MYL2

Protein identityUniProt · HPA

UniProt accession

P10916

Gene

MYL2

Ensembl

ENSG00000111245

Chromosome

12

Canonical length

166 aa

Protein class

Candidate cardiovascular disease genes, Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Microtubules

OverviewNCBI Gene

This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022]

Canonical amino-acid sequenceUniProt

166 residues, UniProt reviewed canonical sequence.

>P10916|MYL2
     1  MAPKKAKKRA GGANSNVFSM FEQTQIQEFK EAFTIMDQNR DGFIDKNDLR DTFAALGRVN
    61  VKNEEIDEMI KEAPGPINFT VFLTMFGEKL KGADPEETIL NAFKVFDPEG KGVLKADYVR
   121  EMLTTQAERF SKEEVDQMFA AFPPDVTGNL DYKNLVHIIT HGEEKD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

27,635 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYL2.

Disease | AllUniProt

Conditions MYL2 is implicated in, by any mechanism.

• Cardiomyopathy, familial hypertrophic, 10 (CMH10) MIM:608758
• Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MFM12) MIM:619424

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 650 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypertrophic cardiomyopathy 10
• Hypertrophic cardiomyopathy
• Cardiomyopathy
• Cardiovascular phenotype
• Primary familial hypertrophic cardiomyopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.75

gnomAD pLI

0

gnomAD missense Z

0.4

DepMap mean gene effect

-0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle contraction
• cardiac myofibril assembly
• heart contraction
• heart development
• negative regulation of cell growth
• positive regulation of the force of heart contraction
• post-embryonic development
• regulation of striated muscle contraction
• regulation of the force of heart contraction
• ventricular cardiac muscle tissue morphogenesis
• muscle cell fate specification

Molecular functions

• actin monomer binding
• calcium ion binding
• myosin heavy chain binding
• structural constituent of muscle

Cellular components

• A band
• cardiac myofibril
• cytoplasm
• cytoskeleton
• cytosol
• myofibril
• myosin complex
• sarcomere

Protein domainsUniProt · Pfam · InterPro

• EF-hand domain
• EF-hand domain pair
• EF-Hand 1, calcium-binding site
• Myosin regulatory light chain
• EF-hand domain pair

KeywordsUniProt

• Calcium
• Cardiomyopathy
• Cytoplasm
• Metal-binding
• Methylation
• Motor protein
• Muscle protein
• Myofibrillar myopathy
• Myosin
• Phosphoprotein
• Repeat

InteractionsUniProt · HPA

Protein binding partners of MYL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MYOC