Gene: SH2B1
Alternate names for this Gene: PSM|SH2B
Gene Summary: This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described.
Gene is located in Chromosome: 16
Location in Chromosome : 16p11.2
Description of this Gene: SH2B adaptor protein 1
Type of Gene: protein-coding
rs7498665 in
SH2B1 gene and
Body Weight
PMID 19079260 2009 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
rs4788102 in
SH2B1 gene and
Body mass index
PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
PMID 20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 19079260 2009 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
PMID 19079261 2009 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
rs7359397 in
SH2B1 gene and
Body mass index procedure
PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.
PMID 20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
PMID 19079260 2009 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
PMID 19079261 2009 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
rs7359397 in
SH2B1 gene and
Finding of body mass index
PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.
PMID 20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
PMID 19079261 2009 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
PMID 19079260 2009 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
rs28433345 in
SH2B1 gene and
Intelligence
PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.
rs7498665 in
SH2B1 gene and
Obesity
PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
rs4788102 in
SH2B1 gene and
Physical Activity Measurement
PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
rs7359397 in
SH2B1 gene and
Schizophrenia
PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
rs7498665 in
SH2B1 gene and
Smoking Behaviors
PMID 20418888 2010 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.
rs7498665 in
SH2B1 gene and
Waist Circumference
PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.
rs7498665 in
SH2B1 gene and
Waist-Hip Ratio
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
rs11864750 in
SH2B1 gene and
mathematical ability
PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.