About   Help   FAQ
Ckmt2 Gene Detail
Summary
  • Symbol
    Ckmt2
  • Name
    creatine kinase, mitochondrial 2
  • Synonyms
    2300008A19Rik, ScCKmit
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923972
    NCBI Gene: 76722
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:92001510-92025001 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 47.43 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    823 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923972
 protein coding gene Chr13:92001506-92025004 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020810
 protein coding gene Chr13:93143302-93167402 (-)
A/J MGP_AJ_G0020764
 protein coding gene Chr13:89700119-89724563 (-)
AKR/J MGP_AKRJ_G0020737
 protein coding gene Chr13:92420836-92444934 (-)
BALB/cJ MGP_BALBcJ_G0020760
 protein coding gene Chr13:90340691-90366216 (-)
C3H/HeJ MGP_C3HHeJ_G0020554
 protein coding gene Chr13:92119912-92144500 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021197
 protein coding gene Chr13:95997978-96022659 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018765
 protein coding gene Chr13:85648160-85671425 (-)
CAST/EiJ MGP_CASTEiJ_G0020073
 protein coding gene Chr13:91388986-91416504 (-)
CBA/J MGP_CBAJ_G0020513
 protein coding gene Chr13:99802367-99828684 (-)
DBA/2J MGP_DBA2J_G0020638
 protein coding gene Chr13:89457135-89480493 (-)
FVB/NJ MGP_FVBNJ_G0020618
 protein coding gene Chr13:88278632-88302137 (-)
LP/J MGP_LPJ_G0020711
 protein coding gene Chr13:93263789-93288142 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020647
 protein coding gene Chr13:100312607-100337280 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021237
 protein coding gene Chr13:91817403-91844940 (-)
PWK/PhJ MGP_PWKPhJ_G0019825
 protein coding gene Chr13:88204431-88228643 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019649
 protein coding gene Chr13:88086720-88109338 (-)
WSB/EiJ MGP_WSBEiJ_G0020130
 protein coding gene Chr13:92302489-92326841 (-)



Homology
more
  • Human Ortholog
    CKMT2, creatine kinase, mitochondrial 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CKMT2, creatine kinase, mitochondrial 2
  • Synonyms
    SMTCK
  • Links
    NCBI Gene ID: 1160
    neXtProt AC: NX_P17540
    UniProt: P17540

  • Chr Location
    5q14.1; chr5:81233320-81266398 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    7 phenotypes from multigenic genotypes
    29 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
The hearts of mice homozygous for disruptions of this gene have hypertrophic and dilated left ventricles exhibit functional abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    842
  • Tissues
    112
  • cDNA Data
    48
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 76722 NCBI Gene Model | MGI Sequence Detail 23492 C57BL/6J ±  kb
    transcript NM_198415 RefSeq | MGI Sequence Detail 1479 C57BL/6  
    polypeptide Q6P8J7 UniProt | EBI | MGI Sequence Detail 419 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000005517 creatine kinase S-type, mitochondrial
      (term hierarchy)
    • EC
      2.7.3.2
    • InterPro Domains
      IPR000749 ATP:guanido phosphotransferase
      IPR022415 ATP:guanido phosphotransferase active site
      IPR022414 ATP:guanido phosphotransferase, catalytic domain
      IPR022413 ATP:guanido phosphotransferase, N-terminal
      IPR036802 ATP:guanido phosphotransferase, N-terminal domain superfamily
      IPR014746 Glutamine synthetase/guanido kinase, catalytic domain
    • GlyGen
      Q6P8J7 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 48
      Primer pair 5

      Microarray probesets 4
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 9
      Gene Ontology 7
      Phenotypes 29
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:347631 Li C, et al., Cfp1 Controls Cardiomyocyte Maturation by Modifying Histone H3K4me3 of Structural, Metabolic, and Contractile Related Genes. Adv Sci (Weinh). 2024 Mar;11(11):e2305992
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory