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Aliases & Descriptions for MYBPC3
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| CMH4 2, 5 | | DKFZp779E1762 2 | | FHC 1, 2 | | MYBP-C 1, 2 |
| | | Descriptions |
|---|
| C-protein, cardiac muscle isoform 3 | | Cardiac MyBP-C 3 | | myosin binding protein C, cardiac 2 | | myosin-binding protein C, cardiac 1, 2 |
|
| | Search outside databases for aliases for MYBPC3 genePrevious GC identifers: GC11M049292 GC11M048230 GC11M047384 GC11M047317 |
Summaries for MYBPC3(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for MYBPC3: MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq] UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896Function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural roleGene Wiki entry for MYBPC3 (Myosin_binding_protein_C%2C_cardiac) |
Genomic Location for MYBPC3
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the MYBPC3 gene 
Entrez Gene cytogenetic band: 11p11.2 Ensembl cytogenetic band: 11p11.2 HGNC cytogenetic band: 11p11.2MYBPC3 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 11 GeneLoc Exon Structure GeneLoc location for GC11M047309:
(about GC identifiers)
Start:
|
47,309,533 bp from pter |
End:
|
47,330,829 bp from pter |
Size:
|
21,297 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000011.8 NT_009237.17
| Proteins for MYBPC3
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896 (See
protein sequence)Recommended Name: Myosin-binding protein C, cardiac-type Size: 1273 amino acids; 140606 Da
PDB structures from and Proteopedia :1GXE (3D)
 1PD6 (3D)
 2AVG (3D)
 2K1M (3D)
 2V6H (3D)
 3CX2 (3D)
 
Secondary accessions: Q16410 Q6R2F7 Q9UE27 Q9UM53Post-translational modifications:
Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By similarity)1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000247.2
ENSEMBL proteins: ENSP00000382193 ENSP00000256993
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for MYBPC3: Assays for MYBPC3: | Protein
Domains/ Families for MYBPC3(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q14896
ProtoNet protein and cluster: Q14896 4 Blocks protein families: IPB003598 Immunoglobulin C-2 type IPB003962 Fibronectin type III repeat signature IPB013098 Immunoglobulin I-set IPB013106 Immunoglobulin V-set
UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896Similarity: Belongs to the immunoglobulin superfamily. MyBP familySimilarity: Contains 3 fibronectin type-III domainsSimilarity: Contains 7 Ig-like C2-type (immunoglobulin-like) domains | Gene Function for MYBPC3
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000256
Applied Biosystems Silencer® siRNAs for MYBPC3
Sigma-Aldrich siRNA for MYBPC3  Sigma-Aldrich shRNA for MYBPC3  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000256                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000256                                  untagged cDNA clone in CMV expression vector: NM_000256 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000256
UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896Function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural roleGenatlas biochemistry entry for MYBPC3:myosin and titin binding protein C3,expressed in the A band of sarcomeres,including two isoforms cardiac and fast skeletal muscle,interacting with beta myosin S22 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Mybpc3):
5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): About this table | Pathways & Interactions for MYBPC3
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for MYBPC3 
5/42 Interacting proteins for MYBPC3 (Q148962 ENSP000002569933) via UniProtKB, MINT, and/or STRING (see all 42
)About this table
5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
): About this table
|
Drugs & Compounds for MYBPC3(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 MYBPC3 1 Novoseek chemical compound relationship for MYBPC3 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| atp |
0.00 |
2 |
18573260 (1) |
About this table
|
Transcripts for MYBPC3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
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 Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000256
Sigma-Aldrich siRNA for MYBPC3  Sigma-Aldrich shRNA for MYBPC3  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000256 REFSEQ mRNAs for MYBPC3 gene: NM_000256.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000256               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000256                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000256                                  untagged cDNA clone in CMV expression vector: NM_000256  Additional cDNA sequence: AK291569.1 AK297843.1 BC136543.1 BC136546.1 BC142685.1 BC151211.1 EF560722.1 EU747718.1 EU747719.1 S80778.1 3 DOTS entries: DT.114602 DT.95265060 DT.101964765 24/77 AceView cDNA sequences (see all 77
