Gene: NT5C2
Alternate names for this Gene: GMP|NT5B|PNT5|SPG45|SPG65|cN-II
Gene 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.
Gene is located in Chromosome: 10
Location in Chromosome : 10q24.32-q24.33
Description of this Gene: 5'-nucleotidase, cytosolic II
Type of Gene: protein-coding
rs77420391 in
NT5C2 gene and
Anxiety
PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
rs11191580 in
NT5C2 gene and
Attention deficit hyperactivity disorder
PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
rs11191580 in
NT5C2 gene and
Bipolar Disorder
PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
rs74233809 in
NT5C2 gene and
Birth Weight
PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.
rs11191593 in
NT5C2 gene and
Blood Pressure
PMID 24001895 2013 Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.
PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
rs11191560 in
NT5C2 gene and
Body mass index
PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
PMID 24861553 2014 We identified four novel BMI-associated loci near the KCNQ1 (rs2237892, P = 9.29 × 10(-13)), ALDH2/MYL2 (rs671, P = 3.40 × 10(-11); rs12229654, P = 4.56 × 10(-9)), ITIH4 (rs2535633, P = 1.77 × 10(-10)) and NT5C2 (rs11191580, P = 3.83 × 10(-8)) genes.
PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
rs11191580 in
NT5C2 gene and
Body mass index procedure
PMID 24861553 2014 We identified four novel BMI-associated loci near the KCNQ1 (rs2237892, P = 9.29 × 10(-13)), ALDH2/MYL2 (rs671, P = 3.40 × 10(-11); rs12229654, P = 4.56 × 10(-9)), ITIH4 (rs2535633, P = 1.77 × 10(-10)) and NT5C2 (rs11191580, P = 3.83 × 10(-8)) genes.
rs11191580 in
NT5C2 gene and
Cardiovascular Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs11191580 in
NT5C2 gene and
Child Development Disorders, Pervasive
PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
rs11191580 in
NT5C2 gene and
Finding of body mass index
PMID 24861553 2014 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
rs11191580 in
NT5C2 gene and
Hypertensive disease
PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
rs11191580 in
NT5C2 gene and
Major Depressive Disorder
PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
rs11191580 in
NT5C2 gene and
Mean blood pressure
PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
PMID 24001895 2013 Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.
rs559546873 in
NT5C2 gene and
RDW - Red blood cell distribution width result
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs559546873 in
NT5C2 gene and
Red cell distribution width determination
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs7896547 in
NT5C2 gene and
Reticulocyte count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs1430860231 in
NT5C2 gene and
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
rs10883832 in
NT5C2 gene and
Schizophrenia
PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.
PMID 22688191 2012 Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
PMID 21926974 2011 Genome-wide association study identifies five new schizophrenia loci.
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
rs11191560 in
NT5C2 gene and
Smoking
PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
rs11191580 in
NT5C2 gene and
Systolic Pressure
PMID 28348047 2017 Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.