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

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

rs62037363 in SH2B1;TUFM gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs62037363 in SH2B1;TUFM gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs56163509 in SH2B1;TUFM gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12448902 in SH2B1;TUFM gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs192613545 in SH2B1;TUFM gene and response to ACE inhibitor PMID 28030426 2017 Meta-analysis of genome-wide association studies on the intolerance of angiotensin-converting enzyme inhibitors.