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Aliases for NT5C2 Gene

Aliases for NT5C2 Gene

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

External Ids for NT5C2 Gene

Previous HGNC Symbols for NT5C2 Gene

  • NT5B

Previous GeneCards Identifiers for NT5C2 Gene

  • GC10M103741
  • GC10M104081
  • GC10M104979
  • GC10M104512
  • GC10M104837
  • GC10M098480

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, autosomal recessive and spastic paraplegia 45. Among its related pathways are Metabolism and Abacavir transport 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

Regulatory Elements for NT5C2 Gene

Promoters for NT5C2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NT5C2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NT5C2 Gene

Chromosome:
10
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

Genes around NT5C2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NT5C2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NT5C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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

  • Ubiquitination at Lys 244 and Lys 254
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families 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 :
  • Belongs to the 5(3)-deoxyribonucleotidase family.
Family:
  • Belongs to the 5(3)-deoxyribonucleotidase family.
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:0008253 5-nucleotidase activity EXP,IEA 2848805
GO:0050146 nucleoside phosphotransferase activity TAS --
genes like me logo Genes that share ontologies with NT5C2: view
genes like me logo Genes that share phenotypes with NT5C2: view

Human Phenotype Ontology for NT5C2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NT5C2 Gene

miRTarBase miRNAs that target NT5C2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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 5
mitochondrion 2
nucleus 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for NT5C2 Gene

Pathways & Interactions 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:0017144 drug metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0046085 adenosine metabolic process IEA,IBA --
genes like me logo Genes that share ontologies with NT5C2: view

No data available for SIGNOR curated interactions for NT5C2 Gene

Drugs & Compounds for NT5C2 Gene

(18) Drugs for NT5C2 Gene - From: HMDB, DrugBank, Novoseek, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ribavirin Approved Pharma Target, inducer 948
Adenosine triphosphate Approved Nutra Target 0
Didanosine Approved Pharma 150
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 1881
Adenosine Approved, Investigational Pharma Agonist 363

(12) Additional Compounds for NT5C2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
deoxyadenosine
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-beta-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-beta-delta-Ribofuranose
  • 2'-Deoxyadenosine
  • 2-Deoxyadenosine
958-09-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenylate
  • 2'-Deoxy-5'-adenylic acid
  • 2'-Deoxy-Adenosine 5'-phosphorate
  • 2'-Deoxy-Adenosine 5'-phosphoric acid
653-63-4
deoxyguanosine
  • 2'-Deoxy-Guanosine
  • 2'-Deoxyguanosine
  • 2-Deoxyguanosine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)-Guanine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)guanine
961-07-9
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

Protein differential expression in normal tissues from HIPED for NT5C2 Gene

This gene is overexpressed in Salivary gland (15.6), Skin (7.7), and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NT5C2: view

Protein tissue co-expression partners for NT5C2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 36
  • 100 (a)
OneToOne
NT5C2 35
  • 99.7 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia NT5C2 36
  • 100 (a)
OneToOne
NT5C2 35
  • 94.17 (n)
  • 99.64 (a)
dog
(Canis familiaris)
Mammalia NT5C2 35
  • 94.47 (n)
  • 99.29 (a)
NT5C2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nt5c2 36
  • 95 (a)
OneToOne
Nt5c2 16
Nt5c2 35
  • 91.37 (n)
  • 99.46 (a)
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 nt5c2b 35
  • 77.45 (n)
  • 89.76 (a)
wufc45b10 35
nt5c2a 36
  • 90 (a)
OneToMany
nt5c2b 36
  • 90 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000380 35
  • 59.45 (n)
  • 65.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32549 36
  • 48 (a)
OneToMany
CG32549 35
  • 58.53 (n)
  • 61.37 (a)
worm
(Caenorhabditis elegans)
Secernentea Y71H10B.1a 37
  • 51 (a)
Y71H10B.1b 37
  • 51 (a)
Y71H10B.1 36
  • 41 (a)
OneToMany
Y71H10B.1 35
  • 55.22 (n)
  • 52.74 (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

(1) 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
rs10883841 - 103,174,952(+) GGAGG(C/T)TGACA reference, missense, utr-variant-5-prime
VAR_030242 -
rs8139 -- 103,088,366(-) ATCAC(C/T)TCTTG utr-variant-3-prime
rs1141095 -- 103,193,250(-) GTTGC(C/G)GTGCG utr-variant-5-prime
rs1141096 -- 103,139,477(-) TCGGG(A/T)GTTTG intron-variant, reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv7528 CNV Loss 18451855

Variation tolerance for NT5C2 Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.14% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(11) MalaCards diseases for NT5C2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 45, autosomal recessive
  • spg45
spastic paraplegia 45
  • spastic paraplegia 45, autosomal recessive
interstitial lung and liver disease
  • infantile liver failure syndrome 2
spastic paraplegia 75
  • spg75
sphenoid sinusitis
  • sphenoidal sinusitis
- elite association - COSMIC cancer census association via MalaCards
Search NT5C2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for NT5C2

Genetic Association Database (GAD)
NT5C2
Human Genome Epidemiology (HuGE) Navigator
NT5C2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NT5C2
genes like me logo Genes that share disorders with NT5C2: view

No data available for Genatlas for NT5C2 Gene

Publications for NT5C2 Gene

  1. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3 4 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. cN-II expression predicts survival in patients receiving gemcitabine for advanced non-small cell lung cancer. (PMID: 15923058) SA"ve P. … Dumontet C. (Lung Cancer 2005) 3 23
  5. Molecular cloning of human cytosolic purine 5'-nucleotidase. (PMID: 7999131) Oka J. … Inoue S. (Biochem. Biophys. Res. Commun. 1994) 2 3

Products for NT5C2 Gene

Sources for NT5C2 Gene

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