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Aliases for MAP2K2 Gene

Aliases for MAP2K2 Gene

  • Mitogen-Activated Protein Kinase Kinase 2 2 3 5
  • ERK Activator Kinase 2 3 4
  • MAP Kinase Kinase 2 3 4
  • MAPK/ERK Kinase 2 3 4
  • EC 2.7.12.2 4 63
  • PRKMK2 3 4
  • MEK2 3 4
  • MKK2 3 4
  • Mitogen-Activated Protein Kinase Kinase 2, P45 3
  • MAPKK 2 4
  • MAPKK2 3
  • MEK 2 4
  • CFC4 3

External Ids for MAP2K2 Gene

Previous HGNC Symbols for MAP2K2 Gene

  • PRKMK2

Previous GeneCards Identifiers for MAP2K2 Gene

  • GC19M004183
  • GC19M004030
  • GC19M004041
  • GC19M003854

Summaries for MAP2K2 Gene

Entrez Gene Summary for MAP2K2 Gene

  • The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAP2K2 Gene

MAP2K2 (Mitogen-Activated Protein Kinase Kinase 2) is a Protein Coding gene. Diseases associated with MAP2K2 include cardiofaciocutaneous syndrome 4 and cardiofaciocutaneous syndrome. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Signaling by GPCR. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MAP2K3.

UniProtKB/Swiss-Prot for MAP2K2 Gene

  • 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).

Gene Wiki entry for MAP2K2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAP2K2 Gene

Genomics for MAP2K2 Gene

Regulatory Elements for MAP2K2 Gene

Promoters for MAP2K2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MAP2K2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAP2K2 Gene

Chromosome:
19
Start:
4,090,321 bp from pter
End:
4,124,184 bp from pter
Size:
33,864 bases
Orientation:
Minus strand

Genomic View for MAP2K2 Gene

Genes around MAP2K2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAP2K2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAP2K2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAP2K2 Gene

Proteins for MAP2K2 Gene

  • Protein details for MAP2K2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36507-MP2K2_HUMAN
    Recommended name:
    Dual specificity mitogen-activated protein kinase kinase 2
    Protein Accession:
    P36507

    Protein attributes for MAP2K2 Gene

    Size:
    400 amino acids
    Molecular mass:
    44424 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with MORG1 (By similarity). Interacts with SGK1 (PubMed:19447520). Interacts with KSR1 (PubMed:10409742).

    Three dimensional structures from OCA and Proteopedia for MAP2K2 Gene

neXtProt entry for MAP2K2 Gene

Proteomics data for MAP2K2 Gene at MOPED

Post-translational modifications for MAP2K2 Gene

  • Acetylation of Ser-222 and Ser-226 by Yersinia yopJ prevents phosphorylation and activation, thus blocking the MAPK signaling pathway.
  • MAPKK is itself dependent on Ser/Thr phosphorylation for activity catalyzed by MAP kinase kinase kinases (RAF or MEKK1). Phosphorylated by MAP2K1/MEK1 (By similarity).
  • Ubiquitination at Lys 88
  • Modification sites at PhosphoSitePlus

Other Protein References for MAP2K2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MAP2K2 (MEK2)
  • Cloud-Clone Corp. Antibodies for MAP2K2

Protein Products

Domains & Families for MAP2K2 Gene

Graphical View of Domain Structure for InterPro Entry

P36507

UniProtKB/Swiss-Prot:

MP2K2_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily.
genes like me logo Genes that share domains with MAP2K2: view

Function for MAP2K2 Gene

Molecular function for MAP2K2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for MAP2K2 Gene

Gene Ontology (GO) - Molecular Function for MAP2K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA --
genes like me logo Genes that share ontologies with MAP2K2: view
genes like me logo Genes that share phenotypes with MAP2K2: view

Human Phenotype Ontology for MAP2K2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAP2K2 Gene

MGI Knock Outs for MAP2K2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for MAP2K2 Gene

Localization for MAP2K2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAP2K2 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=Membrane localization is probably regulated by its interaction with KSR1. {ECO:0000269 PubMed:10409742}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAP2K2 Gene COMPARTMENTS Subcellular localization image for MAP2K2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endoplasmic reticulum 5
endosome 5
extracellular 5
golgi apparatus 5
mitochondrion 5
nucleus 5
peroxisome 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for MAP2K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005770 late endosome TAS 19565474
GO:0005783 endoplasmic reticulum IDA 21615688
GO:0005938 cell cortex IEA --
genes like me logo Genes that share ontologies with MAP2K2: view

Pathways & Interactions for MAP2K2 Gene

SuperPathways for MAP2K2 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 IL-2 Pathway
3 IL-7 Signaling Pathways
4 Translation Insulin regulation of translation
5 Development HGF signaling pathway
genes like me logo Genes that share pathways with MAP2K2: view

Pathways by source for MAP2K2 Gene

SIGNOR curated interactions for MAP2K2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAP2K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity TAS --
GO:0000187 activation of MAPK activity TAS 19565474
GO:0006468 protein phosphorylation IEA --
GO:0007265 Ras protein signal transduction TAS --
GO:0008286 insulin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with MAP2K2: view

Drugs & Compounds for MAP2K2 Gene

(35) Drugs for MAP2K2 Gene - From: Novoseek, DGIdb, HMDB, ApexBio, Tocris, DrugBank, PharmGKB, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Trametinib Approved Pharma inhibitor, Biomarker, Target MEK 1/2 inhibitor, MEK Inhibitors, Kinase Inhibitors, Mitogen-activated protein/extracellular signal-regulated kinase (MEK) inhibitors 111
bosutinib Approved Pharma Target, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors, Dual Src-Abl inhibitor; antiproliferative 0
Bosulif Approved September 2012 Pharma 0
Mekinist Approved May of 2013 Pharma 0
Adenosine triphosphate Approved Nutra 0

(10) Additional Compounds for MAP2K2 Gene - From: HMDB, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
10Z-Hymenialdisine
82005-12-7
Arctigenin
  • (-)-Arctigenin
  • 4-[(3,4-Dimethoxyphenyl)methyl]dihydro-3-[(4-hydroxy-3-methoxyphenyl)methyl]-(3R,4R)-2(3H)-Furanone
  • 4-[(3,4-Dimethoxyphenyl)methyl]dihydro-3-[(4-hydroxy-3-methoxyphenyl)methyl]-(3R-trans)-2(3H)-Furanone
  • Arctigenin
7770-78-7
U0124
108923-79-1
U0126
109511-58-2
genes like me logo Genes that share compounds with MAP2K2: view

Drug Products

Transcripts for MAP2K2 Gene

Unigene Clusters for MAP2K2 Gene

Mitogen-activated protein kinase kinase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAP2K2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14
SP1: - - - - - - -
SP2: - - - -
SP3: -
SP4:
SP5: -
SP6: -
SP7:
SP8:

Relevant External Links for MAP2K2 Gene

GeneLoc Exon Structure for
MAP2K2
ECgene alternative splicing isoforms for
MAP2K2

Expression for MAP2K2 Gene

mRNA expression in normal human tissues for MAP2K2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAP2K2 Gene

This gene is overexpressed in Bone marrow stromal cell (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAP2K2 Gene



SOURCE GeneReport for Unigene cluster for MAP2K2 Gene Hs.465627

genes like me logo Genes that share expression patterns with MAP2K2: view

Protein tissue co-expression partners for MAP2K2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MAP2K2 Gene

Orthologs for MAP2K2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAP2K2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAP2K2 36
  • 100 (a)
OneToOne
LOC100611792 35
  • 95.71 (n)
  • 92.76 (a)
cow
(Bos Taurus)
Mammalia MAP2K2 36
  • 97 (a)
OneToOne
MAP2K2 35
  • 90.5 (n)
  • 97 (a)
dog
(Canis familiaris)
Mammalia MAP2K2 35
  • 90.17 (n)
  • 96.75 (a)
MAP2K2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Map2k2 16
Map2k2 35
  • 87.25 (n)
  • 94.25 (a)
Map2k2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAP2K2 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAP2K2 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Map2k2 35
  • 86 (n)
  • 94 (a)
chicken
(Gallus gallus)
Aves MAP2K2 36
  • 94 (a)
OneToOne
MAP2K2 35
  • 82.08 (n)
  • 93.97 (a)
lizard
(Anolis carolinensis)
Reptilia MAP2K2 36
  • 85 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3525 35
zebrafish
(Danio rerio)
Actinopterygii map2k2b 36
  • 82 (a)
OneToMany
map2k2a 36
  • 85 (a)
OneToMany
map2k2a 35
  • 76.26 (n)
  • 86.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dsor1 36
  • 60 (a)
OneToMany
Dsor1 37
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea mek-2 37
  • 53 (a)
mek-2 36
  • 53 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR196C 35
  • 51.08 (n)
  • 41.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBS2 38
PBS2 36
  • 22 (a)
OneToMany
STE7 35
  • 50.06 (n)
  • 45.09 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16577g 35
  • 46.5 (n)
  • 43.21 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MKK6 35
  • 50.16 (n)
  • 42.67 (a)
rice
(Oryza sativa)
Liliopsida Os01g0510100 35
  • 51.09 (n)
  • 44.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8484 36
  • 62 (a)
OneToMany
Species with no ortholog for MAP2K2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MAP2K2 Gene

