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NT5C2 5'-nucleotidase, cytosolic II [ Homo sapiens (human) ]

Gene ID: 22978, updated on 14-Jun-2018
Official Symbol
NT5C2provided by HGNC
Official Full Name
5'-nucleotidase, cytosolic IIprovided by HGNC
Primary source
HGNC:HGNC:8022
See related
Ensembl:ENSG00000076685 MIM:600417; Vega:OTTHUMG00000018981
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GMP; NT5B; PNT5; SPG45; SPG65; cN-II
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 20.3), esophagus (RPKM 12.5) and 25 other tissues See more
Orthologs
See NT5C2 in Genome Data Viewer
Location:
10q24.32-q24.33
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (103088017..103193306, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104847774..104953063, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BORCS7-ASMT readthrough (NMD candidate) Neighboring gene translation initiation factor IF-2-like Neighboring gene arsenite methyltransferase Neighboring gene ribosomal protein L22 pseudogene 17 Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 2 Neighboring gene ribosomal protein S15a pseudogene 29 Neighboring gene MARCKS like 1 pseudogene 1 Neighboring gene ST13, Hsp70 interacting protein pseudogene 13 Neighboring gene ribulose-5-phosphate-3-epimerase like 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Spastic paraplegia 45, autosomal recessive
MedGen: C3888209 OMIM: 613162 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A comprehensive family-based replication study of schizophrenia genes.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association study identifies eight loci associated with blood pressure.
NHGRI GWA Catalog
Genome-wide association study identifies five new schizophrenia loci.
NHGRI GWA Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
NHGRI GWA Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
NHGRI GWA Catalog
Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.
NHGRI GWA Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
NHGRI GWA Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of 5'-nucleotidase, cytosolic II (NT5C2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-nucleotidase activity EXP
Inferred from Experiment
more info
PubMed 
5'-nucleotidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleoside phosphotransferase activity TAS
Traceable Author Statement
more info
 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
IMP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenosine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
drug metabolic process TAS
Traceable Author Statement
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
purine nucleotide catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
cytosolic purine 5'-nucleotidase
Names
5'-nucleotidase (purine), cytosolic type B
IMP-specific 5'-NT
NP_001127845.1
NP_001338098.1
NP_001338099.1
NP_001338100.1
NP_001338101.1
NP_001338102.1
NP_001338103.1
NP_001338104.1
NP_001338105.1
NP_001338106.1
NP_001338107.1
NP_001338108.1
NP_001338109.1
NP_001338110.1
NP_001338111.1
NP_001338112.1
NP_001338113.1
NP_001338114.1
NP_001338115.1
NP_001338116.1
NP_001338117.1
NP_001338118.1
NP_001338119.1
NP_001338120.1
NP_001338121.1
NP_001338122.1
NP_001338123.1
NP_001338124.1
NP_001338125.1
NP_001338126.1
NP_036361.1
XP_005269694.1
XP_005269702.1
XP_005269703.1
XP_006717784.1
XP_006717786.1
XP_011537839.1
XP_016871436.1
XP_016871455.1
XP_016871456.1
XP_016871463.1
XP_024303669.1
XP_024303670.1
XP_024303671.1
XP_024303672.1
XP_024303673.1
XP_024303675.1
XP_024303676.1
XP_024303677.1
XP_024303678.1
XP_024303679.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042272.1 RefSeqGene

    Range
    5001..110290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134373.2NP_001127845.1  cytosolic purine 5'-nucleotidase isoform 1

