This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010] See more...

Aliases for UCK2 Gene

Aliases for UCK2 Gene

  • Uridine-Cytidine Kinase 2 2 3 4 5
  • Testis-Specific Protein TSA903 3 4
  • Uridine Monophosphate Kinase 2 3
  • Cytidine Monophosphokinase 2 3 4
  • Uridine Monophosphokinase 2 3 4
  • EC 2.7.1.48 4 51
  • UMPK 3 4
  • Uridine Kinase 3
  • TSA903 3
  • UCK 2 4
  • UCK2 5
  • UK 3

External Ids for UCK2 Gene

Previous HGNC Symbols for UCK2 Gene

  • UMPK

Previous GeneCards Identifiers for UCK2 Gene

  • GC01P162528
  • GC01P164063
  • GC01P137044

Summaries for UCK2 Gene

Entrez Gene Summary for UCK2 Gene

  • This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]

GeneCards Summary for UCK2 Gene

UCK2 (Uridine-Cytidine Kinase 2) is a Protein Coding gene. Diseases associated with UCK2 include Distal Muscular Dystrophy With Anterior Tibial Onset and Testicular Germ Cell Tumor. Among its related pathways are Metabolism of nucleotides and Metabolism. Gene Ontology (GO) annotations related to this gene include kinase activity and dephospho-CoA kinase activity. An important paralog of this gene is UCK1.

UniProtKB/Swiss-Prot Summary for UCK2 Gene

  • Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine.

Gene Wiki entry for UCK2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UCK2 Gene

Genomics for UCK2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UCK2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UCK2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UCK2

Top Transcription factor binding sites by QIAGEN in the UCK2 gene promoter:
  • E2F
  • E2F-1
  • FOXO1
  • FOXO1a
  • HSF2
  • IRF-7A
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for UCK2 Gene

Genomic Locations for UCK2 Gene
chr1:165,827,614-165,911,618
(GRCh38/hg38)
Size:
84,005 bases
Orientation:
Plus strand
chr1:165,796,732-165,880,855
(GRCh37/hg19)
Size:
84,124 bases
Orientation:
Plus strand

Genomic View for UCK2 Gene

Genes around UCK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UCK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UCK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UCK2 Gene

Proteins for UCK2 Gene

  • Protein details for UCK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZX2-UCK2_HUMAN
    Recommended name:
    Uridine-cytidine kinase 2
    Protein Accession:
    Q9BZX2
    Secondary Accessions:
    • Q5VV91
    • Q7KZV3
    • Q92528
    • Q96KG5
    • Q9BU42

    Protein attributes for UCK2 Gene

    Size:
    261 amino acids
    Molecular mass:
    29299 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for UCK2 Gene

    Alternative splice isoforms for UCK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UCK2 Gene

Selected DME Specific Peptides for UCK2 Gene

Q9BZX2:
  • ADVIIPRG
  • SQDSFYR
  • DHPDAFD
  • VAINLIVQHIQD
  • LFEGILAFY
  • RGRDLEQ
  • HSRKEET
  • EQKAKALKGQ
  • YPADVVLFEGIL
  • LLGQNEV
  • RLSRRVLRD

Post-translational modifications for UCK2 Gene

  • Ubiquitination at Lys33, Lys54, Lys75, and Lys78
  • Modification sites at PhosphoSitePlus

Other Protein References for UCK2 Gene

Domains & Families for UCK2 Gene

Gene Families for UCK2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for UCK2 Gene

InterPro:
Blocks:
  • Uridine kinase signature
ProtoNet:

Suggested Antigen Peptide Sequences for UCK2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57922, highly similar to Uridine-cytidine kinase 2 (EC 2.7.1.48) (B4DGD3_HUMAN)
  • Uridine monophosphokinase 2 (UCK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZX2

UniProtKB/Swiss-Prot:

UCK2_HUMAN :
  • Belongs to the uridine kinase family.
Family:
  • Belongs to the uridine kinase family.
genes like me logo Genes that share domains with UCK2: view

Function for UCK2 Gene

Molecular function for UCK2 Gene

UniProtKB/Swiss-Prot Function:
Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + uridine = ADP + H(+) + UMP; Xref=Rhea:RHEA:16825, ChEBI:CHEBI:15378, ChEBI:CHEBI:16704, ChEBI:CHEBI:30616, ChEBI:CHEBI:57865, ChEBI:CHEBI:456216; EC=2.7.1.48;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + cytidine = ADP + CMP + H(+); Xref=Rhea:RHEA:24674, ChEBI:CHEBI:15378, ChEBI:CHEBI:17562, ChEBI:CHEBI:30616, ChEBI:CHEBI:60377, ChEBI:CHEBI:456216; EC=2.7.1.48;.

Enzyme Numbers (IUBMB) for UCK2 Gene

Phenotypes From GWAS Catalog for UCK2 Gene

Gene Ontology (GO) - Molecular Function for UCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004849 uridine kinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IBA 21873635
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with UCK2: view
genes like me logo Genes that share phenotypes with UCK2: view

Animal Model Products

CRISPR Products

miRNA for UCK2 Gene

miRTarBase miRNAs that target UCK2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UCK2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UCK2 Gene

Localization for UCK2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UCK2 gene
Compartment Confidence
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UCK2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UCK2 Gene

Pathways & Interactions for UCK2 Gene

genes like me logo Genes that share pathways with UCK2: view

Pathways by source for UCK2 Gene

UniProtKB/Swiss-Prot Q9BZX2-UCK2_HUMAN

  • Pathway: Pyrimidine metabolism; CTP biosynthesis via salvage pathway; CTP from cytidine: step 1/3.
  • Pathway: Pyrimidine metabolism; UMP biosynthesis via salvage pathway; UMP from uridine: step 1/1.

Gene Ontology (GO) - Biological Process for UCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009165 nucleotide biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
GO:0043097 pyrimidine nucleoside salvage TAS --
GO:0044206 UMP salvage IEA --
GO:0044211 CTP salvage IEA --
genes like me logo Genes that share ontologies with UCK2: view

No data available for SIGNOR curated interactions for UCK2 Gene

Drugs & Compounds for UCK2 Gene

(19) Drugs for UCK2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytarabine Approved, Experimental, Investigational Pharma Target 1335
Citric acid Approved, Vet_approved Nutra Activator, Agonist 1509
Cytidine monophosphate Experimental Pharma Target 0
Cytidine triphosphate Experimental Pharma Target 0
Uridine triphosphate Experimental, Investigational Pharma Target 0

(19) Additional Compounds for UCK2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Fluorouridine monophosphate
  • 5-F-UMP
  • 5-Fluorouridine monophosphate
  • 5-Fluorouridylic acid
  • Fosfluoridine
  • Fump-5'
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
2793-06-8
dcdp
  • 2'-Deoxycytidine 5'-diphosphate
  • 2'-Deoxycytidine diphosphate
  • D-1beta-Ribofuranosylcytosine diphosphate
  • Deoxycytidine diphosphate
  • 2'-Deoxycytidine 5'-diphosphoric acid
800-73-7
Deoxyuridine triphosphate
  • 2'-Deoxyuridine 5'-triphosphate
  • 2'-Deoxyuridine 5'-triphosphoric acid
  • Deoxyuridine triphosphoric acid
  • 2'-Deoxyuridine-5'-triphosphorate
  • 2'-Deoxyuridine-5'-triphosphoric acid
1173-82-6
genes like me logo Genes that share compounds with UCK2: view

Transcripts for UCK2 Gene

mRNA/cDNA for UCK2 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UCK2

Alternative Splicing Database (ASD) splice patterns (SP) for UCK2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - - -
SP2: - - - -
SP3:
SP4: - -
SP5:

Relevant External Links for UCK2 Gene

GeneLoc Exon Structure for
UCK2

Expression for UCK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UCK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UCK2 Gene

This gene is overexpressed in Bone (36.4) and Breast (28.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UCK2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UCK2

SOURCE GeneReport for Unigene cluster for UCK2 Gene:

Hs.458360

mRNA Expression by UniProt/SwissProt for UCK2 Gene:

Q9BZX2-UCK2_HUMAN
Tissue specificity: According to PubMed:8812458; testis-specific. According to PubMed:11306702, placenta-specific.

