MYLK2

Protein identityUniProt · HPA

UniProt accession

Q9H1R3

Gene

MYLK2

Ensembl

ENSG00000101306

Chromosome

20

Canonical length

596 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Endoplasmic reticulum

OverviewNCBI Gene

This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

596 residues, UniProt reviewed canonical sequence.

>Q9H1R3|MYLK2
     1  MATENGAVEL GIQNPSTDKA PKGPTGERPL AAGKDPGPPD PKKAPDPPTL KKDAKAPASE
    61  KGDGTLAQPS TSSQGPKGEG DRGGGPAEGS AGPPAALPQQ TATPETSVKK PKAEQGASGS
   121  QDPGKPRVGK KAAEGQAAAR RGSPAFLHSP SCPAIISSSE KLLAKKPPSE ASELTFEGVP
   181  MTHSPTDPRP AKAEEGKNIL AESQKEVGEK TPGQAGQAKM QGDTSRGIEF QAVPSEKSEV
   241  GQALCLTARE EDCFQILDDC PPPPAPFPHR MVELRTGNVS SEFSMNSKEA LGGGKFGAVC
   301  TCMEKATGLK LAAKVIKKQT PKDKEMVLLE IEVMNQLNHR NLIQLYAAIE TPHEIVLFME
   361  YIEGGELFER IVDEDYHLTE VDTMVFVRQI CDGILFMHKM RVLHLDLKPE NILCVNTTGH
   421  LVKIIDFGLA RRYNPNEKLK VNFGTPEFLS PEVVNYDQIS DKTDMWSMGV ITYMLLSGLS
   481  PFLGDDDTET LNNVLSGNWY FDEETFEAVS DEAKDFVSNL IVKDQRARMN AAQCLAHPWL
   541  NNLAEKAKRC NRRLKSQILL KKYLMKRRWK KNFIAVSAAN RFKKISSSGA LMALGV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYLK2 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)

0.46

Highest tissue expression

686 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYLK2.

Disease | AllUniProt

Conditions MYLK2 is implicated in, by any mechanism.

• Cardiomyopathy, familial hypertrophic (CMH) MIM:192600

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)

0.48

gnomAD pLI

0.23

gnomAD missense Z

0.23

DepMap mean gene effect

-0.2

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle contraction
• cardiac muscle tissue morphogenesis
• neuromuscular synaptic transmission
• peptidyl-threonine phosphorylation
• positive regulation of gene expression
• protein autophosphorylation
• regulation of muscle filament sliding
• signal transduction
• skeletal muscle cell differentiation
• skeletal muscle satellite cell differentiation
• striated muscle contraction

Molecular functions

• ATP binding
• calcium/calmodulin-dependent protein kinase activity
• calmodulin binding
• myosin light chain binding
• myosin light chain kinase activity

Cellular components

• cytoplasm
• nucleus
• sarcomere
• synapse

Protein domainsUniProt · Pfam · InterPro

• Protein kinase domain
• Serine/threonine-protein kinase, active site
• Protein kinase-like domain superfamily
• Protein kinase, ATP binding site
• Protein kinase domain
• Myosin light chain kinase 2, catalytic domain

KeywordsUniProt

• Acetylation
• ATP-binding
• Calmodulin-binding
• Cardiomyopathy
• Cytoplasm
• Kinase
• Nucleotide-binding
• Phosphoprotein
• Serine/threonine-protein kinase
• Transferase

InteractionsUniProt · HPA

Protein binding partners of MYLK2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RPS6KA4