Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene h... See more...

Aliases for MYH3 Gene

Aliases for MYH3 Gene

  • Myosin Heavy Chain 3 2 3 4 5
  • Myosin, Heavy Polypeptide 3, Skeletal Muscle, Embryonic 2 3
  • Myosin Heavy Chain, Fast Skeletal Muscle, Embryonic 3 4
  • Myosin, Skeletal, Heavy Chain, Embryonic 1 2 3
  • Myosin-3 3 4
  • SMHCE 3 4
  • Myosin, Heavy Chain 3, Skeletal Muscle, Embryonic 3
  • Muscle Embryonic Myosin Heavy Chain 3 2
  • Muscle Embryonic Myosin Heavy Chain 4
  • MYHC-EMB 3
  • CPSKF1A 3
  • CPSKF1B 3
  • MYHSE1 3
  • DA2B3 3
  • HEMHC 3
  • DA2A 3
  • DA2B 3
  • DA8 3

External Ids for MYH3 Gene

Previous GeneCards Identifiers for MYH3 Gene

  • GC17M010897
  • GC17M011646
  • GC17M010474
  • GC17M010732
  • GC17M010472

Summaries for MYH3 Gene

Entrez Gene Summary for MYH3 Gene

  • Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYH3 Gene

MYH3 (Myosin Heavy Chain 3) is a Protein Coding gene. Diseases associated with MYH3 include Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1A and Arthrogryposis, Distal, Type 2A. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Translocation of GLUT4 to the plasma membrane. Gene Ontology (GO) annotations related to this gene include calmodulin binding and motor activity. An important paralog of this gene is MYH2.

UniProtKB/Swiss-Prot Summary for MYH3 Gene

Tocris Summary for MYH3 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.

Gene Wiki entry for MYH3 Gene

Additional gene information for MYH3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYH3 Gene

Genomics for MYH3 Gene

GeneHancer (GH) Regulatory Elements for MYH3 Gene

Promoters and enhancers for MYH3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J010678 Enhancer 0.7 FANTOM5 Ensembl dbSUPER 500.7 +0.6 630 1.2 ZNF548 MYH3 lnc-SCO1-1-002 ADPRM MYH4 SCO1
GH17J010789 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 10.5 -118.2 -118170 15.6 ZNF217 ZIC2 POLR2A CLOCK TAF7 TAF9B GATAD2B CTBP1 NR2F2 GTF2F1 TMEM238L ADPRM SCO1 PIRT RNU6-1065P RPL15P21 MYH3 TMEM220-AS1 ENSG00000263508 ENSG00000266114
GH17J010612 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 11.3 +65.2 65151 2.1 CTCF ZNF300 REST RAD21 EP300 SMC3 ZNF491 ZNF195 NFIC ZNF184 MYH3 RF00017-2283 L13304-016 lnc-MYH3-2 ENSG00000214970 MYHAS
GH17J010695 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 6.5 -19.2 -19209 5.7 ZBTB40 ZNF217 EP300 CTCF NRF1 TCF12 MYC POLR2G PHF8 ZFX ADPRM SCO1 lnc-TMEM220-4 MYH3 lnc-ADPRM-6 TMEM220
GH17J010736 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.6 -59.3 -59328 3.7 CTCF NCOR1 REST RAD21 SKI TEAD1 TBX3 SMC3 FOXA2 NR2F2 TMEM220 RNU6-1065P RPL15P21 SCO1 ADPRM MYH3 TMEM220-AS1 ENSG00000264016 ENSG00000285220 lnc-TMEM220-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYH3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYH3

Top Transcription factor binding sites by QIAGEN in the MYH3 gene promoter:
  • AML1a
  • AP-2rep
  • c-Myb
  • C/EBPbeta
  • Ik-3
  • MyoD
  • Pax-2
  • Pax-2a
  • Pax-3
  • RORalpha2

Genomic Locations for MYH3 Gene

Genomic Locations for MYH3 Gene
chr17:10,628,526-10,679,030
(GRCh38/hg38)
Size:
50,505 bases
Orientation:
Minus strand
chr17:10,531,843-10,560,626
(GRCh37/hg19)
Size:
28,784 bases
Orientation:
Minus strand

