Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MYBPHL Gene

Aliases for MYBPHL Gene

  • Myosin Binding Protein H Like 2 3 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. An important paralog of this gene is MYBPH.

Additional gene information for MYBPHL Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYBPHL Gene

Genomics for MYBPHL Gene

GeneHancer (GH) Regulatory Elements for MYBPHL Gene

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
GH01I109305 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 0.0 -2 2.8 HNRNPUL1 PKNOX1 ATF1 ARNT TCF12 E2F8 ATF7 ZNF263 NCOA1 MBD2 MYBPHL SYPL2 ENSG00000258634 RPS27P6 PRPF38B RPL17P7 GNAI3 WDR47 GC01P109313
GH01I109308 Enhancer 0.4 ENCODE dbSUPER 550.8 -1.6 -1604 0.1 MYBPHL GC01P109313
GH01I109389 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 -87.4 -87417 10.7 CLOCK MLX ZFP64 DMAP1 IRF4 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SORT1 SYPL2 PRPF38B RBM15 PSRC1 ENSG00000258634 ENSG00000273373 MYBPHL STRIP1 SARS
GH01I109213 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.7 +92.0 91984 3.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GC01M109214 SARS GNAI3 SORT1 ENSG00000258634 PSRC1 MYBPHL CELSR2 GC01P109222
GH01I109296 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8 +8.0 8002 4.4 PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B DMAP1 SLC30A9 ZNF766 ZHX2 SYPL2 PRPF38B ENSG00000258634 RPL17P7 MYBPHL ATXN7L2 SORT1 PSRC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYBPHL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYBPHL gene promoter:

Genomic Locations for MYBPHL Gene

Genomic Locations for MYBPHL Gene
chr1:109,292,365-109,307,041
(GRCh38/hg38)
Size:
14,677 bases
Orientation:
Minus strand
chr1:109,834,987-109,849,663
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for MYBPHL Gene

No data available for DME Specific Peptides for MYBPHL Gene

Domains & Families for MYBPHL Gene

Suggested Antigen Peptide Sequences for MYBPHL Gene

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

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
GO:0008307 structural constituent of muscle IBA --
GO:0051015 actin filament binding IBA --
GO:0051371 muscle alpha-actinin binding IBA --
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:

Animal Model Products

Clone Products

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

Localization for MYBPHL 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 MYBPHL gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MYBPHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005859 muscle myosin complex IBA --
GO:0030018 Z disc IBA --
GO:0031430 M band IBA --
genes like me logo Genes that share ontologies with MYBPHL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for MYBPHL Gene

Pathways & Interactions for MYBPHL Gene

SuperPathways for MYBPHL Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYBPHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006941 striated muscle contraction IBA --
GO:0007015 actin filament organization IBA --
GO:0008150 biological_process ND --
GO:0045214 sarcomere organization IBA --
GO:0071688 striated muscle myosin thick filament assembly IBA --
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

Unigene Clusters for MYBPHL Gene

Myosin binding protein H-like:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for MYBPHL Gene

GeneLoc Exon Structure for
MYBPHL
ECgene alternative splicing isoforms for
MYBPHL

Expression for MYBPHL Gene

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

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

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

NURSA nuclear receptor signaling pathways regulating expression of MYBPHL Gene:

MYBPHL

SOURCE GeneReport for Unigene cluster for MYBPHL Gene:

Hs.443402

Evidence on tissue expression from TISSUES for MYBPHL Gene

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt 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 33 34
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia MYBPHL 33 34
  • 88.7 (n)
dog
(Canis familiaris)
Mammalia MYBPHL 33 34
  • 86.26 (n)
rat
(Rattus norvegicus)
Mammalia Mybphl 33
  • 85.59 (n)
mouse
(Mus musculus)
Mammalia Mybphl 16 34 33
  • 85.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 43 (a)
OneToMany
chicken
(Gallus gallus)
Aves MYBPH 34
  • 38 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5437 33
African clawed frog
(Xenopus laevis)
Amphibia MGC64588 33
zebrafish
(Danio rerio)
Actinopterygii mybpha 34
  • 36 (a)
ManyToMany
mybphb 34
  • 34 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 16 (a)
OneToMany
Species where no ortholog for MYBPHL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MYBPHL Gene

Paralogs for MYBPHL Gene

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

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

Variants for MYBPHL Gene

Sequence variations from dbSNP and Humsavar for MYBPHL Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs796052188 likely-benign, Long QT syndrome 109,297,145(-) C/T coding_sequence_variant, missense_variant
rs1000104328 -- 109,306,022(-) A/T intron_variant
rs1000107586 -- 109,299,101(-) C/T intron_variant
rs1000277169 -- 109,296,424(-) G/A intron_variant
rs1000417720 -- 109,301,950(-) A/G intron_variant

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

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

Disorders for MYBPHL Gene

Additional Disease Information for MYBPHL

No disorders were found for MYBPHL Gene.

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

Publications for MYBPHL Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  2. 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) 3 58
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland SL … Hayden MR (Human molecular genetics 2014) 3 58

Products for MYBPHL Gene

Sources for MYBPHL Gene

Content
Loading form....