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Tk2 Gene Detail
Summary
  • Symbol
    Tk2
  • Name
    thymidine kinase 2, mitochondrial
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913266
    NCBI Gene: 57813
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:104953317-104975190 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 8, 53.04 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    711 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913266
protein coding gene Chr8:104953317-104975224 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034002
protein coding gene Chr8:106340352-106362549 (-)
A/J MGP_AJ_G0033983
protein coding gene Chr8:102115636-102137582 (-)
AKR/J MGP_AKRJ_G0033910
protein coding gene Chr8:105075390-105097263 (-)
BALB/cJ MGP_BALBcJ_G0033976
protein coding gene Chr8:102345650-102368825 (-)
C3H/HeJ MGP_C3HHeJ_G0033688
protein coding gene Chr8:105772791-105795247 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034497
protein coding gene Chr8:110245927-110267794 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031440
protein coding gene Chr8:95425124-95449500 (-)
CAST/EiJ MGP_CASTEiJ_G0033018
protein coding gene Chr8:105349012-105373935 (-)
CBA/J MGP_CBAJ_G0033662
protein coding gene Chr8:113873608-113895487 (-)
DBA/2J MGP_DBA2J_G0033816
protein coding gene Chr8:101480974-101503175 (-)
FVB/NJ MGP_FVBNJ_G0033763
protein coding gene Chr8:100418852-100441116 (-)
LP/J MGP_LPJ_G0033907
protein coding gene Chr8:106520864-106545353 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033805
protein coding gene Chr8:117065743-117088691 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034515
protein coding gene Chr8:105041288-105063668 (-)
PWK/PhJ MGP_PWKPhJ_G0032719
protein coding gene Chr8:100891106-100914615 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032557
protein coding gene Chr8:103865325-103889051 (-)
WSB/EiJ MGP_WSBEiJ_G0033131
protein coding gene Chr8:105710052-105734312 (-)



Homology
more
  • Human Ortholog
    TK2, thymidine kinase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TK2, thymidine kinase 2
  • Synonyms
    MTDPS2, MTTK, PEOB3, SCA31, TK2-EXT
  • Links
    NCBI Gene ID: 7084
    neXtProt AC: NX_O00142
    UniProt: O00142

  • Chr Location
    16q21; chr16:66508003-66552544 (-)  GRCh38

  • MGI Vertebrate Homology
    Tk2 stringent orthology
    1 human;1 mouse;1 rat;1 zebrafish
  • HCOP
    vertebrate homology predictions: TK2
  • Protein SuperFamily
    DNK
  • Gene Tree
    Tk2
Human Diseases
more
  • Diseases
    1 with Tk2 mouse models; 2 with human TK2 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 2 alleles in 2 genetic backgrounds
    18 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.
Knock-out mice die at 2-4 wks of age showing stunted growth, hypothermia, progressive mtDNA loss, aberrant myocardial fibers and altered adipose tissue structure. Knock-in mutant mice show encephalomyelopathy, impaired gait, mtDNA loss, altered mt dNTP pools and respiratory chain enzyme activities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035824 Ensembl Gene Model | MGI Sequence Detail 21874 C57BL/6J ±  kb
    transcript ENSMUST00000050211 Ensembl | MGI Sequence Detail 2406 Not Applicable  
    polypeptide ENSMUSP00000053616 Ensembl | MGI Sequence Detail 270 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 56
      cDNA 56

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2142713
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 12
      Phenotypes 18
    • Earliest
      J:64961 Wettin K, et al., Cloning of mouse mitochondrial thymidine kinase 2 cDNA. FEBS Lett. 1999 Oct 22;460(1):103-6
    • Latest
      J:252377 Siegmund SE, et al., Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome. Hum Mol Genet. 2017 Dec 1;26(23):4588-4605

    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)
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    Funding Information
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    last database update
    11/19/2024
    MGI 6.24
    The Jackson Laboratory