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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
  • Mib-CK 3 4
  • S-MtCK 3 4
  • Creatine Kinase S-Type, Mitochondrial 3
  • EC 2.7.3.2 4
  • 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 Mitochondrial Myopathy and Prostate Rhabdomyosarcoma. Among its related pathways are Metabolism and Arginine and proline metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and creatine kinase activity. An important paralog of this gene is CKMT1A.

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

Additional gene information for CKMT2 Gene

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

Genomics for CKMT2 Gene

GeneHancer (GH) Regulatory Elements for CKMT2 Gene

Promoters and enhancers for CKMT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J081231 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.7 705 4.8 DRAP1 ESRRA SAP130 ZIC2 ZFHX2 GLIS2 ZNF316 POLR2A IKZF5 SCRT2 CKMT2 GC05M081226 CKMT2-AS1 ENSG00000248794 ENSG00000249772 GC05P081229
GH05J081267 Enhancer 0.9 Ensembl ENCODE 10.9 +35.9 35933 2.5 MXI1 FOXA2 MLX MAX KLF17 CEBPG FOSL1 ZNF335 PATZ1 SCRT2 CKMT2-AS1 ZCCHC9 CKMT2 ENSG00000248794
GH05J081352 Enhancer 0.9 ENCODE 10.1 +120.7 120709 2.2 FOXA2 MLX ARID4B ETS1 YY1 SLC30A9 RXRA MXD4 MIER2 REST ZCCHC9 CKMT2-AS1 ACOT12 CKMT2 GC05M081320
GH05J081212 Enhancer 0.6 ENCODE 11.8 -20.7 -20664 0.7 CTCF EBF1 DPF2 ATF2 IRF4 IKZF1 NBN ZNF143 ATF7 MLLT1 CKMT2 ENSG00000249772 ENSG00000248794 ATG10 GC05P081229 CKMT2-AS1 RASGRF2
GH05J081165 Enhancer 0.7 ENCODE 10.1 -67.6 -67588 0.2 CTCF USF1 MAX SIN3A BATF ZNF2 RAD21 TEAD3 ZNF143 SMC3 ENSG00000249772 CKMT2 ENSG00000248794 GC05P081229 RASGRF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CKMT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CKMT2 gene promoter:

Genomic Locations for CKMT2 Gene

Genomic Locations for CKMT2 Gene
chr5:81,233,285-81,266,398
(GRCh38/hg38)
Size:
33,114 bases
Orientation:
Plus strand
chr5:80,529,104-80,562,217
(GRCh37/hg19)

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

Post-translational modifications for CKMT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CKMT2 Gene

Domains & Families for CKMT2 Gene

Gene Families for CKMT2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

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 :
  • Belongs to the ATP:guanido phosphotransferase family.
Family:
  • Belongs to the ATP:guanido phosphotransferase family.
genes like me logo Genes that share domains with CKMT2: view

Function for CKMT2 Gene

Molecular function for CKMT2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + creatine = ADP + phosphocreatine.
GENATLAS Biochemistry:
creatine kinase,mitochondrial 2 (sarcomeric)

Enzyme Numbers (IUBMB) for CKMT2 Gene

Gene Ontology (GO) - Molecular Function for CKMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004111 creatine kinase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CKMT2

Clone Products

  • Addgene plasmids for CKMT2

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CKMT2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CKMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,HDA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CKMT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

Gene Ontology (GO) - Biological Process for CKMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006600 creatine metabolic process TAS --
GO:0006936 muscle contraction TAS 2324105
GO:0016310 phosphorylation IEA --
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: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Creatine Approved, Investigational Nutra Target, ligand 139
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
Phosphocreatine Nutra Target, ligand 10

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CKMT2

Clone Products

  • Addgene plasmids for CKMT2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CKMT2 Gene



NURSA nuclear receptor signaling pathways regulating expression of CKMT2 Gene:

CKMT2

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.

Evidence on tissue expression from TISSUES for CKMT2 Gene

  • Heart(4.8)
  • Muscle(4.4)
  • Nervous system(4.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with CKMT2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CKMT2 34 33
  • 99.68 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CKMT2 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CKMT2 34 33
  • 90.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CKMT2 34 33
  • 90.85 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CKMT2 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ckmt2 16 34 33
  • 88.86 (n)
rat
(Rattus norvegicus)
Mammalia Ckmt2 33
  • 87.99 (n)
chicken
(Gallus gallus)
Aves CKMT2 34 33
  • 78.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CKMT2 34
  • 86 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ckmt2a 34
  • 80 (a)
OneToMany
ckmt2b 34 33
  • 71.59 (n)
OneToMany
zgc73059 33
fruit fly
(Drosophila melanogaster)
Insecta CG5144 34 35
  • 35 (a)
ManyToMany
CG4546 34 35
  • 29 (a)
ManyToMany
Argk 34 35
  • 26 (a)
ManyToMany
CG30274 34
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F44G3.2 34 35
  • 37 (a)
ManyToMany
F46H5.3 34
  • 37 (a)
ManyToMany
ZC434.8 34 35
  • 36 (a)
ManyToMany
W10C8.5 34 35
  • 35 (a)
ManyToMany
F11G11.13 34
  • 34 (a)
ManyToMany
F32B5.1 34 35
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
ManyToMany
CSA.4059 34
  • 63 (a)
ManyToMany
-- 34
  • 45 (a)
ManyToMany
-- 34
  • 22 (a)
ManyToMany
Species where no ortholog for CKMT2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CKMT2: view image

Paralogs for CKMT2 Gene

Paralogs for CKMT2 Gene

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

  • KCRS_HUMAN
  • D6R998_HUMAN
  • D6RHV3_HUMAN
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 Variation AA Info Type
rs1000056836 -- 81,233,483(+) C/T intron_variant
rs1000191461 -- 81,235,354(+) G/A intron_variant
rs1000196565 -- 81,237,511(+) A/C intron_variant
rs1000351430 -- 81,253,721(+) A/C intron_variant
rs1000525897 -- 81,236,778(+) G/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CKMT2 Gene

Variant ID Type Subtype PubMed ID
dgv1621e212 CNV loss 25503493
esv2763877 CNV loss 21179565
esv3605591 CNV loss 21293372
esv3890664 CNV gain 25118596
nsv598750 CNV gain 21841781
nsv964904 CNV duplication 23825009

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)

Additional Variant Information for CKMT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CKMT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CKMT2 Gene

Disorders for CKMT2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CKMT2 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
mitochondrial myopathy
  • mitochondrial cytopathy
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

Additional Disease Information for CKMT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RC … Strauss AW (The Journal of biological chemistry 1990) 2 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. C-terminal lysines determine phospholipid interaction of sarcomeric mitochondrial creatine kinase. (PMID: 15044463) Schlattner U … Wallimann T (The Journal of biological chemistry 2004) 3 22 58
  5. Differential effects of peroxynitrite on human mitochondrial creatine kinase isoenzymes. Inactivation, octamer destabilization, and identification of involved residues. (PMID: 12401781) Wendt S … Wallimann T (The Journal of biological chemistry 2003) 3 22 58

Products for CKMT2 Gene

Sources for CKMT2 Gene

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