    See identical proteins and their annotated locations for NP_001127845.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein (isoform 1).
    Source sequence(s)
    AK291667, BC001595, BU618027, DB169780
    Consensus CDS
    CCDS7544.1
    UniProtKB/Swiss-Prot
    P49902
    UniProtKB/TrEMBL
    A8K6K2
    Related
    ENSP00000339479.5, ENST00000343289.9
    Conserved Domains (1) summary
    pfam05761
    Location:43488
    5_nucleotid; 5' nucleotidase family
  2. NM_001351169.1NP_001338098.1  cytosolic purine 5'-nucleotidase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein (isoform 1).
    Source sequence(s)
    AK291667, BC001595, BU618027, DB164777, DB169780
    Consensus CDS
    CCDS7544.1
    Conserved Domains (1) summary
    pfam05761
    Location:43488
    5_nucleotid; 5' nucleotidase family
  3. NM_001351170.1NP_001338099.1  cytosolic purine 5'-nucleotidase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DB077941, DB169780
    Conserved Domains (1) summary
    pfam05761
    Location:43496
    5_nucleotid; 5' nucleotidase family
  4. NM_001351171.1NP_001338100.1  cytosolic purine 5'-nucleotidase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BP241199, BU618027, DB077941, DB169780
    Conserved Domains (1) summary
    pfam05761
    Location:43496
    5_nucleotid; 5' nucleotidase family
  5. NM_001351172.1NP_001338101.1  cytosolic purine 5'-nucleotidase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DB077941, DB164777, DB169780
    Conserved Domains (1) summary
    pfam05761
    Location:43496
    5_nucleotid; 5' nucleotidase family
  6. NM_001351173.1NP_001338102.1  cytosolic purine 5'-nucleotidase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, BU622015, DB077941, DB164777
    Conserved Domains (1) summary
    pfam05761
    Location:43496
    5_nucleotid; 5' nucleotidase family
  7. NM_001351174.1NP_001338103.1  cytosolic purine 5'-nucleotidase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK295593, BC001595, BU618027, DC348363
    Conserved Domains (1) summary
    pfam05761
    Location:14459
    5_nucleotid; 5' nucleotidase family
  8. NM_001351175.1NP_001338104.1  cytosolic purine 5'-nucleotidase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK291667, AL360001, BC001595, BU618027, DB164777, DB169780
    Conserved Domains (1) summary
    pfam05761
    Location:27457
    5_nucleotid; 5' nucleotidase family
  9. NM_001351176.1NP_001338105.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DA724300, DB169780
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  10. NM_001351177.1NP_001338106.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DA201591, DB169780
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  11. NM_001351178.1NP_001338107.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DA343552, DA408606, DB169780
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  12. NM_001351179.1NP_001338108.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BE936228, BU618027, BU622015, BX648078, DA215274
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  13. NM_001351180.1NP_001338109.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, AL040624, BC001595, BU618027, BX648078, DA493263, DB169780, DB178099
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  14. NM_001351181.1NP_001338110.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DB127914, DB169780, DB443441
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  15. NM_001351182.1NP_001338111.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BE936228, BU618027, BX648078, DA184708, DA724300, DB169780
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  16. NM_001351183.1NP_001338112.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DA208418, DB169780, DB178099, DB261846
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  17. NM_001351184.1NP_001338113.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BE936228, BU618027, BX648078, DA724300, DB169780
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  18. NM_001351185.1NP_001338114.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BE936228, BU618027, BX648078, DA724300, DB169780
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  19. NM_001351186.1NP_001338115.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BE936228, BU618027, BX648078, DA223605, DA724300, DB169780
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  20. NM_001351187.1NP_001338116.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BE936228, BU618027, BX648078, DA223605, DA408606, DA724300, DB169780
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  21. NM_001351188.1NP_001338117.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BE936228, BU618027, BX648078, DA335453, DB169780
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  22. NM_001351189.1NP_001338118.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BE936228, BU618027, BU622015, BX648078, DA746739, DB178099, DB261846
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  23. NM_001351190.1NP_001338119.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, BU622015, BX648078, DB178099, DB261846, DB287849
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  24. NM_001351191.1NP_001338120.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DA201591, DB127914, DC348363
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  25. NM_001351192.1NP_001338121.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DB097637, DB127914, DC348363
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  26. NM_001351193.1NP_001338122.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BP212875, BU618027, DB097637, DB127914, DC348363
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  27. NM_001351194.1NP_001338123.1  cytosolic purine 5'-nucleotidase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DA208418, DB169780, DB178099, DB261846
    Conserved Domains (1) summary
    cl17687
    Location:1250
    5_nucleotid; 5' nucleotidase family
  28. NM_001351195.1NP_001338124.1  cytosolic purine 5'-nucleotidase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DA184708, DA208418, DB169780, DB178099, DB261846
    Conserved Domains (1) summary
    cl17687
    Location:1250
    5_nucleotid; 5' nucleotidase family
  29. NM_001351196.1NP_001338125.1  cytosolic purine 5'-nucleotidase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DA208418, DA223605, DB169780, DB178099, DB261846
    Conserved Domains (1) summary
    cl17687
    Location:1250
    5_nucleotid; 5' nucleotidase family
  30. NM_001351197.1NP_001338126.1  cytosolic purine 5'-nucleotidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK291667, BC001595, BU618027, DA408606, DA724300, DB169780
    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  31. NM_012229.4NP_036361.1  cytosolic purine 5'-nucleotidase isoform 1

