MYBPH Gene (Protein Coding)

Myosin Binding Protein H

GC01M203136
GIFtS:
39

Aliases for MYBPH Gene

Aliases for MYBPH Gene

  • Myosin Binding Protein H 2 3 5
  • Myosin-Binding Protein H 2 3 4
  • 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 Measles and Lipodystrophy, Familial Partial, Type 4. Among its related pathways are G13 Signaling Pathway and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include structural constituent of muscle. An important paralog of this gene is MYBPC1.

UniProtKB/Swiss-Prot Summary for MYBPH Gene

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

Additional gene information for MYBPH Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYBPH Gene

Genomics for MYBPH Gene

GeneHancer (GH) Regulatory Elements for MYBPH Gene

Promoters and enhancers for MYBPH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYBPH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYBPH gene promoter:
  • AML1a
  • AP-1
  • c-Fos
  • c-Jun
  • RP58
  • RSRFC4

Genomic Locations for MYBPH Gene

Genomic Locations for MYBPH Gene
chr1:203,167,811-203,175,966
(GRCh38/hg38)
Size:
8,156 bases
Orientation:
Minus strand
chr1:203,136,939-203,144,942
(GRCh37/hg19)
Size:
8,004 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 Structure • Gene Density

RefSeq DNA sequence for MYBPH Gene

Proteins for MYBPH Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for MYBPH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYBPH Gene

  • Ubiquitination at Lys427
  • 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

Gene Families for MYBPH Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MYBPH Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYBPH Gene

GenScript: Design optimal peptide antigens:
  • H-protein (MYBPH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13203

UniProtKB/Swiss-Prot:

MYBPH_HUMAN :
  • Belongs to the immunoglobulin superfamily. MyBP family.
Family:
  • Belongs to the immunoglobulin superfamily. MyBP family.
genes like me logo Genes that share domains with MYBPH: view

Function for MYBPH Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MYBPH Gene

UniProtKB/Swiss-Prot Function:
Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.
GENATLAS Biochemistry:
myosin binding protein H

Phenotypes From GWAS Catalog for MYBPH Gene

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

CRISPR Products

miRNA for MYBPH Gene

miRTarBase miRNAs that target MYBPH

Inhibitory RNA Products

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

Clone 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
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 MYBPH gene
Compartment Confidence
cytoskeleton 4
cytosol 3
mitochondrion 2
nucleus 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

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

PathCards logo

SuperPathways for MYBPH Gene

SuperPathway Contained pathways
1 Actin Nucleation by ARP-WASP Complex
RhoA Pathway
.35
2 G13 Signaling Pathway
G13 Signaling Pathway
-
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
  • RhoA Pathway

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

Drugs & Compounds for MYBPH Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MYBPH Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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 to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for MYBPH Gene
mRNA expression by BioGPS for MYBPH GenemRNA expression by GTEx 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 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.

Evidence on tissue expression from TISSUES for MYBPH Gene

  • Muscle(4.4)
genes like me logo Genes that share expression patterns with MYBPH: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MYBPH Gene

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 33 32
  • 99.16 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mybph 17 33 32
  • 85.95 (n)
cow
(Bos Taurus)
 Mammalia MYBPH 33 32
  • 85.95 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MYBPH 33 32
  • 85.39 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Mybph 32
  • 82.53 (n)
oppossum
(Monodelphis domestica)
 Mammalia MYBPH 33
  • 73 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 58 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves MYBPH 33 32
  • 66.35 (n)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 54 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia mybph 32
  • 57.81 (n)
zebrafish
(Danio rerio)
 Actinopterygii mybpha 33 32
  • 58.15 (n)
 ManyToMany
mybphb 33
  • 43 (a)
 ManyToMany
-- 32
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYBPH: view image

Paralogs for MYBPH Gene

Paralogs for MYBPH Gene

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

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

Variants for MYBPH Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MYBPH Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000230349 -- 203,171,278(-) C/G intron_variant
rs1000808349 -- 203,175,865(-) C/T upstream_transcript_variant
rs1000837393 -- 203,170,066(-) T/C intron_variant
rs1001287878 -- 203,170,905(-) G/C intron_variant
rs1001503380 -- 203,167,327(-) C/A downstream_transcript_variant

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)

Additional Variant Information for MYBPH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYBPH

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYBPH Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search MYBPH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYBPH

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 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 KT … Fischman DA (Genomics 1993) 2 3 4 23 56
  2. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 43 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  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 (Journal of molecular biology 1999) 3 23 56
  5. MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients. (PMID: 26969327) Mouton JM … Kinnear C (Human genetics 2016) 3 56

ExternalLinks

View latest publications for MYBPH gene in Mastermind

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