Aliases for MAP2K2 Gene
Aliases for MAP2K2 Gene
External Ids for MAP2K2 Gene
- HGNC: 6842
- Entrez Gene: 5605
- Ensembl: ENSG00000126934
- OMIM: 601263
- UniProtKB: P36507
Previous HGNC Symbols for MAP2K2 Gene
- PRKMK2
Previous GeneCards Identifiers for MAP2K2 Gene
- GC19M004183
- GC19M004030
- GC19M004041
- GC19M003854
Summaries 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]
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).
Additional gene information for MAP2K2 Gene
- Monarch Initiative
- Search for MAP2K2 at DataMed
- Search for MAP2K2 at HumanCyc
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
- 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
Regulatory Element Products
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:
-
- 19p13.3 by Entrez Gene
- 19p13.3 by HGNC
- 19p13.3 by Ensembl
MAP2K2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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).
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for MAP2K2 (MEK2)
-
Custom Antibody ServicesOriGene Antibodies for MAP2K2
- Novus Biologicals Antibodies for MAP2K2
-
Abcam antibodies for MAP2K2
- Invitrogen Antibodies for MAP2K2 (AFLGC-MAP2K2)
- antibodies-online: Search results for 320 available MAP2K2 Antibodies ranked by validation data
- Compare Top MAP2K2 Antibodies
-
Recommended
- 87 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 268 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 1 DB Antibody (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 122 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 1 IF/ICC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- GeneTex MAP2K2 Antibody for MAP2K2
-
Santa Cruz Biotechnology (SCBT) Antibodies for MAP2K2
- Sino Biological Antibodies for MAP2K2
Protein Products
- R&D Systems Proteins and Enzymes for MAP2K2 (MEK2)
-
OriGene Purified Proteins for MAP2K2
- Search Origene for MassSpec and Protein Over-expression Lysates for MAP2K2
- Origene Custom Protein Services for MAP2K2
- Sino Biological Recombinant Proteins for MAP2K2
- Sino Biological Cell Lysates for MAP2K2
- ProSpec Recombinant Proteins for MAP2K2
- Search GeneTex for Proteins for MAP2K2
-
Abcam proteins for MAP2K2
Assay Products
-
Abcam assays for MAP2K2
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MAP2K2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P36507UniProtKB/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.
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
| 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 |
Phenotypes for MAP2K2 Gene
- MGI mutant phenotypes for MAP2K2:
-
inferred from 2 alleles
- cardiovascular system phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- behavior/neurological phenotype
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- craniofacial phenotype
- skeleton phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- adipose tissue phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for MAP2K2:
-
- Decreased viability ratio
- Decreased substrate adherent cell growth
- Increased cell death HMECs cells
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased cell migration
- Increased cell viability after pRB stimulation
- Decreased viability
- no effect
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
Animal Models for MAP2K2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MAP2K2
-
CRISPR Products
-
OriGene CRISPR knockouts for MAP2K2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAP2K2
- genomics-online: gRNA clones - Search results for 123 available MAP2K2 gene related products
- Overview of 123 available MAP2K2 gene related products
- Applied Biological Materials CRISPR for MAP2K2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAP2K2
- GenScript: Design CRISPR guide RNA sequences for MAP2K2
miRNA for MAP2K2 Gene
- miRTarBase miRNAs that target MAP2K2
-
- hsa-mir-7-5p (MIRT025900)
- hsa-let-7b-5p (MIRT032459)
- hsa-mir-6855-5p (MIRT531850)
- hsa-mir-3170 (MIRT531851)
- hsa-mir-3649 (MIRT531852)
- hsa-mir-193b-5p (MIRT531853)
- hsa-mir-5589-5p (MIRT531854)
- hsa-mir-492 (MIRT531855)
- hsa-mir-4731-5p (MIRT531856)
- hsa-mir-7155-5p (MIRT531857)
- hsa-mir-3692-5p (MIRT531858)
- hsa-mir-196b-3p (MIRT531859)
- hsa-mir-6893-3p (MIRT531860)
- hsa-mir-370-3p (MIRT531861)
- hsa-mir-7856-5p (MIRT639731)
- hsa-mir-6864-3p (MIRT639732)
- hsa-mir-3672 (MIRT639733)
- hsa-mir-3119 (MIRT639734)
- hsa-mir-873-3p (MIRT639735)
- hsa-mir-3607-5p (MIRT639736)
- hsa-mir-224-5p (MIRT639737)
- hsa-mir-129-5p (MIRT783529)
- hsa-mir-296-3p (MIRT784375)
- hsa-mir-3674 (MIRT785179)
- hsa-mir-4732-5p (MIRT786561)
- hsa-mir-6832-5p (MIRT789002)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAP2K2
- Browse OriGene Inhibitory RNA Products For MAP2K2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAP2K2
- genomics-online: shRNA clones - Search results for 123 available MAP2K2 gene related products
- Overview of 123 available MAP2K2 gene related products
Clone Products
-
OriGene ORF clones in human for MAP2K2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MAP2K2
- Addgene plasmids for MAP2K2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAP2K2
- Applied Biological Materials Clones for MAP2K2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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}.
