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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]
MYBPC3 (Myosin Binding Protein C3) is a Protein Coding gene. Diseases associated with MYBPC3 include Cardiomyopathy, Familial Hypertrophic, 4 and Left Ventricular Noncompaction 10. Among its related pathways are Dilated cardiomyopathy (DCM) and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of muscle. An important paralog of this gene is MYBPC2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001671 | ATPase activator activity | ISS | -- |
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 21569246 |
GO:0008307 | structural constituent of muscle | IMP | 7493025 |
GO:0017022 | myosin binding | IDA | 10024460 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005863 | striated muscle myosin thick filament | IEA,ISS | -- |
GO:0014705 | C zone | NAS | 15166115 |
GO:0030017 | sarcomere | IDA | 10024460 |
GO:0031672 | A band | IDA | 10024460 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Dilated cardiomyopathy (DCM) | ||
2 | Striated Muscle Contraction | ||
3 | Cardiac conduction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003007 | heart morphogenesis | IMP | 7493025 |
GO:0006942 | regulation of striated muscle contraction | IEA,ISS | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0030049 | muscle filament sliding | TAS | -- |
GO:0032781 | positive regulation of ATPase activity | ISS | -- |
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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||
SP2: | |||||||||||||||||||||
SP3: | |||||||||||||||||||||
SP4: | |||||||||||||||||||||
SP5: | |||||||||||||||||||||
SP6: | |||||||||||||||||||||
SP7: | |||||||||||||||||||||
SP8: | |||||||||||||||||||||
SP9: | |||||||||||||||||||||
SP10: | |||||||||||||||||||||
SP11: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYBPC3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYBPC3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MYBPC3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mybpc3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mybpc3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MYBPC3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MYBPC3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MYBPC3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MYBPC3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mybpc3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398261 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mybpc3 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4662 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
177688 | Benign: not specified | 47,349,933(-) | AGG/. | INTRON_VARIANT | |
181036 | Uncertain Significance: Hypertrophic cardiomyopathy | 47,350,052(-) | A/G | MISSENSE_VARIANT | |
181038 | Pathogenic: Hypertrophic cardiomyopathy | 47,350,035(-) | G/A | NONSENSE | |
188522 | Uncertain Significance: Hypertrophic cardiomyopathy | 47,351,343(-) | C/T | MISSENSE_VARIANT | |
188523 | Benign: not provided | 47,351,198(-) | C/G | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2672909 | CNV | deletion | 23128226 |
esv3626201 | CNV | loss | 21293372 |
nsv509404 | CNV | insertion | 20534489 |
nsv554209 | CNV | loss | 21841781 |
nsv832141 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cardiomyopathy, familial hypertrophic, 4 |
|
|
left ventricular noncompaction 10 |
|
|
hypertrophic cardiomyopathy |
|
|
left ventricular noncompaction |
|
|
cardiac conduction defect |
|