This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] See more...

Aliases for MYBPHL Gene

Aliases for MYBPHL Gene

  • Myosin Binding Protein H Like 2 3 5
  • Myosin-Binding Protein H-Like 3 4
  • MYBPHL 5

External Ids for MYBPHL Gene

Previous GeneCards Identifiers for MYBPHL Gene

  • GC01M109548
  • GC01M109623
  • GC01M109636
  • GC01M109834
  • GC01M107728

Summaries for MYBPHL Gene

Entrez Gene Summary for MYBPHL Gene

  • This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

GeneCards Summary for MYBPHL Gene

MYBPHL (Myosin Binding Protein H Like) is a Protein Coding gene. Diseases associated with MYBPHL include Dilated Cardiomyopathy. An important paralog of this gene is MYBPH.

UniProtKB/Swiss-Prot Summary for MYBPHL Gene

  • Myosin-binding protein which plays a role in cardiac function (PubMed:28778945). Seems to regulate conduction in the atria and ventricular conduction systems (PubMed:28778945).

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

Genomics for MYBPHL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYBPHL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J109305 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 250.7 +2.4 2351 2.8 CEBPA IKZF1 HES1 MBD2 ZIC2 CEBPB VEZF1 NBN SMAD4 SAP130 MYBPHL lnc-SORT1-3 SYPL2 ENSG00000258634 ENSG00000228665 PRPF38B RPL17P7 GNAI3 WDR47 PSRC1
GH01J109309 Enhancer 0.6 Ensembl dbSUPER 250.7 -0.2 -207 1.2 FOXA2 POLR2A JUND HNF4A SP1 ATF3 MYBPHL MN308771 SORT1
GH01J109308 Enhancer 0.3 ENCODE dbSUPER 250.7 +0.7 749 0.1 MYBPHL lnc-SORT1-3 PSRC1
GH01J109314 Enhancer 0.2 dbSUPER 250.7 -1.9 -1949 0.3 MYBPHL MN308771 SORT1
GH01J109389 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -85.0 -84988 10.5 CHD2 TBP SP1 MXD4 FOXA1 MNT IKZF1 SMAD5 IRF2 HES1 SORT1 SYPL2 PRPF38B PSRC1 ENSG00000258634 ENSG00000273373 MYBPHL STRIP1 SARS1 AMIGO1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYBPHL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYBPHL

Top Transcription factor binding sites by QIAGEN in the MYBPHL gene promoter:
  • c-Myc
  • CHOP-10
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FOXL1
  • p300

Genomic Locations for MYBPHL Gene

Latest Assembly
chr1:109,292,365-109,309,394
(GRCh38/hg38)
Size:
17,030 bases
Orientation:
Minus strand

Previous Assembly
chr1:109,834,987-109,849,633
(GRCh37/hg19 by Entrez Gene)
Size:
14,647 bases
Orientation:
Minus strand

chr1:109,834,987-109,849,663
(GRCh37/hg19 by Ensembl)
Size:
14,677 bases
Orientation:
Minus strand

Genomic View for MYBPHL Gene

Genes around MYBPHL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MYBPHL Gene

Proteins for MYBPHL Gene

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

    Protein Symbol:
    A2RUH7-MBPHL_HUMAN
    Recommended name:
    Myosin-binding protein H-like
    Protein Accession:
    A2RUH7
    Secondary Accessions:
    • B7ZME5
    • Q5T2Z7

    Protein attributes for MYBPHL Gene

    Size:
    354 amino acids
    Molecular mass:
    38733 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MYBPHL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYBPHL Gene

Post-translational modifications for MYBPHL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYBPHL Gene

No data available for DME Specific Peptides for MYBPHL Gene

Domains & Families for MYBPHL Gene

Gene Families for MYBPHL Gene

Protein Domains for MYBPHL Gene

Suggested Antigen Peptide Sequences for MYBPHL Gene

GenScript: Design optimal peptide antigens:
  • MYBPHL protein (B7ZME5_HUMAN)
  • Myosin-binding protein H-like (MBPHL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A2RUH7

UniProtKB/Swiss-Prot:

MBPHL_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 MYBPHL: view

Function for MYBPHL Gene

Molecular function for MYBPHL Gene

UniProtKB/Swiss-Prot Function:
Myosin-binding protein which plays a role in cardiac function (PubMed:28778945). Seems to regulate conduction in the atria and ventricular conduction systems (PubMed:28778945).

