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MGP002444

UniProt Annotations

Entry Information
Gene Namemitogen-activated protein kinase kinase 2
Protein EntryMP2K2_HUMAN
UniProt IDP36507
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + a protein = ADP + a phosphoprotein.
DiseaseCardiofaciocutaneous syndrome 4 (CFC4) [MIM:615280]: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:20358587}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes 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). {ECO:0000250}.
InteractionP10398:ARAF; NbExp=4; IntAct=EBI-1056930, EBI-365961; Q12959:DLG1; NbExp=10; IntAct=EBI-1056930, EBI-357481;
PtmAcetylation of Ser-222 and Ser-226 by Yersinia yopJ prevents phosphorylation and activation, thus blocking the MAPK signaling pathway. {ECO:0000269|PubMed:17116858, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:18691976, ECO:0000269|PubMed:19413330, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:21406692, ECO:0000269|Ref.3}.
PtmMAPKK is itself dependent on Ser/Thr phosphorylation for activity catalyzed by MAP kinase kinase kinases (RAF or MEKK1). Phosphorylated by MAP2K1/MEK1 (By similarity). {ECO:0000250}.
SimilarityBelongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. {ECO:0000305}.
SimilarityContains 1 protein kinase domain. {ECO:0000255|PROSITE-ProRule:PRU00159}.
SubunitInteracts with MORG1 (By similarity). Interacts with SGK1. {ECO:0000250, ECO:0000269|PubMed:19447520}.
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