Gene Gene information from NCBI Gene database.
Entrez ID 5605
Gene name Mitogen-activated protein kinase kinase 2
Gene symbol MAP2K2
Synonyms (NCBI Gene)
CFC4MAPKK2MEK2MKK2PRKMK2
Chromosome 19
Chromosome location 19p13.3
Summary 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
SNPs SNP information provided by dbSNP.
28
SNP ID Visualize variation Clinical significance Consequence
rs117945277 G>A,C Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, genic downstream transcript variant, missense variant
rs121434497 A>C,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs121434498 A>C,G,T Uncertain-significance, pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs121434499 A>G Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs139404261 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, benign Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
103
miRTarBase ID miRNA Experiments Reference
MIRT025900 hsa-miR-7-5p Microarray 19073608
MIRT032459 hsa-let-7b-5p Proteomics 18668040
MIRT639737 hsa-miR-224-5p HITS-CLIP 23824327
MIRT639736 hsa-miR-3607-5p HITS-CLIP 23824327
MIRT639735 hsa-miR-873-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
75
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IBA
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601263 6842 ENSG00000126934
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36507
Protein name Dual specificity mitogen-activated protein kinase kinase 2 (MAP kinase kinase 2) (MAPKK 2) (EC 2.7.12.2) (ERK activator kinase 2) (MAPK/ERK kinase 2) (MEK 2)
Protein 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). Activates BRAF in a KSR1 or KSR2-dependent manner; by bind
PDB 1S9I , 4H3Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 72 369 Protein kinase domain Domain
Sequence
Sequence length 400
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1062
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardio-facio-cutaneous syndrome Likely pathogenic; Pathogenic rs727504370, rs121434497, rs121434498, rs121434499, rs267607230, rs1057519806, rs727504382, rs1599307313 RCV000208747
RCV000208756
RCV000521375
RCV000008763
RCV000208770
RCV000824947
RCV000524055
RCV000824944
Cardiofaciocutaneous syndrome 1 Likely pathogenic; Pathogenic rs730880517 RCV000200295
Cardiofaciocutaneous syndrome 4 Likely pathogenic; Pathogenic rs121434498, rs121434497, rs121434499, rs267607230, rs2145080530, rs886041310, rs1057519806, rs387906800, rs1135401787, rs730880517 RCV004796053
RCV000008761
RCV000008762
RCV000043675
RCV000008764
RCV003152996
RCV001775109
RCV000995803
RCV000023088
RCV000496536
RCV001781338
RCV005622034
Cardiovascular phenotype Likely pathogenic; Pathogenic rs387906800 RCV005372225
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs116988721 RCV005888907
Familial cancer of breast Benign; Likely benign rs199892711 RCV005900840
Gastric cancer Benign rs116988721 RCV005888910
Hypertrophic cardiomyopathy Benign rs200371894 RCV000852749
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 23379592
Absent Eyebrows and Eyelashes with Mental Retardation Associate 37697378
Adenocarcinoma Associate 26317790
Alzheimer Disease Associate 21811019
Astrocytoma Associate 12356354
Ataxia Telangiectasia Associate 19500021
Atrial Fibrillation Associate 10807475
Breast Neoplasms Associate 12907143, 30108112, 31702027, 33066575, 35739379, 36041543, 37664933, 38259097
Carcinogenesis Associate 29064427, 30355600
Carcinoid Tumor Associate 20407018