CMPK2 (cytidine/uridine monophosphate kinase 2) - Rat Genome Database

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Gene: CMPK2 (cytidine/uridine monophosphate kinase 2) Homo sapiens
Analyze
Symbol: CMPK2
Name: cytidine/uridine monophosphate kinase 2
RGD ID: 1602074
HGNC Page HGNC
Description: Enables UMP kinase activity; cytidylate kinase activity; and nucleoside diphosphate kinase activity. Involved in nucleoside diphosphate phosphorylation and nucleoside triphosphate biosynthetic process. Located in mitochondrion and nucleoplasm. Biomarker of multiple sclerosis.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial; cytidylate kinase 2; hypothetical protein loc129607; mitochondrial UMP-CMP kinase; NDK; nucleoside-diphosphate kinase; thymidine monophosphate kinase 2; thymidylate kinase family LPS-inducible member; TMPK2; TYKi; UMP-CMP kinase 2, mitochondrial; UMP-CMPK2; UMP/CMP kinase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3826,840,553 - 6,866,635 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl26,840,570 - 6,866,635 (-)EnsemblGRCh38hg38GRCh38
GRCh3726,980,684 - 7,006,766 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3626,905,902 - 6,923,387 (-)NCBINCBI36hg18NCBI36
Celera26,901,418 - 6,918,887 (-)NCBI
Cytogenetic Map2p25.2NCBI
HuRef26,827,170 - 6,854,378 (-)NCBIHuRef
CHM1_126,910,237 - 6,936,319 (-)NCBICHM1_1
T2T-CHM13v2.026,862,071 - 6,888,137 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
calciol  (ISO)
cannabidiol  (EXP,ISO)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cyclosporin A  (EXP,ISO)
diclofenac  (EXP)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
flurbiprofen  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
GW 4064  (ISO)
hydroquinone  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (EXP,ISO)
manganese(II) chloride  (ISO)
methapyrilene  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP)
quercetin  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
succimer  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA)
mitochondrion  (IBA,IDA,IEA)
nucleoplasm  (IDA)

References

References - curated
# Reference Title Reference Citation
1. Characterization of pyrimidine nucleoside monophosphokinase in normal and malignant tissues. Arima T, etal., Cancer Res. 1977 Jun;37(6):1593-7.
2. Long-term genome-wide blood RNA expression profiles yield novel molecular response candidates for IFN-beta-1b treatment in relapsing remitting MS. Goertsches RH, etal., Pharmacogenomics. 2010 Feb;11(2):147-61.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16344560   PMID:17999954   PMID:18029348   PMID:18498354   PMID:20379614   PMID:21873635   PMID:23416111   PMID:33874983  


Genomics

Comparative Map Data
CMPK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3826,840,553 - 6,866,635 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl26,840,570 - 6,866,635 (-)EnsemblGRCh38hg38GRCh38
GRCh3726,980,684 - 7,006,766 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3626,905,902 - 6,923,387 (-)NCBINCBI36hg18NCBI36
Celera26,901,418 - 6,918,887 (-)NCBI
Cytogenetic Map2p25.2NCBI
HuRef26,827,170 - 6,854,378 (-)NCBIHuRef
CHM1_126,910,237 - 6,936,319 (-)NCBICHM1_1
T2T-CHM13v2.026,862,071 - 6,888,137 (-)NCBI
Cmpk2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391226,519,121 - 26,529,836 (+)NCBIGRCm39mm39
GRCm39 Ensembl1226,519,203 - 26,529,836 (+)Ensembl
GRCm381226,469,117 - 26,479,837 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1226,469,204 - 26,479,837 (+)EnsemblGRCm38mm10GRCm38
MGSCv371227,154,080 - 27,164,702 (+)NCBIGRCm37mm9NCBIm37
MGSCv361227,055,650 - 27,066,102 (+)NCBImm8
Celera1227,927,424 - 27,938,075 (+)NCBICelera
Cytogenetic Map12A2NCBI
cM Map129.69NCBI
Cmpk2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2643,073,706 - 43,085,183 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl643,073,796 - 43,085,183 (+)Ensembl
Rnor_6.0645,683,242 - 45,694,824 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl645,683,234 - 45,694,822 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0654,403,014 - 54,414,586 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4644,128,544 - 44,139,346 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1644,131,662 - 44,142,474 (+)NCBI
Celera642,340,630 - 42,351,433 (+)NCBICelera
Cytogenetic Map6q16NCBI
Cmpk2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554872,010,228 - 2,029,175 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554872,010,126 - 2,024,804 (+)NCBIChiLan1.0ChiLan1.0
CMPK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A6,985,922 - 7,013,703 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02A6,856,242 - 6,874,567 (-)NCBIMhudiblu_PPA_v0panPan3
CMPK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1174,466,615 - 4,478,546 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha174,392,411 - 4,405,578 (-)NCBI
ROS_Cfam_1.0174,569,103 - 4,582,289 (-)NCBI
ROS_Cfam_1.0 Ensembl174,569,983 - 4,582,289 (-)Ensembl
UMICH_Zoey_3.1174,456,522 - 4,469,702 (-)NCBI
UNSW_CanFamBas_1.0174,465,166 - 4,478,340 (-)NCBI
UU_Cfam_GSD_1.0174,478,967 - 4,492,134 (-)NCBI
Cmpk2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629249,140,895 - 49,153,365 (-)NCBI
SpeTri2.0NW_0049365323,896,654 - 3,908,184 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CMPK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3128,903,616 - 128,917,871 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13128,903,395 - 128,917,873 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23137,688,692 - 137,704,129 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CMPK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.114100,804,295 - 100,820,565 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl14100,804,400 - 100,819,027 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604511,521,315 - 11,537,626 (-)NCBIVero_WHO_p1.0
Cmpk2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248463,417,626 - 3,430,516 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248463,417,672 - 3,432,207 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-19914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3726,988,456 - 6,988,605UniSTSGRCh37
Build 3626,905,907 - 6,906,056RGDNCBI36
Celera26,901,423 - 6,901,572RGD
Cytogenetic Map2p25.2UniSTS
HuRef26,834,941 - 6,835,090UniSTS
GeneMap99-GB4 RH Map231.42UniSTS
Whitehead-RH Map223.4UniSTS
SHGC-31892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3726,988,466 - 6,988,594UniSTSGRCh37
Build 3626,905,917 - 6,906,045RGDNCBI36
Celera26,901,433 - 6,901,561RGD
Cytogenetic Map2p25.2UniSTS
HuRef26,834,951 - 6,835,079UniSTS
TNG Radiation Hybrid Map24741.0UniSTS
Stanford-G3 RH Map2166.0UniSTS
GeneMap99-G3 RH Map2161.0UniSTS
WI-12597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3726,989,167 - 6,989,291UniSTSGRCh37
Build 3626,906,618 - 6,906,742RGDNCBI36
Celera26,902,134 - 6,902,258RGD
Cytogenetic Map2p25.2UniSTS
HuRef26,835,652 - 6,835,776UniSTS
GeneMap99-GB4 RH Map244.63UniSTS
Whitehead-RH Map245.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1586
Count of miRNA genes:905
Interacting mature miRNAs:1060
Transcripts:ENST00000256722, ENST00000404168, ENST00000458098, ENST00000465619, ENST00000470479, ENST00000478738, ENST00000491738
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 51 38 63 35 406 35 65 10 69 34 128 194 6 50 19 1
Low 2344 2745 1604 542 1313 380 3671 2022 3441 354 1261 1361 162 1152 2417 2 1
Below cutoff 32 201 50 43 170 46 612 154 207 25 51 41 3 2 352

