• Gene id: 4606

Gene Summary

• Gene Symbol: MYBPC2   Gene   UCSC   Ensembl
• Aliases: MYBPC, MYBPCF, fsMyBP-C
• Gene name: myosin binding protein C2
• Alternate names: myosin-binding protein C, fast-type, C-protein, skeletal muscle fast isoform, 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,
• Gene location: 19q13.33 (50432891: 50466320)     Exons: 28     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 160793

Protein Summary

• Protein general information: Q14324  
  • Name: Myosin binding protein C, fast type (Fast MyBP C) (C protein, skeletal muscle fast isoform)
  • Length: 1141  
  • Mass: 128072
• Sequence:

  MPEAKPAAKKAPKGKDAPKGAPKEAPPKEAPAEAPKEAPPEDQSPTAEEPTGVFLKKPDSVSVETGKDAVVVAKV
  NGKELPDKPTIKWFKGKWLELGSKSGARFSFKESHNSASNVYTVELHIGKVVLGDRGYYRLEVKAKDTCDSCGFN
  IDVEAPRQDASGQSLESFKRTSEKKSDTAGELDFSGLLKKREVVEEEKKKKKKDDDDLGIPPEIWELLKGAKKSE
  YEKIAFQYGITDLRGMLKRLKKAKVEVKKSAAFTKKLDPAYQVDRGNKIKLMVEISDPDLTLKWFKNGQEIKPSS
  KYVFENVGKKRILTINKCTLADDAAYEVAVKDEKCFTELFVKEPPVLIVTPLEDQQVFVGDRVEMAVEVSEEGAQ
  VMWMKDGVELTREDSFKARYRFKKDGKRHILIFSDVVQEDRGRYQVITNGGQCEAELIVEEKQLEVLQDIADLTV
  KASEQAVFKCEVSDEKVTGKWYKNGVEVRPSKRITISHVGRFHKLVIDDVRPEDEGDYTFVPDGYALSLSAKLNF
  LEIKVEYVPKQEPPKIHLDCSGKTSENAIVVVAGNKLRLDVSITGEPPPVATWLKGDEVFTTTEGRTRIEKRVDC
  SSFVIESAQREDEGRYTIKVTNPVGEDVASIFLQVVDVPDPPEAVRITSVGEDWAILVWEPPMYDGGKPVTGYLV
  ERKKKGSQRWMKLNFEVFTETTYESTKMIEGILYEMRVFAVNAIGVSQPSMNTKPFMPIAPTSEPLHLIVEDVTD
  TTTTLKWRPPNRIGAGGIDGYLVEYCLEGSEEWVPANTEPVERCGFTVKNLPTGARILFRVVGVNIAGRSEPATL
  AQPVTIREIAEPPKIRLPRHLRQTYIRKVGEQLNLVVPFQGKPRPQVVWTKGGAPLDTSRVHVRTSDFDTVFFVR
  QAARSDSGEYELSVQIENMKDTATIRIRVVEKAGPPINVMVKEVWGTNALVEWQAPKDDGNSEIMGYFVQKADKK
  TMEWFNVYERNRHTSCTVSDLIVGNEYYFRVYTENICGLSDSPGVSKNTARILKTGITFKPFEYKEHDFRMAPKF
  LTPLIDRVVVAGYSAALNCAVRGHPKPKVVWMKNKMEIREDPKFLITNYQGVLTLNIRRPSPFDAGTYTCRAVNE
  LGEALAECKLEVRVPQ

• Structural information:
  • Protein Domains: (50..15-)
    1 (/note="Ig-like-C2-type)
    (255..34-)
    2 (/note="Ig-like-C2-type)
    (345..43-)
    3 (/note="Ig-like-C2-type)
    (438..53-)
    4 (/note="Ig-like-C2-type)
    (539..63-)
    5 (/note="Ig-like-C2-type)
    (641..73-)
    (/note="Fibron-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR040849  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 2E7C 2EDK 2EDN
  • PDBsum: 2E7C 2EDK 2EDN
  • STRING: ENSP00000350332
• Other Databases: GeneCards:  MYBPC2  Malacards:  MYBPC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0032982	myosin filament	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006936	muscle contraction	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray