Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	NT5C2
Previous Symbol	NT5B
Symbol Alias	PNT5, GMP, cN-II, SPG65
Approved Name	5'-nucleotidase, cytosolic II
Previous Name	5'-nucleotidase (purine), cytosolic type B
Name Alias	purine 5' nucleotidase
Location	10q24.32
Position	chr10:103088017-103193306, -1
External Links	HGNC: 8022 Entrez Gene: 22978 Ensembl: ENSG00000076685 UCSC: uc001kwq.3
No. of Studies	2 (Positive: 2; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Hamshere, M. L.,2012	SNP: rs11191580	We also provide strong evidence for overlap in genetic risk between schizophrenia and bipolar disorder.	Positive	Comment on Study
Cross-Disorder Group of the Psychiatric Genomics Consortium,2013	SNP: rs11191580	Significant association was observed in cross-disorder analysis.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

GO terms by PBA (count: 0)

GO terms by database search (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0055086	nucleobase-containing small molecule metabolic process	biological process	TAS	4
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0008253	5'-nucleotidase activity	molecular function	EXP	3
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0000166	nucleotide binding	molecular function	IEA	17
GO:0017144	drug metabolic process	biological process	TAS	1
GO:0016310	phosphorylation	biological process	TAS	9
GO:0046040	IMP metabolic process	biological process	IBA	2
GO:0050146	nucleoside phosphotransferase activity	molecular function	TAS	1
GO:0005515	protein binding	molecular function	IPI[16189514]	563
GO:0016311	dephosphorylation	biological process	EXP; IEA; TAS[7999131]	14
GO:0006144	purine nucleobase metabolic process	biological process	TAS	3
GO:0005829	cytosol	cellular component	TAS	223
GO:0006195	purine nucleotide catabolic process	biological process	TAS	1
GO:0046085	adenosine metabolic process	biological process	IBA	1

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00230	Purine metabolism	12

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00760	Nicotinate and nicotinamide metabolism	3
hsa00240	Pyrimidine metabolism	5

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NT5C2	FXR2	NO	yeast 2-hybrid	16189514
NT5C2	NOC4L	NO	yeast 2-hybrid	16189514
NT5C2	MOBKL2B	NO	yeast 2-hybrid	16189514
NT5C2	NUDT18	NO	yeast 2-hybrid	16189514

Related other genetic factors

Gene related SNPs (count: 17)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11191580	chr10:103146454 - 103146454(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	3(3/0/0)

LD-proxies (count: 16)

rs_ID	Location	Functional Annotation
rs11191582	chr10:103153896 - 103153896(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12220375	chr10:103141734 - 103141734(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs11191593	chr10:103179458 - 103179458(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs11191548	chr10:103086421 - 103086421(1)	3_prime_UTR_variant; downstream_gene_variant
rs11191555	chr10:103097766 - 103097766(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs17094683	chr10:103091544 - 103091544(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs12217501	chr10:103092132 - 103092132(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs12220743	chr10:103092155 - 103092155(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs12412038	chr10:103096405 - 103096405(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs9633712	chr10:103114004 - 103114004(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs732998	chr10:103138144 - 103138144(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12413046	chr10:103111447 - 103111447(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs10883832	chr10:103111522 - 103111522(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs11191558	chr10:103104921 - 103104921(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11191560	chr10:103109281 - 103109281(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs11191557	chr10:103104857 - 103104857(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 10	chr10:0-133797422	3 (0/2/1)
10q24	chr10:95300000-104000000	4 (0/2/2)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 2)

Reference	Description	Result Category
23453885
22614287	We also provide strong evidence for overlap in genetic risk between schizophrenia and bipolar disorder.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
23453885

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr10:103088017..103193306 View in gBrowse