| 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 |
- Cytosol (3)
| 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 |
Pathways & Interactions for MAP2K2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | IL-2 Pathway |
.59
.48
|
.43
.37
.36
.34
|
| 3 | Regulation of lipid metabolism Insulin signaling-generic cascades | ||
| 4 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways | ||
| 5 | Endometrial cancer |
.36
.32
|
|
Pathways by source for MAP2K2 Gene
12 Sino Biological pathways for MAP2K2 Gene
2 GeneTex pathways for MAP2K2 Gene
54 BioSystems pathways for MAP2K2 Gene
65 Reactome pathways for MAP2K2 Gene
3 PharmGKB pathways for MAP2K2 Gene
64 KEGG pathways for MAP2K2 Gene
71 GeneGo (Thomson Reuters) pathways for MAP2K2 Gene
12 R&D Systems pathways for MAP2K2 Gene
5 Tocris pathways for MAP2K2 Gene
97 Qiagen pathways for MAP2K2 Gene
1 Cell Signaling Technology pathway for MAP2K2 Gene
Interacting Proteins for MAP2K2 Gene
Selected Interacting proteins:
P36507-MP2K2_HUMAN
ENSP00000262948
for MAP2K2 Gene via
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for MAP2K2
SIGNOR curated interactions 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 |
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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
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 |
Drug Products
Transcripts for MAP2K2 Gene
mRNA/cDNA for MAP2K2 Gene
- (5) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (543) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000262948 1734 bps (uc002lzk.4)
- ENST00000600584 2926 bps (uc060rty.1)
- ENST00000601786 1778 bps (uc060rtz.1)
- ENST00000597263 552 bps (uc060rub.1)
- ENST00000599021 314 bps (uc060ruc.1)
Unigene Clusters for MAP2K2 Gene
- Mitogen-activated protein kinase kinase 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MAP2K2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAP2K2
- genomics-online: gRNA clones - Search results for 123 available MAP2K2 gene related products
- Overview of 123 available MAP2K2 gene related products
- Applied Biological Materials CRISPR for MAP2K2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAP2K2
- GenScript: Design CRISPR guide RNA sequences for MAP2K2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAP2K2
- Browse OriGene Inhibitory RNA Products For MAP2K2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAP2K2
- genomics-online: shRNA clones - Search results for 123 available MAP2K2 gene related products
- Overview of 123 available MAP2K2 gene related products
Clone Products
-
OriGene ORF clones in human for MAP2K2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MAP2K2
- Addgene plasmids for MAP2K2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAP2K2
- Applied Biological Materials Clones for MAP2K2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for MAP2K2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
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
NURSA nuclear receptor signaling pathways regulating expression of MAP2K2 Gene:
MAP2K2SOURCE GeneReport for Unigene cluster for MAP2K2 Gene:
Hs.465627Evidence 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
Primer Products
-
OriGene qPCR primer pairs for MAP2K2
-
OriGene qPCR primer pairs and template standards for MAP2K2
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MAP2K2 34 |
|
OneToOne | |
| LOC100611792 33 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | MAP2K2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MAP2K2 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MAP2K2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MAP2K2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Map2k2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Map2k2 33 |
|
||
| chicken (Gallus gallus) |
Aves | MAP2K2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MAP2K2 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | map2k2b 34 |
|
OneToMany | |
| map2k2a 34 33 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3525 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Dsor1 34 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | mek-2 34 35 |
|
OneToMany | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACR196C 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | STE7 33 |
|
||
| PBS2 36 34 |
|
||||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C16577g 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | MKK6 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0510100 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8484 34 |
|
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
(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
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAP2K2 Gene
Disorders for MAP2K2 Gene
(16) MalaCards diseases for MAP2K2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cardiofaciocutaneous syndrome 4 |
|
|
| cardiofaciocutaneous syndrome 1 |
|
|
| neurofibromatosis-noonan syndrome |
|
|
| pancreas adenocarcinoma |
|
|
| gastric adenocarcinoma |
|
|
Search MAP2K2 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for MAP2K2 Gene
Publications for MAP2K2 Gene
- 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
- 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
- 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
- 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
- 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
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