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Aliases & Descriptionsfor MYBPH gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions myosin binding protein H1 2 myosin-binding protein H1 2 H-protein2 3 myBP-H2 MyBP-H3
Export aliases for MYBPH gene to outside databases Previous GC identifers: GC01M200820 GC01M198566 GC01M199603 GC01M200425 GC01M199868 GC01M201403 GC01M203136
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Summariesfor MYBPH gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203 Function : Binds to myosin; probably involved in interaction with thick myofilaments in the A-band
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Genomic Viewsfor MYBPH gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MYBPH gene promoter: AP-1 c-Fos c-Jun ATF E4BP4 c-Rel RFX1 SREBP-1a SRF SREBP-1b Other transcription factors Search SABiosciences Chromatin IP Primers for MYBPH Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1q32.1 Ensembl cytogenetic band: 1q32.1 HGNC cytogenetic band: 1q32.1 MYBPH Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M174302: view genomic region
(about GC identifiers )
Start:
174,302,068 bp from pter
End:
174,310,071 bp from pter
Size:
8,004 bases
Orientation:
minus strand
1 alternative location : Chr 1- 203,136,939-203,144,941
RefSeq DNA sequence: NC_000001.10 NT_004487.19
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Proteinsfor MYBPH gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203 (See
protein sequence )Recommended Name: Myosin-binding protein H Size : 477 amino acids; 52050 Da
Secondary accessions : Q16886 Q86YC5Explore the universe of human proteins at neXtProt for MYBPH: NX_Q13203
REFSEQ proteins: NP_004988.2 ENSEMBL proteins: ENSP00000255416 Human Recombinant Proteins 1 Gene Ontology (GO) cellular component term (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0032982 myosin filament
IEA --
About this table
MYBPH for ontologies About GeneDecksing Antibodies for MYBPH: Assays for MYBPH:
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Protein
Domains/ Familiesfor MYBPH gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
MYBPH for domains About GeneDecksing 5/7 InterPro domains/families (see all 7 ):
Graphical View of Domain Structure for InterPro Entry Q13203 ProtoNet protein and cluster: Q13203
3 Blocks protein families : IPB003598 Immunoglobulin C-2 type IPB003962 Fibronectin type III repeat signature IPB013098 Immunoglobulin I-set UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203 Similarity : Belongs to the immunoglobulin superfamily. MyBP familySimilarity : Contains 2 fibronectin type-III domainsSimilarity : Contains 2 Ig-like C2-type (immunoglobulin-like) domains
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Gene Functionfor MYBPH gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203 Function : Binds to myosin; probably involved in interaction with thick myofilaments in the A-band
Genatlas biochemistry entry for MYBPH :myosin binding protein H 2 Gene Ontology (GO) molecular function terms (GO ID links to tree view) :
About this table
MYBPH for ontologies About GeneDecksing
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Pathways & Interactionsfor MYBPH gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section SABiosciences Custom Pathway-Focused PCR Arrays for MYBPH SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYBPH 2 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
About this table
MYBPH for ontologies About GeneDecksing
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Drugs & Compoundsfor MYBPH gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section Browse Tocris compounds for MYBPH
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Transcriptsfor MYBPH gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for MYBPH gene: NM_004997.2
Additional cDNA sequence: BC044226.1 L05606.1
3 DOTS entries : DT.440979 DT.213277 DT.86852212
24/30 AceView cDNA sequences (see all 30 ):
BX281879 BM711318 BQ922099 AA460489 AI368147 AI143255 BF338896 BC044226 NM_004997 BM665885 L05606 BE857008 BP432087 BE876681 AA453125 BQ435439 AI351314 AA779449 AA971239 AA533198 AA993089 AI038319 AI374876 AA461058
highest scoring ESTs for MYBPH :BC044226 BE876681 BQ435439 BQ922099 L05606 AA453125 AA460489 AA461058 AA533198 AA779449 Unigene Cluster for MYBPH:
Myosin binding protein H Hs.927 [show with all ESTs ] Unigene Representative Sequence: BC044226 GeneLoc Exon Structure 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000255416 (uc001gzh.1 )
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Expression for MYBPH gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section MYBPH expression in normal and diseased human tissues 1 / 2 / 3
1 probe-set matching MYBPH gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
41017_at2 , 3
U95-A
1
0.50
1.00
1.00
1.00
U27266
0.20
1.00
0.72
1
About this table
MYBPH for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTGCAGAAGG SOURCE GeneReport for Unigene cluster: Hs.927 Expression variation in blood from EXPOLDB for MYBPH
UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203 Tissue specificity : Skeletal muscle
SABiosciences Custom PCR Arrays for MYBPH
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Orthologsfor MYBPH gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for MYBPH gene from 5/7 species (see all 7 )
About this table Species with no ortholog for MYBPH ENSEMBL Gene Tree for MYBPH (if available)
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Paralogsfor MYBPH gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for MYBPH gene MYBPHL 2 MYBPC3 2 MYBPC2 2 MYBPC1 2
MYBPH for paralogs About GeneDecksing
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Genomic Variantsfor MYBPH gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 1 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for MYBPH (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for MYBPH: --
QIAGEN SeqTarget long-range PCR primers for resequencing MYBPH
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Disorders & Mutationsfor MYBPH gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
MYBPH for disorders About GeneDecksing
OMIM: 160795 2 Novoseek disease relationships for MYBPH gene
About this table 1 PharmGKB disease relationship for MYBPH gene About this table Human Genome Epidemiology (HuGE) Navigator: MYBPH (1 document)Export disorders and mutations for MYBPH gene to outside databases
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Medical Newsfor MYBPH gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor MYBPH gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/26 PubMed articles for MYBPH gene, integrated from 7 sources (see all 26 ): (articles sorted by number of sources associating them with MYBPH) Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization. (PubMed id 8486381) 1 , 2 , 3, 7 Vaughan K.T....Fischman D.A. (1993) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. (PubMed id 10024460) 1 , 7 Gruen M. and Gautel M. (1999) Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175) 1 Ehret G.B....Chakravarti A. (2009) The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells. (PubMed id 12154082) 1 Welikson R.E. and Fischman D.A. (2002) Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. (PubMed id 12086872) 5 Yeoh E.J....Downing J.R. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002) Nucleotide and deduced amino acid sequences of rat myosin binding protein H (MyBP-H). (PubMed id 9868543) 7 Jung J....Lee K. (1998) Identification of the A-band localization domain of myosin binding proteins C and H (MyBP-C, MyBP-H) in skeletal muscle. (PubMed id 9841905) 7 Gilbert R....Fischman D.A. (1999) Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse. (PubMed id 16579921) 7 Hundley A.F....Visco A.G. (2006)
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External Searches for MYBPH gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing MYBPH gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing MYBPH gene
(According to HUGE )
About This Section --
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Specialized Databases showing MYBPH gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for MYBPH gene: Search GeneIP for patents involving MYBPH GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor MYBPH gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for MYBPH
ELISAs and CLIAs for MYBPH
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