Gene ResultMYBPH Myosin Binding Protein H [ (human)] - NCBI

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Create FileAdd to ClipboardAdd to Collections MYBPH myosin binding protein H [ Homo sapiens (human) ] Gene ID: 4608, updated on 25-Nov-2025 Gene Sequences (FASTA) Transcript sequences (FASTA) Protein sequences(FASTA)

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Summary

Go to the top of the page Help Official Symbol MYBPHprovided by HGNC Official Full Name myosin binding protein Hprovided by HGNC Primary source HGNC:HGNC:7552 See related Ensembl:ENSG00000133055 MIM:160795; AllianceGenome:HGNC:7552 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be a structural constituent of muscle. Predicted to be involved in sarcomere organization. Predicted to be located in myosin filament. Predicted to be active in M band. [provided by Alliance of Genome Resources, Jul 2025] Expression Biased expression in prostate (RPKM 3.0), kidney (RPKM 0.5) and 4 other tissues See more Orthologs mouse all NEW Try the new Gene table Try the new Transcript table

Genomic context

Go to the top of the page Help See MYBPH in Genome Data Viewer Location: 1q32.1 Exon count: 12
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203167811..203179214, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202430562..202441596, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203136939..203144954, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence: NC_000001.11 Chromosome 1 Reference GRCh38.p14 Primary Assembly NC_060925.1 Chromosome 1 Alternate T2T-CHM13v2.0 NC_000001.10 Chromosome 1 Reference GRCh37.p13 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help See details Tissue-specific circular RNA induction during human fetal development RNA sequencing of total RNA from 20 human tissues HPA RNA-seq normal tissues
  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients. Mouton JM, et al. Hum Genet, 2016 May. PMID 26969327
  2. Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients. Conti A, et al. Biochim Biophys Acta, 2014 Jan. PMID 24184715
  3. Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization. Vaughan KT, et al. Genomics, 1993 Apr. PMID 8486381
  4. MYBPH inhibits NM IIA assembly via direct interaction with NMHC IIA and reduces cell motility. Hosono Y, et al. Biochem Biophys Res Commun, 2012 Nov 9. PMID 23068101
  5. MYBPH, a transcriptional target of TTF-1, inhibits ROCK1, and reduces cell motility and metastasis. Hosono Y, et al. EMBO J, 2012 Jan 18. PMID 22085929, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. variation in MYBPH can modulate the severity of hypertrophy in hypertrophic cardiomyopathy patients. Title: MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.
  2. MyBP-H expression signals the onset of dysregulation in actin-myosin interaction; this in turn might contribute to the pathogenesis of amyotrophic lateral sclerosis. Title: Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients.
  3. These results suggest that MYBPH inhibits RLC and NMHC IIA, independent components of NM IIA, and negatively regulates actomyosin organization at 2 distinct steps, resulting in firm inhibition of NM IIA assembly. Title: MYBPH inhibits NM IIA assembly via direct interaction with NMHC IIA and reduces cell motility.
  4. MYBPH inhibited assembly competence-conferring phosphorylation of the myosin regulatory light chain (RLC) as well as activating phosphorylation of LIM domain kinase, unexpectedly through its direct physical interaction with Rho kinase 1 Title: MYBPH, a transcriptional target of TTF-1, inhibits ROCK1, and reduces cell motility and metastasis.
  5. Observational study of gene-disease association. (HuGE Navigator) Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.EBI GWAS CatalogEBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

  • SHGC-76152 (e-PCR)
    • UniSTS:40741
  • RH93718 (e-PCR)
    • UniSTS:87955
  • SHGC-155998 (e-PCR)
    • UniSTS:185258
  • STS-AA025771 (e-PCR)
    • UniSTS:29884

Homology

  • NCBI Orthologs
    • Orthologs from OrthoDB

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI Inferred from Physical Interactionmore info PubMed 
enables structural constituent of muscle IBA Inferred from Biological aspect of Ancestormore info  
enables structural constituent of muscle IEA Inferred from Electronic Annotationmore info  
enables structural constituent of muscle TAS Traceable Author Statementmore info PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IEA Inferred from Electronic Annotationmore info  
involved_in regulation of striated muscle contraction TAS Traceable Author Statementmore info PubMed 
involved_in sarcomere organization IBA Inferred from Biological aspect of Ancestormore info  
Component Evidence Code Pubs
is_active_in M band IBA Inferred from Biological aspect of Ancestormore info  
located_in myosin filament IEA Inferred from Electronic Annotationmore info  

General protein information

Go to the top of the page Help Preferred Names myosin-binding protein H Names H-protein myBP-H

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004997.3 → NP_004988.2  myosin-binding protein H

    See identical proteins and their annotated locations for NP_004988.2

    Status: VALIDATED

    Source sequence(s) AC105940, BC044226, L05606 Consensus CDS CCDS30975.1 UniProtKB/Swiss-Prot Q13203, Q16886, Q86YC5 Related ENSP00000255416.4, ENST00000255416.9 Conserved Domains (4) summary cd00063Location:267 → 355 FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ... pfam07679Location:382 → 471 I-set; Immunoglobulin I-set domain cl11960Location:191 → 263 Ig; Immunoglobulin domain cl28408Location:4 → 69 UBQ; Ubiquitin homologues