ENSEMBL:
Gene Tree for MAP2K2 (if available)
TreeFam:
Gene Tree for MAP2K2 (if available)

Paralogs for MAP2K2 Gene

Paralogs for MAP2K2 Gene

(15) SIMAP similar genes for MAP2K2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for MAP2K2 Gene

genes like me logo Genes that share paralogs with MAP2K2: view

Variants for MAP2K2 Gene

Sequence variations from dbSNP and Humsavar for MAP2K2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs183017 -- 4,108,316(-) tttca(C/G)tgagc intron-variant
rs187058 -- 4,097,744(+) GGCAG(C/G)CCCCA intron-variant
rs1809977 -- 4,116,337(+) ACCAG(C/G)CTGGC intron-variant
rs1823059 -- 4,115,995(-) CATCC(C/T)GGGCT intron-variant
rs350889 -- 4,118,483(-) tcgtg(C/T)ctcag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAP2K2 Gene

Variant ID Type Subtype PubMed ID
dgv3665n71 CNV Loss 21882294
nsv910783 CNV Loss 21882294
dgv3666n71 CNV Loss 21882294
dgv3667n71 CNV Loss 21882294
esv2717979 CNV Deletion 23290073
nsv470115 CNV Loss 18288195
dgv3673n71 CNV Loss 21882294
nsv2393 CNV Insertion 18451855
nsv910816 CNV Loss 21882294
nsv833716 CNV Loss 17160897
esv1448615 CNV Insertion 17803354

Variation tolerance for MAP2K2 Gene

Residual Variation Intolerance Score: 32.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAP2K2 Gene

HapMap Linkage Disequilibrium report
MAP2K2
Human Gene Mutation Database (HGMD)
MAP2K2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAP2K2 Gene

Disorders for MAP2K2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for MAP2K2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiofaciocutaneous syndrome 4
  • cfc4
cardiofaciocutaneous syndrome
  • cardio-facial-cutaneous syndrome
neurofibromatosis-noonan syndrome
  • neurofibromatosis with noonan phenotype
map2k2-related cardiofaciocutaneous syndrome
noonan syndrome 8
  • ns8
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MP2K2_HUMAN
  • 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. {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.

Relevant External Links for MAP2K2

Genetic Association Database (GAD)
MAP2K2
Human Genome Epidemiology (HuGE) Navigator
MAP2K2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAP2K2
genes like me logo Genes that share disorders with MAP2K2: view

No data available for Genatlas for MAP2K2 Gene

Publications for MAP2K2 Gene

  1. Cloning and characterization of two distinct human extracellular signal-regulated kinase activator kinases, MEK1 and MEK2. (PMID: 8388392) Zheng C.-F. … Guan K.-L. (J. Biol. Chem. 1993) 2 3 4 23 67
  2. RNAi-mediated MEK1 knock-down prevents ERK1/2 activation and abolishes human hepatocarcinoma growth in vitro and in vivo. (PMID: 19816936) Gailhouste L. … Baffet G. (Int. J. Cancer 2010) 3 23
  3. Distinct effects of knocking down MEK1 and MEK2 on replication of herpes simplex virus type 2. (PMID: 20172001) Zhang H. … Peng Y. (Virus Res. 2010) 3 23
  4. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis. (PMID: 20302979) NystrAPm A.M. … Bondeson M.L. (Eur J Med Genet 2010) 3 23
  5. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. (PMID: 20358587) Rauen K.A. … Lacassie Y. (Am. J. Med. Genet. A 2010) 3 23

Products for MAP2K2 Gene

Sources for MAP2K2 Gene

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