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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYBPC3 Gene

protein-coding GIFtS: 67
GCID: GC11M048073

myosin binding protein C, cardiac

(Previous names: myosin-binding protein C, cardiac )
(Previous symbol: CMH4)

Explore 7 diseases affiliated with
MYBPC3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Myosin Binding Protein C, Cardiac¹ ²		C-Protein, Cardiac Muscle Isoform² ³
CMH4¹ ² ⁵		Myosin-Binding Protein C, Cardiac¹
FHC¹ ²		Myosin-Binding Protein C, Cardiac-Type²
MYBP-C¹ ²		Cardiac MyBP-C³

External Ids:	HGNC: 7551¹	Entrez Gene: 4607²	Ensembl: ENSG00000134571⁷	OMIM: 600958⁵	UniProtKB: Q14896³

Export aliases for MYBPC3 gene to outside databases

Previous GC identifers: GC11M049292 GC11M048230 GC11M047384 GC11M047317 GC11M047309 GC11M047052 GC11M047402

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene 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, Jul 2008)

UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896

Function: 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 role

Gene Wiki entry for MYBPC3 (Myosin binding protein C, cardiac)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYBPC3 gene promoter:
ER-alpha AP-1 AML1a Egr-1 NF-kappaB SREBP-1b SREBP-1a HOXA5 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYBPC3 promoter sequence

Search SABiosciences Chromatin IP Primers for MYBPC3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYBPC3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p11.2 Ensembl cytogenetic band: 11p11.2 HGNC cytogenetic band: 11p11.2

MYBPC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYBPC3 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M048073: view genomic region (about GC identifiers)

Start:	47,352,957 bp from pter	End:	47,374,253 bp from pter
Size:	21,297 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896 (See protein sequence)

Recommended Name: Myosin-binding protein C, cardiac-type

Size: 1274 amino acids; 140762 Da

6 PDB 3D structures from and Proteopedia for MYBPC3:

1GXE (3D)

1PD6 (3D)

2AVG (3D)

2K1M (3D)

2V6H (3D)

3CX2 (3D)

Secondary accessions: A5PL00 Q16410 Q6R2F7 Q9UE27 Q9UM53

Explore the universe of human proteins at neXtProt for MYBPC3: NX_Q14896

Post-translational modifications:

Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By

similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14896

MYBPC3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000247.2

ENSEMBL proteins:

ENSP00000442795 ENSP00000444259 ENSP00000382193 ENSP00000256993

Reactome Protein details: Q14896
Human Recombinant Protein Products:

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	Uscn Proteins for MYBPC3

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005863	striated muscle myosin thick filament	ISS	--
GO:0014705	C zone	NAS	15166115
GO:0030016	myofibril	--	--
GO:0030017	sarcomere	IDA	10024460

MYBPC3 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MYBPC3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MYBPC3 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR003598 Ig_sub2

IPR007110 Ig-like_dom

IPR003599 Ig_sub

IPR003961 Fibronectin_type3

IPR013098 Ig_I-set

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, Q14896

Similarity: Belongs to the immunoglobulin superfamily. MyBP family

Similarity: Contains 3 fibronectin type-III domains

Similarity: Contains 7 Ig-like C2-type (immunoglobulin-like) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896

Function: 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 role

Genatlas 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 S2

miRNA Products:		OriGene 3'-UTR Clone: MYBPC3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYBPC3
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate MYBPC3:
		hsa-miR-221* hsa-miR-3194-5p hsa-miR-137
		SwitchGear 3'UTR luciferase reporter plasmid: MYBPC3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYBPC3 (see all 7) OriGene shRNA RFP: MYBPC3 OriGene siRNA: MYBPC3
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MYBPC3

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		GenScript: all cDNA clones in your preferred vector: MYBPC3 (NM_000256)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYBPC3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYBPC3

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		Search LifeMap BioReagents cell lines for MYBPC3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPC3

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001671	ATPase activator activity	ISS	--
GO:0003779	actin binding	IEA	--
GO:0008307	structural constituent of muscle	IMP	7493025
GO:0017022	myosin binding	IDA	10024460
GO:0031432	titin binding	NAS	7493025

MYBPC3 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for MYBPC3:

Decreased viability with pacli

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for MYBPC3: Mybpc3^tm1Lcrr Mybpc3^tm1Jse Mybpc3^tm1Rmos Mybpc3^tm1.1Jse
6 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Mybpc3):

adipose tissue	behavior/neurological	cardiovascular system	growth/size	homeostasis/metabolism
muscle

MYBPC3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87

Hypertrophic cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM)

