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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYBPC2 Gene

protein-coding GIFtS: 59
GCID: GC19P050936

myosin binding protein C, fast type

(Previous names: myosin-binding protein C, fast-type )

Explore 6 diseases affiliated with
MYBPC2 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, Fast Type¹ ²		Fast MyBP-C² ³
MYBPCF¹ ² ³ ⁵		C-Protein, Skeletal Muscle Fast Isoform² ³
MYBPC¹ ²		MGC163408¹
Myosin-Binding Protein C, Fast-Type¹ ²		Fast-Type Muscle Myosin-Binding-Protein C²

External Ids:	HGNC: 7550¹	Entrez Gene: 4606²	Ensembl: ENSG00000086967⁷	OMIM: 160793⁵	UniProtKB: Q14324³

Export aliases for MYBPC2 gene to outside databases

Previous GC identifers: GC19P051565 GC19P051297 GC19P055612 GC19P055628 GC19P047274

(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 MYBPC2:

This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and

cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region)

of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in

the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal

arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. (provided by RefSeq, Jul 2012)

UniProtKB/Swiss-Prot: MYPC2_HUMAN, Q14324

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

(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_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYBPC2 gene promoter:
GR STAT1 STAT4 STAT1beta STAT5A STAT1alpha STAT2 STAT3 GR-alpha NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYBPC2 promoter sequence

Search SABiosciences Chromatin IP Primers for MYBPC2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYBPC2

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

Entrez Gene cytogenetic band: 19q13.33 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.33

MYBPC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYBPC2 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P050936: view genomic region (about GC identifiers)

Start:	50,936,160 bp from pter	End:	50,969,583 bp from pter
Size:	33,424 bases	Orientation:	plus 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: MYPC2_HUMAN, Q14324 (See protein sequence)

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

Size: 1141 amino acids; 128072 Da

3 PDB 3D structures from and Proteopedia for MYBPC2:

2E7C (3D)

2EDK (3D)

2EDN (3D)

Secondary accessions: A1L4G9

Explore the universe of human proteins at neXtProt for MYBPC2: NX_Q14324

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14324

MYBPC2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004524.3

ENSEMBL proteins:

ENSP00000350332

Reactome Protein details: Q14324
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	Uscn Proteins for MYBPC2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0032982	myosin filament	IEA	--

MYBPC2 for ontologies About GeneDecksing

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

MYBPC2 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 Q14324

ProtoNet protein and cluster: Q14324

3 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB003962 Fibronectin type III repeat signature

IPB013098 Immunoglobulin I-set

UniProtKB/Swiss-Prot: MYPC2_HUMAN, Q14324

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: MYPC2_HUMAN, Q14324

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 MYBPC2:

myosin,and titin binding protein C,skeletal muscle,fast type,expressed in the A band of sarcomeres

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In Situ Assay
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0008307	structural constituent of muscle	TAS	8375400

MYBPC2 for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for MYBPC2:

Decreased POU5F1-GFP protein e

Decreased viability with pacli

Increased G1 DNA content

Increased gamma-H2AX phosphory

(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

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for MYBPC2

Striated Muscle Contraction

2 Reactome Pathways for MYBPC2

	Muscle contraction
	Striated Muscle Contraction

MYBPC2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MYBPC2

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

5/44 Interacting proteins for MYBPC2 (Q14324^{1, 2, 3} ENSP00000350332⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYBPH	Q13203³, ENSP00000255416⁴	I2D: score=1 STRING: ENSP00000255416
MYBPC1	Q00872¹, ENSP00000354849⁴	EBI-5653200,EBI-5652924 STRING: ENSP00000354849
GRB2	P62993³	I2D: score=1
MYBPC2	Q14324²	MINT-6174859
TTN	Q8WZ42¹	EBI-5653200,EBI-3448943

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006936	muscle contraction	--	--
GO:0007155	cell adhesion	IEA	--
GO:0030049	muscle filament sliding	TAS	--

MYBPC2 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MYBPC2
Search CenterWatch for drugs/clinical trials and news about MYBPC2 / MYPC2

(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 MYBPC2 gene:

NM_004533.3

Unigene Cluster for MYBPC2:

Myosin binding protein C, fast type

Hs.85937 [show with all ESTs]

Unigene Representative Sequence: NM_004533

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000357701(uc002psf.2)

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Additional cDNA sequence:

BC129943.1 BC130536.1 BC136389.1 X73113.1

3 DOTS entries:

DT.312957 DT.100725233 DT.313765

24/59 AceView cDNA sequences (see all 59):

AA211733 F19240 AA192949 AL601688 CF553029 CF552888 CF552200 AA102252

AJ573959 BV198402 AA583218 BV198399 CF553013 AA112833 AJ346447 BE797212

AA086395 X73113 F32359 AA194784 F29836 AA586464 BX283568 BV198401

GeneLoc Exon Structure

(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

MYBPC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTTCCGGAT

About this image

MYBPC2 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MYBPC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYBPC2

SOURCE GeneReport for Unigene cluster: Hs.85937

SABiosciences Custom PCR Arrays for MYBPC2

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In Situ
Assay Products:

