Mylk2 MGI Mouse Gene Detail - MGI:2139434 - myosin, light polypeptide kinase 2, skeletal muscle

Symbol

Mylk2
Name

myosin, light polypeptide kinase 2, skeletal muscle
Synonyms

9830004H17Rik

Feature Type

protein coding gene
IDs

MGI:2139434
NCBI Gene: 228785
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr2:152753272-152764988 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 75.41 cM
Mapping Data

2 experiments

SNPs within 2kb

367 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2139434	protein coding gene	Chr2:152753265-152764988 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026680	protein coding gene	Chr2:157500502-157525119 (+)
A/J	MGP_AJ_G0026646	protein coding gene	Chr2:151210674-151222088 (+)
AKR/J	MGP_AKRJ_G0026616	protein coding gene	Chr2:155630756-155644117 (+)
BALB/cJ	MGP_BALBcJ_G0026655	protein coding gene	Chr2:151520150-151531706 (+)
C3H/HeJ	MGP_C3HHeJ_G0026398	protein coding gene	Chr2:156001453-156012970 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027104	protein coding gene	Chr2:162073654-162099101 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024475	protein coding gene	Chr2:144800380-144812732 (+)
CAST/EiJ	MGP_CASTEiJ_G0025859	protein coding gene	Chr2:156246177-156270706 (+)
CBA/J	MGP_CBAJ_G0026376	protein coding gene	Chr2:168046270-168060101 (+)
DBA/2J	MGP_DBA2J_G0026512	protein coding gene	Chr2:150420703-150432180 (+)
FVB/NJ	MGP_FVBNJ_G0026478	protein coding gene	Chr2:148885131-148899371 (+)
LP/J	MGP_LPJ_G0026616	protein coding gene	Chr2:157647178-157670898 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026499	protein coding gene	Chr2:172108679-172123520 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027160	protein coding gene	Chr2:155512053-155537163 (+)
PWK/PhJ	MGP_PWKPhJ_G0025593	protein coding gene	Chr2:149933550-149958311 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025396	protein coding gene	Chr2:154345125-154368753 (+)
WSB/EiJ	MGP_WSBEiJ_G0025929	protein coding gene	Chr2:156416623-156441290 (+)

Human Ortholog

MYLK2, myosin light chain kinase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MYLK2, myosin light chain kinase 2
Synonyms

KMLC, MLCK, MLCK2, skMLCK
Links

HGNC:16243

NCBI Gene ID: 85366

neXtProt AC: NX_Q9H1R3

UniProt: Q9H1R3
Chr Location

20q11.21; chr20:31819308-31834689 (+) GRCh38

MGI Vertebrate Homology

Mylk2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MYLK2
Gene Tree

Mylk2

Diseases

1 with human MYLK2 associations

				Human Disease	Mouse Models
				hypertrophic cardiomyopathy 1 IDs hypertrophic cardiomyopathy 1 DOID:0110307 OMIM:192600

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Mylk2
Incidental Mutations

Mutagenetix
Find Mice (IMSR)

34 strains or lines available

Homozygous knockout mice display impaired skeletal muscle twitch tension response to tetanic stimulation.

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All GO Annotations

46
GO References

12

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

6

Tissue x Stage Matrix

Other Mouse Links

GEO

Expression Atlas

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All Sequences

31
RefSeq

3
UniProt

2
CCDS

CCDS38282.2

Ensembl

ENSMUSG00000027470 (Evidence)
NCBI Gene

228785

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027470	Ensembl Gene Model \| MGI Sequence Detail	11717	C57BL/6J	± kb
transcript	ENSMUST00000028970	Ensembl \| MGI Sequence Detail	2951	Not Applicable
polypeptide	ENSMUSP00000028970	Ensembl \| MGI Sequence Detail	613	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000010846 myosin light chain kinase 2, skeletal/cardiac muscle

(term hierarchy)
EC

2.7.11.18
InterPro Domains

IPR042717 Myosin light chain kinase 2, catalytic domain

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR008271 Serine/threonine-protein kinase, active site

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All nucleic 6

cDNA 6

Microarray probesets 2

Summaries

All 35

Gene Ontology 12

Phenotypes 7
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:173154 Al Madhoun AS, et al., Skeletal myosin light chain kinase regulates skeletal myogenesis by phosphorylation of MEF2C. EMBO J. 2011;30(12):2477-89

TSS for Mylk2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr20848	Chr2:152753231-152753286 (+)	-13 bp
Tssr20849	Chr2:152753296-152753297 (+)	25 bp
Tssr20850	Chr2:152753305-152753316 (+)	39 bp
Tssr696	Chr2:152753566-152753601 (+)	312 bp
Tssr20851	Chr2:152753683-152753689 (+)	414 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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