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Aliases for MYBPH Gene

Aliases for MYBPH Gene

  • Myosin Binding Protein H 2 3 5
  • H-Protein 3 4
  • MyBP-H 3 4
  • Myosin-Binding Protein H 2

External Ids for MYBPH Gene

Previous GeneCards Identifiers for MYBPH Gene

  • GC01M200820
  • GC01M198566
  • GC01M199603
  • GC01M200425
  • GC01M199868
  • GC01M201403
  • GC01M174302

Summaries for MYBPH Gene

GeneCards Summary for MYBPH Gene

MYBPH (Myosin Binding Protein H) is a Protein Coding gene. Diseases associated with MYBPH include measles. Among its related pathways are Actin Nucleation by ARP-WASP Complex and G13 Signaling Pathway. GO annotations related to this gene include structural constituent of muscle. An important paralog of this gene is MYBPC2.

UniProtKB/Swiss-Prot for MYBPH Gene

  • Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYBPH Gene

Genomics for MYBPH Gene

Regulatory Elements for MYBPH Gene

Enhancers for MYBPH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYBPH on UCSC Golden Path with GeneCards custom track

Genomic Location for MYBPH Gene

Chromosome:
1
Start:
203,167,811 bp from pter
End:
203,175,966 bp from pter
Size:
8,156 bases
Orientation:
Minus strand

Genomic View for MYBPH Gene

Genes around MYBPH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MYBPH Gene

Proteins for MYBPH Gene

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

    Protein Symbol:
    Q13203-MYBPH_HUMAN
    Recommended name:
    Myosin-binding protein H
    Protein Accession:
    Q13203
    Secondary Accessions:
    • Q16886
    • Q86YC5

    Protein attributes for MYBPH Gene

    Size:
    477 amino acids
    Molecular mass:
    52050 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MYBPH Gene

Proteomics data for MYBPH Gene at MOPED

Post-translational modifications for MYBPH Gene

  • Ubiquitination at Lys 427
  • Modification sites at PhosphoSitePlus

Other Protein References for MYBPH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MYBPH

No data available for DME Specific Peptides for MYBPH Gene

Domains & Families for MYBPH Gene

Suggested Antigen Peptide Sequences for MYBPH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13203

UniProtKB/Swiss-Prot:

MYBPH_HUMAN :
  • Contains 2 fibronectin type-III domains.
  • Belongs to the immunoglobulin superfamily. MyBP family.
Domain:
  • Contains 2 fibronectin type-III domains.
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. MyBP family.
genes like me logo Genes that share domains with MYBPH: view

Function for MYBPH Gene

Molecular function for MYBPH Gene

GENATLAS Biochemistry:
myosin binding protein H
UniProtKB/Swiss-Prot Function:
Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.
genes like me logo Genes that share phenotypes with MYBPH: view

Animal Model Products

miRNA for MYBPH Gene

miRTarBase miRNAs that target MYBPH

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYBPH Gene

Localization for MYBPH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYBPH Gene COMPARTMENTS Subcellular localization image for MYBPH gene
Compartment Confidence
cytoskeleton 4
cytosol 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
extracellular 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MYBPH Gene

Pathways & Interactions for MYBPH Gene

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

Pathways by source for MYBPH Gene

1 BioSystems pathway for MYBPH Gene
1 Qiagen pathway for MYBPH Gene

Gene Ontology (GO) - Biological Process for MYBPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with MYBPH: view

No data available for SIGNOR curated interactions for MYBPH Gene

Drugs & Compounds for MYBPH Gene

(1) Drugs for MYBPH Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker 1059
genes like me logo Genes that share compounds with MYBPH: view

Transcripts for MYBPH Gene

mRNA/cDNA for MYBPH Gene

Unigene Clusters for MYBPH Gene

Myosin binding protein H:
Representative Sequences:

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

No ASD Table

Relevant External Links for MYBPH Gene

GeneLoc Exon Structure for
MYBPH
ECgene alternative splicing isoforms for
MYBPH

Expression for MYBPH Gene

mRNA expression in normal human tissues for MYBPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (x29.0) and Minor Salivary Gland (x14.5).

Protein differential expression in normal tissues from HIPED for MYBPH Gene

This gene is overexpressed in Tonsil (44.4) and Esophagus (24.6).

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



SOURCE GeneReport for Unigene cluster for MYBPH Gene Hs.927

mRNA Expression by UniProt/SwissProt for MYBPH Gene

Q13203-MYBPH_HUMAN
Tissue specificity: Skeletal muscle.
genes like me logo Genes that share expression patterns with MYBPH: view

Protein tissue co-expression partners for MYBPH Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for MYBPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYBPH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYBPH 35
  • 85.95 (n)
  • 82.39 (a)
MYBPH 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYBPH 35
  • 85.39 (n)
  • 83.62 (a)
MYBPH 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mybph 35
  • 85.95 (n)
  • 85.95 (a)
Mybph 16
Mybph 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYBPH 35
  • 99.16 (n)
  • 98.11 (a)
MYBPH 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mybph 35
  • 82.53 (n)
  • 81.13 (a)
oppossum
(Monodelphis domestica)
Mammalia MYBPH 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves MYBPH 35
  • 66.35 (n)
  • 58.16 (a)
MYBPH 36
  • 48 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mybph 35
  • 57.81 (n)
  • 56.86 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
mybpha 35
  • 58.15 (n)
  • 52.38 (a)
mybpha 36
  • 46 (a)
ManyToMany
mybphb 36
  • 43 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
OneToMany
Species with no ortholog for MYBPH:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MYBPH Gene

ENSEMBL:
Gene Tree for MYBPH (if available)
TreeFam:
Gene Tree for MYBPH (if available)

Paralogs for MYBPH Gene

Paralogs for MYBPH Gene

(8) SIMAP similar genes for MYBPH Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MYBPH: view

Variants for MYBPH Gene

Sequence variations from dbSNP and Humsavar for MYBPH Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2788532 - 203,175,612(+) GGGGC(C/G)TGCGG upstream-variant-2KB, reference, missense
rs2791721 - 203,175,610(+) CAGGG(A/C/G)CCTGC upstream-variant-2KB, reference, missense
rs2642531 - 203,174,597(-) CTCAG(C/G)CTCGG upstream-variant-2KB, reference, missense
rs883125 -- 203,177,038(+) agcaa(C/G)ttcag upstream-variant-2KB
rs903359 -- 203,177,621(-) GATCC(A/C)GTCTC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv832370 CNV Loss 17160897

Variation tolerance for MYBPH Gene

Residual Variation Intolerance Score: 81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.25; 81.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYBPH Gene

HapMap Linkage Disequilibrium report
MYBPH

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

Disorders for MYBPH Gene

MalaCards: The human disease database

(1) MalaCards diseases for MYBPH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
measles
  • morbilli
- elite association - COSMIC cancer census association via MalaCards
Search MYBPH in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYBPH

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

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

Publications for MYBPH Gene

  1. Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization. (PMID: 8486381) Vaughan K.T. … Fischman D.A. (Genomics 1993) 2 3 4 23 67
  2. Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. (PMID: 10024460) Gruen M. … Gautel M. (J. Mol. Biol. 1999) 3 23
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients. (PMID: 24184715) Conti A. … Alessio M. (Biochim. Biophys. Acta 2014) 3
  5. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. (PMID: 25187353) Goldstein J.I. … Sullivan P.F. (Nat Commun 2014) 3

Products for MYBPH Gene

Sources for MYBPH Gene

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