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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 61
  • NT5B 3 4
  • PNT5 3 4
  • Cytosolic Purine 5-Nucleotidase 3
  • Cytosolic 5-Nucleotidase II 4
  • Purine 5 Nucleotidase 2
  • IMP-Specific 5-NT 3
  • EC 3.1.3 61
  • 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]

CIViC summary for NT5C2 Gene

  • This gene, when mutated to be over-active, has been linked to chemotherapy resistance in relapsed T-cell Acute Lymphoblastic Leukemia.

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 NAD metabolism and Purine metabolism (REACTOME). GO annotations related to this gene include nucleotide binding and nucleoside phosphotransferase activity. An important paralog of this gene is NT5DC4.

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

Enhancers for NT5C2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G103237 1.6 FANTOM5 Ensembl ENCODE 19.8 -47.1 -47063 5.0 PKNOX1 ARID4B SIN3A BRCA1 ZNF48 ZNF121 FOS DEK ZNF263 REST BORCS7 NT5C2 AS3MT INA CNNM2 PFN1P11 PTGES3P4 CYP17A1 RNU11-3P ARL3
GH10G103151 1.4 Ensembl ENCODE dbSUPER 12.3 +39.1 39142 4.4 ELF3 FOXA2 ARID4B DMAP1 ZEB1 RARA SCRT2 RCOR1 CREM MIXL1 AS3MT NT5C2 MARCKSL1P1 RNU11-3P PIR33793
GH10G103196 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.1 -4.2 -4233 2.1 HDGF PKNOX1 ATF1 YY1 TCF12 ELK1 FOS JUNB NCOA1 ZNF592 AS3MT MARCKSL1P1 BORCS7 NT5C2 ST13P13
GH10G102794 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.9 +397.0 397006 3.4 MXI1 USF1 TAF1 WRNIP1 MAX RAD21 YY1 ZNF316 POLR2A MAFK BORCS7 SFXN2 AS3MT NFKB2 NT5C2 C10orf95 RNU6-1231P GC10P102744 GC10P102745
GH10G103190 1.7 FANTOM5 ENCODE dbSUPER 5 +1.0 966 4.5 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 MXD4 AS3MT MARCKSL1P1 BORCS7 NT5C2 SFXN2 WBP1L GC10P103194 GC10P103176
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NT5C2 on UCSC Golden Path with GeneCards custom track

Promoters for NT5C2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032850 806 2201 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 MXD4 NFYC

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

Selected DME Specific Peptides for NT5C2 Gene

P49902:
  • LTRSISEIKPPNLFP
  • YFDLILVDARKPLFFGEGTVLRQVDT
  • EVGKVFL
  • TSWSDRLQNAAD
  • GFKDGDLFMS
  • KLPLLLSRM
  • KKVTHDMDMCYGMMGSLFRSGSRQTLFASQVMRYADLYA
  • RFYILNTLFNLPETYLLACLVDFFTNC
  • FGFDMDYTLAVY
  • TGKLKIGTYTGPLQHGIVYSGGSSD
  • PHGPKPGSSHR
  • LVCAHGFNF
  • LYIGDHIF
  • ATRNRTSVDFKD
  • LTVERLVSIGYP
  • TVERLVS
  • RSMFQDVRDAVDWVHYKGSLKEKT
  • QYPNKFIQRDDT
  • KVDAYGN
  • TNSDYKYT
  • KIMTYLFD

Post-translational modifications for NT5C2 Gene

  • Ubiquitination at posLast=244244 and Lys254
  • Modification sites at PhosphoSitePlus

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:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0008253 5-nucleotidase activity TAS,IBA --
GO:0016787 hydrolase activity IEA --
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

CRISPR Products

miRNA for NT5C2 Gene

miRTarBase miRNAs that target NT5C2

Inhibitory RNA 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
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 NT5C2 gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NT5C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NT5C2: view

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:0006195 purine nucleotide catabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0009117 nucleotide metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0016311 dephosphorylation IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ribavirin Approved Pharma Target, inducer 1003
Adenosine triphosphate Approved Nutra Target 0
Didanosine Approved Pharma 150
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2018
Adenosine Approved, Investigational Pharma Agonist 419

