MAP2K1 mitogen-activated protein kinase kinase 1

Gene info



Previous symbol


External ID

HGNC: 6840
Entrez Gene: 5604
Ensembl: ENSG00000169032
UCSC: uc010bhq.4
OMIM: 176872
UniProtKB: Q02750

Disease info

CHD Phenotype

  • Atrial septal defect
  • Pulmonic stenosis

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No CHD 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 MAP2K1: 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