UCK2 (uridine-cytidine kinase 2) - Rat Genome Database
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Gene: UCK2 (uridine-cytidine kinase 2) Homo sapiens
Analyze
Symbol: UCK2
Name: uridine-cytidine kinase 2
RGD ID: 1602230
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in pyrimidine nucleoside salvage. Predicted to localize to cytosol. Biomarker of pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cytidine monophosphokinase 2; DKFZp686M04245; testis-specific protein TSA903; TSA903; UCK 2; UK; UMPK; uridine kinase; uridine monophosphate kinase; uridine monophosphokinase 2
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
GRCh38.p13 Ensembl1165,827,614 - 165,911,618 (+)EnsemblGRCh38hg38GRCh38
GRCh381165,827,614 - 165,911,618 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371165,796,851 - 165,880,855 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361164,063,514 - 164,143,967 (+)NCBINCBI36hg18NCBI36
Celera1138,902,284 - 138,982,715 (+)NCBI
Cytogenetic Map1q24.1NCBI
HuRef1137,044,441 - 137,128,457 (+)NCBIHuRef
CHM1_11167,219,021 - 167,303,066 (+)NCBICHM1_1
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
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
benzoates  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbofuran  (ISO)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dioxygen  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
folic acid  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methylmercury chloride  (EXP)
methylphenidate  (ISO)
methylseleninic acid  (EXP)
miconazole  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
paracetamol  (ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
resveratrol  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8812458   PMID:8889548   PMID:11306702   PMID:11494055   PMID:12199906   PMID:12477932   PMID:12665801   PMID:12876357   PMID:15130468   PMID:15280220   PMID:15489334   PMID:16196087  
PMID:16484797   PMID:16710414   PMID:17613536   PMID:18051367   PMID:18781797   PMID:19064610   PMID:19483681   PMID:19532987   PMID:19536175   PMID:20972266   PMID:21139048   PMID:21873635  
PMID:21890473   PMID:21906983   PMID:21963094   PMID:21987572   PMID:22053931   PMID:22268729   PMID:22505724   PMID:22939629   PMID:23000965   PMID:23462292   PMID:23666239   PMID:23666240  
PMID:24462114   PMID:24711643   PMID:24797263   PMID:25147182   PMID:26186194   PMID:26760575   PMID:27025967   PMID:27173435   PMID:27239701   PMID:27612203   PMID:27906629   PMID:28319085  
PMID:28514442   PMID:28515276   PMID:28712289   PMID:29117863   PMID:29128334   PMID:29911972   PMID:30304569   PMID:30556610   PMID:31091453   PMID:31278886   PMID:31753913   PMID:31938050  
PMID:32296183  


Genomics

Comparative Map Data
UCK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1165,827,614 - 165,911,618 (+)EnsemblGRCh38hg38GRCh38
GRCh381165,827,614 - 165,911,618 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371165,796,851 - 165,880,855 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361164,063,514 - 164,143,967 (+)NCBINCBI36hg18NCBI36
Celera1138,902,284 - 138,982,715 (+)NCBI
Cytogenetic Map1q24.1NCBI
HuRef1137,044,441 - 137,128,457 (+)NCBIHuRef
CHM1_11167,219,021 - 167,303,066 (+)NCBICHM1_1
Uck2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391167,050,464 - 167,112,926 (-)NCBIGRCm39mm39
GRCm39 Ensembl1167,050,452 - 167,112,889 (-)Ensembl
GRCm381167,222,895 - 167,285,933 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1167,222,883 - 167,285,320 (-)EnsemblGRCm38mm10GRCm38
MGSCv371169,156,214 - 169,215,258 (-)NCBIGRCm37mm9NCBIm37
MGSCv361169,062,758 - 169,121,802 (-)NCBImm8
Celera1169,643,034 - 169,702,477 (-)NCBICelera
Cytogenetic Map1H2.3NCBI
Uck2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21379,380,807 - 79,438,352 (-)NCBI
Rnor_6.0 Ensembl1385,376,716 - 85,443,976 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01385,376,716 - 85,443,976 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.013101,428,775 - 101,429,259 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01390,035,485 - 90,087,109 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41382,892,893 - 82,949,575 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11382,907,443 - 82,914,725 (-)NCBI
Celera1379,089,479 - 79,143,648 (-)NCBICelera
Cytogenetic Map13q24NCBI
Uck2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546210,815,389 - 10,886,227 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546210,815,496 - 10,925,364 (-)NCBIChiLan1.0ChiLan1.0
UCK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11145,110,561 - 145,131,894 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1145,110,434 - 145,131,894 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01141,259,057 - 141,343,122 (+)NCBIMhudiblu_PPA_v0panPan3
UCK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3817,479,558 - 17,579,675 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13817,475,789 - 17,555,926 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Uck2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493648119,505,477 - 19,560,035 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UCK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl484,838,802 - 84,919,236 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1484,838,793 - 84,919,231 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
