MAP2K2 Gene
protein-coding GIFtS: 72
GCID: GC19M004090
|
|
mitogen-activated protein kinase kinase 2
(Previous symbol: PRKMK2)
| |
Aliases
for MAP2K2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mitogen-Activated Protein Kinase Kinase 21 2 | | EC 2.7.12.23 8 | | MEK21 2 3 5 | | MAPKK22 | | PRKMK21 2 3 5 | | Dual Specificity Mitogen-Activated Protein Kinase Kinase 22 | | MKK22 3 5 | | Mitogen-Activated Protein Kinase Kinase 2, P452 | | ERK Activator Kinase 22 3 | | MAPKK 23 | | MAP Kinase Kinase 22 3 | | MEK 23 | | MAPK/ERK Kinase 22 3 | | |
Export aliases for MAP2K2 gene to outside databasesPrevious GC identifers: GC19M004183 GC19M004030 GC19M004041 GC19M003854 |
Summaries
for MAP2K2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MAP2K2:
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 thusactivates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylationby MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a diseasecharacterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonansyndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersiniaand anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. (provided by RefSeq,Jul 2008)
UniProtKB/Swiss-Prot: MP2K2_HUMAN, P36507Function: Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequencelocated in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity)
Gene Wiki entry for MAP2K2
|
Genomic Views
for MAP2K2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011255.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MAP2K2 gene promoter:
CREB PPAR-gamma1 deltaCREB STAT3 PPAR-gamma2
Other transcription factors
Search SABiosciences Chromatin IP Primers for MAP2K2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAP2K2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13.3MAP2K2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M004090: view genomic region
(about GC identifiers)
Start:
|
4,090,319 bp from pter |
End:
|
4,124,126 bp from pter |
Size:
|
33,808 bases |
Orientation:
|
minus strand |
|
Proteins
for MAP2K2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MP2K2_HUMAN, P36507 (See
protein sequence)Recommended Name: Dual specificity mitogen-activated protein kinase kinase 2 Size: 400 amino acids; 44424 Da
Subunit: Interacts with MORG1 (By similarity). Interacts with SGK1
1 PDB 3D structure from  and Proteopedia  for MAP2K2:1S9I (3D)
Explore the universe of human proteins at neXtProt for MAP2K2: NX_P36507
Post-translational modifications:
MAPKK is itself dependent on Ser/Thr phosphorylation for activity catalyzed by MAP kinase kinase kinases (RAF orMEKK1). Phosphorylated by MAP2K1/MEK1 (By similarity)1
Acetylation of Ser-222 and Ser-226 by Yersinia yopJ prevents phosphorylation and activation, thus blocking the MAPKsignaling pathway1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P36507
4/16 DME Specific Peptides for MAP2K2 (P36507) (see all 16)
MAP2K2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_109587.1
ENSEMBL proteins: ENSP00000262948 ENSP00000378336 Reactome Protein details: P36507
Human Recombinant Protein Products for MAP2K2:
Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16): About this table
MAP2K2 for ontologies About GeneDecksing
MAP2K2 Antibody Products:
Assay Products for MAP2K2: |
Protein
Domains /
Families
for MAP2K2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MAP2K2 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P36507ProtoNet protein and cluster: P36507 UniProtKB/Swiss-Prot: MP2K2_HUMAN, P36507Similarity: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamilySimilarity: Contains 1 protein kinase domain |
Function
for MAP2K2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: MP2K2_HUMAN, P36507Function: Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequencelocated in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity)Catalytic activity: ATP + a protein = ADP + a phosphoprotein Enzyme Number (IUBMB): EC 2.7.12.21 2
Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table
MAP2K2 for ontologies About GeneDecksing
Phenotypes:
