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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]
This gene, when mutated to be over-active, has been linked to chemotherapy resistance in relapsed T-cell Acute Lymphoblastic Leukemia.
NT5C2 (5'-Nucleotidase, Cytosolic II) is a Protein Coding gene. Diseases associated with NT5C2 include Spastic Paraplegia 45, Autosomal Recessive and Paraplegia. Among its related pathways are Abacavir transport and metabolism and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include nucleotide binding and nucleoside phosphotransferase activity. An important paralog of this gene is NT5DC4.
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 | 21873635 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of nucleotides | ||
2 | Metabolism |
.40
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3 | NAD metabolism |
NAD metabolism
.53
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4 | Abacavir transport and metabolism | ||
5 | Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics |
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:0016311 | dephosphorylation | IEA | -- |
GO:0017144 | drug metabolic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ribavirin | Approved | Pharma | Enzyme, modulator | 1068 | ||
Didanosine | Approved | Pharma | 152 | |||
Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2451 | ||
Adenosine | Approved, Investigational | Pharma | Agonist, Channel blocker | 619 | ||
Cytarabine | Approved, Experimental, Investigational | Pharma | 1335 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
beta-nicotinamide D-ribonucleotide |
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deoxyadenosine |
|
958-09-8 |
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Deoxyadenosine monophosphate |
|
653-63-4 |
|
|||
deoxyguanosine |
|
961-07-9 |
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nicotinate beta-D-ribonucleotide |
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|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NT5C2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NT5C2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NT5C2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NT5C2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nt5c2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC100363253 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NT5C2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NT5C2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NT5C2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nt5c2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.9923 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nt5c2a 31 |
|
OneToMany | |
nt5c2b 30 31 |
|
OneToMany | |||
wufc45b10 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000380 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG32549 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y71H10B.1 30 31 |
|
OneToMany | |
Y71H10B.1a 32 |
|
|
|||
Y71H10B.1b 32 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G75210 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0774300 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9662 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1884 30 |
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
375572 | Pathogenic: Spastic paraplegia 45, autosomal recessive | 103,094,752(-) | GGCGCCTGTAGTCCCA | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
643613 | Uncertain Significance: Spastic paraplegia 45, autosomal recessive | 103,093,159(-) | T/C | MISSENSE_VARIANT | |
647147 | Uncertain Significance: Spastic paraplegia 45, autosomal recessive | 103,174,915(-) | A/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
657035 | Uncertain Significance: Spastic paraplegia 45, autosomal recessive | 103,093,208(-) | G/C | MISSENSE_VARIANT | |
658793 | Uncertain Significance: Spastic paraplegia 45, autosomal recessive | 103,089,891(-) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3624406 | CNV | gain | 21293372 |
esv3624407 | CNV | loss | 21293372 |
nsv7528 | CNV | deletion | 18451855 |
nsv948173 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 45, autosomal recessive |
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paraplegia |
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paranasal sinus lymphoma |
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abducens nerve disease |
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sphenoid sinusitis |
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