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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 MYBPC2.

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

Genomics for MYBPHL Gene

Regulatory Elements for MYBPHL Gene

Enhancers for MYBPHL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYBPHL on UCSC Golden Path with GeneCards custom track

Genomic Location for MYBPHL Gene

Chromosome:
1
Start:
109,292,365 bp from pter
End:
109,307,041 bp from pter
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

Proteomics data for MYBPHL Gene at MOPED

Post-translational modifications for MYBPHL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYBPHL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MYBPHL

No data available for DME Specific Peptides for MYBPHL Gene

Domains & Families for MYBPHL Gene

Protein Domains for MYBPHL Gene

Suggested Antigen Peptide Sequences for MYBPHL Gene

Graphical View of Domain Structure for InterPro Entry

A2RUH7

UniProtKB/Swiss-Prot:

MBPHL_HUMAN :
  • Contains 1 fibronectin type-III domain.
  • Belongs to the immunoglobulin superfamily. MyBP family.
Domain:
  • Contains 1 fibronectin type-III domain.
  • 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 MYBPHL: view

Function for MYBPHL Gene

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

Animal Models for MYBPHL Gene

MGI Knock Outs for MYBPHL:

Animal Model Products

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

Localization for MYBPHL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYBPHL Gene COMPARTMENTS Subcellular localization image for MYBPHL gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1
extracellular 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MYBPHL Gene

Pathways & Interactions for MYBPHL Gene

SuperPathways for MYBPHL Gene

No Data Available

Interacting Proteins for MYBPHL Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000349678%0d%0a9606.ENSP00000403397%0d%0a9606.ENSP00000362107%0d%0a
Selected Interacting proteins: A2RUH7-MBPHL_HUMAN ENSP00000349678 for MYBPHL Gene via UniProtKB STRING

Gene Ontology (GO) - Biological Process for MYBPHL Gene

None

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) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYBPHL Gene

Myosin binding protein H-like:
Representative Sequences:

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 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).

SOURCE GeneReport for Unigene cluster for MYBPHL Gene Hs.443402

genes like me logo Genes that share expression patterns with MYBPHL: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia MYBPHL 35
  • 88.7 (n)
  • 90.11 (a)
MYBPHL 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYBPHL 35
  • 86.26 (n)
  • 87.61 (a)
MYBPHL 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mybphl 35
  • 85.5 (n)
  • 83.33 (a)
Mybphl 16
Mybphl 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYBPHL 35
  • 99.15 (n)
  • 99.15 (a)
MYBPHL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mybphl 35
  • 85.59 (n)
  • 85.03 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 43 (a)
OneToMany
chicken
(Gallus gallus)
Aves MYBPH 36
  • 38 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5437 35
African clawed frog
(Xenopus laevis)
Amphibia MGC64588 35
zebrafish
(Danio rerio)
Actinopterygii mybpha 36
  • 36 (a)
ManyToMany
mybphb 36
  • 34 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 16 (a)
OneToMany
Species with no ortholog for MYBPHL:
  • 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 Sequence Context AA Info Type
rs629001 - 109,296,296(-) TGGCC(A/G)ACTGC reference, missense
rs367586 -- 109,307,500(+) ATCCT(A/C)CCCCG upstream-variant-2KB
rs407102 -- 109,303,656(-) AGATC(A/G)ACAAC intron-variant
rs413582 -- 109,308,504(+) TTTGC(C/T)ATATC upstream-variant-2KB
rs417270 -- 109,306,522(-) GATAT(A/G)CTAAT intron-variant

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)

Relevant External Links for MYBPHL Gene

HapMap Linkage Disequilibrium report
MYBPHL
Human Gene Mutation Database (HGMD)
MYBPHL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MYBPHL Gene

Disorders for MYBPHL Gene

Relevant External Links for MYBPHL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. 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 S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for MYBPHL Gene

Sources for MYBPHL Gene

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