1. Gene
  2. Ttn - titin Gene

Ttn - titin Gene

种属: Mus musculus

同用名: L56; mdm; shru; 1100001C23Rik; 2310036G12Rik; 2310057K23Rik; 2310074I15Rik; D330041I19Rik; D830007G01Rik

基因 ID: 22138 | 基因类型: protein coding

关于 Ttn

功能概要

Enables ankyrin binding activity. Involved in regulation of relaxation of cardiac muscle. Acts upstream of or within several processes, including chordate embryonic development; forward locomotion; and heart development. Located in M band and Z disc. Is expressed in several structures, including diaphragm; embryo mesenchyme; heart; musculature; and tarsus. Used to study autosomal recessive limb-girdle muscular dystrophy type 2J; dilated cardiomyopathy 1G; and tibial muscular dystrophy. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human TTN (titin). [provided by Alliance of Genome Resources, Apr 2022]

Ttn 基因产物(3)

mRNA Protein Name
NM_001385708.1 NP_001372637.1 titin isoform 3
NM_011652.3 NP_035782.3 titin isoform N2-A
NM_028004.2 NP_082280.2 titin isoform N2-B
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ankyrin binding IPI
IPI: 通过物理相互作用推断
18310072 MGI
enables protein binding IPI
IPI: 通过物理相互作用推断
14741210 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within adult heart development IMP
IMP: 通过突变表型推断
16702235 MGI
acts upstream of or within cardiac muscle tissue morphogenesis IMP
IMP: 通过突变表型推断
17360664 MGI
acts upstream of or within cardiac myofibril assembly IMP
IMP: 通过突变表型推断
16702235 MGI
acts upstream of or within forward locomotion IMP
IMP: 通过突变表型推断
16115818 MGI
involved in heart development IEP
IEP: 通过表达模式推断
9817758 MGI
acts upstream of or within heart growth IMP
IMP: 通过突变表型推断
17360664 MGI
acts upstream of or within heart morphogenesis IMP
IMP: 通过突变表型推断
16702235 MGI
acts upstream of or within in utero embryonic development IMP
IMP: 通过突变表型推断
16702235 MGI
acts upstream of or within muscle contraction IMP
IMP: 通过突变表型推断
16115818 MGI
involved in regulation of relaxation of cardiac muscle IMP
IMP: 通过突变表型推断
23283722 MGI
acts upstream of or within sarcomere organization IMP
IMP: 通过突变表型推断
16702235 MGI
involved in somitogenesis IEP
IEP: 通过表达模式推断
9817758 MGI
acts upstream of or within striated muscle cell development IMP
IMP: 通过突变表型推断
16115818 MGI
acts upstream of or within ventricular system development IMP
IMP: 通过突变表型推断
17360664 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in A band IDA
IDA: 通过直接分析推断
16481394 MGI
located in I band IDA
IDA: 通过直接分析推断
16481394 MGI
located in M band IDA
IDA: 通过直接分析推断
15138196 MGI
located in Z disc IDA
IDA: 通过直接分析推断
15138196 MGI
located in sarcomere IDA
IDA: 通过直接分析推断
12651156 MGI
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

titin

connectin

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Ttn NCBI NCBI:7273
Rattus norvegicus Ttn NCBI NCBI:84015