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(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 MYBPC2 gene from 5/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mybpc2^{1 , 5}	myosin binding protein C, fast-type^{1, 5}	85.74(n)¹ 92.52(a)¹		7 (28.83 cM)⁵ 233199¹ NM_146189.3¹ NP_666301.2¹ 44501699⁵
chicken (Gallus gallus)	Aves	MYBPC2¹	myosin binding protein C, fast type	70.91(n) 71.24(a)		425457 NM_001044659.1 NP_001038124.1
lizard (Anolis carolinensis)	Reptilia	MYBPC2⁶	--	77(a)	1 ↔ 1	6(79590184-79616682)
zebrafish (Danio rerio)	Actinopterygii	mybpc2a¹	myosin binding protein C, fast type a	64.11(n) 63.63(a)		751793 NM_001045859.1 NP_001039324.1
fruit fly (Drosophila melanogaster)	Insecta	CG14964⁶	--	8(a)	1 → many	3L(3172817-3178580)

ENSEMBL Gene Tree for MYBPC2 (if available)
TreeFam Gene Tree for MYBPC2 (if available)

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

Paralogs for MYBPC2 gene

MYOM1² MYBPH² IGSF22² IGFN1² MYBPC1² MYBPC3² MYBPHL² MYOM3²

MYOM2²

11 SIMAP similar genes for MYBPC2 using alignment to 1 protein entry: MYPC2_HUMAN:

MYBPH DKFZp779M1050 MYBPHL DKFZp451B236 DKFZp451H115 MYBPC1

DKFZp451M091 MYBPC3 DKFZp451E186 TTN MUSK

MYBPC2 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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190344184^1,2		--	50934259(+)	`AAGCTA/GTCATT`	5	--	ut3¹ us2k¹		0	--	--	--	--
rs118177825^1,2		--	50934748(+)	`AAACCT/CATCTG`	5	--	us2k¹ ds500¹		1		EA	120
rs116593415^1,2		--	50934810(+)	`GTTTAT/CGTCTT`	5	--	ds500¹ us2k¹		1		WA	118
rs182890788^1,2		--	50934840(+)	`AAGTTC/TTCCAC`	1	--	us2k¹		0	--	--	--	--
rs3810276^1,2	C,F,H,	--	50934939(+)	`AGGTGG/ACCGCG`	1	--	us2k¹		19		EA NS NA WA	3638
rs10426048^1,2	C,F,A,H,	--	50934972(+)	`CCCAAC/TTTAGC`	1	--	us2k¹		6		NS EA WA	512
rs3810277^1,2	C,F,H,	--	50934978(+)	`TTAGCG/TGGGCT`	1	--	us2k¹		8		NS EA NA	616
rs147990886^1,2		--	50934999(+)	`CAGTGA/GCAGTC`	1	--	us2k¹		0	--	--	--	--
rs141923913^1,2		--	50935089(+)	`CGTAGC/GGGGTT`	1	--	us2k¹		0	--	--	--	--
rs117728981^1,2		--	50935207(+)	`TTAACC/TCTAAG`	1	--	us2k¹		1		NA	120

HapMap Linkage Disequilibrium report for MYBPC2 (50936160 - 50969583 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MYBPC2
1 Indel: 40288
Human Gene Mutation Database (HGMD): MYBPC2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MYBPC2

DNA2.0 Custom Variant and Variant Library Synthesis for MYBPC2

(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

MYBPC2 for disorders           About GeneDecksing

OMIM gene information: 160793    OMIM disorders: --

6 diseases for MYBPC2:    About MalaCards

hypertrophic cardiomyopathy cardiomyopathy distal arthrogryposis familial hypertrophic cardiomyopathy

arthrogryposis dilated cardiomyopathy

3 diseases from the University of Copenhagen DISEASES database for MYBPC2:

Familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy

1 Novoseek disease relationship for MYBPC2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hypertrophy	2.78	1	11273720 (1)

Human Genome Epidemiology (HuGE) Navigator: MYBPC2 (3 documents)

Export disorders for MYBPC2 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 MYBPC2 gene, integrated from 9 sources (see all 64):
(articles sorted by number of sources associating them with MYBPC2)

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

Complete sequence of human fast-type and slow-type muscle myosin- binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. (PubMed id 8375400)^{1, 2, 3, 9} Weber F.E.... Fischman D.A. (1993)
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, 9} Welikson R.E. and Fischman D.A. (2002)
Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain. (PubMed id 9252413)^{1, 9} Alyonycheva T.N....Fischman D.A. (1997)
Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene. (PubMed id 20740642)¹ Meurs K.M. and Kuan M. (2011)
Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)¹ Emanuele M.J....Elledge S.J. (2011)
A frameshift deletion mutation in the cardiac myosin- binding protein C gene associated with dilated phase of hypertrophic cardiomyop athy and dilated cardiomyopathy. (PubMed id 20605413)¹ Hitomi N....Doi Y.L. (2010)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C. (PubMed id 17876814)¹ Guardiani C....Livi R. (2008)
Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle. (PubMed id 18201573)¹ Flashman E....Moolman-Smook J.C. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4606	HGNC: 7550	AceView: MYBPC2	Ensembl:ENSG00000086967	euGenes: HUgn4606
ECgene: MYBPC2	H-InvDB: MYBPC2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MYBPC2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MYBPC2 gene
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Patent Information for MYBPC2 gene:
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MYBPC2 Gene

myosin binding protein C, fast type

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MYBPC2 Gene

myosin binding protein C, fast type

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