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Aliases for MYH7B Gene

Aliases for MYH7B Gene

  • Myosin Heavy Chain 7B 2 3 5
  • Myosin Heavy Chain 7B, Cardiac Muscle Beta Isoform 3 4
  • Myosin, Heavy Polypeptide 7B, Cardiac Muscle, Beta 2 3
  • Antigen MLAA-21 3 4
  • Slow A MYH14 3 4
  • Myosin, Heavy Chain 7B, Cardiac Muscle, Beta 3
  • Myosin Cardiac Muscle Beta Chain 4
  • U937-Associated Antigen 3
  • Myosin-7B 3
  • KIAA1512 4
  • MHC14 3
  • MYH14 3

External Ids for MYH7B Gene

Previous GeneCards Identifiers for MYH7B Gene

  • GC20P033325
  • GC20P034231
  • GC20P034278
  • GC20P033026
  • GC20P033565
  • GC20P030322

Summaries for MYH7B Gene

Entrez Gene Summary for MYH7B Gene

  • The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]

GeneCards Summary for MYH7B Gene

MYH7B (Myosin Heavy Chain 7B) is a Protein Coding gene. Diseases associated with MYH7B include Left Ventricular Noncompaction and Glutathione Synthetase Deficiency. Among its related pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include nucleotide binding and actin filament binding. An important paralog of this gene is MYH7.

UniProtKB/Swiss-Prot for MYH7B Gene

  • Involved in muscle contraction.

Gene Wiki entry for MYH7B Gene

Additional gene information for MYH7B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH7B Gene

Genomics for MYH7B Gene

GeneHancer (GH) Regulatory Elements for MYH7B Gene

Promoters and enhancers for MYH7B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J034954 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 665.3 +0.1 110 2.7 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 MYH7B GSS RBM12 CPNE1 NCOA6 ERGIC3 RPL36P4 TRPC4AP ENSG00000272945 PROCR
GH20J035052 Enhancer 0.9 ENCODE dbSUPER 15.2 +96.8 96768 0.8 ELF3 FOXA2 ZNF792 SAP130 ZNF644 RBPJ ZSCAN9 RARA TEAD3 IKZF5 MYH7B MMP24 ENSG00000201151 NCOA6 MMP24OS PIR41538 RNU6-407P TRPC4AP
GH20J034994 Enhancer 1 ENCODE dbSUPER 12.8 +38.7 38735 0.8 ELF3 MLX ZFP64 ARID4B DMAP1 ZNF48 RARA SLC30A9 RXRA MXD4 MYH7B TRPC4AP MMP24OS NCOA6 GC20M034988 GC20M035031
GH20J035008 Enhancer 0.8 ENCODE dbSUPER 14.7 +53.2 53198 0.4 FOXA2 RXRA MAX RAD21 FOXA1 NR2F2 YY1 ZNF121 SP1 JUND MYH7B GC20M034988 GC20M035031 TRPC4AP
GH20J034977 Enhancer 0.7 ENCODE dbSUPER 15.4 +22.7 22711 1.5 SAP130 EGR1 VEZF1 ZMYM3 KDM1A MNT ZBTB33 GC20P034981 PIR41920 MYH7B NCOA6 TRPC4AP GSS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYH7B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYH7B gene promoter:
  • STAT3
  • AML1a
  • Arnt
  • Zic3
  • En-1
  • Ik-3
  • FAC1
  • Pax-4a

Genomic Locations for MYH7B Gene

Genomic Locations for MYH7B Gene
46,603 bases
Plus strand
46,537 bases
Plus strand

Genomic View for MYH7B Gene

Genes around MYH7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH7B Gene

Proteins for MYH7B Gene

  • Protein details for MYH7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q5JVW7
    • Q6NT44
    • Q6NT57
    • Q6WG75
    • Q96I57
    • Q9NWE2
    • Q9P216

