Myh3 MGI Mouse Gene Detail - MGI:1339709 - myosin, heavy polypeptide 3, skeletal muscle, embryonic

Symbol

Myh3
Name

myosin, heavy polypeptide 3, skeletal muscle, embryonic
Synonyms

MyHC-emb, Myhs-e, Myhse

Feature Type

protein coding gene
IDs

MGI:1339709
NCBI Gene: 17883
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr11:66969126-66993112 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 40.59 cM
Mapping Data

2 experiments

SNPs within 2kb

921 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1339709	protein coding gene	Chr11:66969101-66993117 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018485	protein coding gene	Chr11:67357583-67382980 (+)
A/J	MGP_AJ_G0018454	protein coding gene	Chr11:64832357-64859008 (+)
AKR/J	MGP_AKRJ_G0018423	protein coding gene	Chr11:66775662-66799842 (+)
BALB/cJ	MGP_BALBcJ_G0018425	protein coding gene	Chr11:65118550-65143049 (+)
C3H/HeJ	MGP_C3HHeJ_G0018238	protein coding gene	Chr11:66784312-66811475 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018877	protein coding gene	Chr11:69390955-69417472 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016521	protein coding gene	Chr11:61796237-61820470 (+)
CAST/EiJ	MGP_CASTEiJ_G0017794	protein coding gene	Chr11:67009685-67033682 (+)
CBA/J	MGP_CBAJ_G0018212	protein coding gene	Chr11:72437023-72468758 (+)
DBA/2J	MGP_DBA2J_G0018321	protein coding gene	Chr11:64379738-64404095 (+)
FVB/NJ	MGP_FVBNJ_G0018311	protein coding gene	Chr11:64041327-64067837 (+)
LP/J	MGP_LPJ_G0018393	protein coding gene	Chr11:67910171-67937360 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018335	protein coding gene	Chr11:73266262-73292687 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018918	protein coding gene	Chr11:67007636-67031556 (+)
PWK/PhJ	MGP_PWKPhJ_G0017568	protein coding gene	Chr11:65038685-65063473 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017358	protein coding gene	Chr11:66832971-66857882 (+)
WSB/EiJ	MGP_WSBEiJ_G0017847	protein coding gene	Chr11:66624660-66650773 (+)

Human Ortholog

MYH3, myosin heavy chain 3

Vertebrate Orthologs

9

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MYH3, myosin heavy chain 3
Synonyms

CPSFS1A, CPSFS1B, CPSKF1A, CPSKF1B, DA2A, DA2B, DA2B3, DA8, HEMHC, MYHC-EMB, MYHSE1, SMHCE
Links

HGNC:7573

NCBI Gene ID: 4621

neXtProt AC: NX_P11055

UniProt: P11055
Chr Location

17p13.1; chr17:10628526-10678417 (-) GRCh38

MGI Vertebrate Homology

Myh3 stringent orthology
1 human;1 mouse;1 rat;7 zebrafish
HCOP

vertebrate homology predictions: MYH3
Gene Tree

Myh3

Diseases

5 with human MYH3 associations

				Human Disease	Mouse Models
				contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A IDs contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A DOID:0081321 OMIM:178110 ORDO:65743
				contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B IDs contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B DOID:0081322 OMIM:618469 ORDO:2990
				distal arthrogryposis type 2A IDs distal arthrogryposis type 2A DOID:0111605 OMIM:193700
				distal arthrogryposis type 2B IDs distal arthrogryposis type 2B DOID:0111599 MESH:C538400 ORDO:1147
				distal arthrogryposis type 2B3 IDs distal arthrogryposis type 2B3 DOID:0111602 OMIM:618436

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

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Phenotype Summary

9 phenotypes from 2 alleles in 2 genetic backgrounds
12 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

8
Chemically induced (other)

1
Endonuclease-mediated

1
Targeted

6
Genomic Mutations

1 involving Myh3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

74 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous knockout is partially embryonic lethal and affects myofiber size, number and type. Conditional KO at embryonic or fetal stages affects differentiation and development of myogenic precursor cells and myoblasts.

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All GO Annotations

22
GO References

7

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

976
Tissues

68
cDNA Data

29
Literature Summary

67

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase myh3

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All Sequences

35
RefSeq

4
UniProt

2
CCDS

CCDS36184.1

Ensembl

ENSMUSG00000020908 (Evidence)
NCBI Gene

17883

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020908	Ensembl Gene Model \| MGI Sequence Detail	23987	C57BL/6J	± kb
transcript	ENSMUST00000108689	Ensembl \| MGI Sequence Detail	6031	Not Applicable
polypeptide	ENSMUSP00000104329	Ensembl \| MGI Sequence Detail	1940	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000010827 myosin-3

(term hierarchy)
InterPro Domains

IPR036000 Class II myosin, Myh3, motor domain

IPR014751 DNA repair protein XRCC4-like, C-terminal

IPR000048 IQ motif, EF-hand binding site

IPR036961 Kinesin motor domain superfamily

IPR001609 Myosin head, motor domain

IPR004009 Myosin, N-terminal, SH3-like

IPR008989 Myosin S1 fragment, N-terminal

IPR002928 Myosin tail

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

P13541 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 47

Genomic 4

cDNA 30

Primer pair 11

Other 2

Microarray probesets 3

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MGD-MRK-12754, MGD-MRK-12759, MGI:97262

Summaries

All 114

Developmental Gene Expression 67

Gene Ontology 7

Phenotypes 12
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:347774 Kolonay DW, et al., Temporal regulation of the Mediator complex during muscle proliferation, differentiation, regeneration, aging, and disease. Front Cell Dev Biol. 2024;12:1331563

TSS for Myh3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr102154	Chr11:66969119-66969133 (+)	0 bp
Tssr3523	Chr11:66981186-66981196 (+)	12,065 bp
Tssr102155	Chr11:66982899-66982914 (+)	13,781 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24