Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5605
Gene name Gene Name - the full gene name approved by the HGNC.
Mitogen-activated protein kinase kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAP2K2
Synonyms (NCBI Gene) Gene synonyms aliases
CFC4, MAPKK2, MEK2, MKK2, PRKMK2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601263 6842 ENSG00000126934
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiofaciocutaneous Syndrome cardiofaciocutaneous syndrome 4 rs121434498, rs886041310, rs1057519806, rs267607230, rs1135401787, rs387906800, rs121434497, rs2041142587, rs730880517, rs121434499 N/A
Cardiofaciocutaneous syndrome cardio-facio-cutaneous syndrome rs1057519806, rs267607230, rs1599307313, rs121434497, rs727504382, rs121434498, rs727504370, rs121434499 N/A
Noonan Syndrome Noonan syndrome and Noonan-related syndrome, noonan syndrome 1 rs121434499, rs727504370 N/A
ardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome 1 rs730880517 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy N/A N/A ClinVar
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease 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