Tk2 MGI Mouse Gene Detail - MGI:1913266 - thymidine kinase 2, mitochondrial

Symbol

Tk2
Name

thymidine kinase 2, mitochondrial

Feature Type

protein coding gene
IDs

MGI:1913266
NCBI Gene: 57813
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr8:104953317-104975190 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 53.04 cM
Mapping Data

2 experiments

SNPs within 2kb

711 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

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

HGNC:11831

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

Diseases

1 with Tk2 mouse models; 2 with human TK2 associations

Human Disease

Mouse Models

mitochondrial DNA depletion syndrome 2

IDs

View 1 model

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3

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

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Phenotype Summary

23 phenotypes from 2 alleles in 2 genetic backgrounds
18 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

7
Endonuclease-mediated

1
Gene trapped

2
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

19 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

23
GO References

12

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

800
Tissues

94
cDNA Data

56
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tk2

ZFIN tk2

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All Sequences

90
RefSeq

20
UniProt

6
CCDS

CCDS22573.1

Ensembl

ENSMUSG00000035824 (Evidence)
NCBI Gene

57813

			Length	Strain/Species	Flank
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

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UniProt

6 Sequences
Protein Ontology

PR:000016368 thymidine kinase 2, mitochondrial

(term hierarchy)
EC

2.7.1.-, 2.7.1.21, 2.7.1.74
InterPro Domains

IPR002624 Deoxynucleoside kinase

IPR031314 Deoxynucleoside kinase domain

IPR050566 Deoxyribonucleoside Kinase

IPR027417 P-loop containing nucleoside triphosphate hydrolase

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All nucleic 56

cDNA 56

Microarray probesets 3

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MGI:2142713

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

TSS for Tk2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr82596	Chr8:104975131-104975201 (-)	24 bp
Tssr82595	Chr8:104974202-104974206 (-)	986 bp
Tssr82594	Chr8:104966255-104966260 (-)	8,932 bp

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