MAP4K2
mitogen-activated protein kinase kinase kinase kinase 2
Summary
The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs117925626 | 11:64,556,117 | T/C | downstream gene variant | — |
| rs368022804 | 11:64,557,019 | C/T | — | uncertain significance |
| rs138670275 | 11:64,557,051 | G/C | — | uncertain significance |
| rs493573 | 11:64,557,054 | C/T | synonymous variant | benign |
| rs371801593 | 11:64,557,420 | C/T | — | uncertain significance |
| rs143967615 | 11:64,557,702 | G/C | — | uncertain significance |
| rs777555573 | 11:64,557,883 | A/G | — | uncertain significance |
| rs559558840 | 11:64,559,390 | T/G | — | uncertain significance |
| rs372121127 | 11:64,559,404 | G/A | — | uncertain significance |
| rs1330871519 | 11:64,559,428 | A/G | — | uncertain significance |
| rs376125345 | 11:64,559,441 | C/T | — | uncertain significance |
| rs374778757 | 11:64,559,444 | G/A | — | uncertain significance |
| rs753057121 | 11:64,559,450 | C/T | — | uncertain significance |
| rs373936475 | 11:64,559,516 | G/A | — | uncertain significance |
| rs2497032923 | 11:64,559,552 | A/G | — | uncertain significance |
| rs145848436 | 11:64,559,669 | G/A | — | uncertain significance |
| rs17854520 | 11:64,559,740 | G/A | — | benign |
| rs762499243 | 11:64,559,841 | C/T | — | uncertain significance |
| rs34264803 | 11:64,563,757 | C/T | — | benign |
| rs1229719882 | 11:64,563,769 | C/T | — | uncertain significance |
| rs2497043831 | 11:64,563,772 | T/C | — | uncertain significance |
| rs2497044566 | 11:64,564,000 | A/C | — | uncertain significance |
| rs751113191 | 11:64,564,013 | G/A | — | uncertain significance |
| rs145937083 | 11:64,564,174 | C/A | — | uncertain significance |
| rs370785922 | 11:64,564,307 | A/G | — | uncertain significance |
| rs373206883 | 11:64,564,314 | C/T | — | uncertain significance |
| rs2497045706 | 11:64,564,344 | C/A | — | uncertain significance |
| rs368722505 | 11:64,564,638 | G/C | — | uncertain significance |
| rs530729964 | 11:64,564,640 | C/G | — | uncertain significance |
| rs773602212 | 11:64,564,650 | G/T | — | uncertain significance |
| rs202240428 | 11:64,564,752 | G/A | — | uncertain significance |
| rs373475538 | 11:64,564,806 | G/A | — | uncertain significance |
| rs145384465 | 11:64,564,814 | C/A | — | uncertain significance |
| rs2497054893 | 11:64,566,933 | C/T | — | uncertain significance |
| rs775390654 | 11:64,567,110 | C/T | — | uncertain significance |
| rs1377139117 | 11:64,567,112 | T/C | — | uncertain significance |
| rs138163806 | 11:64,567,126 | G/C | — | uncertain significance |
| rs1008881642 | 11:64,567,612 | C/T | — | uncertain significance |
| rs757074978 | 11:64,567,859 | T/C | — | uncertain significance |
| rs937088102 | 11:64,568,285 | T/C | — | uncertain significance |
| rs200727238 | 11:64,568,470 | T/A | — | uncertain significance |
| rs747732537 | 11:64,568,474 | C/T | — | uncertain significance |
| rs763331907 | 11:64,568,589 | G/C | — | uncertain significance |
| rs747164448 | 11:64,569,220 | G/A | — | uncertain significance |
| rs115646677 | 11:64,569,546 | C/A | — | benign |
| rs775113865 | 11:64,569,911 | G/A | — | uncertain significance |
| rs140494021 | 11:64,569,918 | C/T | — | uncertain significance |
| rs146480241 | 11:64,569,954 | T/C | — | uncertain significance |
| rs757566744 | 11:64,570,093 | T/C | — | uncertain significance |
| rs375333253 | 11:64,570,121 | G/T | — | uncertain significance |
| rs2497073080 | 11:64,570,549 | C/T | — | uncertain significance |
| rs760215028 | 11:64,570,599 | G/A | — | uncertain significance |
| rs921922478 | 11:64,570,615 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.