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
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
Nicotinamide riboside
  • 1-(beta-D-Ribofuranosyl)nicotinamide
  • 1-b-D-Ribosyl-3-Pyridinecarboxamide
  • 1-beta-D-Ribosyl-3-Pyridinecarboxamide
  • 1-beta-delta-Ribosyl-3-Pyridinecarboxamide
  • 3-(Aminocarbonyl)-1-beta-D-ribofuranosyl-Pyridinium
1341-23-7
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NT5C2 Gene



Protein tissue co-expression partners for NT5C2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NT5C2 Gene:

NT5C2

SOURCE GeneReport for Unigene cluster for NT5C2 Gene:

Hs.97439

Evidence on tissue expression from TISSUES for NT5C2 Gene

  • Nervous system(5)
  • Blood(2.4)
  • Bone marrow(2.1)
  • Kidney(2.1)
  • Thyroid gland(2.1)
  • Heart(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NT5C2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with NT5C2: view

Primer 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 34 35
  • 99.7 (n)
oppossum
(Monodelphis domestica)
Mammalia NT5C2 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NT5C2 34 35
  • 94.47 (n)
cow
(Bos Taurus)
Mammalia NT5C2 34 35
  • 94.17 (n)
mouse
(Mus musculus)
Mammalia Nt5c2 34 16 35
  • 91.37 (n)
rat
(Rattus norvegicus)
Mammalia LOC100363253 34
  • 91.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NT5C2 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves NT5C2 34 35
  • 83.21 (n)
lizard
(Anolis carolinensis)
Reptilia NT5C2 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nt5c2 34
  • 79.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9923 34
zebrafish
(Danio rerio)
Actinopterygii nt5c2a 35
  • 90 (a)
OneToMany
nt5c2b 34 35
  • 77.45 (n)
wufc45b10 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000380 34
  • 59.45 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32549 34 35
  • 58.53 (n)
worm
(Caenorhabditis elegans)
Secernentea Y71H10B.1 34 35
  • 55.22 (n)
Y71H10B.1a 36
  • 51 (a)
Y71H10B.1b 36
  • 51 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G75210 34
  • 47.81 (n)
rice
(Oryza sativa)
Liliopsida Os03g0774300 34
  • 46.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9662 35
  • 59 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1884 34
Species where no ortholog for NT5C2 was found in the sources mined by GeneCards:
  • 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
rs11598702 drug-response 103,138,228(+) TACCC(C/G/T)AGGTA intron-variant, upstream-variant-2KB
rs587777173 Pathogenic 103,174,874(+) TTCTC(A/G)ACGAT reference, stop-gained, utr-variant-5-prime
rs587777174 Pathogenic 103,101,271(+) AAATC(A/T)TTCAG intron-variant, reference, stop-gained, utr-variant-5-prime
rs886037656 Pathogenic 103,090,983(-) ACAGC(-/A)GTAGC reference, frameshift-variant
rs886037657 Pathogenic 103,093,310(-) GTTCA(G/T)GTTCT intron-variant, splice-acceptor-variant

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

Variant ID Type Subtype PubMed ID
esv3624406 CNV gain 21293372
esv3624407 CNV loss 21293372
nsv7528 CNV deletion 18451855
nsv948173 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
NT5C2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NT5C2

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

Disorders for NT5C2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spastic paraplegia 45, autosomal recessive
  • hereditary spastic paraplegia 45
spastic paraplegia 45
  • spastic paraplegia 45, autosomal recessive
sphenoid sinusitis
  • sphenoidal sinusitis
acute orbital inflammation
  • acute inflammation of orbit
orbital cellulitis
- 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 64
  2. Molecular cloning of human cytosolic purine 5'-nucleotidase. (PMID: 7999131) Oka J. … Inoue S. (Biochem. Biophys. Res. Commun. 1994) 2 3 4 64
  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 46 64
  4. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain L.V. … van Duijn C.M. (Nat. Genet. 2011) 3 46 64
  5. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (PMID: 21909115) . … Johnson T. (Nature 2011) 3 46 64

Products for NT5C2 Gene

Sources for NT5C2 Gene

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