U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CKMT2 creatine kinase, mitochondrial 2 [ Homo sapiens (human) ]

Gene ID: 1160, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
CKMT2provided by HGNC
Official Full Name
creatine kinase, mitochondrial 2provided by HGNC
Primary source
HGNC:HGNC:1996
See related
Ensembl:ENSG00000131730 MIM:123295; AllianceGenome:HGNC:1996
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMTCK
Summary
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]
Expression
Biased expression in heart (RPKM 295.9) and prostate (RPKM 10.7) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5q14.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (81233322..81266398)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (81717903..81750979)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (80529141..80562217)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:80252674-80253194 Neighboring gene RASGRF2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:80256285-80257006 Neighboring gene Sharpr-MPRA regulatory region 14075 Neighboring gene Ras protein specific guanine nucleotide releasing factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:80487900-80488408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:80488409-80488915 Neighboring gene uncharacterized LOC124901017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22730 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:80564272-80565471 Neighboring gene CKMT2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80565548-80566100 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80566101-80566651 Neighboring gene MPRA-validated peak5313 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80597135-80597924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80597925-80598714 Neighboring gene zinc finger CCHC-type containing 9 Neighboring gene acyl-CoA thioesterase 12 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:80728863-80729548 Neighboring gene NANOG hESC enhancer GRCh37_chr5:80746651-80747152 Neighboring gene single stranded DNA binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16141 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:80983594-80984094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16143 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16146

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Protein kinase CK2alpha as an unfavorable prognostic marker and novel therapeutic target in acute myeloid leukemia. Kim JS, et al. Clin Cancer Res, 2007 Feb 1. PMID 17289898
  2. C-terminal lysines determine phospholipid interaction of sarcomeric mitochondrial creatine kinase. Schlattner U, et al. J Biol Chem, 2004 Jun 4. PMID 15044463
  3. Characterization of two types of mitochondrial creatine kinase isolated from normal human cardiac muscle and brain tissue. Kanemitsu F, et al. Electrophoresis, 2000 Jan. PMID 10674997
  4. Oxidative myocytes of heart and skeletal muscle express abundant sarcomeric mitochondrial creatine kinase. Qin W, et al. Histochem J, 1999 Jun. PMID 10462222
  5. Elements regulating cardiomyocyte expression of the human sarcomeric mitochondrial creatine kinase gene in transgenic mice. Qin W, et al. J Biol Chem, 1997 Oct 3. PMID 9312135

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Prognostic value of mitochondrial CKMT2 in Pan-cancer and its tumor immune correlation analysis.
    Title: Prognostic value of mitochondrial CKMT2 in Pan-cancer and its tumor immune correlation analysis.
  2. These findings support increased CK activity as protection against ischaemia-reperfusion injury, in particular, protection via CKMT2 in a cardiac-relevant cell line, which merits further investigation in vivo.
    Title: Increasing creatine kinase activity protects against hypoxia / reoxygenation injury but not against anthracycline toxicity in vitro.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. three C-terminal lysines determine high affinity sMtCK/cardiolipin interaction and its effects on MtCK structure, whereas low level binding and some effect on membrane fluidity depend on other structural components
    Title: C-terminal lysines determine phospholipid interaction of sarcomeric mitochondrial creatine kinase.
  5. CK2alpha has a role in progression of acute myeloid leukemia
    Title: Protein kinase CK2alpha as an unfavorable prognostic marker and novel therapeutic target in acute myeloid leukemia.
  6. After the training period, intracellular energetic units had a higher control of mitochondrial respiration by creatine linked to a more efficient functional coupling adenine nucleotide translocase-mitochondrial creatine kinase.
    Title: Functional coupling of adenine nucleotide translocase and mitochondrial creatine kinase is enhanced after exercise training in lung transplant skeletal muscle.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables creatine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in muscle contraction TAS
Traceable Author Statement
more info
 PubMed 
involved_in phosphocreatine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
creatine kinase S-type, mitochondrial
Names
S-MtCK
basic-type mitochondrial creatine kinase
creatine kinase, mitochondrial 2 (sarcomeric)
mib-CK
sarcomeric mitochondrial creatine kinase
NP_001093205.1
NP_001093206.1
NP_001816.2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001099735.2 → NP_001093205.1  creatine kinase S-type, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001093205.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AW300490, BC029140, DB479765
    Consensus CDS
    CCDS4053.1
    UniProtKB/Swiss-Prot
    P17540, Q6ICS8, Q8N1E1
    UniProtKB/TrEMBL
    B2R8A3
    Related
    ENSP00000254035.4, ENST00000254035.9
    Conserved Domains (1) summary
    cd00716
    Location:50 → 407
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

  2. NM_001099736.2 → NP_001093206.1  creatine kinase S-type, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001093206.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AW300490, BC029140, DC308656
    Consensus CDS
    CCDS4053.1
    UniProtKB/Swiss-Prot
    P17540, Q6ICS8, Q8N1E1
    UniProtKB/TrEMBL
    B2R8A3
    Related
    ENSP00000410289.1, ENST00000437669.5
    Conserved Domains (1) summary
    cd00716
    Location:50 → 407
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

  3. NM_001825.3 → NP_001816.2  creatine kinase S-type, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001816.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AW300490, BC029140, DA826840, DB479765
    Consensus CDS
    CCDS4053.1
    UniProtKB/Swiss-Prot
    P17540, Q6ICS8, Q8N1E1
    UniProtKB/TrEMBL
    B2R8A3
    Related
    ENSP00000404203.2, ENST00000424301.6
    Conserved Domains (1) summary
    cd00716
    Location:50 → 407
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    81233322..81266398
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    81717903..81750979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P17540.2 GenPept UniProtKB/Swiss-Prot:P17540

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous