2. Gene
  3. TNNC2 - troponin C2, fast skeletal type Gene

TNNC2 - troponin C2, fast skeletal type Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肌钙蛋白 C2，快速骨骼型

种属: Homo sapiens

同用名: FAP85; CFAP85

基因 ID: 7125 | 基因类型: protein coding

关于 TNNC2

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,823,214-45,833,306 (from NCBI)

This gene has 2 transcripts (splice variants), 248 orthologues and 1 paralogue. Biased expression in prostate (RPKM 45.9) and esophagus (RPKM 37.4).

功能概要

肌钙蛋白 (Tn) 是调节横纹肌收缩的关键蛋白复合物，由 3 个亚基组成。 Tn-I 亚基抑制肌动球蛋白 ATP 酶，Tn-T 亚基结合原肌球蛋白和 Tn-C，而 Tn-C 亚基结合钙并克服肌钙蛋白复合物对肌动蛋白丝的抑制作用。该基因编码的蛋白质是 Tn-C 亚基。[RefSeq 提供，2008 年 7 月]

Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]

TNNC2 基因产物(1)

mRNA Protein Name
NM_003279.3 NP_003270.1 troponin C, skeletal muscle
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
contributes to actin binding IDA
IDA: 通过直接分析推断
17194691 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of muscle contraction IMP
IMP: 通过突变表型推断
33755597 GOA
involved in skeletal muscle contraction IDA
IDA: 通过直接分析推断
17194691 GOA
involved in skeletal muscle contraction IMP
IMP: 通过突变表型推断
33755597 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of troponin complex IDA
IDA: 通过直接分析推断
17194691 GOA
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

TNNC2 蛋白结构

EF-hand_8

EF-hand_8: EF-hand domain pair (32 - 83)

EF-hand_7

EF-hand_7: EF-hand domain pair (96 - 156)

  • 0
  • 100
  • 160 a.a.
蛋白主名 其他名称

troponin C, skeletal muscle

troponin C type 2 (fast)

TNNC2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TNNC2 P02585 TNNI3 Homo sapiens Q6FGX2
Y2H Prey Pooling
25416956
种属内
TNNC2 P02585 TBC1D1 Homo sapiens Q86TI0
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Arthrogryposis, Distal, Type 5

Oculomelic Amyoplasia

Distal Arthrogryposis Type 5

Distal Arthrogryposis Type Iib

DA5

Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities

Daiib

Distal Arthrogryposis Type 2b

Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome

Distal Arthrogryposis With Ophthalmoplegia

Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome

Arthrogryposis, Distal, Type Iib

Da2b

Freeman-Sheldon Syndrome Variant

Sheldon-Hall Syndrome

Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities

Arthrogryposis Ophthalmoplegia Retinopathy

Arthrogryposis, Distal, 5

Arthrogryposis, Distal, Type 2b
Nemaline Myopathy 5

Amish Nemaline Myopathy

NEM5

Anm

Nemaline Myopathy, Amish Type

Nemaline Myopathy 5, Amish Type

Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene

Nemaline Myopathy, Type 5

Nemaline Myopathy Amish Type

Tnnt1-Related Nemaline Myopathy

Myopathy, Nemaline, Type 5
Waardenburg Syndrome, Type 3

Waardenburg Syndrome Type 3

Klein-Waardenburg Syndrome

WS3

Waardenburg Syndrome With Upper Limb Anomalies

Waardenburg Syndrome Type Iii

Waardenburg Syndrome, Type Iii

White Forelock Syndrome With Multiple Congenital Malformations

Waardenburg Syndrome With Limb Anomalies

Waardenburg Syndrome 3

White Forelock With Malformations

Klein'S Syndrome
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14849 TNNC2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TNNC2 RGD RGD:1311973
Felis catus TNNC2 VGNC VGNC:66426
Bos taurus TNNC2 VGNC VGNC:36190
Macaca mulatta TNNC2 VGNC VGNC:78603
Mus musculus TNNC2 MGD MGI:98780
Canis familiaris TNNC2 VGNC VGNC:47687
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