    Protein attributes for MYH7B Gene

    1983 amino acids
    Molecular mass:
    225845 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).
    • Expression does not vary in normal patients compared to patients with acute monocytic leukemia.
    • The cardiac alpha isoform is a fast ATPase myosin, while the beta isoform is a slow ATPase.
    • Sequence=BAA96036.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MYH7B Gene


neXtProt entry for MYH7B Gene

Post-translational modifications for MYH7B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MYH7B Gene

Domains & Families for MYH7B Gene

Gene Families for MYH7B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH7B: view

Function for MYH7B Gene

Molecular function for MYH7B Gene

UniProtKB/Swiss-Prot Function:
Involved in muscle contraction.

Phenotypes From GWAS Catalog for MYH7B Gene

Gene Ontology (GO) - Molecular Function for MYH7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA,IPI 23455924
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYH7B: view
genes like me logo Genes that share phenotypes with MYH7B: view

Animal Model Products

miRNA for MYH7B Gene

miRTarBase miRNAs that target MYH7B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYH7B Gene

Localization for MYH7B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH7B Gene

Membrane; Peripheral membrane protein.

Subcellular locations from

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 MYH7B gene
Compartment Confidence
cytoskeleton 4
mitochondrion 3
cytosol 3
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for MYH7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016459 myosin complex IEA --
GO:0032982 myosin filament IEA --
GO:0097512 cardiac myofibril IEA --
genes like me logo Genes that share ontologies with MYH7B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYH7B Gene

Pathways & Interactions for MYH7B Gene

genes like me logo Genes that share pathways with MYH7B: view

Gene Ontology (GO) - Biological Process for MYH7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA --
genes like me logo Genes that share ontologies with MYH7B: view

No data available for SIGNOR curated interactions for MYH7B Gene

Drugs & Compounds for MYH7B Gene

No Compound Related Data Available

Transcripts for MYH7B Gene

Unigene Clusters for MYH7B Gene

Myosin, heavy chain 7B, cardiac muscle, beta:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYH7B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^
SP4: -
SP5: -
SP10: -
SP11: -

ExUns: 22 ^ 23a · 23b · 23c · 23d
SP5: -
SP11: -

Relevant External Links for MYH7B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MYH7B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYH7B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH7B Gene

This gene is overexpressed in Heart - Left Ventricle (x19.1), Heart - Atrial Appendage (x10.3), and Muscle - Skeletal (x5.0).

Protein differential expression in normal tissues from HIPED for MYH7B Gene

This gene is overexpressed in Heart (39.3), Bone marrow stromal cell (14.3), and Cerebrospinal fluid (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYH7B Gene

NURSA nuclear receptor signaling pathways regulating expression of MYH7B Gene:


SOURCE GeneReport for Unigene cluster for MYH7B Gene:


mRNA Expression by UniProt/SwissProt for MYH7B Gene:

Tissue specificity: Expressed in heart, skeletal muscle, testis, and all specific brain regions examined. Slightly lower expression was detected in ovary and kidney, and intermediate expression was detected in lung, pancreas, spleen and liver.

Evidence on tissue expression from TISSUES for MYH7B Gene

  • Nervous system(4.2)
  • Skin(4.1)
  • Lung(4)
  • Pancreas(2.9)
  • Heart(2.7)
  • Muscle(2.6)
  • Liver(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH7B Gene

Germ Layers:
  • endoderm
  • mesoderm
  • cardiovascular
  • respiratory
Head and neck:
  • ear
  • heart
  • heart valve
  • lung
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with MYH7B: view