    See identical proteins and their annotated locations for NP_036361.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1-3 encode the same protein (isoform 1).
    Source sequence(s)
    BC001595, BU618027, DA879821, DB169780
    Consensus CDS
    CCDS7544.1
    UniProtKB/Swiss-Prot
    P49902
    Conserved Domains (1) summary
    pfam05761
    Location:43488
    5_nucleotid; 5' nucleotidase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    103088017..103193306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447910.1XP_024303678.1  cytosolic purine 5'-nucleotidase isoform X9

    Conserved Domains (1) summary
    cl17687
    Location:1250
    5_nucleotid; 5' nucleotidase family
  2. XM_017015966.1XP_016871455.1  cytosolic purine 5'-nucleotidase isoform X7

    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  3. XM_005269646.4XP_005269703.1  cytosolic purine 5'-nucleotidase isoform X7

    See identical proteins and their annotated locations for XP_005269703.1

    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  4. XM_006717723.3XP_006717786.1  cytosolic purine 5'-nucleotidase isoform X7

    See identical proteins and their annotated locations for XP_006717786.1

    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  5. XM_017015967.1XP_016871456.1  cytosolic purine 5'-nucleotidase isoform X7

    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  6. XM_005269645.4XP_005269702.1  cytosolic purine 5'-nucleotidase isoform X7

    See identical proteins and their annotated locations for XP_005269702.1

    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  7. XM_024447905.1XP_024303673.1  cytosolic purine 5'-nucleotidase isoform X8

    Conserved Domains (1) summary
    cl17687
    Location:15272
    5_nucleotid; 5' nucleotidase family
  8. XM_006717721.3XP_006717784.1  cytosolic purine 5'-nucleotidase isoform X7

    See identical proteins and their annotated locations for XP_006717784.1

    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  9. XM_017015974.1XP_016871463.1  cytosolic purine 5'-nucleotidase isoform X9

    Conserved Domains (1) summary
    cl17687
    Location:1250
    5_nucleotid; 5' nucleotidase family
  10. XM_024447911.1XP_024303679.1  cytosolic purine 5'-nucleotidase isoform X8

    Conserved Domains (1) summary
    cl17687
    Location:15272
    5_nucleotid; 5' nucleotidase family
  11. XM_024447908.1XP_024303676.1  cytosolic purine 5'-nucleotidase isoform X8

    Conserved Domains (1) summary
    cl17687
    Location:15272
    5_nucleotid; 5' nucleotidase family
  12. XM_024447909.1XP_024303677.1  cytosolic purine 5'-nucleotidase isoform X9

    Conserved Domains (1) summary
    cl17687
    Location:1250
    5_nucleotid; 5' nucleotidase family
  13. XM_024447907.1XP_024303675.1  cytosolic purine 5'-nucleotidase isoform X8

    Conserved Domains (1) summary
    cl17687
    Location:15272
    5_nucleotid; 5' nucleotidase family
  14. XM_011539537.2XP_011537839.1  cytosolic purine 5'-nucleotidase isoform X6

    Conserved Domains (1) summary
    pfam05761
    Location:43439
    5_nucleotid; 5' nucleotidase family
  15. XM_024447904.1XP_024303672.1  cytosolic purine 5'-nucleotidase isoform X7

    Conserved Domains (1) summary
    cl17687
    Location:1297
    5_nucleotid; 5' nucleotidase family
  16. XM_024447901.1XP_024303669.1  cytosolic purine 5'-nucleotidase isoform X1

    Conserved Domains (1) summary
    pfam05761
    Location:43496
    5_nucleotid; 5' nucleotidase family
  17. XM_024447902.1XP_024303670.1  cytosolic purine 5'-nucleotidase isoform X2

    Conserved Domains (1) summary
    pfam05761
    Location:43488
    5_nucleotid; 5' nucleotidase family
  18. XM_005269637.5XP_005269694.1  cytosolic purine 5'-nucleotidase isoform X3

    See identical proteins and their annotated locations for XP_005269694.1

    Conserved Domains (1) summary
    pfam05761
    Location:14467
    5_nucleotid; 5' nucleotidase family
  19. XM_017015947.2XP_016871436.1  cytosolic purine 5'-nucleotidase isoform X4

    Conserved Domains (1) summary
    pfam05761
    Location:27465
    5_nucleotid; 5' nucleotidase family
  20. XM_024447903.1XP_024303671.1  cytosolic purine 5'-nucleotidase isoform X5

    Conserved Domains (1) summary
    pfam05761
    Location:24452
    5_nucleotid; 5' nucleotidase family
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