Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CFC4
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

Show/Hide all(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
rs267607230	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs387906800	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs539611844	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs727504370	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504382	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504836	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs730880511	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880517	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs730880518	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880522	C>T	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs759061964	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs763424788	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Downstream transcript variant, intron variant, genic downstream transcript variant
rs763469132	TTC>-	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, coding sequence variant, inframe deletion, genic downstream transcript variant, intron variant
rs886041310	T>A,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057519806	T>C,G	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057519807	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519808	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519809	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519810	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519910	A>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1114167351	ATC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1135401787	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599307313	ACCTTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion

Show/Hide all(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
MIRT639734	hsa-miR-3119	HITS-CLIP	23824327
MIRT639733	hsa-miR-3672	HITS-CLIP	23824327
MIRT639732	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT639731	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT531861	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT531860	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT531859	hsa-miR-196b-3p	PAR-CLIP	22012620
MIRT531858	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT531857	hsa-miR-7155-5p	PAR-CLIP	22012620
MIRT531856	hsa-miR-4731-5p	PAR-CLIP	22012620
MIRT531854	hsa-miR-5589-5p	PAR-CLIP	22012620
MIRT531855	hsa-miR-492	PAR-CLIP	22012620
MIRT531852	hsa-miR-3649	PAR-CLIP	22012620
MIRT531853	hsa-miR-193b-5p	PAR-CLIP	22012620
MIRT531851	hsa-miR-3170	PAR-CLIP	22012620
MIRT531850	hsa-miR-6855-5p	PAR-CLIP	22012620
MIRT639737	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT639736	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT639735	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT639734	hsa-miR-3119	HITS-CLIP	23824327
MIRT639733	hsa-miR-3672	HITS-CLIP	23824327
MIRT639732	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT639731	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT531861	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT531860	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT531859	hsa-miR-196b-3p	PAR-CLIP	22012620
MIRT531858	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT531857	hsa-miR-7155-5p	PAR-CLIP	22012620
MIRT531856	hsa-miR-4731-5p	PAR-CLIP	22012620
MIRT531854	hsa-miR-5589-5p	PAR-CLIP	22012620
MIRT531855	hsa-miR-492	PAR-CLIP	22012620
MIRT531852	hsa-miR-3649	PAR-CLIP	22012620
MIRT531853	hsa-miR-193b-5p	PAR-CLIP	22012620
MIRT531851	hsa-miR-3170	PAR-CLIP	22012620
MIRT531850	hsa-miR-6855-5p	PAR-CLIP	22012620
MIRT1127938	hsa-miR-1181	CLIP-seq
MIRT1127939	hsa-miR-1226	CLIP-seq
MIRT1127940	hsa-miR-2052	CLIP-seq
MIRT1127941	hsa-miR-339-5p	CLIP-seq
MIRT1127942	hsa-miR-3622b-5p	CLIP-seq
MIRT1127943	hsa-miR-3921	CLIP-seq
MIRT1127944	hsa-miR-4251	CLIP-seq
MIRT1127945	hsa-miR-4287	CLIP-seq
MIRT1127946	hsa-miR-4329	CLIP-seq
MIRT1127947	hsa-miR-4469	CLIP-seq
MIRT1127948	hsa-miR-4520a-3p	CLIP-seq
MIRT1127949	hsa-miR-4653-5p	CLIP-seq
MIRT1127950	hsa-miR-4685-3p	CLIP-seq
MIRT1127951	hsa-miR-4733-3p	CLIP-seq
MIRT1127952	hsa-miR-4736	CLIP-seq
MIRT1127953	hsa-miR-4768-5p	CLIP-seq
MIRT1127954	hsa-miR-4786-5p	CLIP-seq
MIRT1127955	hsa-miR-503	CLIP-seq
MIRT1127956	hsa-miR-541	CLIP-seq
MIRT1127957	hsa-miR-654-5p	CLIP-seq
MIRT1127958	hsa-miR-769-5p	CLIP-seq
MIRT2036341	hsa-miR-3194-5p	CLIP-seq
MIRT2036342	hsa-miR-3197	CLIP-seq
MIRT1127938	hsa-miR-1181	CLIP-seq
MIRT2566262	hsa-miR-1247	CLIP-seq
MIRT2566263	hsa-miR-1250	CLIP-seq
MIRT2566264	hsa-miR-1827	CLIP-seq
MIRT2566265	hsa-miR-1909	CLIP-seq
MIRT2566266	hsa-miR-2355-5p	CLIP-seq
MIRT2566267	hsa-miR-3074-5p	CLIP-seq
MIRT2566268	hsa-miR-3150b-3p	CLIP-seq
MIRT2566269	hsa-miR-3907	CLIP-seq
MIRT2566270	hsa-miR-4258	CLIP-seq
MIRT2566271	hsa-miR-4316	CLIP-seq
MIRT2566272	hsa-miR-4707-5p	CLIP-seq
MIRT2566273	hsa-miR-4710	CLIP-seq
MIRT2566274	hsa-miR-4722-5p	CLIP-seq
MIRT2566275	hsa-miR-4768-3p	CLIP-seq
MIRT2566276	hsa-miR-4784	CLIP-seq
MIRT1127954	hsa-miR-4786-5p	CLIP-seq
MIRT1127955	hsa-miR-503	CLIP-seq
MIRT1127958	hsa-miR-769-5p	CLIP-seq
MIRT2566277	hsa-miR-940	CLIP-seq
MIRT1127938	hsa-miR-1181	CLIP-seq
MIRT2566262	hsa-miR-1247	CLIP-seq
MIRT2566263	hsa-miR-1250	CLIP-seq
MIRT2566264	hsa-miR-1827	CLIP-seq
MIRT2566265	hsa-miR-1909	CLIP-seq
MIRT2566266	hsa-miR-2355-5p	CLIP-seq
MIRT2566267	hsa-miR-3074-5p	CLIP-seq
MIRT2566268	hsa-miR-3150b-3p	CLIP-seq
MIRT2566269	hsa-miR-3907	CLIP-seq
MIRT2566270	hsa-miR-4258	CLIP-seq
MIRT2566271	hsa-miR-4316	CLIP-seq
MIRT2566272	hsa-miR-4707-5p	CLIP-seq
MIRT2566273	hsa-miR-4710	CLIP-seq
MIRT2566274	hsa-miR-4722-5p	CLIP-seq
MIRT2566275	hsa-miR-4768-3p	CLIP-seq
MIRT2566276	hsa-miR-4784	CLIP-seq
MIRT1127954	hsa-miR-4786-5p	CLIP-seq
MIRT1127955	hsa-miR-503	CLIP-seq
MIRT1127958	hsa-miR-769-5p	CLIP-seq
MIRT2566277	hsa-miR-940	CLIP-seq