UCK2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12562,974,515 - 63,059,436 (-)NCBI
ChlSab1.1 Ensembl2562,974,257 - 63,059,414 (-)Ensembl
Uck2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248264,163,830 - 4,243,048 (+)NCBI

Position Markers
G15718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,848,756 - 165,848,916UniSTSGRCh37
Build 361164,115,380 - 164,115,540RGDNCBI36
Celera1138,954,132 - 138,954,304RGD
Cytogenetic Map1q23UniSTS
HuRef1137,096,357 - 137,096,535UniSTS
Marshfield Genetic Map1178.42UniSTS
Marshfield Genetic Map1178.42RGD
AL009583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,870,105 - 165,870,240UniSTSGRCh37
Build 361164,136,729 - 164,136,864RGDNCBI36
Celera1138,975,473 - 138,975,608RGD
Cytogenetic Map1q23UniSTS
HuRef1137,117,704 - 137,117,839UniSTS
RH64600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,879,408 - 165,879,540UniSTSGRCh37
Build 361164,146,032 - 164,146,164RGDNCBI36
Celera1138,984,779 - 138,984,911RGD
Cytogenetic Map1q23UniSTS
HuRef1137,127,010 - 137,127,142UniSTS
GeneMap99-GB4 RH Map1596.62UniSTS
AL009830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,808,692 - 165,808,775UniSTSGRCh37
Build 361164,075,316 - 164,075,399RGDNCBI36
Celera1138,914,086 - 138,914,169RGD
Cytogenetic Map1q23UniSTS
HuRef1137,056,401 - 137,056,484UniSTS
RH80936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,870,926 - 165,871,150UniSTSGRCh37
Build 361164,137,550 - 164,137,774RGDNCBI36
Celera1138,976,294 - 138,976,518RGD
Cytogenetic Map1q23UniSTS
HuRef1137,118,525 - 137,118,749UniSTS
GeneMap99-GB4 RH Map1599.89UniSTS
AL033853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,861,034 - 165,861,177UniSTSGRCh37
Build 361164,127,658 - 164,127,801RGDNCBI36
Celera1138,966,402 - 138,966,545RGD
Cytogenetic Map1q23UniSTS
HuRef1137,108,633 - 137,108,776UniSTS
RH79046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,880,504 - 165,880,668UniSTSGRCh37
Build 361164,147,128 - 164,147,292RGDNCBI36
Celera1138,985,875 - 138,986,039RGD
Cytogenetic Map1q23UniSTS
HuRef1137,128,106 - 137,128,270UniSTS
GeneMap99-GB4 RH Map1596.73UniSTS
G19886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,880,706 - 165,880,807UniSTSGRCh37
Build 361164,147,330 - 164,147,431RGDNCBI36
Celera1138,986,077 - 138,986,178RGD
Cytogenetic Map1q23UniSTS
HuRef1137,128,308 - 137,128,409UniSTS
A002B18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,880,706 - 165,880,807UniSTSGRCh37
Build 361164,147,330 - 164,147,431RGDNCBI36
Celera1138,986,077 - 138,986,178RGD
Cytogenetic Map1q23UniSTS
HuRef1137,128,308 - 137,128,409UniSTS
GeneMap99-GB4 RH Map1597.77UniSTS
NCBI RH Map11446.5UniSTS
SHGC-35183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,877,033 - 165,877,133UniSTSGRCh37
Build 361164,143,657 - 164,143,757RGDNCBI36
Celera1138,982,405 - 138,982,505RGD
Cytogenetic Map1q23UniSTS
HuRef1137,124,636 - 137,124,736UniSTS
TNG Radiation Hybrid Map175047.0UniSTS
GeneMap99-GB4 RH Map1596.83UniSTS
Whitehead-RH Map1726.9UniSTS
D1S1625  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q23UniSTS
HuRef1137,096,325 - 137,096,532UniSTS
Whitehead-YAC Contig Map1 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1678
Count of miRNA genes:618
Interacting mature miRNAs:688
Transcripts:ENST00000367879, ENST00000372212, ENST00000462329, ENST00000463772, ENST00000464197, ENST00000469256, ENST00000470820, ENST00000475333, ENST00000479872
Prediction methods:Microtar, Miranda, Rnahybrid
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
High
Medium 635 410 218 175 748 101 2002 302 616 120 730 560 87 433 1076 4
Low 1797 2504 1504 446 1159 362 2353 1863 3050 297 719 1047 85 771 1712 1
Below cutoff 71 1 1 41 1 28 45 1 3 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001363568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB062451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF236637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM714864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D78335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR762696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC893721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC896472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC910672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000367879   ⟹   ENSP00000356853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,827,614 - 165,911,618 (+)Ensembl
RefSeq Acc Id: ENST00000462329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,892,652 - 165,908,100 (+)Ensembl
RefSeq Acc Id: ENST00000463772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,897,979 - 165,908,109 (+)Ensembl
RefSeq Acc Id: ENST00000464197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,894,166 - 165,907,790 (+)Ensembl
RefSeq Acc Id: ENST00000469256   ⟹   ENSP00000476692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,895,570 - 165,908,074 (+)Ensembl
