1. Gene
  2. MYL11 - myosin light chain 11 Gene

MYL11 - myosin light chain 11 Gene

Homo sapiens

Also known as DA1C; MLC2B; MRLC2; MYLPF; HUMMLC2B

Gene ID: 29895 | Gene type: protein coding

About MYL11

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,370,934-30,377,991 (from NCBI)

This gene has 5 transcripts (splice variants), 251 orthologues, 7 paralogues and is associated with 3 phenotypes. Biased expression in prostate (RPKM 32.5) and esophagus (RPKM 15.3).

Summary

Predicted to be a structural constituent of muscle. Predicted to be involved in skeletal muscle tissue development. Located in lysosomal membrane. Implicated in distal arthrogryposis type 1C. [provided by Alliance of Genome Resources, Apr 2022]

MYL11 Products(3)

mRNA Protein Name
NM_001324458.2 NP_001311387.1 myosin regulatory light chain 11
NM_001324459.2 NP_001311388.1 myosin regulatory light chain 11
NM_013292.5 NP_037424.2 myosin regulatory light chain 11

MYL11 Protein Structure

EF-hand_6

EF-hand_6: EF-hand domain (29 - 55)

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

myosin regulatory light chain 11

fast skeletal myosin light chain 2

Related Diseases

Diseases Alias
Arthrogryposis, Distal, Type 1c

DA1C

Distal Arthrogryposis Type 1c

Arthrogryposis, Distal, 1c

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Congenital Contractures

Congenital Contracture

Scoliosis
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
Bos taurus MYL11 VGNC VGNC:31809
Macaca mulatta MYL11 VGNC VGNC:75044
Canis familiaris MYL11 VGNC VGNC:43552
Felis catus MYL11 VGNC VGNC:63683
Mus musculus MYL11 MGD MGI:97273
Rattus norvegicus MYL11 RGD RGD:3141