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MYBPH (myosin binding protein H)

Identity

Alias_namesmyosin-binding protein H
Other alias-
HGNC (Hugo) MYBPH
LocusID (NCBI) 4608
Atlas_Id 70599
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 203136939 and ends at 203144942 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PHLDA3 (1q32.1) / MYBPH (1q32.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MYBPH   7552
Cards
Entrez_Gene (NCBI)MYBPH  4608  myosin binding protein H
Aliases
GeneCards (Weizmann)MYBPH
Ensembl hg19 (Hinxton)ENSG00000133055 [Gene_View]  chr1:203136939-203144942 [Contig_View]  MYBPH [Vega]
Ensembl hg38 (Hinxton)ENSG00000133055 [Gene_View]  chr1:203136939-203144942 [Contig_View]  MYBPH [Vega]
ICGC DataPortalENSG00000133055
TCGA cBioPortalMYBPH
AceView (NCBI)MYBPH
Genatlas (Paris)MYBPH
WikiGenes4608
SOURCE (Princeton)MYBPH
Genetics Home Reference (NIH)MYBPH
Genomic and cartography
GoldenPath hg19 (UCSC)MYBPH  -     chr1:203136939-203144942 -  1q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYBPH  -     1q32.1   [Description]    (hg38-Dec_2013)
EnsemblMYBPH - 1q32.1 [CytoView hg19]  MYBPH - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBIMYBPH [Mapview hg19]  MYBPH [Mapview hg38]
OMIM160795   
Gene and transcription
Genbank (Entrez)BC044226 L05606
RefSeq transcript (Entrez)NM_004997
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)MYBPH
Cluster EST : UnigeneHs.927 [ NCBI ]
CGAP (NCI)Hs.927
Alternative Splicing GalleryENSG00000133055
Gene ExpressionMYBPH [ NCBI-GEO ]   MYBPH [ EBI - ARRAY_EXPRESS ]   MYBPH [ SEEK ]   MYBPH [ MEM ]
Gene Expression Viewer (FireBrowse)MYBPH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4608
GTEX Portal (Tissue expression)MYBPH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13203   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13203  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13203
Splice isoforms : SwissVarQ13203
PhosPhoSitePlusQ13203
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)   
Domain families : Pfam (NCBI)pfam00041    pfam07679   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)MYBPH
DMDM Disease mutations4608
Blocks (Seattle)MYBPH
SuperfamilyQ13203
Human Protein AtlasENSG00000133055
Peptide AtlasQ13203
HPRD01186
IPIIPI00012272   
Protein Interaction databases
DIP (DOE-UCLA)Q13203
IntAct (EBI)Q13203
FunCoupENSG00000133055
BioGRIDMYBPH
STRING (EMBL)MYBPH
ZODIACMYBPH
Ontologies - Pathways
QuickGOQ13203
Ontology : AmiGOprotein binding  regulation of striated muscle contraction  cell adhesion  structural constituent of muscle  myosin filament  
Ontology : EGO-EBIprotein binding  regulation of striated muscle contraction  cell adhesion  structural constituent of muscle  myosin filament  
NDEx NetworkMYBPH
Atlas of Cancer Signalling NetworkMYBPH
Wikipedia pathwaysMYBPH
Orthology - Evolution
OrthoDB4608
GeneTree (enSembl)ENSG00000133055
Phylogenetic Trees/Animal Genes : TreeFamMYBPH
HOVERGENQ13203
HOGENOMQ13203
Homologs : HomoloGeneMYBPH
Homology/Alignments : Family Browser (UCSC)MYBPH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYBPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYBPH
dbVarMYBPH
ClinVarMYBPH
1000_GenomesMYBPH 
Exome Variant ServerMYBPH
ExAC (Exome Aggregation Consortium)MYBPH (select the gene name)
Genetic variants : HAPMAP4608
Genomic Variants (DGV)MYBPH [DGVbeta]
DECIPHER (Syndromes)1:203136939-203144942  ENSG00000133055
CONAN: Copy Number AnalysisMYBPH 
Mutations
ICGC Data PortalMYBPH 
TCGA Data PortalMYBPH 
Broad Tumor PortalMYBPH
OASIS PortalMYBPH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYBPH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYBPH
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MYBPH
DgiDB (Drug Gene Interaction Database)MYBPH
DoCM (Curated mutations)MYBPH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYBPH (select a term)
intoGenMYBPH
Cancer3DMYBPH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160795   
Orphanet
MedgenMYBPH
Genetic Testing Registry MYBPH
NextProtQ13203 [Medical]
TSGene4608
GENETestsMYBPH
Huge Navigator MYBPH [HugePedia]
snp3D : Map Gene to Disease4608
BioCentury BCIQMYBPH
ClinGenMYBPH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4608
Chemical/Pharm GKB GenePA31352
Clinical trialMYBPH
Miscellaneous
canSAR (ICR)MYBPH (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYBPH
EVEXMYBPH
GoPubMedMYBPH
iHOPMYBPH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:34:14 CET 2017

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