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001256477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC017076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC089425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX463706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA501203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ412833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000256722   ⟹   ENSP00000256722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl26,848,316 - 6,865,907 (-)Ensembl
RefSeq Acc Id: ENST00000404168   ⟹   ENSP00000384915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl26,850,650 - 6,865,712 (-)Ensembl
RefSeq Acc Id: ENST00000458098   ⟹   ENSP00000396385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl26,840,570 - 6,865,819 (-)Ensembl
RefSeq Acc Id: ENST00000465619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl26,849,905 - 6,866,511 (-)Ensembl
RefSeq Acc Id: ENST00000470479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl26,861,258 - 6,866,635 (-)Ensembl
RefSeq Acc Id: ENST00000478738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl26,848,318 - 6,866,635 (-)Ensembl
RefSeq Acc Id: ENST00000491738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl26,849,889 - 6,862,065 (-)Ensembl
RefSeq Acc Id: NM_001256477   ⟹   NP_001243406
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3826,850,650 - 6,865,819 (-)NCBI
GRCh3726,980,684 - 7,006,766 (-)NCBI
HuRef26,827,170 - 6,854,378 (-)NCBI
CHM1_126,920,333 - 6,935,503 (-)NCBI
T2T-CHM13v2.026,872,168 - 6,887,321 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256478   ⟹   NP_001243407
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3826,840,553 - 6,865,819 (-)NCBI
GRCh3726,980,684 - 7,006,766 (-)NCBI
HuRef26,827,170 - 6,854,378 (-)NCBI
CHM1_126,910,237 - 6,935,503 (-)NCBI
T2T-CHM13v2.026,862,071 - 6,887,321 (-)NCBI
Sequence:
RefSeq Acc Id: NM_207315   ⟹   NP_997198
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3826,848,316 - 6,865,907 (-)NCBI
GRCh3726,980,684 - 7,006,766 (-)NCBI
Build 3626,905,902 - 6,923,387 (-)NCBI Archive
Celera26,901,418 - 6,918,887 (-)RGD
HuRef26,827,170 - 6,854,378 (-)NCBI
CHM1_126,917,992 - 6,935,503 (-)NCBI
T2T-CHM13v2.026,869,834 - 6,887,409 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046236
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3826,848,316 - 6,866,635 (-)NCBI
GRCh3726,980,684 - 7,006,766 (-)NCBI
HuRef26,827,170 - 6,854,378 (-)NCBI
CHM1_126,917,992 - 6,936,319 (-)NCBI
T2T-CHM13v2.026,869,834 - 6,888,137 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_997198   ⟸   NM_207315
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5EBM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243407   ⟸   NM_001256478
- Peptide Label: isoform 3 precursor
- UniProtKB: Q5EBM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243406   ⟸   NM_001256477
- Peptide Label: isoform 2 precursor
- UniProtKB: Q5EBM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000256722   ⟸   ENST00000256722
RefSeq Acc Id: ENSP00000384915   ⟸   ENST00000404168
RefSeq Acc Id: ENSP00000396385   ⟸   ENST00000458098

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5EBM0-F1-model_v2 AlphaFold Q5EBM0 1-449 view protein structure