No data available for Protein tissue co-expression partners for MYH7B Gene

Orthologs for MYH7B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYH7B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MYH7B 34 33
  • 99.63 (n)
(Bos Taurus)
Mammalia MYH7B 34 33
  • 91.76 (n)
(Canis familiaris)
Mammalia MYH7B 34 33
  • 91.35 (n)
(Rattus norvegicus)
Mammalia Myh7b 33
  • 89.32 (n)
(Mus musculus)
Mammalia Myh7b 16 34 33
  • 89.22 (n)
(Monodelphis domestica)
Mammalia MYH7B 34
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 56 (a)
(Gallus gallus)
Aves MYH7B 34 33
  • 78.36 (n)
(Anolis carolinensis)
Reptilia MYH7B 34
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia myh7b 33
  • 72.33 (n)
(Danio rerio)
Actinopterygii myh7ba 34
  • 73 (a)
myh7bb 34
  • 71 (a)
MYH7B (3 of 3) 34
  • 70 (a)
myh7 33
  • 69.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mhc 34
  • 52 (a)
(Caenorhabditis elegans)
Secernentea myo-3 34 33
  • 53.78 (n)
myo-5 34
  • 47 (a)
unc-54 34
  • 47 (a)
myo-2 34
  • 45 (a)
myo-6 34
  • 44 (a)
myo-1 34
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 34
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
-- 34
  • 65 (a)
-- 34
  • 65 (a)
-- 34
  • 65 (a)
-- 34
  • 65 (a)
-- 34
  • 64 (a)
-- 34
  • 51 (a)
Species where no ortholog for MYH7B 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)
  • 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 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)

Evolution for MYH7B Gene

Gene Tree for MYH7B (if available)
Gene Tree for MYH7B (if available)
Evolutionary constrained regions (ECRs) for MYH7B: view image

Paralogs for MYH7B Gene

Paralogs for MYH7B Gene

(30) SIMAP similar genes for MYH7B Gene using alignment to 6 proteins:

  • Q5JW45_HUMAN
  • Q5JW46_HUMAN
  • Q5JW47_HUMAN
  • Q5JW48_HUMAN
  • Q5JW49_HUMAN
genes like me logo Genes that share paralogs with MYH7B: view

Variants for MYH7B Gene

Sequence variations from dbSNP and Humsavar for MYH7B Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs192442930 uncertain-significance, Glutathione synthetase deficiency 34,955,781(+) C/A/G upstream_transcript_variant
rs570588543 uncertain-significance, Glutathione synthetase deficiency 34,955,798(+) C/G upstream_transcript_variant
rs575728230 uncertain-significance, Glutathione synthetase deficiency 34,955,734(+) C/T upstream_transcript_variant
rs886056641 uncertain-significance, Glutathione synthetase deficiency 34,955,747(+) A/T upstream_transcript_variant
rs890971530 uncertain-significance, Glutathione synthetase deficiency 34,955,736(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MYH7B Gene

Variant ID Type Subtype PubMed ID
nsv1055447 CNV loss 25217958
nsv1063673 CNV loss 25217958
nsv3362 CNV insertion 18451855
nsv833962 CNV loss 17160897

Variation tolerance for MYH7B Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.85; 86.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYH7B Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH7B Gene

Disorders for MYH7B Gene

MalaCards: The human disease database

(3) MalaCards diseases for MYH7B Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
left ventricular noncompaction
  • left ventricular hypertrabeculation
glutathione synthetase deficiency
  • 5-oxoprolinase deficiency
monocytic leukemia
  • schilling's leukemia
- elite association - COSMIC cancer census association via MalaCards
Search MYH7B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYH7B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYH7B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYH7B Gene

Publications for MYH7B Gene

  1. Evolutionary implications of three novel members of the human sarcomeric myosin heavy chain gene family. (PMID: 11919279) Desjardins PR … Stedman HH (Molecular biology and evolution 2002) 2 3 4 58
  2. A genome-wide association study of the Protein C anticoagulant pathway. (PMID: 22216198) Athanasiadis G … Soria JM (PloS one 2011) 3 44 58
  3. Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study. (PMID: 20224305) Debniak T … Lubiński J (Melanoma research 2010) 3 44 58
  4. Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population. (PMID: 20520619) Srivastava K … Mittal B (Journal of human genetics 2010) 3 44 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for MYH7B Gene

Sources for MYH7B Gene

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