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Aliases for CKMT2 Gene

Aliases for CKMT2 Gene

  • Creatine Kinase, Mitochondrial 2 2 3 5
  • Creatine Kinase, Mitochondrial 2 (Sarcomeric) 2 3
  • Basic-Type Mitochondrial Creatine Kinase 3 4
  • Sarcomeric Mitochondrial Creatine Kinase 3 4
  • EC 2.7.3.2 4 63
  • Mib-CK 3 4
  • S-MtCK 3 4
  • EC 2.7.3 63
  • SMTCK 3

External Ids for CKMT2 Gene

Previous GeneCards Identifiers for CKMT2 Gene

  • GC05P079351
  • GC05P080767
  • GC05P080567
  • GC05P080613
  • GC05P080564
  • GC05P075738
  • GC05P080530

Summaries for CKMT2 Gene

Entrez Gene Summary for CKMT2 Gene

  • 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 ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CKMT2 Gene

CKMT2 (Creatine Kinase, Mitochondrial 2) is a Protein Coding gene. Diseases associated with CKMT2 include prostate rhabdomyosarcoma and dressler's syndrome. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and creatine kinase activity. An important paralog of this gene is CKMT1B.

UniProtKB/Swiss-Prot for CKMT2 Gene

  • Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.

Gene Wiki entry for CKMT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CKMT2 Gene

Genomics for CKMT2 Gene

Regulatory Elements for CKMT2 Gene

Promoters for CKMT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CKMT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CKMT2 Gene

Chromosome:
5
Start:
81,233,285 bp from pter
End:
81,266,398 bp from pter
Size:
33,114 bases
Orientation:
Plus strand

Genomic View for CKMT2 Gene

Genes around CKMT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CKMT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CKMT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CKMT2 Gene

Proteins for CKMT2 Gene

  • Protein details for CKMT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17540-KCRS_HUMAN
    Recommended name:
    Creatine kinase S-type, mitochondrial
    Protein Accession:
    P17540
    Secondary Accessions:
    • Q6ICS8
    • Q8N1E1

    Protein attributes for CKMT2 Gene

    Size:
    419 amino acids
    Molecular mass:
    47504 Da
    Quaternary structure:
    • Exists as an octamer composed of four CKMT2 homodimers.
    Miscellaneous:
    • Mitochondrial creatine kinase binds cardiolipin.

    Three dimensional structures from OCA and Proteopedia for CKMT2 Gene

neXtProt entry for CKMT2 Gene

Proteomics data for CKMT2 Gene at MOPED

Post-translational modifications for CKMT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CKMT2 Gene

Antibody Products

Domains & Families for CKMT2 Gene

Suggested Antigen Peptide Sequences for CKMT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P17540

UniProtKB/Swiss-Prot:

KCRS_HUMAN :
  • Contains 1 phosphagen kinase C-terminal domain.
  • Belongs to the ATP:guanido phosphotransferase family.
Domain:
  • Contains 1 phosphagen kinase C-terminal domain.
  • Contains 1 phosphagen kinase N-terminal domain.
Family:
  • Belongs to the ATP:guanido phosphotransferase family.
genes like me logo Genes that share domains with CKMT2: view

No data available for Gene Families for CKMT2 Gene

Function for CKMT2 Gene

Molecular function for CKMT2 Gene

GENATLAS Biochemistry:
creatine kinase,mitochondrial 2 (sarcomeric)
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + creatine = ADP + phosphocreatine.
UniProtKB/Swiss-Prot Function:
Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.

Enzyme Numbers (IUBMB) for CKMT2 Gene

Gene Ontology (GO) - Molecular Function for CKMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CKMT2: view
genes like me logo Genes that share phenotypes with CKMT2: view

Animal Models for CKMT2 Gene

MGI Knock Outs for CKMT2:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CKMT2 Gene

Localization for CKMT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CKMT2 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CKMT2 Gene COMPARTMENTS Subcellular localization image for CKMT2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for CKMT2 Gene

Pathways & Interactions for CKMT2 Gene

genes like me logo Genes that share pathways with CKMT2: view

Pathways by source for CKMT2 Gene

Interacting Proteins for CKMT2 Gene

Gene Ontology (GO) - Biological Process for CKMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006595 polyamine metabolic process TAS --
GO:0006600 creatine metabolic process TAS --
GO:0006936 muscle contraction TAS 2324105
genes like me logo Genes that share ontologies with CKMT2: view

No data available for SIGNOR curated interactions for CKMT2 Gene

Drugs & Compounds for CKMT2 Gene

(5) Drugs for CKMT2 Gene - From: Novoseek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Creatine Approved Nutra Target, ligand 110
Adenosine triphosphate Approved Nutra 0
Phosphocreatine Pharma 6

(4) Additional Compounds for CKMT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with CKMT2: view

Transcripts for CKMT2 Gene

Unigene Clusters for CKMT2 Gene

Creatine kinase, mitochondrial 2 (sarcomeric):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CKMT2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - -
SP5: - -
SP6: -

Relevant External Links for CKMT2 Gene

GeneLoc Exon Structure for
CKMT2
ECgene alternative splicing isoforms for
CKMT2

Expression for CKMT2 Gene

mRNA expression in normal human tissues for CKMT2 Gene

mRNA differential expression in normal tissues according to GTEx for CKMT2 Gene

This gene is overexpressed in Heart - Left Ventricle (x23.5), Muscle - Skeletal (x13.6), and Heart - Atrial Appendage (x9.9).

Protein differential expression in normal tissues from HIPED for CKMT2 Gene

This gene is overexpressed in Heart (42.4), Tonsil (7.3), Fetal heart (7.0), and Liver (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CKMT2 Gene



SOURCE GeneReport for Unigene cluster for CKMT2 Gene Hs.80691

mRNA Expression by UniProt/SwissProt for CKMT2 Gene

P17540-KCRS_HUMAN
Tissue specificity: Sarcomere-specific. Found only in heart and skeletal muscles.
genes like me logo Genes that share expression patterns with CKMT2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for CKMT2 Gene

Orthologs for CKMT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CKMT2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CKMT2 35
  • 90.85 (n)
  • 96.42 (a)
CKMT2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CKMT2 35
  • 90.93 (n)
  • 96.66 (a)
CKMT2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ckmt2 35
  • 88.86 (n)
  • 95.94 (a)
Ckmt2 16
Ckmt2 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CKMT2 35
  • 99.68 (n)
  • 100 (a)
CKMT2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ckmt2 35
  • 87.99 (n)
  • 95.94 (a)
oppossum
(Monodelphis domestica)
Mammalia CKMT2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CKMT2 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves CKMT2 35
  • 78.12 (n)
  • 87.11 (a)
CKMT2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CKMT2 36
  • 86 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ckmt2b 35
  • 71.59 (n)
  • 78.93 (a)
zgc73059 35
ckmt2a 36
  • 80 (a)
OneToMany
ckmt2b 36
  • 80 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Argk 37
  • 38 (a)
CG4546 37
  • 36 (a)
CG5144 37
  • 40 (a)
Argk 36
  • 26 (a)
ManyToMany
CG30274 36
  • 19 (a)
ManyToMany
CG4546 36
  • 29 (a)
ManyToMany
CG5144 36
  • 35 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F32B5.1 37
  • 39 (a)
F44G3.2 37
  • 38 (a)
W10C8.5 37
  • 39 (a)
ZC434.8 37
  • 37 (a)
F11G11.13 36
  • 34 (a)
ManyToMany
F32B5.1 36
  • 33 (a)
ManyToMany
F44G3.2 36
  • 37 (a)
ManyToMany
F46H5.3 36
  • 37 (a)
ManyToMany
W10C8.5 36
  • 35 (a)
ManyToMany
ZC434.8 36
  • 36 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
ManyToMany
-- 36
  • 45 (a)
ManyToMany
-- 36
  • 22 (a)
ManyToMany
CSA.4059 36
  • 63 (a)
ManyToMany
Species with no ortholog for CKMT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CKMT2 Gene

ENSEMBL:
Gene Tree for CKMT2 (if available)
TreeFam:
Gene Tree for CKMT2 (if available)

Paralogs for CKMT2 Gene

Paralogs for CKMT2 Gene

(4) SIMAP similar genes for CKMT2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CKMT2: view

Variants for CKMT2 Gene

Sequence variations from dbSNP and Humsavar for CKMT2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs750728 -- 81,233,937(-) GTGAC(A/G)GCAAA intron-variant
rs2077095 -- 81,233,620(+) AGCAC(A/C/G)CTGCC intron-variant
rs2085453 -- 81,233,754(+) ACAGA(G/T)TCTAA intron-variant
rs2085454 -- 81,233,808(+) CAAAA(G/T)ACATG intron-variant
rs2085455 -- 81,234,059(+) AATTG(G/T)CCCCA intron-variant

Variation tolerance for CKMT2 Gene

Residual Variation Intolerance Score: 9.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CKMT2 Gene

HapMap Linkage Disequilibrium report
CKMT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CKMT2 Gene

Disorders for CKMT2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CKMT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
prostate rhabdomyosarcoma
  • rhabdomyosarcoma of the prostate
dressler's syndrome
  • dressler syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CKMT2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CKMT2

Genetic Association Database (GAD)
CKMT2
Human Genome Epidemiology (HuGE) Navigator
CKMT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CKMT2
genes like me logo Genes that share disorders with CKMT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CKMT2 Gene

Publications for CKMT2 Gene

  1. Separate nuclear genes encode sarcomere-specific and ubiquitous human mitochondrial creatine kinase isoenzymes. (PMID: 2324105) Haas R.C. … Strauss A.W. (J. Biol. Chem. 1990) 2 3 4 67
  2. Free radical-induced inactivation of creatine kinase: influence on the octameric and dimeric states of the mitochondrial enzyme (Mib-CK). (PMID: 10567223) Koufen P. … Stark G. (Biochem. J. 1999) 23 25 26
  3. Mitochondrial creatine kinase is a prime target of peroxynitrite-induced modification and inactivation. (PMID: 9642223) Stachowiak O. … Richter C. (J. Biol. Chem. 1998) 23 25 26
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for CKMT2 Gene

Sources for CKMT2 Gene

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