MYL12A - myosin light chain 12A Gene

Also Known as MLCB; MRCL3; MRLC3; MYL2B; MLC-2B; HEL-S-24

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10627

About MYL12A

This gene has 12 transcripts (splice variants), 240 orthologues and 7 paralogues. Broad expression in heart (RPKM 774.2), lung (RPKM 179.0) and 22 other tissues.

Summary

This gene encodes a nonsarcomeric Myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven Apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]

MYL12A Products (4)

mRNA Protein Name
NM_001303047.2 NP_001289976.1 myosin regulatory light chain 12A isoform 1
NM_001303048.1 NP_001289977.1 myosin regulatory light chain 12A isoform 1
NM_001303049.2 NP_001289978.1 myosin regulatory light chain 12A isoform 2
NM_006471.4 NP_006462.1 myosin regulatory light chain 12A isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21457715 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYL12A Protein Structure

EF-hand_1

EF-hand_1: EF hand (32 - 60)

EF-hand_8

EF-hand_8: EF-hand domain pair (114 - 163)

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

myosin regulatory light chain 12A

  • epididymis secretory protein Li 24

MYL12A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Cross
MYL12A P19105 Rock2 Rattus norvegicus Q62868
Protein Kinase Assay
21457715
Cross: Cross-species interaction Intra: Intraspecies interaction

MYL12A Antibodies

Cat. No. Product Name Application Reactivity
HY-P86082 Phospho-MYL9(Thr18/Ser19) Antibody (YA5774) WB, IHC-P, ICC/IF, ELISA Human, Mouse, Rat

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
Myopathy, Centronuclear, 2

  • Myopathy, Centronuclear, Autosomal Recessive

  • Autosomal Recessive Centronuclear Myopathy

  • CNM2

  • Centronuclear Myopathy 2

  • Ar-Cnm

  • Myotubular Myopathy, Autosomal Recessive

  • Autosomal Recessive Myotubular Myopathy

  • Centronuclear Myopathy Autosomal Recessive

  • Myopathy, Centronuclear, Type 2
Restrictive Cardiomyopathy

  • Familial Restrictive Cardiomyopathy

  • Cardiomyopathy, Restrictive

  • Cardiomyopathy, Constrictive

  • Primary Restrictive Cardiomyopathy

  • Rcm

  • Cardiomyopathy Restrictive
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08912 MYL12A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus MYL12A MGD MGI:1914518
Rattus norvegicus MYL12A RGD RGD:1309537
Others MYL12A NCBI