Evidence on tissue expression from TISSUES for UCK2 Gene

  • Lung(4.2)
  • Nervous system(3.7)
  • Intestine(2.1)
  • Liver(2)
genes like me logo Genes that share expression patterns with UCK2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for UCK2 Gene

Orthologs for UCK2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UCK2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UCK2 30 31
  • 99.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UCK2 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia UCK2 30 31
  • 94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UCK2 30 31
  • 93.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Uck2 30 17 31
  • 90.29 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UCK2 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Uck2 30
  • 86.59 (n)
Chicken
(Gallus gallus)
Aves UCK2 30 31
  • 83.14 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UCK2 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia uck2 30
  • 75.77 (n)
Str.7436 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.13227 30
Zebrafish
(Danio rerio)
Actinopterygii uck2b 31
  • 79 (a)
OneToMany
uck2a 30 31
  • 74.65 (n)
OneToMany
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6364 30 31
  • 63.66 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003874 30
  • 62.68 (n)
Worm
(Caenorhabditis elegans)
Secernentea B0001.4 31
  • 44 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URK1 31
  • 19 (a)
OneToMany
DAS2 33
Wheat
(Triticum aestivum)
Liliopsida Ta.11296 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6934 31
  • 55 (a)
OneToMany
Species where no ortholog for UCK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UCK2 Gene

ENSEMBL:
Gene Tree for UCK2 (if available)
TreeFam:
Gene Tree for UCK2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UCK2: view image

Paralogs for UCK2 Gene

Paralogs for UCK2 Gene

(2) SIMAP similar genes for UCK2 Gene using alignment to 2 proteins:

  • UCK2_HUMAN
  • B4DGD3_HUMAN
genes like me logo Genes that share paralogs with UCK2: view

Variants for UCK2 Gene

Additional dbSNP identifiers (rs#s) for UCK2 Gene

Structural Variations from Database of Genomic Variants (DGV) for UCK2 Gene

Variant ID Type Subtype PubMed ID
esv2719117 CNV deletion 23290073
esv2719128 CNV deletion 23290073
esv2719140 CNV deletion 23290073
esv3366243 CNV insertion 20981092
nsv437246 CNV loss 16327808
nsv517792 CNV loss 19592680
nsv548097 CNV loss 21841781
nsv818544 CNV gain 17921354

Variation tolerance for UCK2 Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UCK2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UCK2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UCK2 Gene

Disorders for UCK2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for UCK2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search UCK2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UCK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with UCK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UCK2 Gene

Publications for UCK2 Gene

  1. Phosphorylation of uridine and cytidine nucleoside analogs by two human uridine-cytidine kinases. (PMID: 11306702) Van Rompay AR … Karlsson A (Molecular pharmacology 2001) 3 4 23
  2. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung CL … Kung AW (Human molecular genetics 2009) 3 41
  3. A genome-wide association study of testicular germ cell tumor. (PMID: 19483681) Rapley EA … Stratton MR (Nature genetics 2009) 3 41
  4. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41
  5. Quantum mechanics/molecular mechanics investigation of the mechanism of phosphate transfer in human uridine-cytidine kinase 2. (PMID: 19532987) Smith AJ … Houk KN (Organic & biomolecular chemistry 2009) 3 23

Products for UCK2 Gene

Sources for UCK2 Gene