MYBPC3

GENERAL INFORMATION

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Gene name

MYBPC3

Gene description

Myosin binding protein C, cardiac

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (heart muscle)
GTEx:Group enriched (heart muscle)

Protein evidence

Evidence at protein level

Protein localization

Highly selective cytoplasmic expression in heart myocytes.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA040147 , HPA043898
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (heart muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (heart muscle)

Organ

Expression



GENE INFORMATION

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Gene name

MYBPC3 (HGNC Symbol)

Synonyms

CMH4, FHC, MYBP-C

Description

Myosin binding protein C, cardiac (HGNC Symbol)

Entrez gene 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, 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]

Chromosome

11

Cytoband

p11.2

Chromosome location (bp)

47331397 - 47352702

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134571 (version 78.38)

Entrez gene

4607

UniProt

Q14896 (UniProt - Evidence at protein level)

neXtProt

NX_Q14896

Antibodypedia

MYBPC3 antibodies


PROTEIN BROWSER

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ENST00000256993
 
ENST00000399249
 
ENST00000545968
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MYBPC3-001 ENSP00000442795
ENST00000545968
Q14896
Show all »
Show » Show » 1274 140.8 No 0
MYBPC3-201 ENSP00000256993
ENST00000256993
D3DQR5
Show all »
Show » Show » 1274 140.7 No 0
MYBPC3-202 ENSP00000382193
ENST00000399249
A8MXZ9
Show all »
Show » Show » 1274 140.7 No 0