Promoters
RGD ID:6859566
Promoter ID:EPDNEW_H2948
Type:initiation region
Name:CMPK2_1
Description:cytidine/uridine monophosphate kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2950  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3826,865,664 - 6,865,724EPDNEW
RGD ID:6859570
Promoter ID:EPDNEW_H2950
Type:initiation region
Name:CMPK2_2
Description:cytidine/uridine monophosphate kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2948  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3826,865,907 - 6,865,967EPDNEW
RGD ID:6796993
Promoter ID:HG_KWN:31417
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002QYN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3626,908,731 - 6,909,231 (-)MPROMDB
RGD ID:6797018
Promoter ID:HG_KWN:31420
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000323412,   OTTHUMT00000323502,   UC010EWV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3626,921,611 - 6,923,397 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 copy number gain See cases [RCV000052928] Chr2:30141..14494040 [GRCh38]
Chr2:30141..14634164 [GRCh37]
Chr2:20141..14551615 [NCBI36]
Chr2:2p25.3-24.3
pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 copy number gain See cases [RCV000052931] Chr2:30342..14866951 [GRCh38]
Chr2:30342..15007075 [GRCh37]
Chr2:20342..14924526 [NCBI36]
Chr2:2p25.3-24.3
pathogenic
GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3 copy number gain See cases [RCV000052932] Chr2:50661..9652907 [GRCh38]
Chr2:50661..9793036 [GRCh37]
Chr2:40661..9710487 [NCBI36]
Chr2:2p25.3-25.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p25.2-25.1(chr2:6503572-7934538)x3 copy number gain See cases [RCV000052626] Chr2:6503572..7934538 [GRCh38]
Chr2:6643704..8074669 [GRCh37]
Chr2:6561155..7992120 [NCBI36]
Chr2:2p25.2-25.1
uncertain significance
GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 copy number loss See cases [RCV000053978] Chr2:6531172..16103799 [GRCh38]
Chr2:6671304..16243921 [GRCh37]
Chr2:6588755..16161372 [NCBI36]
Chr2:2p25.2-24.3
pathogenic
NM_001256477.1(CMPK2):c.790+583G>C single nucleotide variant Lung cancer [RCV000092294] Chr2:6862881 [GRCh38]
Chr2:7003012 [GRCh37]
Chr2:2p25.2
uncertain significance
GRCh38/hg38 2p25.2-25.1(chr2:4416714-7632837)x1 copy number loss See cases [RCV000133995] Chr2:4416714..7632837 [GRCh38]
Chr2:4464304..7772968 [GRCh37]
Chr2:4442179..7690419 [NCBI36]
Chr2:2p25.2-25.1
likely pathogenic|uncertain significance
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1
pathogenic|likely pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1
pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1 copy number loss not provided [RCV000509127] Chr2:4500550..7378329 [GRCh37]
Chr2:2p25.2-25.1
not provided
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.2-25.1(chr2:6295523-7555446)x3 copy number gain not provided [RCV000682125] Chr2:6295523..7555446 [GRCh37]
Chr2:2p25.2-25.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.2(chr2:6750679-7030957)x1 copy number loss not provided [RCV001005227] Chr2:6750679..7030957 [GRCh37]
Chr2:2p25.2
uncertain significance
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 copy number gain not provided [RCV000847256] Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1
pathogenic
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 copy number gain not provided [RCV000847257] Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1
pathogenic
GRCh37/hg19 2p25.2-25.1(chr2:6297801-7555446)x3 copy number gain not provided [RCV001827660] Chr2:6297801..7555446 [GRCh37]
Chr2:2p25.2-25.1
uncertain significance
Single allele duplication not provided [RCV002227746] Chr2:6154935..7419585 [GRCh38]
Chr2:2p25.2-25.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27015 AgrOrtholog
COSMIC CMPK2 COSMIC
Ensembl Genes ENSG00000134326 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000256722 ENTREZGENE
  ENSP00000256722.5 UniProtKB/Swiss-Prot
  ENSP00000384915 ENTREZGENE
  ENSP00000384915.1 UniProtKB/Swiss-Prot
  ENSP00000396385 ENTREZGENE
  ENSP00000396385.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000256722 ENTREZGENE
  ENST00000256722.10 UniProtKB/Swiss-Prot
  ENST00000404168 ENTREZGENE
  ENST00000404168.1 UniProtKB/Swiss-Prot
  ENST00000458098 ENTREZGENE
  ENST00000458098.5 UniProtKB/Swiss-Prot
  ENST00000478738 ENTREZGENE
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000134326 GTEx
HGNC ID HGNC:27015 ENTREZGENE
Human Proteome Map CMPK2 Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot
  Thymidylate_kin-like_dom UniProtKB/Swiss-Prot
  UMP-CMP_kinase_2 UniProtKB/Swiss-Prot
KEGG Report hsa:129607 UniProtKB/Swiss-Prot
NCBI Gene 129607 ENTREZGENE
OMIM 611787 OMIM
Pfam Thymidylate_kin UniProtKB/Swiss-Prot
PharmGKB PA162382556 PharmGKB
PIRSF dTMP_TKRP1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt CMPK2_HUMAN UniProtKB/Swiss-Prot
  I1Z9C7_HUMAN UniProtKB/TrEMBL
  Q5EBM0 ENTREZGENE
UniProt Secondary A2RUB0 UniProtKB/Swiss-Prot
  A5D8T2 UniProtKB/Swiss-Prot
  B7ZM18 UniProtKB/Swiss-Prot
  Q6ZRU2 UniProtKB/Swiss-Prot
  Q96AL8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 CMPK2  cytidine/uridine monophosphate kinase 2    cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial  Symbol and/or name change 5135510 APPROVED