MAP2K2 mitogen-activated protein kinase kinase 2

Gene info



Previous symbol


External ID

HGNC: 6842
Entrez Gene: 5605
Ensembl: ENSG00000126934
UCSC: uc002lzk.4
OMIM: 601263
UniProtKB: P36507

Disease info

CHD Phenotype

  • Atrial septal defect
  • Bicuspid aortic valve
  • Pulmonic stenosis

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for MAP2K2: BED file

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Selected References

  1. Dentici, M. L., Sarkozy, A., Pantaleoni, F., Carta, C., Lepri, F., Ferese, R., Cordeddu, V., Martinelli, S., Briuglia, S., Digilio, M. C., Zampino, G., Tartaglia, M., & Dallapiccola, B. (2009). Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations. European Journal of Human Genetics, 17(6), 733–740. DOI:10.1038/ejhg.2008.256 PMID:19156172
  2. Narumi, Y., Aoki, Y., Niihori, T., Neri, G., Cavé, H., Verloes, A., Nava, C., Kavamura, M. I., Okamoto, N., Kurosawa, K., Hennekam, R. C. M., Wilson, L. C., Gillessen-Kaesbach, G., Wieczorek, D., Lapunzina, P., Ohashi, H., Makita, Y., Kondo, I., Tsuchiya, S., … Matsubara, Y. (2007). Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome. American Journal of Medical Genetics Part A, 143A(8), 799–807. DOI:10.1002/ajmg.a.31658 PMID:17366577
  3. Rodriguez-Viciana, P., Tetsu, O., Tidyman, W. E., Estep, A. L., Conger, B. A., Cruz, M. S., McCormick, F., & Rauen, K. A. (2006). Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome. Science, 311(5765), 1287–1290. DOI:10.1126/science.1124642 PMID:16439621