Genomic View for MYH3 Gene

Genes around MYH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH3 Gene

Proteins for MYH3 Gene

  • Protein details for MYH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11055-MYH3_HUMAN
    Recommended name:
    Myosin-3
    Protein Accession:
    P11055
    Secondary Accessions:
    • Q15492

    Protein attributes for MYH3 Gene

    Size:
    1940 amino acids
    Molecular mass:
    223905 Da
    Quaternary structure:
    • Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).

neXtProt entry for MYH3 Gene

Post-translational modifications for MYH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYH3 Gene

Domains & Families for MYH3 Gene

Gene Families for MYH3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MYH3 Gene

Blocks:
  • IQ calmodulin-binding region
  • Myosin tail
  • Myosin N-terminal SH3-like domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYH3 Gene

GenScript: Design optimal peptide antigens:
  • SMHCE (MYH3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11055

UniProtKB/Swiss-Prot:

MYH3_HUMAN :
  • The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
  • Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH3: view

Function for MYH3 Gene

Molecular function for MYH3 Gene

UniProtKB/Swiss-Prot Function:
Muscle contraction.
GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 3,200kDa,skeletal muscle,embryonic

Phenotypes From GWAS Catalog for MYH3 Gene

Gene Ontology (GO) - Molecular Function for MYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity NAS 1691980
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with MYH3: view
genes like me logo Genes that share phenotypes with MYH3: view

Human Phenotype Ontology for MYH3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH3

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MYH3 Gene

Localization for MYH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH3 Gene

Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYH3 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex NAS 16642020
GO:0016459 myosin complex IEA --
GO:0030016 myofibril IEA --
genes like me logo Genes that share ontologies with MYH3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYH3 Gene

Pathways & Interactions for MYH3 Gene

PathCards logo

SuperPathways for MYH3 Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
.42
.32
2 PAK Pathway
.56
.56
.36
3 Actin Nucleation by ARP-WASP Complex
.66
.35
4 RhoGDI Pathway
.33
.33
5 Vesicle-mediated transport
genes like me logo Genes that share pathways with MYH3: view

Pathways by source for MYH3 Gene

6 GeneGo (Thomson Reuters) pathways for MYH3 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion Tight junctions
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Development MAG-dependent inhibition of neurite outgrowth
  • Immune response CCR3 signaling in eosinophils
11 Qiagen pathways for MYH3 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for MYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 16642020
GO:0006470 protein dephosphorylation IEA --
GO:0007517 muscle organ development TAS 2771643
GO:0030048 actin filament-based movement NAS 1691980
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with MYH3: view

No data available for SIGNOR curated interactions for MYH3 Gene

Drugs & Compounds for MYH3 Gene

(2) Drugs for MYH3 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(R)-(+)-Blebbistatin Pharma non-muscle myosin II ATPases inhibitor, cell-permeable, Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 0
BTS Pharma Selective inhibitor of skeletal muscle myosin II ATPase activity 0

(2) Additional Compounds for MYH3 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

(4) Tocris Compounds for MYH3 Gene

Compound Action Cas Number
(+-)-Blebbistatin Selective inhibitor of myosin II ATPase activity 674289-55-5
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 1177356-70-5
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) 856925-71-8
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity 1576-37-0
genes like me logo Genes that share compounds with MYH3: view

Transcripts for MYH3 Gene

mRNA/cDNA for MYH3 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH3

Alternative Splicing Database (ASD) splice patterns (SP) for MYH3 Gene

No ASD Table

Relevant External Links for MYH3 Gene

GeneLoc Exon Structure for
MYH3

Expression for MYH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH3 Gene

This gene is overexpressed in Muscle - Skeletal (x10.0).

Protein differential expression in normal tissues from HIPED for MYH3 Gene

This gene is overexpressed in Fetal heart (34.4), Fetal Liver (14.5), Heart (11.1), and Esophagus (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYH3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYH3

SOURCE GeneReport for Unigene cluster for MYH3 Gene:

Hs.440895

mRNA Expression by UniProt/SwissProt for MYH3 Gene:

P11055-MYH3_HUMAN
Tissue specificity: Expressed in fetal bone, thymus, placenta, heart, brain, and liver.

