1. Gene
  2. MYL12B - myosin light chain 12B Gene

MYL12B - myosin light chain 12B Gene

中文名称:肌球蛋白轻链 12B

种属: Homo sapiens

同用名: MLC-B; MRLC2

基因 ID: 103910 | 基因类型: protein coding

关于 MYL12B

Cytogenetic location: 18p11.31 Genomic coordinates (GRCh38): 18:3,262,133-3,278,461 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues and 7 paralogues. Ubiquitous expression in colon (RPKM 243.9), lung (RPKM 208.5) and 25 other tissues.

功能概要

非肌肉肌球蛋白 II (参见 MYH9;MIM 160775) 的活性受调节轻链 (例如 MRLC2) 的磷酸化调节。这种磷酸化导致更高的 MgATPase 活性和肌球蛋白 II 丝的组装 (Iwasaki 等人,2001 [PubMed 11942626]) 。[OMIM 提供,2008 年 3 月]

The activity of nonmuscle Myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of Myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]

MYL12B 基因产物(3)

mRNA Protein Name
NM_001144944.1 NP_001138416.1 myosin regulatory light chain 12B
NM_001144945.1 NP_001138417.1 myosin regulatory light chain 12B
NM_033546.4 NP_291024.1 myosin regulatory light chain 12B
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
19328794 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell cortex IDA
IDA: 通过直接分析推断
23870127 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

MYL12B 蛋白结构

EF-hand_7

EF-hand_7: EF-hand domain pair (35 - 120)

  • 0
  • 100
  • 172 a.a.
蛋白主名 其他名称

myosin regulatory light chain 12B

MLC-2

MYL12B 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
MYL12B O14950 MYH11 Homo sapiens P35749 19328794
种属内
MYL12B O14950 NSMF Homo sapiens Q6X4W1-2 32296183
种属内
MYL12B O14950 ACTB Homo sapiens P60709 19328794
种属内
MYL12B O14950 UBE3B Homo sapiens Q7Z3V4 33961781
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

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

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

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 MYL12B MGD MGI:107494
Canis familiaris MYL12B VGNC VGNC:53622
Rattus norvegicus MYL12B RGD RGD:628855
Others MYL12B NCBI