The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for MAP2K2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = MAP2K2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of MAP2K2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr19:3,868,451–3,869,181 | 255.1 kb | Distal (>10kb) Multiome | 233 | |
| chr19:3,932,937–3,933,664 | 190.8 kb | Distal (>10kb) Multiome | 198 | |
| chr19:3,968,623–3,969,280 | 155.3 kb | Distal (>10kb) Multiome | 547 | |
| chr19:3,970,535–3,971,713 | 152.9 kb | Distal (>10kb) Multiome | 728 | |
| chr19:3,985,032–3,985,862 | 138.7 kb | Distal (>10kb) Multiome | 932 | |
| chr19:3,987,682–3,988,217 | 136.1 kb | Distal (>10kb) Multiome | 346 | |
| chr19:4,006,992–4,008,553 | 116.6 kb | Distal (>10kb) Multiome | 888 | |
| chr19:4,064,058–4,067,782 | 58.2 kb | Distal (>10kb) Multiome | 811 | |
| chr19:4,123,681–4,124,581 | 49 bp | At TSS Multiome | 798 | |
| chr19:4,182,102–4,182,890 | 58.4 kb | Distal (>10kb) Multiome | 862 | |
| chr19:4,198,066–4,198,600 | 74.2 kb | Distal (>10kb) Multiome | 214 | |
| chr19:4,246,623–4,247,617 | 123.2 kb | Distal (>10kb) Multiome | 960 | |
| chr19:4,326,625–4,329,107 | 204.4 kb | Distal (>10kb) Multiome | 567 | |
| chr19:4,342,323–4,344,016 | 218.8 kb | Distal (>10kb) Multiome | 969 | |
| chr19:4,390,525–4,391,068 | 266.6 kb | Distal (>10kb) Multiome | 464 | |
| chr19:4,399,835–4,401,019 | 276.5 kb | Distal (>10kb) Multiome | 828 | |
| chr19:4,402,106–4,403,050 | 278.4 kb | Distal (>10kb) Multiome | 731 |
Genomic view of the MAP2K2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.