Evidence on tissue expression from TISSUES for MYH3 Gene

  • Muscle(4.6)
  • Lung(4)
  • Pancreas(2.9)
  • Heart(2.7)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
  • testicle
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MYH3: view

No data available for Protein tissue co-expression partners for MYH3 Gene

Orthologs for MYH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYH3 31 30
  • 99.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYHC-EMBRYONIC 31
  • 98 (a)
OneToOne
MYH3 30
  • 90.67 (n)
dog
(Canis familiaris)
Mammalia MYH3 31 30
  • 91.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myh3 30
  • 90.22 (n)
mouse
(Mus musculus)
Mammalia Myh3 17 31 30
  • 89.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 85 (a)
ManyToMany
-- 31
  • 82 (a)
ManyToMany
-- 31
  • 78 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves MYH1C 31
  • 84 (a)
ManyToMany
MYH1B 31
  • 83 (a)
ManyToMany
-- 31
  • 82 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 83 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495065 30
  • 76.74 (n)
Str.12038 30
fruit fly
(Drosophila melanogaster)
Insecta Mhc 32
  • 51 (a)
Prm 32
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea F58G4.1 32
  • 49 (a)
myo-3 32
  • 47 (a)
F45G2.2 32
  • 42 (a)
Y11D7A.14 32
  • 28 (a)
hcp-1 32
  • 21 (a)
C02F12.7 32
  • 21 (a)
hcp-2 32
  • 19 (a)
Species where no ortholog for MYH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MYH3 Gene

ENSEMBL:
Gene Tree for MYH3 (if available)
TreeFam:
Gene Tree for MYH3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYH3: view image

Paralogs for MYH3 Gene

Variants for MYH3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYH3 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
694358 Likely Pathogenic: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 10,647,380(-) G/A MISSENSE_VARIANT
694359 Uncertain Significance: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 10,642,858(-) C/A MISSENSE_VARIANT
694360 Pathogenic: Freeman-Sheldon syndrome 10,642,557(-) T/G MISSENSE_VARIANT
703180 Likely Benign: not provided 10,630,330(-) C/G SYNONYMOUS_VARIANT
703181 Likely Benign: not provided 10,630,342(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MYH3 Gene

Structural Variations from Database of Genomic Variants (DGV) for MYH3 Gene

Variant ID Type Subtype PubMed ID
nsv1058835 CNV loss 25217958
nsv1065819 CNV gain 25217958
nsv960411 CNV duplication 23825009
nsv960412 CNV duplication 23825009

Variation tolerance for MYH3 Gene

Residual Variation Intolerance Score: 1.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYH3 Gene

Human Gene Mutation Database (HGMD)
MYH3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH3 Gene

Disorders for MYH3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for MYH3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

MYH3_HUMAN
  • Arthrogryposis, distal, 2A (DA2A) [MIM:193700]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin. {ECO:0000269 PubMed:16642020, ECO:0000269 PubMed:18695058}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant. {ECO:0000269 PubMed:16642020, ECO:0000269 PubMed:18695058}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Contractures, pterygia, and variable skeletal fusions syndrome 1A (CPSKF1A) [MIM:178110]: An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported. {ECO:0000269 PubMed:25957469, ECO:0000269 PubMed:27381093, ECO:0000269 PubMed:29314551}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Contractures, pterygia, and variable skeletal fusions syndrome 1B (CPSKF1B) [MIM:618469]: An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed. {ECO:0000269 PubMed:29805041}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYH3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYH3: view

No data available for Genatlas for MYH3 Gene

Publications for MYH3 Gene

  1. Nucleotide sequence of full length human embryonic myosin heavy chain cDNA. (PMID: 2726495) Eller M … Sarkar S (Nucleic acids research 1989) 2 3 4 54
  2. A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions. (PMID: 29314551) Scala M … Capra V (American journal of medical genetics. Part A 2018) 3 4 54
  3. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. (PMID: 29805041) Cameron-Christie SR … Robertson SP (American journal of human genetics 2018) 3 4 54
  4. Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. (PMID: 27381093) Carapito R … Bahram S (European journal of human genetics : EJHG 2016) 3 4 54
  5. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. (PMID: 25957469) Chong JX … Bamshad MJ (American journal of human genetics 2015) 3 4 54

Products for MYH3 Gene

Sources for MYH3 Gene