Myl2 MGI Mouse Gene Detail - MGI:97272 - myosin, light polypeptide 2, regulatory, cardiac, slow

Symbol

Myl2
Name

myosin, light polypeptide 2, regulatory, cardiac, slow
Synonyms

Gm32672, MLC-2, Mlc2v, MLC-2v, Mylpc

Feature Type

protein coding gene
IDs

MGI:97272
NCBI Gene: 17906
Alliance

gene page
Transcription Start Sites

17 TSS

Sequence Map

Chr5:122239014-122251535 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, Syntenic
Mapping Data

3 experiments

SNPs within 2kb

487 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97272	protein coding gene	Chr5:122230787-122251536 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030041	protein coding gene	Chr5:125706128-125712008 (+)
A/J	MGP_AJ_G0030006	protein coding gene	Chr5:120515746-120528405 (+)
AKR/J	MGP_AKRJ_G0029942	protein coding gene	Chr5:124383472-124395993 (+)
BALB/cJ	MGP_BALBcJ_G0030017	protein coding gene	Chr5:121860753-121873215 (+)
C3H/HeJ	MGP_C3HHeJ_G0029734	protein coding gene	Chr5:124989459-125003647 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030470	protein coding gene	Chr5:130527791-130542245 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027696	protein coding gene	Chr5:115132942-115139200 (+)
CAST/EiJ	MGP_CASTEiJ_G0029143	protein coding gene	Chr5:124096255-124102732 (+)
CBA/J	MGP_CBAJ_G0029704	protein coding gene	Chr5:135652055-135664580 (+)
DBA/2J	MGP_DBA2J_G0029854	protein coding gene	Chr5:120567402-120579871 (+)
FVB/NJ	MGP_FVBNJ_G0029810	protein coding gene	Chr5:119546977-119560750 (+)
LP/J	MGP_LPJ_G0029943	protein coding gene	Chr5:126247384-126253264 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029841	protein coding gene	Chr5:139434250-139446758 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030511	protein coding gene	Chr5:123957828-123970353 (+)
PWK/PhJ	MGP_PWKPhJ_G0028857	protein coding gene	Chr5:119328736-119334635 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028694	protein coding gene	Chr5:121680529-121687866 (+)
WSB/EiJ	MGP_WSBEiJ_G0029218	protein coding gene	Chr5:124640839-124646714 (+)

Human Ortholog

MYL2, myosin light chain 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MYL2, myosin light chain 2
Synonyms

CMH10, MFM12, MLC-2, MLC2, MLC-2s/v, MLC-2v
Links

HGNC:7583

NCBI Gene ID: 4633

neXtProt AC: NX_P10916

UniProt: P10916
Chr Location

12q24.11; chr12:110909996-111052434 (-) GRCh38

MGI Vertebrate Homology

Myl2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: MYL2
Gene Tree

Myl2

Diseases

2 with human MYL2 associations

				Human Disease	Mouse Models
				familial hypertrophic cardiomyopathy IDs familial hypertrophic cardiomyopathy DOID:0080326 MESH:D024741 NCI:C84773 OMIM:PS192600 ORDO:217569 UMLS_CUI:C0949658
				hypertrophic cardiomyopathy 10 IDs hypertrophic cardiomyopathy 10 DOID:0110316 OMIM:608758

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

Mutations/Alleles

1 with disease annotations

References

5 with disease annotations

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Phenotype Summary

43 phenotypes from 5 alleles in 5 genetic backgrounds
105 phenotypes from multigenic genotypes
9 images
160 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

45
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

28
Radiation induced

1
Targeted

9
Transgenic

3
Genomic Mutations

2 involving Myl2
Incidental Mutations

APF
Find Mice (IMSR)

22 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice heterozygous for a knock-in allele exhibit embryonic growth retardation and die between E12.5 and E14.5 with abnormal heart development characterized by a single ventricle, complete absence of the interventricular groove and septum, and a thin myocardium compact layer.

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All GO Annotations

32
GO References

14

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	non-membrane-bounded 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

1143
Tissues

139
cDNA Data

193
Literature Summary

212

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA MYL2

Xenbase myl2

ZFIN myl2a, myl2b

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All Sequences

68
RefSeq

14
UniProt

8
CCDS

CCDS39252.1

Ensembl

ENSMUSG00000013936 (Evidence)
NCBI Gene

17906

			Length	Strain/Species	Flank
genomic	ENSMUSG00000013936	Ensembl Gene Model \| MGI Sequence Detail	12522	C57BL/6J	± kb
transcript	ENSMUST00000111750	Ensembl \| MGI Sequence Detail	729	Not Applicable
polypeptide	ENSMUSP00000107379	Ensembl \| MGI Sequence Detail	176	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000010834 myosin regulatory light chain 2, ventricular/cardiac muscle isoform

(term hierarchy)
PDB

8Q6T
InterPro Domains

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR050403 Myosin Regulatory Light Chain
GlyGen

P51667 1 site, 1 O-linked glycan (1 site)

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All nucleic 236

cDNA 201

Primer pair 16

Other 19

Microarray probesets 3

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MGD-MRK-12770, MGI:5591831

Summaries

All 409

Developmental Gene Expression 212

Diseases 5

Gene Ontology 14

Phenotypes 160
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:347631 Li C, et al., Cfp1 Controls Cardiomyocyte Maturation by Modifying Histone H3K4me3 of Structural, Metabolic, and Contractile Related Genes. Adv Sci (Weinh). 2024 Mar;11(11):e2305992

TSS for Myl2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr48619	Chr5:122238847-122238870 (+)	-155 bp
Tssr48620	Chr5:122238879-122238914 (+)	-117 bp
Tssr48621	Chr5:122239007-122239021 (+)	0 bp
Tssr48622	Chr5:122239035-122239049 (+)	28 bp
Tssr48623	Chr5:122239209-122239222 (+)	202 bp
Tssr48624	Chr5:122239226-122239240 (+)	219 bp
Tssr48625	Chr5:122239840-122239862 (+)	837 bp
Tssr48626	Chr5:122240713-122240722 (+)	1,704 bp
Tssr48627	Chr5:122240733-122240797 (+)	1,751 bp
Tssr48628	Chr5:122240911-122240944 (+)	1,914 bp
Tssr48629	Chr5:122240959-122240984 (+)	1,958 bp
Tssr48630	Chr5:122241033-122241038 (+)	2,022 bp
Tssr48631	Chr5:122241210-122241230 (+)	2,206 bp
Tssr48632	Chr5:122241231-122241250 (+)	2,227 bp
Tssr48633	Chr5:122243949-122243956 (+)	4,939 bp
Tssr48634	Chr5:122244845-122244872 (+)	5,845 bp
Tssr48635	Chr5:122250243-122250288 (+)	11,252 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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