• Gene id: 1160

Gene Summary

• Gene Symbol: CKMT2   Gene   UCSC   Ensembl
• Aliases: SMTCK
• Gene name: creatine kinase, mitochondrial 2
• Alternate names: creatine kinase S-type, mitochondrial, S-MtCK, basic-type mitochondrial creatine kinase, creatine kinase, mitochondrial 2 (sarcomeric), mib-CK, sarcomeric mitochondrial creatine kinase,
• Gene location: 5q14.1 (81233319: 81266397)     Exons: 11     NC_000005.10
• Gene summary(Entrez): Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiqui
• OMIM: 123295

Protein Summary

• Protein general information: P17540  
  • Name: Creatine kinase S type, mitochondrial (EC 2.7.3.2) (Basic type mitochondrial creatine kinase) (Mib CK) (Sarcomeric mitochondrial creatine kinase) (S MtCK)
  • Length: 419  
  • Mass: 47504
  • Tissue specificity: Sarcomere-specific. Found only in heart and skeletal muscles.
• Sequence:

  MASIFSKLLTGRNASLLFATMGTSVLTTGYLLNRQKVCAEVREQPRLFPPSADYPDLRKHNNCMAECLTPAIYAK
  LRNKVTPNGYTLDQCIQTGVDNPGHPFIKTVGMVAGDEESYEVFADLFDPVIKLRHNGYDPRVMKHTTDLDASKI
  TQGQFDEHYVLSSRVRTGRSIRGLSLPPACTRAERREVENVAITALEGLKGDLAGRYYKLSEMTEQDQQRLIDDH
  FLFDKPVSPLLTCAGMARDWPDARGIWHNYDKTFLIWINEEDHTRVISMEKGGNMKRVFERFCRGLKEVERLIQE
  RGWEFMWNERLGYILTCPSNLGTGLRAGVHVRIPKLSKDPRFSKILENLRLQKRGTGGVDTAAVADVYDISNIDR
  IGRSEVELVQIVIDGVNYLVDCEKKLERGQDIKVPPPLPQFGKK

• Structural information:
  • Protein Domains: (46..13-)
    N-terminal (/note="Phosphagen-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00842-)
    (159..40-)
    C-terminal (/note="Phosphagen-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00843"-)
  • Interpro: IPR000749  IPR022415  IPR022414  IPR022413  IPR036802   IPR014746  
  • Prosite: PS00112 PS51510 PS51509
  • PDB: 4Z9M
  • PDBsum: 4Z9M
  • STRING: ENSP00000404203
• Other Databases: GeneCards:  CKMT2  Malacards:  CKMT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0004111	creatine kinase activity	IBA	molecular function
GO:0016301	kinase activity	IBA	molecular function
GO:0046314	phosphocreatine biosynthetic process	IBA	biological process
GO:0004111	creatine kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016772	transferase activity, transferring phosphorus-containing groups	IEA	molecular function
GO:0046314	phosphocreatine biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004111	creatine kinase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0004111	creatine kinase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006600	creatine metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00330	Arginine and proline metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

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