MAP2K1 |
- 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)