3 GenomeRNAi human phenotypes for MAP2K2:
10 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Map2k2):
MAP2K2 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Map2k2tm1Chrn for MAP2K2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAP2K2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MAP2K2 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MAP2K2 (NM_030662) | |  | Sino Biological Human cDNA Clone for MAP2K2 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MAP2K2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAP2K2 |
|
Pathways & Interactions
for MAP2K2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/134 super-pathways (see all 134) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | TRAF6 Mediated Induction of proinflammatory cytokines | | | 2 | Development_CNTF receptor signaling | | | 3 | Development HGF signaling pathway | | | 4 | ErbB4 Pathway | | | 5 | Signaling by FGFR | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/69 EMD Millipore Pathways for MAP2K2 (see all 69)
5/9  R&D Systems Pathways for MAP2K2 (see all 9)
5/97 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MAP2K2 (see all 97)
1 
Cell Signaling Technology (CST) Pathway for MAP2K2
5  Tocris Bioscience Pathways for MAP2K2
5/71  GeneGo (Thomson Reuters) Pathways for MAP2K2 (see all 71)
5/39  BioSystems Pathways for MAP2K2 (see all 39)
5/75 
Reactome Pathways for MAP2K2 (see all 75)
3  PharmGKB Pathways for MAP2K2
5/30 
Kegg Pathways (Kegg details for MAP2K2) (see all 30):
MAP2K2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MAP2K2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/609 Interacting proteins for MAP2K2 (P365071, 2, 3 ENSP000002629484) via UniProtKB, MINT, STRING, and/or I2D (see all 609)About this table
Gene Ontology (GO): 5/29 biological process terms (GO ID links to tree view) (see all 29): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000165 | MAPK cascade |
TAS | -- | | GO:0000186 | activation of MAPKK activity |
TAS | -- | | GO:0000187 | activation of MAPK activity |
TAS | -- | | GO:0002224 | toll-like receptor signaling pathway |
TAS | -- | | GO:0002755 | MyD88-dependent toll-like receptor signaling pathway |
TAS | -- |
MAP2K2 for ontologies About GeneDecksing
|
Drugs & Compounds
for MAP2K2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MAP2K2 for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for MAP2K2 |
Compounds for MAP2K2 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| PD 0325901 | Selective inhibitor of MEK1/2 | [391210-10-9] | | PD 98059 | Specific inhibitor of MEK | [167869-21-8] | | U0126 | Potent, selective inhibitor of MEK1 and 2 | [109511-58-2] | | PD 184352 | Selective MEK inhibitor | [212631-79-3] | | SL 327 | Selective inhibitor of MEK1 and MEK2; brain penetrant | [305350-87-2] |
2 HMDB Compounds for MAP2K2 About this table
10 Novoseek chemical compound relationships for MAP2K2 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| pd 98,059 |
52.9 |
3 |
12801927 (1), 15381709 (1), 10395291 (1) |
| threonine |
46 |
2 |
19206169 (1), 15543157 (1) |
| phosphatidylinositol |
33.9 |
2 |
18202115 (1), 8702863 (1) |
| fmlp |
30.1 |
2 |
8969228 (1), 9552001 (1) |
| serine |
29.1 |
4 |
17116858 (2), 19206169 (1), 10828601 (1) |
| tyrosine |
21.8 |
4 |
17380122 (1), 15543157 (1), 18940803 (1), 7538132 (1) |
| wortmannin |
12.9 |
1 |
8702863 (1) |
| phosphoinositide |
6.22 |
1 |
15147509 (1) |
| cycloheximide |
0.567 |
1 |
11977986 (1) |
| nitric oxide |
0 |
2 |
15147509 (1), 15728793 (1) |
Search CenterWatch for drugs/clinical trials and news about MAP2K2 / MP2K2
|
Transcripts
for MAP2K2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MAP2K2 gene: NM_030662.3 Unigene Cluster for MAP2K2: Mitogen-activated protein kinase kinase 2 Hs.465627 [show with all ESTs]Unigene Representative Sequence: BM8098712 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000262948(uc002lzk.3) ENST00000394867
