1. Gene
  2. LMOD2 - leiomodin 2 Gene

LMOD2 - leiomodin 2 Gene

中文名称:平滑肌素 2

种属: Homo sapiens

同用名: CLMOD; CMD2G; C-LMOD

基因 ID: 442721 | 基因类型: protein coding

关于 LMOD2

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:123,655,866-123,664,290 (from NCBI)

This gene has 2 transcripts (splice variants), 240 orthologues and 6 paralogues. Restricted expression toward heart (RPKM 307.4).

功能概要

启用肌动蛋白单体结合活性和原肌球蛋白结合活性。参与肌动蛋白成核;肌动蛋白丝聚合的正调控;和肌节组织。位于肌动蛋白丝和肌节。与 M 带共定位。 [由基因组资源联盟提供,2022 年 4 月]

Enables actin monomer binding activity and tropomyosin binding activity. Involved in actin nucleation; positive regulation of actin filament polymerization; and sarcomere organization. Located in actin filament and sarcomere. Colocalizes with M band. [provided by Alliance of Genome Resources, Apr 2022]

LMOD2 基因产物(1)

mRNA Protein Name
NM_207163.3 NP_997046.1 leiomodin-2
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 actin binding IDA
IDA: 通过直接分析推断
18403713 GOA
enables actin monomer binding IMP
IMP: 通过突变表型推断
25250574 GOA
enables tropomyosin binding IMP
IMP: 通过突变表型推断
25250574 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin nucleation IDA
IDA: 通过直接分析推断
20685966 GOA
involved in actin nucleation IMP
IMP: 通过突变表型推断
25250574 GOA
involved in positive regulation of actin filament polymerization IDA
IDA: 通过直接分析推断
26370058 GOA
involved in sarcomere organization IMP
IMP: 通过突变表型推断
18403713 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with M band IDA
IDA: 通过直接分析推断
18403713 GOA
located in actin filament IDA
IDA: 通过直接分析推断
26370058 GOA
located in myofibril IDA
IDA: 通过直接分析推断
20685966 GOA
located in sarcomere IDA
IDA: 通过直接分析推断
18403713 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

LMOD2 蛋白结构

Tropomodulin

Tropomodulin: Tropomodulin (6 - 85)

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

leiomodin-2

cardiac leiomodin

关联疾病

疾病名称 别名
Cardiomyopathy, Dilated, 2g

CMD2G

Dilated Cardiomyopathy 2g

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

Autoimmune Epilepsy
Congenital Structural Myopathy
Hemoglobin H Disease

HBH

Hemoglobin H Disease, Nondeletional

Hemoglobin H Disease, Deletional

Alpha-Thalassemia Intermedia

Haemoglobin H Disease

Alpha-Thalassemia, Hemoglobin H Type

Hemoglobin H Disease, Deletional And Nondeletional

Alpha Thalassemia, Haemoglobin H Type

Alpha Thalassemia, Hemoglobin H Type

Haemoglobin H Disease, Deletional

Hbh Disease

Alpha-Thalassemia Hemoglobin H Type

Hemoglobin H Disease Deletional

Hemoglobin H Disease Non-Deletional

Alpha-Thalassemia

Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia

Alpha Thalassaemia Intermedia

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated 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
Macaca mulatta LMOD2 VGNC VGNC:81634
Felis catus LMOD2 VGNC VGNC:80611
Canis familiaris LMOD2 VGNC VGNC:54785
Mus musculus LMOD2 MGD MGI:2135672
Bos taurus LMOD2 VGNC VGNC:30939
Rattus norvegicus LMOD2 RGD RGD:1592092