):AA377609 AI332327 AL600070 C05523 C05630 AI192890 AJ706951 CD607897 C05362 AJ710378 CF552841 CD607901 AJ708699 AL600774 AJ709609 S80778 AU140784 AA427605 AI218137 C03342 AJ707244 C04273 CF552219 AL601194
highest scoring ESTs for MYBPC3:AU140784 BX502955 BX502961 BX502964 AA091776 AA094747 AA247545 AA247619 AA248782 AA249307 Unigene Cluster for MYBPC3: Myosin binding protein C, cardiac Hs.524906 [show with all ESTs]Unigene Representative Sequence: BC142685
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for MYBPC3 (see all 11
)
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for MYBPC3
2 Ensembl transcripts including schematic representations: ENST00000399249
ENST00000256993
|
Expression for MYBPC3
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| MYBPC3 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for MYBPC3
1 / 2 / 3 5 probe-sets matching MYBPC3 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTCAGCAAGC
SOURCE GeneReport for Unigene cluster: Hs.524906
Expression variation in blood from EXPOLDB for MYBPC3 |
Orthologs for MYBPC3
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for MYBPC3 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for MYBPC3
ENSEMBL Gene Tree for MYBPC3 | Paralogs for MYBPC3(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for MYBPC3 gene
- MYBPC22 MYBPC12
|
SNPs/Variants for MYBPC3(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for MYBPC3 (up to first 250kb)
|
Disorders & Mutations for MYBPC3
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 600958 disorders: 115197 115200 UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896
Defects in MYBPC3 are the cause of cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death10 Novoseek disease relationships for MYBPC3 gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| death sudden cardiac |
67.29 |
1 |
16004897 (1) |
| ventricular hypertrophy |
66.97 |
2 |
19356534 (1) |
| death sudden |
64.20 |
4 |
16630449 (1), 18957093 (1), 15519027 (1), 18383048 (1) |
| cardiomyopathy |
62.27 |
13 |
19151713 (2), 17937428 (1), 18403758 (1), 12787675 (1) (see all 5) |
| hypertrophy |
60.07 |
9 |
9800880 (1), 15519027 (1), 9475582 (1), 12860568 (1) (see all 7) |
| cardiomyopathy hypertrophic obstructive |
54.22 |
2 |
19219553 (1) |
| cardiac hypertrophy |
53.03 |
2 |
15737656 (2) |
| dilated cardiomyopathy |
49.94 |
3 |
18957093 (2), 17224687 (1) |
| heart diseases |
42.41 |
3 |
15115610 (1), 16566405 (1), 12787675 (1) |
| heart failure |
37.17 |
8 |
18957093 (1), 17560599 (1), 19151713 (1), 18573260 (1) |
About this table
GeneTests: MYBPC3 Dilated Cardiomyopathy Human Gene Mutation Database: MYBPC3 Genetic Association Database: MYBPC3 Human Genome Epidemiology Navigator: MYBPC3 (22 documents)
|
Medical News for MYBPC3(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for MYBPC3 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/149 PubMed articles for MYBPC3 gene (see all 149
):- Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. (PubMed id 15519027)1, 3, 4, 6 Van Driest S.L.... Ackerman M.J. (2004)
- Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PubMed id 15563892)1, 3, 4, 6 Song L.... Hui R. (2005)
- The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. (PubMed id 14563344)1, 3, 4, 6 Alders M.... Mannens M. (2003)
- Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. (PubMed id 7493026)1, 3, 4, 6 Bonne G.... Schwartz K. (1995)
- Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)1, 3, 4, 6 Ingles J.... Semsarian C. (2005)
- Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? (PubMed id 7744002)1, 2, 3, 4 Gautel M.... Labeit S. (1995)
- Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. (PubMed id 9048664)1, 3, 4 Carrier L....Schwartz K. (1997)
- Spectrum of clinical phenotypes and gene variants in cardiac myosin- binding protein C mutation carriers with hypertrophic cardiomyopathy. (PubMed id 11499719)1, 3, 4 Erdmann J.... Regitz-Zagrosek V. (2001)
- Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. (PubMed id 9541104)1, 3, 4 Yu B....Trent R.J. (1998)
- Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy. (PubMed id 12787675)1, 3, 4 Idowu S.M.... Pfuhl M. (2003)
|
Search for MYBPC3
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing MYBPC3
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing MYBPC3
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MYBPC3(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
|
| Name | Description |
| Familial hypertrophic cardiomyopathy mutation database | http://www.angis.org.au/Databases/Heart/heartbreak.html | | GeneReviews | http://www.genetests.org/query?gene=MYBPC3 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/mybpc3/ |
|
| | | About This Section
| --
| Services for MYBPC3(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for MYBPC3:

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Incremental update: 13 Oct 2009
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