Human Gene MYH2 (ENST00000245503.10_7) from GENCODE V47lift37
  Description: myosin heavy chain 2, transcript variant 1 (from RefSeq NM_017534.6)
Gencode Transcript: ENST00000245503.10_7
Gencode Gene: ENSG00000125414.19_14
Transcript (Including UTRs)
   Position: hg19 chr17:10,424,465-10,452,975 Size: 28,511 Total Exon Count: 40 Strand: -
Coding Region
   Position: hg19 chr17:10,424,597-10,451,237 Size: 26,641 Coding Exon Count: 38 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:10,424,465-10,452,975)mRNA (may differ from genome)Protein (1941 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYH2_HUMAN
DESCRIPTION: RecName: Full=Myosin-2; AltName: Full=Myosin heavy chain 2; AltName: Full=Myosin heavy chain 2a; Short=MyHC-2a; AltName: Full=Myosin heavy chain IIa; Short=MyHC-IIa; AltName: Full=Myosin heavy chain, skeletal muscle, adult 2;
FUNCTION: Muscle contraction. Required for cytoskeleton organization (By similarity).
SUBUNIT: 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). Interacts with GCSAM.
SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
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.
DOMAIN: Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
DISEASE: Defects in MYH2 are the cause of inclusion body myopathy type 3 (IBM3) [MIM:605637]. Hereditary inclusion body myopathies constitute a group of neuromuscular disorders characterized by slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM3 is a variant of hereditary inclusion body myopathies and is characterized by autosomal dominant myopathy with joint contracture, ophthalmoplegia and rimmed vacuoles. Morphological analysis of muscle biopsies from patients indicate that the type 2A fibers frequently were abnormal, whereas other fiber types appeared normal.
SIMILARITY: Contains 1 IQ domain.
SIMILARITY: Contains 1 myosin head-like domain.
CAUTION: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-2 (MYO2).

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MYH2
Diseases sorted by gene-association score: proximal myopathy and ophthalmoplegia* (1550), inclusion body myositis* (303), myopathy (18), congenital muscular dystrophy due to lmna mutation (9), myh-9 related disease (8), bone fracture (7), ocular motility disease (6), distal arthrogryposis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 535.70 RPKM in Muscle - Skeletal
Total median expression: 542.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.7086-0.159 Picture PostScript Text
3' UTR -39.40132-0.298 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000048 - IQ_motif_EF-hand-BS
IPR015650 - Myosin_1/23/4/7/8/13/15
IPR001609 - Myosin_head_motor_dom
IPR004009 - Myosin_N
IPR002928 - Myosin_tail

Pfam Domains:
PF00063 - Myosin head (motor domain)
PF00612 - IQ calmodulin-binding motif
PF01576 - Myosin tail
PF02736 - Myosin N-terminal SH3-like domain

SCOP Domains:
50084 - Myosin S1 fragment, N-terminal domain
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
90257 - Myosin rod fragments
57997 - Tropomyosin

ModBase Predicted Comparative 3D Structure on Q9UKX2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000146 microfilament motor activity
GO:0000166 nucleotide binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0051015 actin filament binding

Biological Process:
GO:0001778 plasma membrane repair
GO:0006936 muscle contraction
GO:0007018 microtubule-based movement
GO:0014823 response to activity
GO:0030049 muscle filament sliding
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0070252 actin-mediated cell contraction

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005826 actomyosin contractile ring
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0005911 cell-cell junction
GO:0016459 myosin complex
GO:0030016 myofibril
GO:0030017 sarcomere
GO:0031672 A band
GO:0032982 myosin filament
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  BC093082 - Homo sapiens myosin, heavy chain 2, skeletal muscle, adult, mRNA (cDNA clone IMAGE:30529284), complete cds.
Z32858 - H.sapiens mRNA for fast 2a myosin heavy chain (3' end).
S73840 - Homo sapiens type IIA myosin heavy chain mRNA, partial cds.
AF111784 - Homo sapiens myosin heavy chain IIa mRNA, complete cds.
BX510904 - Homo sapiens mRNA; cDNA DKFZp451A123 (from clone DKFZp451A123).
JD283662 - Sequence 264686 from Patent EP1572962.
BC126409 - Homo sapiens myosin, heavy chain 2, skeletal muscle, adult, mRNA (cDNA clone MGC:161687 IMAGE:8992125), complete cds.
AK299440 - Homo sapiens cDNA FLJ51537 partial cds, highly similar to Myosin heavy chain, skeletal muscle, adult 2.
AK300702 - Homo sapiens cDNA FLJ51538 complete cds, highly similar to Myosin heavy chain, skeletal muscle, adult 2.
AK308102 - Homo sapiens cDNA, FLJ98050.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart)

Reactome (by CSHL, EBI, and GO)

Protein Q9UKX2 (Reactome details) participates in the following event(s):

R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A0AVL4, ENST00000245503.1, ENST00000245503.2, ENST00000245503.3, ENST00000245503.4, ENST00000245503.5, ENST00000245503.6, ENST00000245503.7, ENST00000245503.8, ENST00000245503.9, MYH2_HUMAN, MYHSA2, NM_017534, Q14322, Q16229, Q567P6, Q86T56, Q9UKX2, uc317equ.1, uc317equ.2
UCSC ID: ENST00000245503.10_7
RefSeq Accession: NM_017534.6
Protein: Q9UKX2 (aka MYH2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.