• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MAP2K1 (HGNC:6840) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
mitogen-activated protein kinase kinase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PRKMK1
Alias symbols
MEK1, MAPKK1, MKK1
%HI
5.71(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.9(Read more about gnomAD pLI score)
LOEUF
0.38(Read more about gnomAD LOEUF score)
Cytoband
15q22.31
Genomic Coordinates
GRCh37/hg19: chr15:66679250-66783882 NCBI Ensembl UCSC
GRCh38/hg38: chr15:66386912-66491544 NCBI Ensembl UCSC
MANE Select Transcript
NM_002755.4 ENST00000307102.10 (Read more about MANE Select)
Function
Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17412
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/13/2015

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Deletion of MAP2K1 (also known as MEK1) is not known to be associated with developmental phenotypes. Sequence-level gain-of-function-type mutations of MAP2K1 are associated with Noonan syndrome with and without multiple lentigines and cardio-facio-cutaneous syndrome.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Duplication of MAP2K1 (also known as MEK1) is not known to be associated with developmental phenotypes. Sequence-level gain-of-function-type mutations of MAP2K1 are associated with Noonan syndrome with and without multiple lentigines and cardio-facio-cutaneous syndrome.

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)