1.00

Dilated cardiomyopathy

0.75

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for MYBPC3

Striated Muscle Contraction

2 Reactome Pathways for MYBPC3

	Muscle contraction
	Striated Muscle Contraction

2 Kegg Pathways (Kegg details for MYBPC3):

	Hypertrophic cardiomyopathy (HCM)
	Dilated cardiomyopathy

MYBPC3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MYBPC3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/61 Interacting proteins for MYBPC3 (Q14896^{2, 3} ENSP00000382193⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TRIM63	Q969Q1²^,³, ENSP00000363390⁴	MINT-6503410 I2D: score=1 STRING: ENSP00000363390
TNNI3K	Q59H18³, ENSP00000359928⁴	I2D: score=3 STRING: ENSP00000359928
SMURF2	Q9HAU4²^,³, ENSP00000262435⁴	MINT-6503920 I2D: score=1 STRING: ENSP00000262435
CAPN1	P07384³, ENSP00000279247⁴	I2D: score=3 STRING: ENSP00000279247
FPGT-TNNI3K	Q59H18³	I2D: score=3

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002027	regulation of heart rate	--	--
GO:0003007	heart morphogenesis	IMP	7493025
GO:0006936	muscle contraction	--	--
GO:0006942	regulation of striated muscle contraction	ISS	--
GO:0007155	cell adhesion	IEA	--

MYBPC3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MYBPC3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MYBPC3
2 Novoseek chemical compound relationships for MYBPC3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
arginine	12.1	3	19134269 (1)
atp	0	2	18573260 (1)

Search CenterWatch for drugs/clinical trials and news about MYBPC3 / MYPC3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MYBPC3 gene:

NM_000256.3

Unigene Cluster for MYBPC3:

Myosin binding protein C, cardiac

Hs.524906 [show with all ESTs]

Unigene Representative Sequence: BC142685

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000545968(uc021qis.1) ENST00000544791(uc010rhl.2) ENST00000399249

ENST00000256993(uc021qir.1)

miRNA Products:		OriGene 3'-UTR Clone: MYBPC3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYBPC3
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate MYBPC3:
		hsa-miR-221* hsa-miR-3194-5p hsa-miR-137
		SwitchGear 3'UTR luciferase reporter plasmid: MYBPC3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYBPC3 (see all 7) OriGene shRNA RFP: MYBPC3 OriGene siRNA: MYBPC3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYBPC3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYBPC3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MYBPC3 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MYBPC3 (NM_000256)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYBPC3
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYBPC3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYBPC3

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.101964765 DT.95265060

24/77 AceView cDNA sequences (see all 77):

AJ709609 AJ708699 AJ710378 C05523 C05362 AI192890 AJ706951 AA377609

CF552841 S80778 C05630 CD607901 AU140784 CD607897 AI332327 AL600774

AL600070 C04221 AV702109 C03342 AI355388 CD607899 AJ707244 AL601188

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for MYBPC3 (see all 11) About this scheme

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:

ECgene alternative splicing isoforms for MYBPC3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MYBPC3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTCAGCAAGC

About this image

MYBPC3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Primitive Heart Tube

Primitive Heart Tube Cells

Myocardium

Ovary

Ovary

Testis

Heart

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MYBPC3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYBPC3

SOURCE GeneReport for Unigene cluster: Hs.524906

SABiosciences Custom PCR Arrays for MYBPC3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MYBPC3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYBPC3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPC3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MYBPC3 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MYBPC3¹	myosin binding protein C, cardiac	66.38(n) 69.87(a)		396013 NM_205116.1 NP_990447.1
lizard (Anolis carolinensis)	Reptilia	MYBPC3⁶	--	68(a)	1 ↔ 1	1(43904757-43984732)
African clawed frog (Xenopus laevis)	Amphibia	LOC398261²	cardiac myosin-binding protein C	76.42(n)		AF417472.1
zebrafish (Danio rerio)	Actinopterygii	mybpc3¹	myosin binding protein C, cardiac	64.03(n) 64.7(a)		556489 NM_001044349.2 NP_001037814.2
fruit fly (Drosophila melanogaster)	Insecta	CG14964⁶	--	7(a)	1 → many	3L(3172817-3178580)

ENSEMBL Gene Tree for MYBPC3 (if available)
TreeFam Gene Tree for MYBPC3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MYBPC3 gene