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAP2K2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MAP2K2 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MAP2K2 (NM_030662) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MAP2K2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAP2K2 |
Additional cDNA sequence: BC000471.2 BC018645.2 BX538081.1 L11285.1 24 DOTS entries: DT.100813934 DT.452895 DT.100813943 DT.95122783 DT.100050970 DT.121463368 DT.95112902 DT.99955121 DT.101985152 DT.99941010 DT.121463385 DT.100728450 DT.100813940 DT.121463365 DT.86840886 DT.100813944 DT.95261745 DT.121463338 DT.121463361 DT.40122725 DT.75197914 DT.121463382 DT.75176168 DT.91676095 24/543 AceView cDNA sequences (see all 543): BU679684 BU930937 BM983117 AW575050 BQ933571 BE645547 AI080739 BM738798 CR615045 BI963914 AW665219 AI080740 BC000471 BE676758 BM980390 BQ425193 BQ108601 AI140994 BG744511 BE887110 CN482089 BG179469 BU630910 BU854964
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for MAP2K2 (see all 8) About this scheme
| 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: | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MAP2K2
|
Expression
for MAP2K2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MAP2K2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGAACGGG
About this image
See MAP2K2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MAP2K2
SOURCE GeneReport for Unigene cluster: Hs.465627
SABiosciences Expression via Pathway-Focused PCR Arrays including MAP2K2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MAP2K2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MAP2K2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAP2K2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAP2K2 |
Orthologs
for MAP2K2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MAP2K2 gene from 7/29 species (see all 29) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
MAP2K21 |
mitogen-activated protein kinase kinase 2 |
82.08(n)
93.97(a) |
|
396349 NM_205388.1 NP_990719.1 |
lizard
(Anolis carolinensis) |
Reptilia |
MAP2K26MAP2K16 |
-- |
94(a)75(a) |
1 ↔ 1possible ortholog |
AAWZ02038541(642-6912) AAWZ02039589(1152-5061) |
zebrafish
(Danio rerio) |
Actinopterygii |
map2k2a1 |
mitogen-activated protein kinase kinase 2a |
76.26(n)
86.11(a) |
|
563181 NM_001037391.2 NP_001032468.2 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Dsor13 |
signal transduction receptor signaling
protein more |
63(a) |
|
1 8D10 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
mek-23 |
protein kinase |
53(a) |
|
I(3006030-3013446) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
MKK61 |
mitogen-activated protein kinase kinase 6 |
50.16(n)
42.67(a) |
|
835759 NM_125041.2 NP_200469.1 |
rice
(Oryza sativa) |
Liliopsida |
Os01g05101001 |
hypothetical protein |
49.38(n)
41.93(a) |
|
4324023 NM_001049699.1 NP_001043164.1 |
ENSEMBL Gene Tree for MAP2K2 (if available)
TreeFam Gene Tree for MAP2K2 (if available) |
Paralogs
for MAP2K2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MAP2K2 gene
- MAP2K32 MAP2K52 MAP2K62 MAP2K42 MAP2K72 MAP2K12
15 SIMAP similar genes for MAP2K2 using alignment to 4 protein entries: MP2K2_HUMAN (see all proteins):DKFZp686L02273 MAP2K1 NEK6 MARK4 MAP2K5 MAP2K4
RPS6KA2 STK11 MAP2K6 STK4 MAP2K3 MAP2K7
NUAK1 STK3 CDK4
MAP2K2 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for MAP2K2
PGOHUM00000250969
|
Genomic Variants
for MAP2K2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MAP2K2 (4090319 - 4124126 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MAP2K2
1 CNV: 5074
Human Gene Mutation Database (HGMD): MAP2K2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAP2K2 |
|
Disorders
/ Diseases
for MAP2K2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MAP2K2 for disorders About GeneDecksing
OMIM gene information: 601263
OMIM disorders: 115150
UniProtKB/Swiss-Prot: MP2K2_HUMAN, P36507
