MAP4K4

mitogen-activated protein kinase kinase kinase kinase 4

Summary

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants107 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs13430871	2:102,313,935	C/T	—	benign
rs13430711	2:102,314,437	T/C	—	benign
rs2035271150	2:102,314,573	G/A	—	uncertain significance
rs142097566	2:102,314,618	G/A	—	benign
rs560675155	2:102,314,762	C/T	—	benign
rs2466781417	2:102,314,945	G/C	—	uncertain significance
rs1567385	2:102,315,057	A/G	—	benign
rs6543087	2:102,315,933	A/T	regulatory region variant	—
rs11674694	2:102,325,324	C/A	—	—
rs202205120	2:102,332,985	A/G	—	—
rs6754713	2:102,370,784	G/A	regulatory region variant	—
rs185624265	2:102,374,841	C/G	regulatory region variant	—
rs13003883	2:102,383,093	A/G	—	—
rs75631690	2:102,383,236	A/G	regulatory region variant	—
rs11683001	2:102,396,963	T/A	intron variant	—
rs13420267	2:102,407,034	A/G	—	benign
rs373459163	2:102,407,179	C/T	—	likely benign
rs2470561483	2:102,407,189	A/T	—	uncertain significance
rs1235107648	2:102,407,198	C/T	—	uncertain significance
rs6733385	2:102,407,410	C/T	—	benign
rs2286240	2:102,440,166	G/A	—	benign
rs55856263	2:102,440,464	T/C	—	likely benign
rs7601576	2:102,440,723	G/A	—	benign
rs2236936	2:102,443,821	C/G	regulatory region variant	—
rs2236935	2:102,444,042	C/T	regulatory region variant	—
rs79626224	2:102,445,805	T/G	—	benign
rs55715763	2:102,445,893	G/A	—	benign
rs1182529595	2:102,445,984	A/G	—	uncertain significance
rs2466803495	2:102,446,006	A/G	—	uncertain significance
rs746630060	2:102,446,033	C/G	—	uncertain significance
rs2466903970	2:102,448,245	A/C	—	uncertain significance
rs2466904144	2:102,448,257	A/G	—	likely pathogenic
rs2466904177	2:102,448,258	T/A	—	uncertain significance
rs2301980	2:102,450,731	C/A	—	benign
rs374842800	2:102,450,867	G/A	—	benign
rs56813602	2:102,451,068	G/A	—	benign
rs756472521	2:102,452,424	C/A	—	uncertain significance
rs57968315	2:102,452,532	C/T	—	benign
rs760979075	2:102,456,388	A/G	—	uncertain significance
rs759833561	2:102,459,121	C/T	—	uncertain significance
rs17801985	2:102,459,268	G/A	—	benign
rs2467413773	2:102,460,591	A/G	—	uncertain significance
rs1191731616	2:102,460,651	C/T	—	uncertain significance
rs73943801	2:102,472,225	G/T	—	benign
rs13407465	2:102,472,358	C/G	—	benign
rs1139583	2:102,472,459	A/G	—	benign
rs2467846723	2:102,472,485	A/G	—	uncertain significance
rs183981968	2:102,472,645	T/C	intron variant	—
rs992606913	2:102,475,465	T/G	—	uncertain significance
rs780708201	2:102,475,503	G/A	—	likely benign
rs978627982	2:102,476,214	C/T	—	uncertain significance
rs755526358	2:102,476,216	C/T	—	uncertain significance
rs55844421	2:102,476,221	G/A	—	benign
rs949605261	2:102,476,238	C/T	—	uncertain significance
rs767335538	2:102,476,277	A/G	—	uncertain significance
rs1435165510	2:102,476,298	A/G	—	uncertain significance
rs781410462	2:102,476,316	G/A	—	likely pathogenic
rs200603698	2:102,476,319	C/T	—	conflicting classifications of pathogenicity
rs572481216	2:102,477,356	T/A	—	uncertain significance
rs181612739	2:102,477,422	G/A	—	uncertain significance
rs2468033148	2:102,477,435	C/G	—	uncertain significance
rs56378209	2:102,477,453	T/C	—	benign
rs62153660	2:102,477,658	G/A	—	benign
rs773330069	2:102,482,893	T/C	—	likely benign
rs6713594	2:102,483,177	A/T	—	benign
rs749961363	2:102,483,730	C/A	—	uncertain significance
rs17745869	2:102,483,883	T/G	—	benign
rs199996114	2:102,486,093	G/T	—	uncertain significance
rs773558529	2:102,486,107	G/T	—	uncertain significance
rs770671445	2:102,486,148	C/T	—	uncertain significance
rs545368433	2:102,486,181	C/T	—	uncertain significance
rs751435179	2:102,486,258	G/A	—	uncertain significance
rs9967842	2:102,486,325	C/T	—	benign
rs112366063	2:102,486,433	G/A	—	benign
rs6761844	2:102,486,435	A/G	—	benign
rs767343379	2:102,486,794	G/C	—	uncertain significance
rs2468398038	2:102,486,804	T/C	—	uncertain significance
rs9967668	2:102,487,862	A/T	—	benign
rs185929658	2:102,487,957	G/A	—	uncertain significance
rs1298425197	2:102,487,981	G/A	—	uncertain significance
rs772934965	2:102,487,987	A/G	—	uncertain significance
rs767548846	2:102,488,007	G/A	—	uncertain significance
rs555033539	2:102,488,053	C/T	—	uncertain significance
rs541836462	2:102,488,095	C/T	—	uncertain significance
rs2468532782	2:102,490,109	A/C	—	uncertain significance
rs6705854	2:102,490,466	C/T	—	benign
rs375228116	2:102,490,663	C/T	—	uncertain significance
rs2468556303	2:102,490,705	G/T	—	uncertain significance
rs7583833	2:102,490,752	G/C	—	benign
rs72829243	2:102,492,149	G/A	intron variant	—
rs114759280	2:102,493,452	G/A	—	benign
rs1014270424	2:102,493,485	A/G	—	uncertain significance
rs2468661370	2:102,493,491	A/T	—	uncertain significance
rs2072206	2:102,501,512	G/C	—	benign
rs72991249	2:102,501,589	T/G	—	benign
rs775466179	2:102,501,741	G/T	—	uncertain significance
rs57584884	2:102,501,891	A/G	—	benign
rs184817270	2:102,504,249	A/G	—	uncertain significance
rs371995247	2:102,504,275	C/T	—	benign
rs781353896	2:102,504,294	A/G	—	uncertain significance

Showing 100 of 107 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.