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Aliases for MYBPH Gene

Aliases for MYBPH Gene

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

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 Glycine Encephalopathy. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F203196 0.6 Ensembl ENCODE 23.2 -21.5 -21469 2.7 CTCF PKNOX1 KLF1 CBX3 TEAD4 MAX KLF17 SIN3A ZIC2 RAD21 MYBPH ENSG00000224671 CHI3L1 ADORA1 MYOG ENSG00000234775 LOC100131747 FMOD OPTC NPM1P40
GH01F203199 1.1 Ensembl ENCODE 22 -25.5 -25532 5.0 PKNOX1 RAD21 YY1 SCRT2 ZNF143 FOS ZNF263 ZNF654 HCFC1 CEBPB MYBPH ADORA1 ENSG00000224671 ENSG00000234775 MYOG FMOD LOC100131747 OPTC CHIT1 CHI3L1
GH01F203184 0.4 Ensembl 11.9 -10.3 -10335 3.0 KLF1 PKNOX1 MAX KLF17 SIN3A ZIC2 HIC1 GATA3 FOS ZNF600 CHI3L1 MYBPH
GH01F203217 0.8 Ensembl 11.8 -41.5 -41535 1.0 CTCF ZFHX2 HLF RAD21 EGR2 MYBPH CHI3L1 ENSG00000234775 ADORA1 ENSG00000224671 MYOG LOC100131747 FMOD OPTC NPM1P40
GH01F203214 1 Ensembl ENCODE 11.8 -39.8 -39810 1.9 GTF2F1 BCOR CTCF ESRRA KLF1 WRNIP1 ZMYM3 MAX RAD21 RFX5 MYBPH CHI3L1 ENSG00000234775 ADORA1 ENSG00000224671 MYOG FMOD LOC100131747 OPTC CHIT1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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

Post-translational modifications for MYBPH Gene

  • Ubiquitination at Lys 427
  • Modification sites at PhosphoSitePlus

Other Protein References for MYBPH Gene

ENSEMBL proteins:
REFSEQ proteins:

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.

Gene Ontology (GO) - Molecular Function for MYBPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22085929
GO:0008307 structural constituent of muscle TAS 8486381
genes like me logo Genes that share ontologies with MYBPH: view
genes like me logo Genes that share phenotypes with MYBPH: view

Animal Model Products

miRNA for MYBPH Gene

miRTarBase miRNAs that target MYBPH

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Cellular Components for MYBPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032982 myosin filament IEA --
genes like me logo Genes that share ontologies with MYBPH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0006942 regulation of striated muscle contraction TAS 8486381
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

Transcripts for MYBPH Gene

mRNA/cDNA for MYBPH Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(30) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYBPH Gene

Myosin binding protein H:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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



Protein tissue co-expression partners for MYBPH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYBPH Gene:

MYBPH

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia MYBPH 34 35
  • 99.16 (n)
cow
(Bos Taurus)
Mammalia MYBPH 34 35
  • 85.95 (n)
mouse
(Mus musculus)
Mammalia Mybph 34 16 35
  • 85.95 (n)
dog
(Canis familiaris)
Mammalia MYBPH 34 35
  • 85.39 (n)
rat
(Rattus norvegicus)
Mammalia Mybph 34
  • 82.53 (n)
oppossum
(Monodelphis domestica)
Mammalia MYBPH 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves MYBPH 34 35
  • 66.35 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mybph 34
  • 57.81 (n)
zebrafish
(Danio rerio)
Actinopterygii mybpha 34 35
  • 58.15 (n)
mybphb 35
  • 43 (a)
ManyToMany
-- 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 18 (a)
OneToMany
Species where no ortholog for MYBPH 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)
  • 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
rs1042295 -- 203,167,855(-) TGCAC(A/T)CTGGG downstream-variant-500B, utr-variant-3-prime
rs111389147 -- 203,176,174(+) TCTAT(A/G)GGGCC upstream-variant-2KB
rs111692033 -- 203,170,172(+) GGAGA(C/T)GGCAA intron-variant
rs111872258 -- 203,175,199(+) AGGAG(A/C)CTACT intron-variant
rs111887817 -- 203,176,043(+) GTGCC(A/C)AGCTG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv832370 CNV loss 17160897
nsv952639 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

Disorder Aliases PubMed IDs
glycine encephalopathy
  • non-ketotic hyperglycinemia
- 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 22 64
  2. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret G.B. … Chakravarti A. (Eur. J. Hum. Genet. 2009) 3 46 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. 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 22 64
  5. MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients. (PMID: 26969327) Mouton J.M. … Kinnear C. (Hum. Genet. 2016) 3 64

Products for MYBPH Gene

Sources for MYBPH Gene

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