Entrez Gene ID | 6885 |
---|---|
Official Gene Symbol | MAP3K7 (GeneCards) |
Full name | mitogen-activated protein kinase kinase kinase 7 |
Location | 6q15 |
Other ids | Vega : OTTHUMG00000015217 MIM : 602614 HGNC : HGNC:6859 Ensembl : ENSG00000135341 |
Other names | CSCF, FMD2, TAK1, MEKK7, TGF1a |
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. [provided by RefSeq, Jul 2008] |
Found 10 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
9066 | 6885 | MAP3K7 | 6 | 91342980 | 91342980 | Asymptomatic | HiSeq X Ten |
9103 | 6885 | MAP3K7 | 6 | 92114111 | 92114111 | Asymptomatic | HiSeq X Ten |
9593 | 6885 | MAP3K7 | 6 | 91522664 | 91522664 | Asymptomatic | HiSeq X Ten |
9785 | 6885 | MAP3K7 | 6 | 91697523 | 91697523 | Asymptomatic | HiSeq X Ten |
9804 | 6885 | MAP3K7 | 6 | 91564252 | 91564252 | Asymptomatic | HiSeq X Ten |
9973 | 6885 | MAP3K7 | 6 | 91787040 | 91787040 | Asymptomatic | HiSeq X Ten |
10207 | 6885 | MAP3K7 | 6 | 91702766 | 91702766 | Cockayne syndrome | HiSeq X Ten |
10316 | 6885 | MAP3K7 | 6 | 91638597 | 91638597 | Xeroderma Pigmentosum | HiSeq X Ten |
26256 | 6885 | MAP3K7 | 6 | 91249959 | 91249959 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
29790 | 6885 | MAP3K7 | 6 | 91226345 | 91226345 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |