Entrez Gene ID | 5604 |
---|---|
Official Gene Symbol | MAP2K1 (GeneCards) |
Full name | mitogen-activated protein kinase kinase 1 |
Location | 15q22.31 |
Other ids | Vega : OTTHUMG00000133196 MIM : 176872 HGNC : HGNC:6840 Ensembl : ENSG00000169032 |
Other names | CFC3, MEK1, MKK1, MAPKK1, PRKMK1 |
Summary | The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008] |
Found 24 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1427 | 5604 | MAP2K1 | 15 | 66727451 | 66727451 | Arteriovenous Malformation | Illumina platforms? |
1428 | 5604 | MAP2K1 | 15 | 66727451 | 66727451 | Arteriovenous Malformation | Illumina platforms? |
1429 | 5604 | MAP2K1 | 15 | 66727457 | 66727471 | Arteriovenous Malformation | Illumina platforms? |
1430 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1431 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1432 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1433 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1434 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1435 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1436 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1437 | 5604 | MAP2K1 | 15 | 66727451 | 66727451 | Arteriovenous Malformation | Illumina platforms? |
1438 | 5604 | MAP2K1 | 15 | 66727451 | 66727451 | Arteriovenous Malformation | Illumina platforms? |
1439 | 5604 | MAP2K1 | 15 | 66727451 | 66727451 | Arteriovenous Malformation | Illumina platforms? |
1440 | 5604 | MAP2K1 | 15 | 66727451 | 66727451 | Arteriovenous Malformation | Illumina platforms? |
1441 | 5604 | MAP2K1 | 15 | 66727451 | 66727451 | Arteriovenous Malformation | Illumina platforms? |
1442 | 5604 | MAP2K1 | 15 | 66727457 | 66727471 | Arteriovenous Malformation | Illumina platforms? |
1443 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1444 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1445 | 5604 | MAP2K1 | 15 | 66727443 | 66727443 | Arteriovenous Malformation | Illumina platforms? |
1446 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1447 | 5604 | MAP2K1 | 15 | 66727455 | 66727455 | Arteriovenous Malformation | Illumina platforms? |
1448 | 5604 | MAP2K1 | 15 | 66727451 | 66727451 | Arteriovenous Malformation | Illumina platforms? |
19084 | 5604 | MAP2K1 | 15 | 66678853 | 66678853 | Asymptomatic | Illumina platforms? HiSeq X Ten |
19264 | 5604 | MAP2K1 | 15 | 66769817 | 66769817 | Cockayne syndrome | Illumina platforms? HiSeq X Ten |