TRIB2

tribbles pseudokinase 2

Summary

This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

Known Variants19 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2528349749	2:12,858,471	G/A	—	uncertain significance
rs1395559730	2:12,858,489	A/G	—	uncertain significance
rs201718135	2:12,858,494	A/G	—	uncertain significance
rs775750955	2:12,858,495	C/G	—	uncertain significance
rs2528349838	2:12,858,509	G/C	—	uncertain significance
rs765730179	2:12,858,511	G/C	—	uncertain significance
rs369189598	2:12,858,521	A/G	—	uncertain significance
rs1187498671	2:12,858,527	T/A	—	uncertain significance
rs2528350111	2:12,858,612	G/C	—	uncertain significance
rs755829009	2:12,858,639	C/A	—	uncertain significance
rs1027846381	2:12,858,663	G/A	—	uncertain significance
rs547834107	2:12,858,668	G/C	—	uncertain significance
rs140143213	2:12,863,419	G/T	—	uncertain significance
rs145543992	2:12,863,688	A/T	—	benign
rs13016883	2:12,877,307	C/G	upstream gene variant	—
rs1346973390	2:12,880,519	G/A	—	uncertain significance
rs925303861	2:12,880,543	G/A	—	uncertain significance
rs2528389658	2:12,880,660	G/A	—	uncertain significance
rs376273712	2:12,880,828	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.