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Gene

MAP2K2

mitogen-activated protein kinase kinase 2

Summary

Cytogenetic location
19p13.3
Coordinates
Chromosome 19: 4,090,321–4,124,122 (GRCh38)
Exons
11 exons across 33.8 kb
Protein
400 amino acids
Inheritance
Autosomal dominant
Also known as
MEK2, MKK2
Previous symbols
PRKMK2
MANE Select transcript
ENST00000262948.10NM_030662.4
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
      • 6 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
      • 6 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 MAP2K2 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 19, with a bracket where MAP2K2 sits. MAP2K2 and 33 genes near it on chromosome 19, from 3,607,222 to 4,607,221.Chromosome 1919p13.3p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.433.8 Mb4 Mb4.2 Mb4.4 Mb4.6 MbCACTIN: 3,610,643–3,626,833, reverse strandCACTINPIP5K1C: 3,630,181–3,700,506, reverse strandPIP5K1CTJP3: 3,708,310–3,750,813, forward strandTJP3APBA3: 3,750,772–3,761,700, reverse strandAPBA3MRPL54: 3,761,841–3,769,033, forward strandMRPL54RAX2: 3,769,089–3,772,238, reverse strandRAX2MATK: 3,777,969–3,802,129, reverse strandMATKZFR2: 3,804,024–3,869,055, reverse strandZFR2ATCAY: 3,879,864–3,928,082, forward strandATCAYNMRK2: 3,932,994–3,943,081, forward strandNMRK2DAPK3: 3,958,453–3,971,130, reverse strandDAPK3EEF2: 3,976,044–3,985,479, reverse strandEEF2PIAS4: 4,007,690–4,039,386, forward strandPIAS4ZBTB7A: 4,041,419–4,067,636, reverse strandZBTB7AMAP2K2: 4,090,321–4,124,122, reverse strandMAP2K2CREB3L3: 4,152,949–4,173,057, forward strandCREB3L3SIRT6: 4,174,104–4,182,604, reverse strandSIRT6ANKRD24: 4,182,630–4,224,818, forward strandANKRD24EBI3: 4,229,267–4,238,167, forward strandEBI3YJU2: 4,247,062–4,269,091, forward strandYJU2SHD: 4,279,013–4,290,728, forward strandSHDTMIGD2: 4,292,227–4,302,431, reverse strandTMIGD2FSD1: 4,304,587–4,323,844, forward strandFSD1STAP2: 4,324,040–4,342,786, reverse strandSTAP2MPND: 4,343,527–4,360,086, forward strandMPNDSH3GL1: 4,360,367–4,400,573, reverse strandSH3GL1CHAF1A: 4,402,522–4,445,018, forward strandCHAF1AUBXN6: 4,444,999–4,457,794, reverse strandUBXN6HDGFL2: 4,472,244–4,502,225, forward strandHDGFL2PLIN4: 4,502,182–4,520,379, reverse strandPLIN4PLIN5: 4,522,527–4,535,285, reverse strandPLIN5: 4,528,427–4,540,067, reverse strandLRG1: 4,536,402–4,540,104, reverse strandLRG1SEMA6B: 4,542,588–4,581,795, reverse strandDiagram of MAP2K2: 11 exons on the reverse strand of chromosome 19Exon 6: 1 known disease-causing siteExon 3: 8 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 11: 4,090,321–4,090,708, 388 basesExon 10: 4,094,453–4,094,498, 46 basesExon 9: 4,095,388–4,095,449, 62 basesExon 8: 4,097,279–4,097,343, 65 basesExon 7: 4,099,201–4,099,414, 214 basesExon 6: 4,101,019–4,101,143, 125 bases. 1 variant with a page in exon 6. List themExon 5: 4,101,229–4,101,280, 52 basesExon 4: 4,102,376–4,102,453, 78 basesExon 3: 4,110,509–4,110,655, 147 basesExon 2: 4,117,419–4,117,629, 211 bases. 1 variant with a page in exon 2. List themExon 1: 4,123,784–4,124,122, 339 bases1110864215′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 1.7 kb of the gene's 33.8 kb; 1,203 of those bases code for the protein.

How a genome test reads MAP2K2

17

positions in MAP2K2 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 33.8 kb of MAP2K2, introns included, not only the 1.7 kb of exons.

Variants with a page (2)

The MAP2K2 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
E207Kc.619G>AExon 64,101,105Likely pathogenic3 stars out of 4 reviewed by expert panel
F57Vc.169T>GExon 24,117,553Pathogenic3 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.). MAP2K2 gene: mitogen-activated protein kinase kinase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/map2k2

Vancouver

Dante Labs. MAP2K2 gene: mitogen-activated protein kinase kinase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/map2k2

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