MP2K2_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
MAP2K2
, MEK2, MKK2, PRKMK2
Protein names and data:
MP2K2_HUMAN
, Dual specificity mitogen-activated protein kinase kinase 2; MAP kinase kinase 2; MAPKK 2; 2.7.12.2
, ERK activator kinase 2; MAPK/ERK kinase 2; MEK 2
Lenght: 400 a.a.
Mass: 44424 Da
fasta formatted sequence
Function:
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).
Catalytic activity:
ATP + a protein = ADP + a phosphoprotein.
Disease:
( OMIM:
601263
615280
)
Cardiofaciocutaneous 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
57 - 57
F -> C (in CFC4). VAR_035095
57 - 57
F -> V (in CFC4). VAR_069781
128 - 128
P -> Q (in CFC4; results in increased kinase activity). VAR_069782
134 - 134
Y -> H (in CFC4). VAR_069783
Database cross-references
UniProt:
P36507
Ensembl:
ENST00000262948
MIM:
601263
MIM:
615280
neXtProt:
NX_P36507
Antibodypedia:
P36507
(may not find the protein thus also not any antibody)
Local full text data:
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