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range 203167811..203179214 complement Download GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421205.1 → XP_047277161.1  myosin-binding protein H isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range 202430562..202441596 complement Download GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336733.1 → XP_054192708.1  myosin-binding protein H isoform X1

  2. XM_054336734.1 → XP_054192709.1  myosin-binding protein H isoform X1

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Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13203.4 GenPept UniProtKB/Swiss-Prot:Q13203
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Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
  • Interologous Interaction Database
    • Interologous Interaction Database
  • MilliporeSigma
    • MYBPH products
Molecular Biology Databases
  • Bgee database
    • MYBPH gene expression
  • BioGPS
    • BioGPS
  • BioGRID Open Repository of CRISPR Screens (ORCS)
    • BioGRID CRISPR Screen Phenotypes (17 hits/1348 screens)
  • Eukaryotic Promoter Database
    • MYBPH_1
  • GlyGen glycoinformatics resource
    • GlyGen glycoinformatics resource
  • Human eFP Browser
    • Human eFP Browser
    • Human eFP Browser
    • Human eFP Browser
  • Ingenuity Pathways Analysis
    • Ingenuity Pathways Analysis
  • InnateDB
    • InnateDB
  • InterMine
    • InterMine
  • Kyoto Encyclopedia of Genes and Genomes
    • Kyoto Encyclopedia of Genes and Genomes
  • OMA Browser: Orthologous MAtrix
    • OMA Browser: Orthologous MAtrix
  • OrthoDB catalog of orthologs
    • Orthologs
  • PhosphoSitePlus
    • PhosphoSitePlus® - comprehensive post-translational modification resource
  • The Weizmann Institute of Science GeneCards and MalaCards databases
    • GeneCard for MYBPH
Research Materials
  • Addgene Non-profit plasmid repository
    • Get Plasmids - Addgene
  • Bio-Techne
    • MYBPH Antibodies
    • MYBPH Proteins
    • MYBPH Lysates
  • Creative Biogene
    • myosin binding protein H
  • ExactAntigen/Labome
    • reagents
    • reagent review
  • GenScript latest version of gene cDNA ORF Clone
    • GenScript latest version of gene cDNA ORF Clone
  • GeneCopoeia Inc.
    • Order TALEN/CRISPR clones
    • Order miRNA target clones
    • Order full-length ORF clone
  • GeneTex Inc
    • Find Quality Antibodies
  • OriGene Technologies
    • Order GeneID 4608 cDNA Clone|Lysate|Protein|Antibody|RNAi
Tools
  • GeneMANIA
    • GeneMANIA
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Supplemental Content

Table of contents

  • Summary
  • Genomic context
  • Genomic regions, transcripts, and products
  • Expression
  • Bibliography
  • Phenotypes
  • Variation
  • Pathways from PubChem
  • Interactions
  • General gene information Markers, Homology, Gene Ontology
  • General protein information
  • NCBI Reference Sequences (RefSeq)
  • Related sequences
  • Additional links

Genome Browsers

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Related information

  • Order cDNA clone Order cDNA clone
  • BioAssay by Target (List) BioAssays related to the gene by protein target or RNAi target
  • BioAssay, by Gene target PubChem BioAssays done on the Gene target
  • BioAssays, RNAi Target, Tested BioAssays that contain the gene as the target of a RNAi reagent
  • BioProjects BioProjects related to a gene
  • CCDS Link to CCDS
  • ClinVar Related medical variations
  • Conserved Domains Related CDD
  • dbVar Link from Gene to dbVar
  • Full text in PMC PMC links
  • Full text in PMC_nucleotide Full text in PubMedCentral identified from shared sequence links
  • Functional Class Functional class of the sequence domain architecture
  • Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side
  • Genome Related Genome
  • GEO Profiles Related GEO
  • GTR Tests for this gene in the NIH Genetic Testing Registry
  • HomoloGene Related HomoloGene
  • Nucleotide Link to related Nucleotide entry
  • OMIM Link to related OMIM entry
  • Protein Link to related protein entry
  • PubChem Compound PubChem Compounds
  • PubChem Substance PubChem Substances
  • PubMed Link to related PubMed entry
  • PubMed (GeneRIF) Link to related PubMed article from GeneRIFs
  • PubMed (OMIM) Gene links to PubMed derived from omim_pubmed_cited links
  • PubMed(nucleotide/PMC) Citations in PubMed identified from shared sequence and PMC links.
  • RefSeq Proteins Link to Protein RefSeqs
  • RefSeq RNAs Link to Nucleotide RefSeq RNAs
  • SNP Related SNP records
  • Taxonomy Link to related taxonomy entry
  • Variation Viewer Related Variants

Links to other resources

  • HGNC
  • Ensembl
  • AllianceGenome
  • AceView
  • PharmGKB
  • UCSC
  • MGC
  • HuGE Navigator
  • KEGG

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