Defects in MAP2K2 are a cause of cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]; also known ascardio-facio-cutaneous syndrome. CFC syndrome is characterized by a distinctive facial appearance, heart defects andmental 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 skinlesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. Theyinclude high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures,a depressed nasal bridge, and posteriorly angulated ears with prominent helices. The inheritance of CFC syndrome isautosomal dominant
20/62  diseases for MAP2K2 (see all 62): About MalaCardscardiofaciocutaneous syndrome noonan syndrome short stature pulmonic stenosis
pulmonary valve stenosis corpus callosum barrett's esophagus costello syndrome
leopard syndrome intellectual disability myeloid leukemia hypertrophic cardiomyopathy
tuberous sclerosis chronic myeloid leukemia acute myeloid leukemia herpes simplex
fanconi's anemia prion disease kaposi's sarcoma lipoma
2 diseases from the University of Copenhagen DISEASES database for MAP2K2:Costello syndrome Noonan syndrome 10 Novoseek disease relationships for MAP2K2 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cfc syndrome |
95.9 |
5 |
20052757 (1), 17211612 (1), 17661820 (1), 19376813 (1) (see all 5) |
| noonan syndrome |
85.8 |
2 |
19156172 (1), 17603483 (1) |
| heart defects congenital |
55 |
1 |
19376813 (1) |
| anthrax |
48.1 |
1 |
11977986 (1) |
| macrocephaly |
40.8 |
1 |
17211612 (1) |
| pancreatic cancer |
40.8 |
18 |
20514469 (5), 14654942 (4), 15547692 (3), 16110828 (2) (see all 5) |
| short stature |
34.7 |
1 |
17211612 (1) |
| cancer |
21.2 |
6 |
15547692 (2), 15010817 (1), 10216485 (1), 16110828 (1) |
| tumors |
17.2 |
4 |
19014680 (2), 14654942 (1), 18533112 (1) |
| colorectal cancer |
1.72 |
3 |
19014680 (3) |
GeneTests: MAP2K2
Cardiofaciocutaneous Syndrome
Human Genome Epidemiology (HuGE) Navigator: MAP2K2 (6 documents)
Export disorders for MAP2K2 gene to outside databases
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Publications
for MAP2K2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MAP2K2 gene, integrated from 9 sources (see all 251):
(articles sorted by number of sources associating them with MAP2K2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and characterization of two distinct human extracellular signal-regulated kinase activator kinases, MEK1 and MEK2. (PubMed id 8388392)1, 2, 3, 9 Zheng C.-F. and Guan K.-L. (1993)
- Germline mutations in genes within the MAPK pathway cause cardio- facio-cutaneous syndrome. (PubMed id 16439621)1, 2, 9 Rodriguez-Viciana P.... Rauen K.A. (2006)
- Protein kinase SGK1 enhances MEK/ERK complex formatio n through the phosphorylation of ERK2: implication for the positive regulatory role of SGK1 on the ERK function during liver regeneration. (PubMed id 19447520)1, 2 Won M....Hur G.M. (2009)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Susceptibility of mitogen-activated protein kinase kinase family members to proteolysis by anthrax lethal factor. (PubMed id 11104681)1, 2 Vitale G.... Montecucco C. (2000)
- Proteolytic inactivation of MAP-kinase-kinase by anthrax lethal factor. (PubMed id 9563949)1, 2 Duesbery N.S....Vande Woude G.F. (1998)
- Activation of MEK1 or MEK2 isoform is sufficient to fully transform intestinal epithelial cells and induce the formation of metastatic tumors. (PubMed id 19014680)1, 9 Voisin L....Meloche S. (2008)
- Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. (PubMed id 19156172)1, 9 Dentici M.L....Dallapiccola B. (2009)
- Chemotactic peptide-induced activation of MEK-2, the predominant isoform in human neutrophils. Inhibition by wortmannin. (PubMed id 8702863)1, 9 Downey G.P....Grinstein S. (1996)
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External Searches for MAP2K2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing MAP2K2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing MAP2K2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MAP2K2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
|
About This Section
| Patent Information for MAP2K2 gene:
Search GeneIP for patents involving MAP2K2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MAP2K2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
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