Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NT5C2 Gene

Aliases for NT5C2 Gene

  • 5'-Nucleotidase, Cytosolic II 2
  • NT5B 3 4 6
  • PNT5 3 4 6
  • 5-Nucleotidase (Purine), Cytosolic Type B 2 3
  • 5-Nucleotidase, Cytosolic II 2 3
  • Cytosolic 5-Nucleotidase II 3 4
  • Purine 5 Nucleotidase 2 3
  • EC 3.1.3.5 4 63
  • SPG45 3 6
  • Cytosolic Purine 5-Nucleotidase 3
  • IMP-Specific 5-NT 3
  • EC 3.1.3 63
  • SPG65 3
  • CN-II 3
  • NT5CP 4
  • GMP 3

External Ids for NT5C2 Gene

Previous Symbols for NT5C2 Gene

  • NT5B

Summaries for NT5C2 Gene

Entrez Gene Summary for NT5C2 Gene

  • This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]

GeneCards Summary for NT5C2 Gene

NT5C2 (5'-Nucleotidase, Cytosolic II) is a Protein Coding gene. Diseases associated with NT5C2 include spastic paraplegia 45 and orbital cellulitis. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include nucleotide binding and nucleoside phosphotransferase activity. An important paralog of this gene is NT5DC1.

UniProtKB/Swiss-Prot for NT5C2 Gene

  • May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5-monophosphate (IMP) and other purine nucleotides

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NT5C2 Gene

Genomics for NT5C2 Gene

Genomic Location for NT5C2 Gene

Start:
103,088,017 bp from pter
End:
103,193,306 bp from pter
Size:
105,290 bases
Orientation:
Minus strand

Genomic View for NT5C2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NT5C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NT5C2 Gene

Regulatory Elements for NT5C2 Gene

Proteins for NT5C2 Gene

  • Protein details for NT5C2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49902-5NTC_HUMAN
    Recommended name:
    Cytosolic purine 5-nucleotidase
    Protein Accession:
    P49902
    Secondary Accessions:
    • B7Z382
    • D3DR91
    • Q5JUV5

    Protein attributes for NT5C2 Gene

    Size:
    561 amino acids
    Molecular mass:
    64970 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for NT5C2 Gene

    Alternative splice isoforms for NT5C2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NT5C2 Gene

Proteomics data for NT5C2 Gene at MOPED

Post-translational modifications for NT5C2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys244 and Lys254

Other Protein References for NT5C2 Gene

Domains for NT5C2 Gene

Gene Families for NT5C2 Gene

Protein Domains for NT5C2 Gene

Graphical View of Domain Structure for InterPro Entry

P49902

UniProtKB/Swiss-Prot:

5NTC_HUMAN
Family:
  • Belongs to the 5(3)-deoxyribonucleotidase family.:
    • P49902
genes like me logo Genes that share domains with NT5C2: view

Function for NT5C2 Gene

Molecular function for NT5C2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: A 5-ribonucleotide + H(2)O = a ribonucleoside + phosphate
UniProtKB/Swiss-Prot EnzymeRegulation: Allosterically activated by various compounds, including ATP
UniProtKB/Swiss-Prot Function: May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5-monophosphate (IMP) and other purine nucleotides

Enzyme Numbers (IUBMB) for NT5C2 Gene

Gene Ontology (GO) - Molecular Function for NT5C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0008253 5-nucleotidase activity EXP --
GO:0046872 metal ion binding IEA --
GO:0050146 nucleoside phosphotransferase activity TAS --
genes like me logo Genes that share ontologies with NT5C2: view

miRNA for NT5C2 Gene

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for NT5C2 Gene

Localization for NT5C2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NT5C2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NT5C2 Gene COMPARTMENTS Subcellular localization image for NT5C2 gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NT5C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NT5C2: view

Pathways for NT5C2 Gene

genes like me logo Genes that share pathways with NT5C2: view

Gene Ontology (GO) - Biological Process for NT5C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006144 purine nucleobase metabolic process TAS --
GO:0006195 purine nucleotide catabolic process TAS --
GO:0008219 cell death --
GO:0016310 phosphorylation TAS --
GO:0016311 dephosphorylation TAS 7999131
genes like me logo Genes that share ontologies with NT5C2: view

Compounds for NT5C2 Gene

(27) HMDB Compounds for NT5C2 Gene

Compound Synonyms Cas Number PubMed IDs
2'-Deoxyguanosine 5'-monophosphate
  • 2'-Deoxy-5'-GMP
902-04-5
5-Thymidylic acid
  • 2'-Deoxythymidine 5'-monophosphate
365-07-1
Adenosine
  • 1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
58-61-7
Adenosine monophosphate
  • 5'-AMP
61-19-8
Cytidine
  • 1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine
65-46-3

(2) Drugbank Compounds for NT5C2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine triphosphate
  • 5'-ATP
56-65-5 target
Ribavirin
  • RBV
36791-04-5 target inducer

(1) Novoseek inferred chemical compound relationships for NT5C2 Gene

Compound -log(P) Hits PubMed IDs
inosine 69.6 4

(2) PharmGKB related drug/compound annotations for NT5C2 Gene

Drug/compound Annotation
didanosine CA
gemcitabine CA
genes like me logo Genes that share compounds with NT5C2: view

Transcripts for NT5C2 Gene

Unigene Clusters for NT5C2 Gene

5-nucleotidase, cytosolic II:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NT5C2 Gene

No ASD Table

Relevant External Links for NT5C2 Gene

GeneLoc Exon Structure for
NT5C2
ECgene alternative splicing isoforms for
NT5C2

Expression for NT5C2 Gene

mRNA expression in normal human tissues for NT5C2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NT5C2 Gene

SOURCE GeneReport for Unigene cluster for NT5C2 Gene Hs.97439

genes like me logo Genes that share expressions with NT5C2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NT5C2 Gene

Orthologs for NT5C2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NT5C2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NT5C2 35
  • 99.7 (n)
  • 100 (a)
NT5C2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NT5C2 35
  • 94.17 (n)
  • 99.64 (a)
NT5C2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NT5C2 35
  • 94.47 (n)
  • 99.29 (a)
NT5C2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nt5c2 35
  • 91.37 (n)
  • 99.46 (a)
Nt5c2 16
Nt5c2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NT5C2 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NT5C2 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100363253 35
  • 91.19 (n)
  • 99.29 (a)
chicken
(Gallus gallus)
Aves NT5C2 35
  • 83.21 (n)
  • 95.26 (a)
NT5C2 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NT5C2 36
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9923 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nt5c2 35
  • 79.88 (n)
  • 93.45 (a)
zebrafish
(Danio rerio)
Actinopterygii nt5c2a 36
  • 90 (a)
OneToMany
nt5c2b 35
  • 77.45 (n)
  • 89.76 (a)
nt5c2b 36
  • 90 (a)
OneToMany
wufc45b10 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000380 35
  • 59.45 (n)
  • 65.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32549 35
  • 58.53 (n)
  • 61.37 (a)
CG32549 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71H10B.1 35
  • 55.22 (n)
  • 52.74 (a)
Y71H10B.1 36
  • 41 (a)
OneToMany
Y71H10B.1a 37
  • 51 (a)
Y71H10B.1b 37
  • 51 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G75210 35
  • 47.81 (n)
  • 37.78 (a)
rice
(Oryza sativa)
Liliopsida Os03g0774300 35
  • 46.64 (n)
  • 37.54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1884 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9662 36
  • 59 (a)
OneToMany
Species with no ortholog for NT5C2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NT5C2 Gene

ENSEMBL:
Gene Tree for NT5C2 (if available)
TreeFam:
Gene Tree for NT5C2 (if available)

Paralogs for NT5C2 Gene

Paralogs for NT5C2 Gene

Selected SIMAP similar genes for NT5C2 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for NT5C2 Gene

genes like me logo Genes that share paralogs with NT5C2: view

Variants for NT5C2 Gene

Sequence variations from dbSNP and Humsavar for NT5C2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs8139 -- 103,088,366(-) ATCAC(C/T)TCTTG utr-variant-3-prime
rs732998 -- 103,138,144(-) ACTCC(A/G)TGACA intron-variant
rs746293 -- 103,137,497(+) TTCGT(G/T)TTTGA intron-variant
rs1055811 -- 103,174,953(-) ATGTC(A/G)ACCTC reference, synonymous-codon, utr-variant-5-prime
rs1055812 -- 103,089,869(-) TAGAT(A/T)TCAAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NT5C2 Gene

Variant ID Type Subtype PubMed ID
nsv7528 CNV Loss 18451855

Relevant External Links for NT5C2 Gene

HapMap Linkage Disequilibrium report
NT5C2
Human Gene Mutation Database (HGMD)
NT5C2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NT5C2 Gene

Disorders for NT5C2 Gene

(1) OMIM Diseases for NT5C2 Gene (600417)

UniProtKB/Swiss-Prot

5NTC_HUMAN
  • Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest mental retardation, contractures and learning disability. {ECO:0000269 PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for NT5C2 Gene

Relevant External Links for NT5C2

Genetic Association Database (GAD)
NT5C2
Human Genome Epidemiology (HuGE) Navigator
NT5C2
genes like me logo Genes that share disorders with NT5C2: view

Publications for NT5C2 Gene

  1. Molecular cloning of human cytosolic purine 5'-nucleotidase. (PMID: 7999131) Oka J. … Inoue S. (Biochem. Biophys. Res. Commun. 1994) 2 3 4
  2. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3 4
  3. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. (PMID: 21572416) Kato N. … He J. (Nat. Genet. 2011) 3 48
  4. Crystal structure of human cytosolic 5'-nucleotidase II: insights into allosteric regulation and substrate recognition. (PMID: 17405878) Wallden K. … Nordlund P. (J. Biol. Chem. 2007) 3 4
  5. Genome-wide association study identifies eight loci associated with blood pressure. (PMID: 19430483) Newton-Cheh C. … Munroe P.B. (Nat. Genet. 2009) 3 48

Products for NT5C2 Gene

Sources for NT5C2 Gene

Back to Top

Content