Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22978
Gene name Gene Name - the full gene name approved by the HGNC.
5'-nucleotidase, cytosolic II
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NT5C2
Synonyms (NCBI Gene) Gene synonyms aliases
GMP, NT5B, PNT5, SPG45, SPG65, cN-II
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.32-q24.33
Summary Summary of gene provided in NCBI Entrez 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]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs11598702 T>C,G Drug-response Intron variant, genic upstream transcript variant, upstream transcript variant
rs587777173 G>A Pathogenic Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs587777174 T>A Pathogenic Coding sequence variant, intron variant, stop gained, 5 prime UTR variant
rs763305896 GT>- Pathogenic Coding sequence variant, 5 prime UTR variant, frameshift variant
rs886037656 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020065 hsa-miR-375 Microarray 20215506
MIRT025290 hsa-miR-34a-5p Proteomics 21566225
MIRT025290 hsa-miR-34a-5p Proteomics 21566225
MIRT025290 hsa-miR-34a-5p Proteomics 21566225
MIRT031022 hsa-miR-21-5p Microarray 18591254
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000255 Process Allantoin metabolic process IDA 21873433
GO:0000255 Process Allantoin metabolic process IEA
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 16189514, 19060904, 25416956, 28514442, 32296183, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600417 8022 ENSG00000076685
Protein
UniProt ID P49902
Protein name Cytosolic purine 5'-nucleotidase (EC 3.1.3.5) (EC 3.1.3.99) (Cytosolic 5'-nucleotidase II) (cN-II) (Cytosolic IMP/GMP-specific 5'-nucleotidase) (Cytosolic nucleoside phosphotransferase 5'N) (EC 2.7.1.77) (High Km 5'-nucleotidase)
Protein function Broad specificity cytosolic 5'-nucleotidase that catalyzes the dephosphorylation of 6-hydroxypurine nucleoside 5'-monophosphates (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705). In addition, possesses a phosphotransferase acti
PDB 2J2C , 2JC9 , 2JCM , 2XCV , 2XCW , 2XCX , 2XJB , 2XJC , 2XJD , 2XJE , 2XJF , 4H4B , 5CQZ , 5CR7 , 5K7Y , 5L4Z , 5L50 , 5OPK , 5OPL , 5OPM , 5OPN , 5OPO , 5OPP , 6DD3 , 6DDB , 6DDC , 6DDH , 6DDK , 6DDL , 6DDO , 6DDQ , 6DDX , 6DDY , 6DDZ , 6DE0 , 6DE1 , 6DE2 , 6DE3 , 6FIR , 6FIS , 6FIU , 6FIW , 6FXH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05761 5_nucleotid 35 489 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9371705}.
Sequence
Sequence length 561
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 45 rs886037656, rs886037657, rs587777174, rs886037658, rs763305896, rs1430860231, rs764453448, rs769873284, rs587777173 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cerebral Aneurysm Cerebral aneurysm N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes, Type 2 diabetes or schizophrenia (pleiotropy) N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension, Hypertension N/A N/A GWAS