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

Gene ID: 1160, updated on 7-Dec-2018

Summary

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
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

Genomic context

See CKMT2 in Genome Data Viewer
Location:
5q14.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (81227595..81266398)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (80528605..80562217)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RASGRF2 antisense RNA 1 Neighboring gene uncharacterized LOC107986359 Neighboring gene Ras protein specific guanine nucleotide releasing factor 2 Neighboring gene CKMT2 antisense RNA 1 Neighboring gene zinc finger CCHC-type containing 9 Neighboring gene acyl-CoA thioesterase 12 Neighboring gene single stranded DNA binding protein 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
creatine kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
creatine metabolic process TAS
Traceable Author Statement
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 

General protein information

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
XP_024310124.1

NCBI Reference Sequences (RefSeq)

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_001099735.2NP_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
    UniProtKB/TrEMBL
    A0A024RAK5
    Related
    ENSP00000254035.4, ENST00000254035.8
    Conserved Domains (1) summary
    cd00716
    Location:50407
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes
  2. NM_001099736.1NP_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
    UniProtKB/TrEMBL
    A0A024RAK5
    Related
    ENSP00000410289.1, ENST00000437669.5
    Conserved Domains (1) summary
    cd00716
    Location:50407
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes
  3. NM_001825.2NP_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
    UniProtKB/TrEMBL
    A0A024RAK5
    Related
    ENSP00000404203.2, ENST00000424301.6
    Conserved Domains (1) summary
    cd00716
    Location:50407
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    81227595..81266398
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454356.1XP_024310124.1  creatine kinase S-type, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd00716
    Location:167524
    creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes
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