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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
  • PRKMK2 3 4
  • MEK2 3 4
  • MKK2 3 4
  • Dual Specificity Mitogen-Activated Protein Kinase Kinase 2 3
  • Mitogen-Activated Protein Kinase Kinase 2, P45 3
  • EC 2.7.12.2 4
  • 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, cognitive disability, 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]

CIViC summary for MAP2K2 Gene

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 1. Among its related pathways are Focal Adhesion and Immune response Fc epsilon RI pathway. Gene Ontology (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 LOC407835.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for MAP2K2 Gene

Promoters and enhancers for MAP2K2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J004122 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 656.1 +0.5 470 2.5 HDGF PKNOX1 CLOCK SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B MAP2K2 CACTIN CACTIN-AS1 MRPL54 ATCAY MATK ZFR2 ZBTB7A
GH19J004142 Enhancer 1.5 Ensembl ENCODE dbSUPER 12.6 -22.4 -22390 8 PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 APBA3 CACTIN CACTIN-AS1 ENSG00000267769 ENSG00000267030 YJU2 DPP9-AS1 KDM4B ENSG00000269807 CHAF1A
GH19J004129 Enhancer 1.4 Ensembl ENCODE dbSUPER 8.1 -7.0 -6979 2.4 PKNOX1 ATF1 FOXA2 ARNT ARID4B SIN3A ZNF48 ETS1 TCF12 ZNF121 CREB3L3 ANKRD24 SIRT6 CACTIN-AS1 APBA3 CACTIN EEF2 TMIGD2 FSD1 ENSG00000269807
GH19J003811 Enhancer 1.3 FANTOM5 Ensembl ENCODE 5.1 +310.9 310856 3.3 HDGF PKNOX1 ATF1 ZNF121 ATF7 RUNX3 NCOA1 ATF4 SMARCA4 HMBOX1 ZFR2 ATCAY ANKRD24 MATK MAP2K2 FZR1 ZBTB7A YJU2 APBA3 GC19P003816
GH19J004114 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.8 +8.9 8895 2.2 HDGF PKNOX1 BATF KLF5 POLR2A NFATC1 ZNF143 ATF7 IKZF2 RUNX3 MAP2K2 MYDGF ZBTB7A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAP2K2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAP2K2 gene promoter:
  • STAT3
  • deltaCREB
  • CREB
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MAP2K2 Gene

Genomic Locations for MAP2K2 Gene
chr19:4,090,321-4,124,184
(GRCh38/hg38)
Size:
33,864 bases
Orientation:
Minus strand
chr19:4,090,319-4,124,126
(GRCh37/hg19)
Size:
33,808 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

Post-translational modifications for MAP2K2 Gene

  • 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).
  • Acetylation of Ser-222 and Ser-226 by Yersinia yopJ prevents phosphorylation and activation, thus blocking the MAPK signaling pathway.
  • Ubiquitination at posLast=8888
  • Modification sites at PhosphoSitePlus

Other Protein References for MAP2K2 Gene

Antibody Products

No data available for DME Specific Peptides for MAP2K2 Gene

Domains & Families for MAP2K2 Gene

Gene Families for MAP2K2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for MAP2K2 Gene

Graphical View of Domain Structure for InterPro Entry

P36507

UniProtKB/Swiss-Prot:

MP2K2_HUMAN :
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily.
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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.

Enzyme Numbers (IUBMB) for MAP2K2 Gene

Phenotypes From GWAS Catalog for MAP2K2 Gene

Gene Ontology (GO) - Molecular Function for MAP2K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0004708 MAP kinase kinase activity IDA 8388392
GO:0004712 protein serine/threonine/tyrosine kinase activity TAS 19565474
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAP2K2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
mitochondrion 5
peroxisome 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
endosome 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAP2K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 8388392
GO:0005634 nucleus TAS 19565474
GO:0005737 cytoplasm IEA,IBA --
GO:0005739 mitochondrion TAS 19565474
GO:0005769 early endosome TAS 19565474
genes like me logo Genes that share ontologies with MAP2K2: view

Pathways & Interactions for MAP2K2 Gene

SuperPathways for MAP2K2 Gene

SuperPathway Contained pathways
1 RET signaling
2 IL-2 Pathway
3 Regulation of lipid metabolism Insulin signaling-generic cascades
4 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
5 Endometrial cancer
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:0000165 MAPK cascade TAS --
GO:0000187 activation of MAPK activity TAS 19565474
GO:0006468 protein phosphorylation IEA --
GO:0007346 regulation of mitotic cell cycle IBA --
GO:0010629 negative regulation of gene expression IGI 23626836
genes like me logo Genes that share ontologies with MAP2K2: view

Drugs & Compounds for MAP2K2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Trametinib Approved Pharma inhibitor, Biomarker, Target, antagonist MEK 1/2 inhibitor, MEK Inhibitors, Kinase Inhibitors, Mitogen-activated protein/extracellular signal-regulated kinase (MEK) inhibitors 151
cobimetinib Approved, Investigational Pharma inhibitor Selective MEK inhibitor 0
bosutinib Approved Pharma Target, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Dabrafenib Approved, Investigational Pharma Inhibition, inhibitor BRAF kinase inhibitor, Kinase Inhibitors, Mutant BRAF Kinase 92

(6) Additional Compounds for MAP2K2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0

(2) Tocris Compounds for MAP2K2 Gene

Compound Action Cas Number
10Z-Hymenialdisine Pan kinase inhibitor; potently inhibits MEK1 82005-12-7
BIX 02189 Selective MEK5 and ERK5 inhibitor 1265916-41-3
genes like me logo Genes that share compounds with MAP2K2: view

Transcripts for MAP2K2 Gene

Unigene Clusters for MAP2K2 Gene

Mitogen-activated protein kinase kinase 2:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MAP2K2 Gene



Protein tissue co-expression partners for MAP2K2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAP2K2 Gene:

MAP2K2

SOURCE GeneReport for Unigene cluster for MAP2K2 Gene:

Hs.465627

Evidence on tissue expression from TISSUES for MAP2K2 Gene

  • Skin(4.6)
  • Muscle(4.5)
  • Blood(4.3)
  • Liver(4.3)
  • Nervous system(4)
  • Lung(3.4)
  • Intestine(2.5)
  • Pancreas(2.5)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAP2K2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • placenta
  • rectum
  • testicle
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with MAP2K2: view

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 34
  • 100 (a)
OneToOne
LOC100611792 33
  • 95.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAP2K2 34
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAP2K2 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAP2K2 34 33
  • 90.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAP2K2 34 33
  • 90.17 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Map2k2 16 34 33
  • 87.25 (n)
rat
(Rattus norvegicus)
Mammalia Map2k2 33
  • 86 (n)
chicken
(Gallus gallus)
Aves MAP2K2 34 33
  • 82.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAP2K2 34
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii map2k2b 34
  • 82 (a)
OneToMany
map2k2a 34 33
  • 76.26 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3525 33
fruit fly
(Drosophila melanogaster)
Insecta Dsor1 34 35
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mek-2 34 35
  • 53 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR196C 33
  • 51.08 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE7 33
  • 50.06 (n)
PBS2 36 34
  • 22 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16577g 33
  • 46.5 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MKK6 33
  • 50.16 (n)
rice
(Oryza sativa)
Liliopsida Os01g0510100 33
  • 51.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8484 34
  • 62 (a)
OneToMany
Species where no ortholog for MAP2K2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MAP2K2: view image

Paralogs for MAP2K2 Gene

Paralogs for MAP2K2 Gene

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

  • MP2K2_HUMAN
  • B3KS97_HUMAN
  • G5E9C7_HUMAN
  • M0R1B6_HUMAN

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 Variation AA Info Type
rs10250 benign, not specified, Rasopathy 4,101,064(-) G/A/C/T coding_sequence_variant, missense_variant, synonymous_variant
rs10424722 benign, not specified, Rasopathy 4,110,554(-) C/G/T coding_sequence_variant, synonymous_variant
rs1057519806 likely-pathogenic, Malignant melanoma 4,110,583(-) T/C coding_sequence_variant, missense_variant
rs1057519807 likely-pathogenic, Malignant melanoma 4,110,586(-) A/T coding_sequence_variant, missense_variant
rs1057519808 likely-pathogenic, Malignant melanoma 4,117,543(-) T/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv1694n106 CNV deletion 24896259
esv1448615 CNV insertion 17803354
esv2717979 CNV deletion 23290073
esv3555894 CNV deletion 23714750
nsv1072846 CNV deletion 25765185
nsv2393 CNV insertion 18451855
nsv470115 CNV loss 18288195
nsv578435 CNV loss 21841781
nsv833716 CNV loss 17160897

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)

Additional Variant Information for MAP2K2 Gene

Human Gene Mutation Database (HGMD)
MAP2K2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAP2K2

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

Disorders for MAP2K2 Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for MAP2K2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 CF … Guan KL (The Journal of biological chemistry 1993) 2 3 4 22 58
  2. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. (PMID: 20358587) Rauen KA … Lacassie Y (American journal of medical genetics. Part A 2010) 3 4 22 58
  3. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis. (PMID: 20302979) Nyström AM … Bondeson ML (European journal of medical genetics 2010) 3 22 44 58
  4. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. (PMID: 19156172) Dentici ML … Dallapiccola B (European journal of human genetics : EJHG 2009) 3 22 44 58
  5. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (PMID: 19206169) Sarkozy A … Tartaglia M (Human mutation 2009) 3 22 44 58

Products for MAP2K2 Gene