Skip to content
Use your HSA or FSA funds

Gene

MAPK1

mitogen-activated protein kinase 1

Summary

Cytogenetic location
22q11.22
Coordinates
Chromosome 22: 21,759,657–21,867,645 (GRCh38)
Exons
9 exons across 108 kb
Protein
360 amino acids
Inheritance
Autosomal dominant
Also known as
ERK, ERK2, p41mapk, MAPK2
Previous symbols
PRKM2, PRKM1
MANE Select transcript
ENST00000215832.11NM_002745.5
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

    • Autosomal dominant

      Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Cardiac surveillance, developmental support, growth hormone therapy, genetic counseling, MEK inhibitor trials

    • 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.

      • 1 GenCC submitter rates 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.

      • 1 GenCC submitter rates 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 MAPK1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where MAPK1 sits. MAPK1 and 14 genes near it on chromosome 22, from 21,313,651 to 22,313,650.Chromosome 2222q11.22p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3321.4 Mb21.6 Mb21.8 Mb22 Mb22.2 MbFAM246A: 21,360,601–21,361,299, reverse strandFAM246ARIMBP3B: 21,383,751–21,389,478, forward strandRIMBP3BHIC2: 21,416,504–21,451,463, forward strandHIC2TMEM191C: 21,466,423–21,471,269, forward strandTMEM191CRIMBP3C: 21,545,666–21,551,461, reverse strandRIMBP3CUBE2L3: 21,549,447–21,624,034, forward strandUBE2L3YDJC: 21,628,089–21,630,070, reverse strandYDJCCCDC116: 21,632,716–21,637,329, forward strandCCDC116SDF2L1: 21,642,261–21,644,299, forward strandSDF2L1PPIL2: 21,666,000–21,700,015, forward strandPPIL2YPEL1: 21,697,536–21,735,838, reverse strandYPEL1MAPK1: 21,759,657–21,867,645, reverse strandMAPK1PPM1F: 21,903,644–21,952,865, reverse strandPPM1FTOP3B: 21,957,025–21,982,818, reverse strandTOP3BVPREB1: 22,244,780–22,245,515, forward strandVPREB1Diagram of MAPK1: 9 exons on the reverse strand of chromosome 22Exon 7: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 9: 21,759,657–21,764,240, 4,584 basesExon 8: 21,769,195–21,769,320, 126 basesExon 7: 21,772,873–21,772,982, 110 basesExon 6: 21,788,257–21,788,388, 132 basesExon 5: 21,788,694–21,788,808, 115 basesExon 4: 21,799,012–21,799,128, 117 basesExon 3: 21,805,850–21,806,039, 190 basesExon 2: 21,807,664–21,807,846, 183 basesExon 1: 21,867,322–21,867,645, 324 bases9864215′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 5.9 kb of the gene's 108 kb; 1,083 of those bases code for the protein.

How a genome test reads MAPK1

6

positions in MAPK1 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 108 kb of MAPK1, introns included, not only the 5.9 kb of exons.

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.). MAPK1 gene: mitogen-activated protein kinase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/mapk1

Vancouver

Dante Labs. MAPK1 gene: mitogen-activated protein kinase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mapk1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test