Gene: MAP3K7

Alternate names for this Gene: CSCF|FMD2|MEKK7|TAK1|TGF1a

Gene Summary: The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported.

Gene is located in Chromosome: 6

Location in Chromosome : 6q15

Description of this Gene: mitogen-activated protein kinase kinase kinase 7

Type of Gene: protein-coding

rs886039230 in MAP3K7 gene and FRONTOMETAPHYSEAL DYSPLASIA 2 PMID 27426733 2016 Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

rs886039235 in MAP3K7 gene and Forney Robinson Pascoe syndrome PMID 27426734 2016 Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

rs10944489 in MAP3K7 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.