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0000187	Process	Activation of MAPK activity	IBA	21873635
GO:0000187	Process	Activation of MAPK activity	TAS	19565474
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004708	Function	MAP kinase kinase activity	IBA	21873635
GO:0004708	Function	MAP kinase kinase activity	IDA	8388392
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	TAS	19565474
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0005078	Function	MAP-kinase scaffold activity	IMP	29433126
GO:0005515	Function	Protein binding	IPI	11909642, 17979178, 21615688, 21988832, 24746704, 25416956, 25600339, 25852190, 27086506, 28514442, 29433126, 31980649, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	NAS	8388392
GO:0005634	Component	Nucleus	TAS	19565474
GO:0005739	Component	Mitochondrion	TAS	19565474
GO:0005769	Component	Early endosome	TAS	19565474
GO:0005770	Component	Late endosome	TAS	19565474
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005783	Component	Endoplasmic reticulum	IDA	21615688
GO:0005794	Component	Golgi apparatus	IDA	21615688
GO:0005794	Component	Golgi apparatus	TAS	19565474
GO:0005829	Component	Cytosol	TAS	19565474
GO:0005874	Component	Microtubule	IDA	21615688
GO:0005911	Component	Cell-cell junction	IDA	21615688
GO:0005925	Component	Focal adhesion	TAS	19565474
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	21615688
GO:0010629	Process	Negative regulation of gene expression	IGI	23626836
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IEA
GO:0030165	Function	PDZ domain binding	IDA	21615688
GO:0032872	Process	Regulation of stress-activated MAPK cascade	TAS	19565474
GO:0036289	Process	Peptidyl-serine autophosphorylation	IDA	8388392
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	8388392
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	24375836
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	21615688
GO:0070371	Process	ERK1 and ERK2 cascade	IMP	24375836
GO:0070371	Process	ERK1 and ERK2 cascade	TAS
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IDA	8388392
GO:0090170	Process	Regulation of Golgi inheritance	TAS	19565474
GO:0097110	Function	Scaffold protein binding	IPI	10409742, 21615688
GO:1903800	Process	Positive regulation of production of miRNAs involved in gene silencing by miRNA	IMP	24375836
GO:2000641	Process	Regulation of early endosome to late endosome transport	TAS	19565474