MYOM1² MYBPH² IGSF22² IGFN1² MYBPC2² MYBPC1² MYBPHL² MYOM3²

MYOM2²

11 SIMAP similar genes for MYBPC3 using alignment to 7 protein entries: MYPC3_HUMAN (see all proteins):

MYBPH MYBPHL MYBPC2 DKFZp779M1050 MYBPC1 DKFZp451B236

DKFZp451H115 DKFZp451M091 DKFZp451E186 MUSK MYLK

MYBPC3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs193922378^1,2	C	probable-non-pathogenic	47362723(-)	`GGCTTC/TGCCTG`	2	F	syn¹		0	--	--	--	--
rs193922382^1,2	C	probable-pathogenic	47355553(-)	`GGCCAC/TGGCTT`	2	R W	mis¹		0	--	--	--	--
rs193922380^1,2	C	probable-pathogenic	47356628(-)	`TGTTAC/GCACCA`	2	T S	mis¹		0	--	--	--	--
rs187830361^1,2	C	probable-pathogenic	47359280(+)	`CTCCCA/C/GCTGTA`	3	R G W	mis¹		0	--	--	--	--
rs36211723^1,2	C	probable-pathogenic	47360071(-)	`TCATCG/AGTGAG`	2	/N /D	mis¹		2		NA	4
rs193922377^1,2	C	probable-pathogenic	47364602(-)	`GTGGCA/GAGAAG`	2	K E	mis¹		0	--	--	--	--
rs11570052^1,2	C	unknown	47371414(-)	`CTGTGG/ATCAAG`	2	/I /V	mis¹ ese³		2		NS NA	170
rs11570050^1,2	C,F,	--	47070617(-)	`CGCCC-/CTGCCT`	1	--	int¹		3		NS NA CSA	180
rs11570123^1,2	C,F,H,	--	47352470(-)	`CCTACA/GGCATT`	1	--	ds500¹		11		NS EA	1236
rs187080477^1,2		--	47352522(+)	`GAAACC/GACTCT`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MYBPC3 (47352957 - 47374253 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MYBPC3: --
Human Gene Mutation Database (HGMD): MYBPC3

Locus Specific Mutation Databases (LSDB): MYBPC3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MYBPC3 for disorders           About GeneDecksing

OMIM gene information: 600958
OMIM disorders: 115197  115200
UniProtKB/Swiss-Prot: MYPC3_HUMAN, Q14896

Defects in MYBPC3 are the cause of familial hypertrophic cardiomyopathy 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 death

7 diseases for MYBPC3: About MalaCards

hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy cardiomyopathy cardiomyopathy, familial hypertrophic, 4

left ventricular noncompaction restrictive cardiomyopathy dilated cardiomyopathy

3 diseases from the University of Copenhagen DISEASES database for MYBPC3:

Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy Dilated cardiomyopathy

10 Novoseek disease relationships for MYBPC3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
death sudden cardiac	72.3	2	16004897 (1), 20019025 (1)
death sudden	65.4	5	18957093 (1), 16630449 (1), 15519027 (1), 18383048 (1) (see all 5)
ventricular hypertrophy	65.2	2	19356534 (1)
cardiomyopathy	63	13	19151713 (2), 17937428 (1), 18403758 (1), 12787675 (1) (see all 5)
hypertrophy	62.1	10	9800880 (1), 15519027 (1), 9475582 (1), 12860568 (1) (see all 8)
dilated cardiomyopathy	59.2	4	18957093 (2), 17224687 (1), 20201939 (1)
cardiomyopathy hypertrophic obstructive	56.3	2	19219553 (1)
cardiac hypertrophy	51.9	2	15737656 (2)
heart diseases	43.9	3	15115610 (1), 16566405 (1), 12787675 (1)
heart failure	38	8	18957093 (1), 17560599 (1), 19151713 (1), 18573260 (1)

GeneTests: MYBPC3

Familial Hypertrophic Cardiomyopathy

Dilated Cardiomyopathy

Genetic Association Database (GAD): MYBPC3
Human Genome Epidemiology (HuGE) Navigator: MYBPC3 (47 documents)

Export disorders for MYBPC3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MYBPC3 gene, integrated from 9 sources (see all 218):
(articles sorted by number of sources associating them with MYBPC3)

Utopia: connect your pdf to the dynamic
world of online information

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. (PubMed id 15519027)^{1, 2, 4, 9} Van Driest S.L.... Ackerman M.J. (2004)
Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PubMed id 15563892)^{1, 2, 4, 9} 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, 2, 4, 9} 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, 2, 4, 9} Bonne G.... Schwartz K. (1995)
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)^{1, 2, 4, 9} 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, 9} 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, 2, 9} 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, 2, 9} 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, 2, 9} 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, 2, 9} Idowu S.M.... Pfuhl M. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4607	HGNC: 7551	AceView: MYBPC3	Ensembl:ENSG00000134571	euGenes: HUgn4607
ECgene: MYBPC3	Kegg: 4607	H-InvDB: MYBPC3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MYBPC3	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYBPC3
NIEHS-SNPs	http://egp.gs.washington.edu/data/mybpc3/

Intellectual Property for MYBPC3 gene
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Patent Information for MYBPC3 gene:
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GeneCards and IP:
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myosin binding protein C, cardiac

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MYBPC3 Gene

myosin binding protein C, cardiac

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