Gene: TUFM

Alternate names for this Gene: COXPD4|EF-TuMT|EFTU|P43

Gene Summary: This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: Tu translation elongation factor, mitochondrial

Type of Gene: protein-coding

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

rs369515117 in TUFM;SH2B1 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs12446589 in TUFM;SH2B1 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs7187776 in TUFM;SH2B1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs7201929 in TUFM;SH2B1 gene and QT interval feature (observable entity) PMID 29213071 2017 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

rs7187776 in TUFM;SH2B1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12446589 in TUFM;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.