1. Gene
  2. MYLK2 - myosin light chain kinase 2 Gene

MYLK2 - myosin light chain kinase 2 Gene

中文名称:肌球蛋白轻链激酶 2

种属: Homo sapiens

同用名: KMLC; MLCK; MLCK2; skMLCK

基因 ID: 85366 | 基因类型: protein coding

关于 MYLK2

Cytogenetic location: 20q11.21 Genomic coordinates (GRCh38): 20:31,819,356-31,834,684 (from NCBI)

This gene has 3 transcripts (splice variants), 115 orthologues, 22 paralogues and is associated with 2 phenotypes. Biased expression in esophagus (RPKM 3.0), prostate (RPKM 2.0) and 5 other tissues.

功能概要

该基因编码肌球蛋白轻链激酶,一种钙/钙调蛋白依赖性酶,仅在成人骨骼肌中表达。[RefSeq 提供,2008 年 7 月]

This gene encodes a Myosin light chain kinase, a calcium/Calmodulin dependent Enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]

MYLK2 基因产物(1)

mRNA Protein Name
NM_033118.4 NP_149109.1 myosin light chain kinase 2, skeletal/cardiac 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
enables myosin light chain kinase activity IDA
IDA: 通过直接分析推断
16448786 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21556048 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cardiac muscle tissue morphogenesis IMP
IMP: 通过突变表型推断
16448786 GOA
involved in peptidyl-threonine phosphorylation IDA
IDA: 通过直接分析推断
21556048 GOA
involved in positive regulation of gene expression IDA
IDA: 通过直接分析推断
21556048 GOA
involved in protein autophosphorylation IDA
IDA: 通过直接分析推断
21556048 GOA
involved in regulation of muscle filament sliding IDA
IDA: 通过直接分析推断
16448786 GOA
involved in skeletal muscle cell differentiation IDA
IDA: 通过直接分析推断
21556048 GOA
involved in striated muscle contraction IDA
IDA: 通过直接分析推断
16448786 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
21556048 GOA
located in nucleus IDA
IDA: 通过直接分析推断
21556048 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

MYLK2 蛋白结构

Pkinase

Pkinase: Protein kinase domain (288 - 540)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 596 a.a.
蛋白主名 其他名称

myosin light chain kinase 2, skeletal/cardiac muscle

myosin light chain kinase 2, skeletal muscle

MYLK2 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
MYLK2 Q9H1R3 MEF2C Homo sapiens Q06413
Protein Kinase Assay
21556048
种属内
MYLK2 Q9H1R3 HSP90AB1 Homo sapiens P08238
Anti Tag CoIP
31980649
种属内
MYLK2 Q9H1R3 HSP90AB1 Homo sapiens P08238
Lumier
22939624
种属内
MYLK2 Q9H1R3 WFS1 Homo sapiens O76024
Validated Y2H
32814053
种属内
MYLK2 Q9H1R3 WFS1 Homo sapiens O76024
Y2H Array
32814053
种属内
MYLK2 Q9H1R3 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
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
Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

Immunodeficiency Syndrome, Variable

ICF1

Ciid

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Centromeric Instability, Immunodeficiency Syndrome

Icf Syndrome 1

Centromeric Instability Immunodeficiency Syndrome

Icf Syndrome

Variable Immune Deficiency With Centromeric Instability Of Chromosomes 1 9 And 16

Variable Immunodeficiency Syndrome

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 1

Common Variable Immunodeficiency

Chromosomal Instability

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus MYLK2 MGD MGI:2139434
Bos taurus MYLK2 VGNC VGNC:31806
Canis familiaris MYLK2 VGNC VGNC:43550
Macaca mulatta MYLK2 VGNC VGNC:74973
Felis catus MYLK2 VGNC VGNC:63681
Rattus norvegicus MYLK2 RGD RGD:620934