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Gene

MAP2K1

mitogen-activated protein kinase kinase 1

Summary

Cytogenetic location
15q22.31
Coordinates
Chromosome 15: 66,386,912–66,491,544 (GRCh38)
Exons
11 exons across 104.6 kb
Protein
393 amino acids
Inheritance
Autosomal dominant
Also known as
MEK1, MAPKK1, MKK1
Previous symbols
PRKMK1
MANE Select transcript
ENST00000307102.10NM_002755.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Noonan Syndrome

    • Noonan Syndrome and Noonan-Related Syndromes

      A group of RAS pathway conditions, including Noonan, Costello, cardiofaciocutaneous and Legius syndromes, with variable heart defects, short stature and distinctive facial features.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports heart, growth and developmental assessment.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How MAP2K1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 15, with a bracket where MAP2K1 sits. MAP2K1 and 8 genes near it on chromosome 15, from 65,939,228 to 66,939,227.Chromosome 1515q22.31p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.366 Mb66.2 Mb66.4 Mb66.6 Mb66.8 MbMEGF11: 65,895,079–66,253,811, reverse strandMEGF11DIS3L: 66,293,217–66,333,906, forward strandDIS3LTIPIN: 66,336,191–66,386,756, reverse strandTIPINMAP2K1: 66,386,912–66,491,544, forward strandMAP2K1SNAPC5: 66,487,639–66,497,823, reverse strandSNAPC5RPL4: 66,498,015–66,524,532, reverse strandRPL4ZWILCH: 66,504,959–66,550,130, forward strandZWILCHLCTL: 66,547,179–66,566,003, reverse strandLCTLSMAD6: 66,701,224–66,782,860, forward strandSMAD6Diagram of MAP2K1: 11 exons on the forward strand of chromosome 15Exon 2: 13 known disease-causing sitesExon 3: 12 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 1: 66,386,912–66,387,427, 516 basesExon 2: 66,435,027–66,435,237, 211 bases. 1 variant with a page in exon 2. List themExon 3: 66,436,746–66,436,892, 147 bases. 2 variants with a page in exon 3. List themExon 4: 66,443,280–66,443,357, 78 basesExon 5: 66,444,656–66,444,707, 52 basesExon 6: 66,481,755–66,481,879, 125 basesExon 7: 66,484,990–66,485,191, 202 basesExon 8: 66,487,228–66,487,292, 65 basesExon 9: 66,489,215–66,489,276, 62 basesExon 10: 66,489,718–66,489,763, 46 basesExon 11: 66,490,502–66,491,544, 1,043 bases1115′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.5 kb of the gene's 104.6 kb; 1,182 of those bases code for the protein.

How a genome test reads MAP2K1

29

positions in MAP2K1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 104.6 kb of MAP2K1, introns included, not only the 2.5 kb of exons.

Variants with a page (3)

The MAP2K1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
D67Nc.199G>AExon 266,435,145Pathogenic3 stars out of 4 reviewed by expert panel
Y130Cc.389A>GExon 366,436,843Pathogenic3 stars out of 4 reviewed by expert panel
Y130Hc.388T>CExon 366,436,842Likely pathogenic3 stars out of 4 reviewed by expert panel

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MAP2K1 gene: mitogen-activated protein kinase kinase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/map2k1

Vancouver

Dante Labs. MAP2K1 gene: mitogen-activated protein kinase kinase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/map2k1

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