MYBPC3 myosin binding protein C3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYBPC3provided by HGNC
Official Full Name: myosin binding protein C3provided by HGNC
Primary source: HGNC:HGNC:7551
See related: Ensembl:ENSG00000134571 MIM:600958; AllianceGenome:HGNC:7551
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FHC; CMH4; CMD1MM; LVNC10; MYBP-C; cMyBP-C
Summary: 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 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]
Expression: Restricted expression toward heart (RPKM 426.0) See more
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (47331406..47352702, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (47488226..47509533, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (47352957..47374253, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.
Title: Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.
A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans.
Title: A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans.
Nonsense mediated decay factor UPF3B is associated with cMyBP-C haploinsufficiency in hypertrophic cardiomyopathy patients.
Title: Nonsense mediated decay factor UPF3B is associated with cMyBP-C haploinsufficiency in hypertrophic cardiomyopathy patients.
[Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7].
Title: [Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7].
An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy.
Title: An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy.
Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy.
Title: Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy.
Identification of Variants and Mutational Analyses of Cardiac Myosin-binding Protein C (MYBPC3) Gene of Adult Bangladeshi Patients with Hypertrophic Cardiomyopathy.
Title: Identification of Variants and Mutational Analyses of Cardiac Myosin-binding Protein C (MYBPC3) Gene of Adult Bangladeshi Patients with Hypertrophic Cardiomyopathy.
Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain.
Title: Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain.
[No Effect of the p.Arg230His Variant Of The VCL Protein on the Course of the Hypertrophic Cardiomyopathy In Russian Family Carrying The p.Gln1233Ter Pathogenic Variant In The MYBPC3 Gene].
Title: [No Effect of the p.Arg230His Variant Of The VCL Protein on the Course of the Hypertrophic Cardiomyopathy In Russian Family Carrying The p.Gln1233Ter Pathogenic Variant In The MYBPC3 Gene].
Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?
Title: Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?

Submit: New GeneRIF Correction See all GeneRIFs (202)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYBPC3 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Hypertrophic cardiomyopathy 4 MedGen: C1861862 OMIM: 115197 GeneReviews: Hypertrophic Cardiomyopathy Overview	Compare labs
Left ventricular noncompaction 10 MedGen: C3715165 OMIM: 615396 GeneReviews: Not available	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-01-10) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-10) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC181559P1 (e-PCR)
- UniSTS:271674

MYBPC3 (e-PCR)
- UniSTS:73382

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin binding	IDA Inferred from Direct Assay more info	PubMed
enables myosin heavy chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin heavy chain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed
enables titin binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ATP-dependent activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of muscle filament sliding	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of striated muscle contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular cardiac muscle tissue morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in A band	IDA Inferred from Direct Assay more info	PubMed
located_in C zone	NAS Non-traceable Author Statement more info	PubMed
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in cardiac myofibril	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in sarcomere	IDA Inferred from Direct Assay more info	PubMed
located_in striated muscle myosin thick filament	IDA Inferred from Direct Assay more info	PubMed
located_in striated muscle myosin thick filament	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: myosin-binding protein C, cardiac-type

Names: myosin binding protein C, cardiac

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007667.1 RefSeqGene

Range

5001..26297

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_386

mRNA and Protein(s)

NM_000256.3 → NP_000247.2 myosin-binding protein C, cardiac-type

See identical proteins and their annotated locations for NP_000247.2

Status: REVIEWED

Source sequence(s)

AJ708511, AJ708699, AL691822, AU140784, DA563514, EF560722

Consensus CDS

CCDS53621.1

UniProtKB/Swiss-Prot

A5PL00, Q14896, Q16410, Q6R2F7, Q9UE27, Q9UM53

UniProtKB/TrEMBL

B6D425

Related

ENSP00000442795.1, ENST00000545968.6

Conserved Domains (9) summary

cd05748
Location:990 → 1062

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins

cd05894
Location:655 → 768

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00408
Location:1200 → 1257

IGc2; Immunoglobulin C-2 Type

smart00409
Location:161 → 256

IG; Immunoglobulin

smart00410
Location:981 → 1062

IG_like; Immunoglobulin like

cd00063
Location:772 → 862

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1181 → 1270

I-set; Immunoglobulin I-set domain

pfam00047
Location:161 → 245

ig; Immunoglobulin domain

cl11960
Location:15 → 89

Ig; Immunoglobulin domain