Phenotypes From GWAS Catalog for MYBPHL Gene

Gene Ontology (GO) - Molecular Function for MYBPHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MYBPHL: view
genes like me logo Genes that share phenotypes with MYBPHL: view

Animal Models for MYBPHL Gene

MGI Knock Outs for MYBPHL:
  • Mybphl Mybphl<tm1a(KOMP)Wtsi>
  • Mybphl Mybphl<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MYBPHL Gene

Localization for MYBPHL Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYBPHL Gene

Cytoplasm, myofibril, sarcomere.

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 MYBPHL gene
Compartment Confidence
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MYBPHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0030017 sarcomere IEA --
GO:0036379 myofilament IDA 28778945
genes like me logo Genes that share ontologies with MYBPHL: view

Pathways & Interactions for MYBPHL Gene

PathCards logo

SuperPathways for MYBPHL Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYBPHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with MYBPHL: view

No data available for Pathways by source and SIGNOR curated interactions for MYBPHL Gene

Drugs & Compounds for MYBPHL Gene

No Compound Related Data Available

Transcripts for MYBPHL Gene

mRNA/cDNA for MYBPHL Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for MYBPHL Gene

GeneLoc Exon Structure for
MYBPHL

Expression for MYBPHL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Heart (Cardiovascular System)

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

This gene is overexpressed in Heart - Atrial Appendage (x42.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYBPHL

SOURCE GeneReport for Unigene cluster for MYBPHL Gene:

Hs.443402

mRNA Expression by UniProt/SwissProt for MYBPHL Gene:

A2RUH7-MBPHL_HUMAN
Tissue specificity: Expressed in heart, with higher expression in the atria.

Evidence on tissue expression from TISSUES for MYBPHL Gene

  • Lung(4)
  • Heart(2.5)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with MYBPHL: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYBPHL Gene

Orthologs for MYBPHL Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYBPHL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYBPHL 30 31
  • 99.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYBPHL 30 31
  • 88.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYBPHL 30 31
  • 86.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mybphl 30
  • 85.59 (n)
Mouse
(Mus musculus)
Mammalia Mybphl 30 17 31
  • 85.5 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 43 (a)
OneToMany
Chicken
(Gallus gallus)
Aves MYBPH 31
  • 38 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 43 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC64588 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.5437 30
Zebrafish
(Danio rerio)
Actinopterygii mybpha 31
  • 36 (a)
ManyToMany
mybphb 31
  • 34 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 16 (a)
OneToMany
Species where no ortholog for MYBPHL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (Ciona intestinalis)
  • 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 MYBPHL Gene

ENSEMBL:
Gene Tree for MYBPHL (if available)
TreeFam:
Gene Tree for MYBPHL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYBPHL: view image

Paralogs for MYBPHL Gene

Paralogs for MYBPHL Gene

(4) SIMAP similar genes for MYBPHL Gene using alignment to 2 proteins:

  • MBPHL_HUMAN
  • B7ZME5_HUMAN
genes like me logo Genes that share paralogs with MYBPHL: view

Variants for MYBPHL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYBPHL Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
994289 Uncertain Significance: none provided 109,296,338(-) G/A
NM_001010985.3(MYBPHL):c.763C>T (p.Arg255Ter)
NONSENSE
rs796052188 Likely Benign: Long QT syndrome 109,297,145(-) C/T
NM_001010985.3(MYBPHL):c.475G>A (p.Gly159Ser)
MISSENSE
rs629001 - p.Asp269Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYBPHL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3587150 CNV loss 21293372

Variation tolerance for MYBPHL Gene

Residual Variation Intolerance Score: 93.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYBPHL Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for MYBPHL Gene

MalaCards: The human disease database

(1) MalaCards diseases for MYBPHL Gene - From: COP and GCD

Disorder Aliases PubMed IDs
dilated cardiomyopathy
  • congestive cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MYBPHL

genes like me logo Genes that share disorders with MYBPHL: view

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

Publications for MYBPHL Gene

  1. Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy. (PMID: 28778945) Barefield DY … McNally EM (Circulation 2017) 2 3 4
  2. Myosin binding protein H-like (MYBPHL): a promising biomarker to predict atrial damage. (PMID: 31292467) Lahm H … Krane M (Scientific reports 2019) 3 4
  3. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. (PMID: 31391242) Nowak M … Sommer T (Journal of cell science 2019) 3

Products for MYBPHL Gene

Sources for MYBPHL Gene