mitogen-activated protein kinase kinase 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Childhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal hydrops
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic short stature
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+9 more panels — install the extension to see the full list inline on any page.
cardiofaciocutaneous syndrome
melanoma
cancer
Noonan syndrome
RASopathy
neurofibromatosis type 1
neoplasm
metastatic melanoma
hypertrophic cardiomyopathy
plexiform neurofibroma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Dual specificity mitogen-activated protein kinase kinase 2
Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126)
Curated MONDO disease pages that list MAP2K2 among their top associated genes.
MAP2K2 · P36507
Mean pLDDT
81.6/ 100
Confident
400 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
