MYBPC2 (myosin binding protein C2)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 4606
• Gene name: Myosin binding protein C2
• Gene symbol: MYBPC2
• Synonyms (NCBI Gene): MYBPC, MYBPCF, fsMyBP-C
• Chromosome: 19
• Chromosome location: 19q13.33
• 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 muscl

Gene ontology (GO) Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	23414517, 32814053
GO:0005829	Component	Cytosol	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0008307	Function	Structural constituent of muscle	IEA
GO:0008307	Function	Structural constituent of muscle	TAS	8375400
GO:0031430	Component	M band	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0045214	Process	Sarcomere organization	IBA

Other IDs

• MIM: 160793
• HGNC: 7550
• e!Ensembl: ENSG00000086967

Protein

• UniProt ID: Q14324
• Protein name: Myosin-binding protein C, fast-type (Fast MyBP-C) (C-protein, skeletal muscle fast isoform)
• Protein 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 musc
• PDB: 2E7C , 2EDK , 2EDN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00041	fn3	934 → 1017	Fibronectin type III domain	Domain
  PF00041	fn3	640 → 725	Fibronectin type III domain	Domain
  PF00041	fn3	738 → 823	Fibronectin type III domain	Domain
  PF07679	I-set	1048 → 1137	Immunoglobulin I-set domain	Domain
  PF07679	I-set	548 → 635	Immunoglobulin I-set domain	Domain
  PF07679	I-set	843 → 929	Immunoglobulin I-set domain	Domain
  PF07679	I-set	439 → 524	Immunoglobulin I-set domain	Domain
  PF07679	I-set	346 → 435	Immunoglobulin I-set domain	Domain
  PF07679	I-set	256 → 338	Immunoglobulin I-set domain	Domain
  PF07679	I-set	52 → 153	Immunoglobulin I-set domain	Domain
  PF18362	THB	213 → 246	Tri-helix bundle domain	Domain

• Sequence:

  MPEAKPAAKKAPKGKDAPKGAPKEAPPKEAPAEAPKEAPPEDQSPTAEEPTGVFLKKPDS
  VSVETGKDAVVVAKVNGKELPDKPTIKWFKGKWLELGSKSGARFSFKESHNSASNVYTVE
  LHIGKVVLGDRGYYRLEVKAKDTCDSCGFNIDVEAPRQDASGQSLESFKRTSEKKSDTAG
  ELDFSGLLKKREVVEEEKKKKKKDDDDLGIPPEIWELLKGAKKSEYEKIAFQYGITDLRG
  MLKRLKKAKVEVKKSAAFTKKLDPAYQVDRGNKIKLMVEISDPDLTLKWFKNGQEIKPSS
  KYVFENVGKKRILTINKCTLADDAAYEVAVKDEKCFTELFVKEPPVLIVTPLEDQQVFVG
  DRVEMAVEVSEEGAQVMWMKDGVELTREDSFKARYRFKKDGKRHILIFSDVVQEDRGRYQ
  VITNGGQCEAELIVEEKQLEVLQDIADLTVKASEQAVFKCEVSDEKVTGKWYKNGVEVRP
  SKRITISHVGRFHKLVIDDVRPEDEGDYTFVPDGYALSLSAKLNFLEIKVEYVPKQEPPK
  IHLDCSGKTSENAIVVVAGNKLRLDVSITGEPPPVATWLKGDEVFTTTEGRTRIEKRVDC
  SSFVIESAQREDEGRYTIKVTNPVGEDVASIFLQVVDVPDPPEAVRITSVGEDWAILVWE
  PPMYDGGKPVTGYLVERKKKGSQRWMKLNFEVFTETTYESTKMIEGILYEMRVFAVNAIG
  VSQPSMNTKPFMPIAPTSEPLHLIVEDVTDTTTTLKWRPPNRIGAGGIDGYLVEYCLEGS
  EEWVPANTEPVERCGFTVKNLPTGARILFRVVGVNIAGRSEPATLAQPVTIREIAEPPKI
  RLPRHLRQTYIRKVGEQLNLVVPFQGKPRPQVVWTKGGAPLDTSRVHVRTSDFDTVFFVR
  QAARSDSGEYELSVQIENMKDTATIRIRVVEKAGPPINVMVKEVWGTNALVEWQAPKDDG
  NSEIMGYFVQKADKKTMEWFNVYERNRHTSCTVSDLIVGNEYYFRVYTENICGLSDSPGV
  SKNTARILKTGITFKPFEYKEHDFRMAPKFLTPLIDRVVVAGYSAALNCAVRGHPKPKVV
  WMKNKMEIREDPKFLITNYQGVLTLNIRRPSPFDAGTYTCRAVNELGEALAECKLEVRVP
  Q

• Sequence length: 1141

Pathways

KEGG Pathway:

Cytoskeleton in muscle cells

Reactome Pathway:

Striated Muscle Contraction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (10)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Cervical cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYBPC2-related disorder	Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (11)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthrogryposis	Arthrogryposis	Pubtator	26752647	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22173300		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	20605413		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20605413		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	12117842		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	31075877	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	12386147		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	16256878		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	27259862		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	22173300		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	33499774	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

TMOD4 2 shared pathwaysCytoskeleton in muscle cells, Striated Muscle Contraction Related via 2 shared pathways including Cytoskeleton in muscle cells, Striated Muscle Contraction. TMOD3 2 shared pathwaysCytoskeleton in muscle cells, Striated Muscle Contraction Related via 2 shared pathways including Cytoskeleton in muscle cells, Striated Muscle Contraction. TMOD2 2 shared pathwaysCytoskeleton in muscle cells, Striated Muscle Contraction Related via 2 shared pathways including Cytoskeleton in muscle cells, Striated Muscle Contraction. MYBPC1 2 shared pathwaysCytoskeleton in muscle cells, Striated Muscle Contraction Related via 2 shared pathways including Cytoskeleton in muscle cells, Striated Muscle Contraction. NEB 2 shared pathwaysCytoskeleton in muscle cells, Striated Muscle Contraction Related via 2 shared pathways including Cytoskeleton in muscle cells, Striated Muscle Contraction.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TMOD4	0	[]	2	["Cytoskeleton in muscle cells","Striated Muscle Contraction"]	0	[]
TMOD3	0	[]	2	["Cytoskeleton in muscle cells","Striated Muscle Contraction"]	0	[]
TMOD2	0	[]	2	["Cytoskeleton in muscle cells","Striated Muscle Contraction"]	0	[]
MYBPC1	0	[]	2	["Cytoskeleton in muscle cells","Striated Muscle Contraction"]	0	[]
NEB	0	[]	2	["Cytoskeleton in muscle cells","Striated Muscle Contraction"]	0	[]

Diseases Linked via Similar Genes

Kidney disease Linked via 1 of 5 related genesTMOD4 Coronary artery disease Linked via 1 of 5 related genesTMOD4 Hypertension Linked via 1 of 5 related genesTMOD4 Myocardial infarction Linked via 1 of 5 related genesTMOD4 Stroke Linked via 1 of 5 related genesTMOD4

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Kidney disease	1	["TMOD4"]
Coronary artery disease	1	["TMOD4"]
Hypertension	1	["TMOD4"]
Myocardial infarction	1	["TMOD4"]
Stroke	1	["TMOD4"]