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

MLARRKPVLPALTINPTIAEGPSPTSEGASEANLVDLQKKLEELELDEQQKKRLEAFLTQ
KAKVGELKDDDFERISELGAGNGGVVTKVQHRPSGLIMARKLIHLEIKPAIRNQIIRELQ
VLHECNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKEAKRIPEEILGKVSIAVLRG
LAYLREKHQIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMAPERLQ
GTHYSVQSDIWSMGLSLVELAVGRYPIPPPDAKELEAIFGRPVVDGEEGEPHSISPRPRP
PGRPVSGHGMDSRPAMAIFELLDYIVNEPPPKLPNGVFTPDFQEFVNKCLIKNPAERADL
KMLTNHTFIKRSEVEEVDFAGWLCKTLRLNQPGTPTRTAV

Sequence length

400

Interactions

View interactions

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Source
Unknown
Neurofibromatosis-Noonan Syndrome	neurofibromatosis-Noonan syndrome	GenCC
Cardiofaciocutaneous Syndrome	cardiofaciocutaneous syndrome	GenCC
Noonan Syndrome	Noonan syndrome	GenCC
Lymphocytic Leukemia	Lymphocytic Leukemia	GWAS
Hypertension	Hypertension	GWAS
Metabolic Syndrome	Metabolic Syndrome	GWAS

