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

MYL12B - myosin light chain 12B Gene

Homo sapiens

Also known as MLC-B; MRLC2

Gene ID: 103910 | Gene type: protein coding

About 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.

Summary

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 Products(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

MYL12B Protein Structure

EF-hand_7

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

  • 0
  • 100
  • 172 a.a.
Protein Preferred Names Protein Names

myosin regulatory light chain 12B

MLC-2

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Mus musculus MYL12B MGD MGI:107494
Canis familiaris MYL12B VGNC VGNC:53622
Rattus norvegicus MYL12B RGD RGD:628855