACCTGCAGTACCAGAACC
60
GGTTCAGGAATCTTCCTTTCC
59
CCAACTAAAGTGCCTGAAGTG
60
TTTAGGAGGTGGAGCTTCTG
59
ATGGAAATGAAAGCTGCCC
59
CAGGTGAATTTGGCTAGGTG
59
GACGATATTCCCTGAAAGCC
59
GTGCTGTCTCAGCTTTCAC
59
GCCTATCCCTGTAAAGCCT
59
GGCACTTCAGGAACTTTAGC
59
AGAGCCCAAGAAGATCATCC
59
ATCTCAGGTTCTTTAGGAGGC
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

TTN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

TTN基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004672
A0A0A0MRA3 (UniProtKB)
IEA
GO:0005524
A0A0A0MRA3 (UniProtKB)
IEA
GO:0006468
A0A0A0MRA3 (UniProtKB)
IEA
GO:0004672
A0A0A0MTS7 (UniProtKB)
IEA
GO:0005524
A0A0A0MTS7 (UniProtKB)
IEA
GO:0006468
A0A0A0MTS7 (UniProtKB)
IEA
GO:0000794
Q8WZ42 (UniProtKB)
IDA
GO:0002020
Q8WZ42 (UniProtKB)
IPI
GO:0002576
Q8WZ42 (UniProtKB)
TAS
GO:0003300
Q8WZ42 (UniProtKB)
IMP
GO:0004674
Q8WZ42 (UniProtKB)
IDA
GO:0004713
Q8WZ42 (UniProtKB)
IDA
GO:0005509
Q8WZ42 (UniProtKB)
IDA
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005515
Q8WZ42 (UniProtKB)
IPI
GO:0005516
Q8WZ42 (UniProtKB)
TAS
GO:0005516
Q8WZ42 (UniProtKB)
IPI
GO:0005524
Q8WZ42 (UniProtKB)
IEA
GO:0005576
Q8WZ42 (UniProtKB)
TAS
GO:0005829
Q8WZ42 (UniProtKB)
TAS
GO:0005829
Q8WZ42 (UniProtKB)
TAS
GO:0005829
Q8WZ42 (UniProtKB)
TAS
GO:0005829
Q8WZ42 (UniProtKB)
TAS
GO:0005829
Q8WZ42 (UniProtKB)
TAS
GO:0005859
Q8WZ42 (UniProtKB)
IBA
GO:0005865
Q8WZ42 (UniProtKB)
IDA
GO:0006936
Q8WZ42 (UniProtKB)
NAS
GO:0006936
Q8WZ42 (UniProtKB)
TAS
GO:0006941
Q8WZ42 (UniProtKB)
TAS
GO:0007076
Q8WZ42 (UniProtKB)
IEP
GO:0008307
Q8WZ42 (UniProtKB)
IMP
GO:0008307
Q8WZ42 (UniProtKB)
TAS
GO:0008307
Q8WZ42 (UniProtKB)
IMP
GO:0018108
Q8WZ42 (UniProtKB)
IEA
GO:0019899
Q8WZ42 (UniProtKB)
IPI
GO:0019901
Q8WZ42 (UniProtKB)
IPI
GO:0030018
Q8WZ42 (UniProtKB)
IDA
GO:0030018
Q8WZ42 (UniProtKB)
IDA
GO:0030018
Q8WZ42 (UniProtKB)
IDA
GO:0030018
Q8WZ42 (UniProtKB)
IDA
GO:0030049
Q8WZ42 (UniProtKB)
TAS
GO:0030240
Q8WZ42 (UniProtKB)
IMP
GO:0030241
Q8WZ42 (UniProtKB)
IMP
GO:0031430
Q8WZ42 (UniProtKB)
IDA
GO:0031433
Q8WZ42 (UniProtKB)
ISS
GO:0031433
Q8WZ42 (UniProtKB)
IPI
GO:0031433
Q8WZ42 (UniProtKB)
IPI
GO:0031674
Q8WZ42 (UniProtKB)
IDA
GO:0035995
Q8WZ42 (UniProtKB)
TAS
GO:0035995
Q8WZ42 (UniProtKB)
IDA
GO:0042802
Q8WZ42 (UniProtKB)
IPI
GO:0042802
Q8WZ42 (UniProtKB)
IPI
GO:0042805
Q8WZ42 (UniProtKB)
IPI
GO:0042805
Q8WZ42 (UniProtKB)
IDA
GO:0043621
Q8WZ42 (UniProtKB)
IDA
GO:0045214
Q8WZ42 (UniProtKB)
IMP
GO:0045214
Q8WZ42 (UniProtKB)
IMP
GO:0045859
Q8WZ42 (UniProtKB)
IMP
GO:0048739
Q8WZ42 (UniProtKB)
IMP
GO:0048769
Q8WZ42 (UniProtKB)
IMP
GO:0050790
Q8WZ42 (UniProtKB)
IMP
GO:0051015
Q8WZ42 (UniProtKB)
IDA
GO:0051371
Q8WZ42 (UniProtKB)
IPI
GO:0051592
Q8WZ42 (UniProtKB)
IDA
GO:0055003
Q8WZ42 (UniProtKB)
IMP
GO:0055003
Q8WZ42 (UniProtKB)
IMP
GO:0055008
Q8WZ42 (UniProtKB)
IMP
GO:0060048
Q8WZ42 (UniProtKB)
IMP
GO:0070062
Q8WZ42 (UniProtKB)
IDA
GO:0097493
Q8WZ42 (UniProtKB)
TAS

基因相关microRNA

基因相关microRNA

可能调控 TTN基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

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
Hereditary Myopathy with Early Respiratory Failure 0.482714419 11 1 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 0.442442977 10 3 BeFree_CLINVAR_MGD_ORPHANET_UNIPROT
Cardiomyopathy, Dilated, 1g 0.44 3 21 CLINVAR_CTD_human_MGD_UNIPROT
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 0.36 2 2 CLINVAR_CTD_human_UNIPROT
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 0.32 0 0 CTD_human_MGD_ORPHANET
Cardiomyopathy, Dilated 0.258411897 31 2 BeFree_CLINVAR_CTD_human_GAD_LHGDN
Myopathy, Early-Onset, with Fatal Cardiomyopathy 0.240271442 1 0 BeFree_CTD_human_ORPHANET
Myopathy, Centronuclear, Autosomal Recessive 0.24 0 1 CLINVAR_ORPHANET
Distal Muscular Dystrophies 0.12680591 6 0 BeFree_CTD_human_LHGDN
Myopathy 0.125438769 10 0 BeFree_CTD_human_LHGDN

基因相关服务

基因相关服务

联系方式

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