RefSeq Acc Id: ENST00000470820   ⟹   ENSP00000476327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,895,585 - 165,907,871 (+)Ensembl
RefSeq Acc Id: ENST00000475333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,903,993 - 165,907,948 (+)Ensembl
RefSeq Acc Id: ENST00000479872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,902,595 - 165,911,618 (+)Ensembl
RefSeq Acc Id: ENST00000642653   ⟹   ENSP00000494961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,827,805 - 165,911,608 (+)Ensembl
RefSeq Acc Id: NM_001363568   ⟹   NP_001350497
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,827,614 - 165,911,618 (+)NCBI
RefSeq Acc Id: NM_012474   ⟹   NP_036606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,827,614 - 165,911,618 (+)NCBI
GRCh371165,796,732 - 165,880,855 (+)ENTREZGENE
GRCh371165,796,732 - 165,880,855 (+)NCBI
Build 361164,063,514 - 164,143,967 (+)NCBI Archive
HuRef1137,044,441 - 137,128,457 (+)ENTREZGENE
CHM1_11167,219,021 - 167,303,066 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036606   ⟸   NM_012474
- Peptide Label: isoform 1
- UniProtKB: Q9BZX2 (UniProtKB/Swiss-Prot),   A0A024R912 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350497   ⟸   NM_001363568
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000476692   ⟸   ENST00000469256
RefSeq Acc Id: ENSP00000476327   ⟸   ENST00000470820
RefSeq Acc Id: ENSP00000356853   ⟸   ENST00000367879
RefSeq Acc Id: ENSP00000494961   ⟸   ENST00000642653
Protein Domains
PRK

Promoters
RGD ID:6787171
Promoter ID:HG_KWN:5988
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000096753
Position:
Human AssemblyChrPosition (strand)Source
Build 361164,063,434 - 164,063,934 (+)MPROMDB
RGD ID:6787173
Promoter ID:HG_KWN:5992
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000096759
Position:
Human AssemblyChrPosition (strand)Source
Build 361164,133,086 - 164,133,737 (+)MPROMDB
RGD ID:6857982
Promoter ID:EPDNEW_H2156
Type:initiation region
Name:UCK2_1
Description:uridine-cytidine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2155  EPDNEW_H2157  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,827,616 - 165,827,676EPDNEW
RGD ID:6857984
Promoter ID:EPDNEW_H2157
Type:initiation region
Name:UCK2_3
Description:uridine-cytidine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2155  EPDNEW_H2156  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,895,553 - 165,895,613EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1
pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2
pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1 copy number loss See cases [RCV000053915] Chr1:162040050..167480663 [GRCh38]
Chr1:162009840..167449900 [GRCh37]
Chr1:160276464..165716524 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
GRCh38/hg38 1q23.3-24.3(chr1:164036599-171252077)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|See cases [RCV000053916] Chr1:164036599..171252077 [GRCh38]
Chr1:164005836..171221216 [GRCh37]
Chr1:162272460..169487840 [NCBI36]
Chr1:1q23.3-24.3
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 copy number loss See cases [RCV000143292] Chr1:163382523..175877022 [GRCh38]
Chr1:163352313..175846158 [GRCh37]
Chr1:161618937..174112781 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1 copy number loss not provided [RCV000849156] Chr1:163093021..168991239 [GRCh37]
Chr1:1q23.3-24.2
pathogenic
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2
pathogenic
GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1 copy number loss not provided [RCV001258478] Chr1:164608682..169216098 [GRCh37]
Chr1:1q23.3-24.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12562 AgrOrtholog
COSMIC UCK2 COSMIC
Ensembl Genes ENSG00000143179 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000356853 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000476327 UniProtKB/Swiss-Prot
  ENSP00000476692 UniProtKB/Swiss-Prot
  ENSP00000494961 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000367879 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000469256 UniProtKB/Swiss-Prot
  ENST00000470820 UniProtKB/Swiss-Prot
  ENST00000642653 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000143179 GTEx
HGNC ID HGNC:12562 ENTREZGENE
Human Proteome Map UCK2 Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRK/URK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCK-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Uridine_kinase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7371 UniProtKB/Swiss-Prot
NCBI Gene 7371 ENTREZGENE
OMIM 609329 OMIM
PANTHER PTHR10285:SF131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PRK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA362 PharmGKB, RGD
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs udk UniProtKB/Swiss-Prot
UniProt A0A024R912 ENTREZGENE
  A0A2R8Y653_HUMAN UniProtKB/TrEMBL
  Q9BZX2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5VV91 UniProtKB/Swiss-Prot
  Q7KZV3 UniProtKB/Swiss-Prot
  Q92528 UniProtKB/Swiss-Prot
  Q96KG5 UniProtKB/Swiss-Prot
  Q9BU42 UniProtKB/Swiss-Prot