Show/Hide Text Mining Associations (107)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Carcinoma Ductal	Associate	34048471
Carcinoma Hepatocellular	Associate	22930530, 28844099, 35725908, 37914022, 9223425
Carcinoma Non Small Cell Lung	Associate	24108744, 25722381, 32147669, 36499305
Carcinoma Pancreatic Ductal	Associate	31583713
Cardiofaciocutaneous syndrome	Associate	17483702, 18039235, 18854871, 19156172, 20186801, 20358587, 21062266, 21495173, 23379592, 33482860, 35509048, 35524774, 37697378
Cardiomyopathy Hypertrophic	Associate	31163979
Cardiovascular Diseases	Associate	39762845
Cholangiocarcinoma	Associate	17461449, 21492330
Chromosome 3 monosomy 3p2	Associate	35509048
Cognition Disorders	Associate	19156172
Colitis Ulcerative	Associate	21557394
Colorectal Neoplasms	Associate	19372556, 20413844, 24025253, 25794709, 27636997, 28655712, 35091088
Congenital Abnormalities	Associate	19156172, 25853300
COVID 19	Associate	36736734
Cryptorchidism	Associate	29752777
Developmental Disabilities	Associate	23379592, 25853300, 30355600
Diabetes Mellitus	Associate	35628588, 36736734
Diabetes Mellitus Type 2	Associate	26269521
Disease	Associate	39355617
Drug Related Side Effects and Adverse Reactions	Associate	12738674, 16957420, 18719356, 20360249, 20442308
Dyschromatosis universalis hereditaria	Associate	28382689
Ectodermal Dysplasia	Associate	19156172
Endometrial Neoplasms	Associate	21720253, 22706224
Endometriosis	Associate	24064688
Erectile Dysfunction	Associate	38111702
Esophageal Neoplasms	Associate	37286356
Esophageal Squamous Cell Carcinoma	Associate	19164283, 36848349
Eye Abnormalities	Associate	19156172
Facial Asymmetry	Associate	23379592
Failure to Thrive	Associate	23379592
Fatigue Syndrome Chronic	Associate	27098723
Gastroesophageal Reflux	Associate	23379592
Glioma	Associate	18398503, 19158480, 21364665
Glioma	Stimulate	30225541
Growth Disorders	Associate	37697378
Head and Neck Neoplasms	Associate	25853300
Heart Defects Congenital	Associate	19156172, 23379592
Hematologic Neoplasms	Associate	31768065
Histiocytosis	Associate	31768065
Hyperglycemia	Associate	27606810
Hyperpigmentation	Associate	28382689
Hypomagnesemia primary	Inhibit	35509048
Hypoxia Brain	Associate	26387536
Idiopathic Pulmonary Fibrosis	Associate	17331965
Infections	Associate	16051824, 23797008
Inflammation	Associate	18424438, 19858308, 21990352, 28617818, 32063702, 37339976
Ischemia	Associate	26742633
Language Development Disorders	Associate	25853300
Learning Disabilities	Associate	18039235
Leukemia	Associate	17218385, 19414379, 19773546, 31056348, 37322258
Leukemia Biphenotypic Acute	Associate	37845689
Leukemia Hairy Cell	Associate	12576324
Leukemia Lymphocytic Chronic B Cell	Associate	18292287, 22086413, 22160382
Leukemia Myeloid	Associate	11238126
Leukemia Myeloid Acute	Associate	11238126, 37845689, 39273530
Liver Failure	Associate	25794709
Lung Neoplasms	Associate	23362830, 37816716
Lymphoma	Associate	34239803
Lymphoma Non Hodgkin	Associate	29515122, 38613141
Lymphoma T Cell	Associate	34239803
Malformations of Cortical Development Group I	Associate	19833733
Mammary Neoplasms Animal	Associate	16957420, 19457236
Melanoma	Associate	19362540, 21477078, 22589389, 23174022, 24055054, 24265154, 24466036, 25452114, 25850435, 26084293, 26588333, 28387310, 28655712, 30819666, 30989459 View all (4 more)
Mesothelioma	Associate	35319795
Mitral Valve Insufficiency	Associate	19156172
Multiple Myeloma	Associate	17540843, 17854307, 21911831, 24594907
Muscle Hypotonia	Associate	23379592
Muscular Dystrophy Duchenne	Associate	36619896
Musculoskeletal Diseases	Associate	33482860
Nasal Polyps	Associate	24609540
Neoplasm Metastasis	Associate	29208568, 35725908
Neoplasms	Associate	17218385, 18398503, 20442308, 21557394, 24025253, 25452114, 27057633, 28655712, 28674184, 29064427, 30446580, 30858179, 34469736, 34661724, 35319795, 36140671, 36619896, 38259097 View all (3 more)
Neoplasms	Stimulate	9223425
Neuroblastoma	Associate	26384788, 34807483
Neuroendocrine Tumors	Associate	20407018
Neurofibrosarcoma	Associate	27494873
Nevus Pigmented	Associate	27057633
Noonan Syndrome	Associate	31163979
Optic Nerve Glioma	Associate	12356354
Osteosarcoma	Associate	17412493
Pancreatic Neoplasms	Associate	27301426, 36999792
Parkinson Disease	Associate	37339976
Periodic fever familial autosomal dominant	Associate	31009059
Pneumonia	Associate	32063702
Prostatic Neoplasms	Associate	26983806, 32859632
Prostatic Neoplasms Castration Resistant	Stimulate	37095108
Pulmonary Disease Chronic Obstructive	Associate	32063702
Pulmonary edema of mountaineers	Associate	24465776
Pyloric Stenosis Hypertrophic	Associate	35509048
Sleep Apnea Obstructive	Associate	23379592
Squamous Cell Carcinoma of Head and Neck	Associate	24192080, 32381551, 33051434
Stomach Neoplasms	Associate	19858308
Thymoma	Associate	32463597
Thyroid Cancer Papillary	Associate	19500021, 25294906
Thyroid Neoplasms	Associate	19500021, 22090271, 30768848, 37932340
Triple Negative Breast Neoplasms	Associate	30108112, 34168046
Uterine Cervical Neoplasms	Associate	32196955

MAP2K2 (mitogen-activated protein kinase kinase 2)