MYBPC2 myosin binding protein C2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYBPC2provided by HGNC
Official Full Name: myosin binding protein C2provided by HGNC
Primary source: HGNC:HGNC:7550
See related: Ensembl:ENSG00000086967 MIM:160793; AllianceGenome:HGNC:7550
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: MYBPC; MYBPCF; fsMyBP-C
Summary: 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]
Expression: Biased expression in prostate (RPKM 9.2), esophagus (RPKM 2.3) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (50432892..50466321)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (53520453..53553838)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (50936149..50969578)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.
Title: MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.
the mean methylation level of CpGs was significantly higher in MYBPC3 than MYBPC2.
Title: Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene.
The patients with a frameshift deletion mutation of MyBPC may develop LV systolic dysfunction and suffer from cardiovascular events through mid-life and beyond.
Title: A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
The distribution of MyBP-C in the A-bands of cardiac and skeletal muscles and compare this to the A-band structure in cardiac muscle of MyBP-C-deficient mice, was investigated.
Title: Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle.
Role and quaternary structure of MyBPC in skeletal muscle.
Title: Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle.
the CD-loop is a natively unfolded sequence with a likely coupling between folding and ligand binding.
Title: Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C.
Identification of interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.
Title: Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.

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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

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

D19S246 (e-PCR), detects polymorphism
- UniSTS:147760

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of muscle	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in myosin filament	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: fast MyBP-C; fast skeletal-type muscle myosin-binding-protein C; fast-type muscle myosin-binding-protein C; myosin binding protein C, fast type; testicular tissue protein Li 126

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_028026.1 RefSeqGene

Range

4990..38419

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004533.4 → NP_004524.3 myosin-binding protein C, fast-type

See identical proteins and their annotated locations for NP_004524.3

Status: REVIEWED

Source sequence(s)

AA086285, AC020909, BC130536, CF553029

Consensus CDS

CCDS46152.1

UniProtKB/Swiss-Prot

A1L4G9, Q14324

UniProtKB/TrEMBL

A0A140VJQ0

Related

ENSP00000350332.4, ENST00000357701.6

Conserved Domains (7) summary

cd00096
Location:1067 → 1132

Ig; Immunoglobulin domain

cd05748
Location:857 → 929

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

cd05894
Location:550 → 635

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

smart00410
Location:554 → 635

IG_like; Immunoglobulin like

cd00063
Location:639 → 725

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:1048 → 1137

I-set; Immunoglobulin I-set domain

cl11960
Location:283 → 330

Ig; Immunoglobulin domain